#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SSU72	29101	broad.mit.edu	37	1	1500188	1500188	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:1500188C>T	ENST00000291386.3	-	2	500	c.189G>A	c.(187-189)caG>caA	p.Q63Q	SSU72_ENST00000359060.4_Silent_p.Q63Q	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	63					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CATTGTACATCTGGTCATATG	0.493																																							uc001agd.2		NA																	0					0						c.(187-189)CAG>CAA		Ssu72 RNA polymerase II CTD phosphatase homolog							177.0	174.0	175.0					1																	1500188		2203	4300	6503	SO:0001819	synonymous_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500188C>T	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.189G>A	1.37:g.1500188C>T						SSU72_uc009vkg.1_Silent_p.Q63Q|SSU72_uc001age.1_Silent_p.Q63Q	p.Q63Q	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	514	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	63					Q9BZS6|Q9H933	Silent	SNP	ENST00000291386.3	37	c.189G>A	CCDS32.1																																																																																				0.493	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		10	105	0	0	0	0.006214	0	10	105				
PLEKHG5	57449	broad.mit.edu	37	1	6528512	6528512	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:6528512G>A	ENST00000400915.3	-	21	2618	c.2552C>T	c.(2551-2553)tCt>tTt	p.S851F	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S795F|TNFRSF25_ENST00000461703.2_5'Flank|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S795F|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S795F|TNFRSF25_ENST00000351959.5_5'Flank|TNFRSF25_ENST00000348333.3_5'Flank|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S874F|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S864F|PLEKHG5_ENST00000377740.3_Intron|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S832F|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S795F|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.S872F	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	851					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)		GGGCGTGGCAGATGAGGCAGT	0.637																																							uc001ano.1		NA																	0				liver(1)	1						c.(2551-2553)TCT>TTT		pleckstrin homology domain containing family G							26.0	25.0	26.0					1																	6528512		2201	4298	6499	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.chr1:6528512G>A	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.2552C>T	1.37:g.6528512G>A	ENSP00000383706:p.Ser851Phe					PLEKHG5_uc001ann.1_Missense_Mutation_p.S832F|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Missense_Mutation_p.S872F|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.S356F|PLEKHG5_uc009vma.1_Missense_Mutation_p.S635F|PLEKHG5_uc010nzr.1_Missense_Mutation_p.S864F|PLEKHG5_uc001ank.1_Missense_Mutation_p.S795F|PLEKHG5_uc009vmb.1_Missense_Mutation_p.S795F|PLEKHG5_uc001anl.1_Missense_Mutation_p.S795F|PLEKHG5_uc001anm.1_Missense_Mutation_p.S795F|PLEKHG5_uc001anr.1_Missense_Mutation_p.S58F	p.S851F	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)	21	2653	-	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)	851					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.2552C>T	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128466	0.56721	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.48	5.48	0.80851	.	0.326890	0.33980	N	0.004374	T	0.70378	0.3217	L	0.27053	0.805	0.33855	D	0.633054	D;D;D;D	0.60575	0.988;0.988;0.988;0.98	P;P;P;P	0.60473	0.864;0.875;0.875;0.753	T	0.76046	-0.3102	10	0.40728	T	0.16	-27.9486	17.9212	0.88966	0.0:0.0:1.0:0.0	.	864;795;872;851	F5GZ21;O94827-4;O94827-2;O94827	.;.;.;PKHG5_HUMAN	F	872;795;795;851;832;795;795;864;795;701;874;795	ENSP00000366977:S872F;ENSP00000344570:S795F;ENSP00000383704:S795F;ENSP00000383706:S851F;ENSP00000366961:S832F;ENSP00000366957:S795F;ENSP00000366954:S795F;ENSP00000441445:S864F;ENSP00000366966:S795F;ENSP00000439625:S874F;ENSP00000437710:S795F	ENSP00000344570:S795F	S	-	2	0	PLEKHG5	6451099	0.993000	0.37304	0.118000	0.21660	0.161000	0.22273	4.993000	0.63895	2.577000	0.86979	0.462000	0.41574	TCT		0.637	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		5	22	0	0	0	0.001168	0	5	22				
EPHA8	2046	broad.mit.edu	37	1	22915468	22915468	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:22915468T>C	ENST00000166244.3	+	5	1156	c.1084T>C	c.(1084-1086)Tac>Cac	p.Y362H	EPHA8_ENST00000374644.4_Missense_Mutation_p.Y362H|EPHA8_ENST00000538803.1_Missense_Mutation_p.Y362H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	362	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGACATCACCTACAATGCCGT	0.657																																							uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1084-1086)TAC>CAC		ephrin receptor EphA8 isoform 1 precursor							35.0	31.0	32.0					1																	22915468		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22915468T>C	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1084T>C	1.37:g.22915468T>C	ENSP00000166244:p.Tyr362His					EPHA8_uc001bfw.2_Missense_Mutation_p.Y362H	p.Y362H	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	1209	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	362			Extracellular (Potential).|Fibronectin type-III 1.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.1084T>C	CCDS225.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114819	0.77210	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.78481	-1.18;-0.97;-0.97	4.17	4.17	0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88706	0.6509	M	0.89287	3.02	0.80722	D	1	D;D	0.71674	0.975;0.998	P;D	0.77557	0.828;0.99	D	0.90633	0.4568	10	0.87932	D	0	.	12.4553	0.55700	0.0:0.0:0.0:1.0	.	362;362	P29322;P29322-2	EPHA8_HUMAN;.	H	362	ENSP00000166244:Y362H;ENSP00000363775:Y362H;ENSP00000440274:Y362H	ENSP00000166244:Y362H	Y	+	1	0	EPHA8	22788055	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.754000	0.85163	1.870000	0.54199	0.402000	0.26972	TAC		0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		4	27	0	0	0	0.000602	0	4	27				
MYOM3	127294	broad.mit.edu	37	1	24406539	24406539	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:24406539G>A	ENST00000374434.3	-	20	2715	c.2553C>T	c.(2551-2553)gtC>gtT	p.V851V	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Silent_p.V852V|MYOM3_ENST00000329601.7_Silent_p.V851V|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000475306.1_5'Flank	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	851	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCTGGGGTGACCGGCTTCC	0.592																																							uc001bin.3		NA																	0				skin(2)|ovary(1)	3						c.(2551-2553)GTC>GTT		myomesin family, member 3							67.0	76.0	73.0					1																	24406539		1964	4154	6118	SO:0001819	synonymous_variant	127294							g.chr1:24406539G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2553C>T	1.37:g.24406539G>A						MYOM3_uc001bim.3_Silent_p.V508V|MYOM3_uc001bio.2_Silent_p.V851V	p.V851V	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	20	2716	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	851			Fibronectin type-III 5.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.2553C>T	CCDS41281.1																																																																																				0.592	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		6	65	0	0	0	0.001168	0	6	65				
IFI6	2537	broad.mit.edu	37	1	27992960	27992960	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:27992960C>G	ENST00000361157.6	-	5	452	c.325G>C	c.(325-327)Ggt>Cgt	p.G109R	IFI6_ENST00000362020.4_Missense_Mutation_p.G113R|IFI6_ENST00000339145.4_Missense_Mutation_p.G117R	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	109					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCAATATTACCTATGACGACG	0.537																																							uc001boo.1		NA																	0				ovary(1)	1						c.(325-327)GGT>CGT		interferon, alpha-inducible protein 6 isoform a							74.0	65.0	68.0					1																	27992960		2203	4300	6503	SO:0001583	missense	2537				anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding	g.chr1:27992960C>G	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"""interferon, alpha-inducible protein (clone IFI-6-16)"""	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.325G>C	1.37:g.27992960C>G	ENSP00000354736:p.Gly109Arg					IFI6_uc001bon.1_Missense_Mutation_p.G117R|IFI6_uc001bop.1_Missense_Mutation_p.G113R	p.G109R	NM_002038	NP_002029	P09912	IFI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	448	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	109					Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	c.325G>C	CCDS306.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015362	0.54468	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.37058	1.22;1.22;1.22	3.06	3.06	0.35304	.	0.566064	0.16466	N	0.213184	T	0.52419	0.1733	M	0.76727	2.345	0.09310	N	1	D;D;D	0.61697	0.977;0.96;0.99	P;P;P	0.59487	0.856;0.799;0.858	T	0.38329	-0.9666	10	0.72032	D	0.01	.	9.8799	0.41227	0.0:1.0:0.0:0.0	.	113;109;117	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	R	109;117;113	ENSP00000354736:G109R;ENSP00000342513:G117R;ENSP00000355152:G113R	ENSP00000342513:G117R	G	-	1	0	IFI6	27865547	0.050000	0.20438	0.035000	0.18076	0.003000	0.03518	2.542000	0.45744	2.039000	0.60335	0.655000	0.94253	GGT		0.537	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873		6	44	0	0	0	0.00308	0	6	44				
HIVEP3	59269	broad.mit.edu	37	1	42047735	42047735	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:42047735C>G	ENST00000372583.1	-	4	3619	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E912Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E912Q|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E912Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	912	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGCCATCTCTGCCAGGCGC	0.592																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2734-2736)GAG>CAG		human immunodeficiency virus type I enhancer							80.0	89.0	86.0					1																	42047735		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047735C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2734G>C	1.37:g.42047735C>G	ENSP00000361664:p.Glu912Gln					HIVEP3_uc001cha.3_Missense_Mutation_p.E912Q|HIVEP3_uc001cgy.2_RNA	p.E912Q	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3947	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	912			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2734G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060879	0.55432	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.95	4.02	0.46733	.	0.127827	0.35677	N	0.003042	T	0.44912	0.1316	L	0.49455	1.56	0.48696	D	0.999693	B;B	0.18310	0.027;0.016	B;B	0.19391	0.025;0.011	T	0.46303	-0.9201	10	0.72032	D	0.01	-15.3613	15.0205	0.71627	0.0:0.8568:0.1432:0.0	.	912;912	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	912	ENSP00000361665:E912Q;ENSP00000361664:E912Q;ENSP00000247584:E912Q;ENSP00000410828:E912Q	ENSP00000247584:E912Q	E	-	1	0	HIVEP3	41820322	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.923000	0.70045	1.274000	0.44362	0.462000	0.41574	GAG		0.592	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		8	127	0	0	0	0.00308	0	8	127				
HIVEP3	59269	broad.mit.edu	37	1	42047774	42047774	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:42047774C>G	ENST00000372583.1	-	4	3580	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E899Q|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	899	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCTTCTCAGCTGGGAGC	0.622																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2695-2697)GAG>CAG		human immunodeficiency virus type I enhancer							60.0	69.0	66.0					1																	42047774		2202	4300	6502	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047774C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2695G>C	1.37:g.42047774C>G	ENSP00000361664:p.Glu899Gln					HIVEP3_uc001cha.3_Missense_Mutation_p.E899Q|HIVEP3_uc001cgy.2_RNA	p.E899Q	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3908	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	899			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2695G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310158	0.81358	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.95	4.95	0.65309	.	0.000000	0.50627	D	0.000104	T	0.76630	0.4014	M	0.76727	2.345	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.79678	-0.1703	10	0.87932	D	0	-2.8812	17.9567	0.89072	0.0:1.0:0.0:0.0	.	899;899	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	899	ENSP00000361665:E899Q;ENSP00000361664:E899Q;ENSP00000247584:E899Q;ENSP00000410828:E899Q	ENSP00000247584:E899Q	E	-	1	0	HIVEP3	41820361	1.000000	0.71417	0.952000	0.39060	0.719000	0.41307	7.639000	0.83342	2.562000	0.86427	0.462000	0.41574	GAG		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		8	86	0	0	0	0.004482	0	8	86				
CYP4A11	1579	broad.mit.edu	37	1	47403713	47403713	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:47403713G>T	ENST00000310638.4	-	2	323	c.292C>A	c.(292-294)Cag>Aag	p.Q98K	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q98K|CYP4A11_ENST00000462347.1_Missense_Mutation_p.Q98K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q98K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	98					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TCATAGAGCTGGACACGAACT	0.517																																							uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(292-294)CAG>AAG		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						204.0	164.0	178.0					1																	47403713		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47403713G>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.292C>A	1.37:g.47403713G>T	ENSP00000311095:p.Gln98Lys					CYP4A11_uc001cqq.2_Missense_Mutation_p.Q98K|CYP4A11_uc010omm.1_RNA	p.Q98K	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			2	343	-			98					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.292C>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	10.57	1.388212	0.25118	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.68025	-0.3;-0.3;-0.3	5.51	-2.87	0.05700	.	1.870270	0.03963	N	0.290414	T	0.56187	0.1968	L	0.58810	1.83	0.09310	N	0.999995	B	0.06786	0.001	B	0.15870	0.014	T	0.25047	-1.0143	10	0.29301	T	0.29	.	1.8428	0.03153	0.1464:0.1719:0.2835:0.3983	.	98	Q02928	CP4AB_HUMAN	K	98	ENSP00000311095:Q98K;ENSP00000360971:Q98K;ENSP00000360972:Q98K	ENSP00000311095:Q98K	Q	-	1	0	CYP4A11	47176300	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-6.648000	0.00058	-0.151000	0.11176	0.552000	0.68991	CAG		0.517	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		10	86	1	0	2.17888e-05	0.006214	2.592e-05	10	86				
TM2D1	83941	broad.mit.edu	37	1	62190779	62190779	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:62190779C>G	ENST00000606498.1	-	1	34	c.14G>C	c.(13-15)tGg>tCg	p.W5S	TM2D1_ENST00000371180.2_Missense_Mutation_p.W67S|TM2D1_ENST00000294613.5_Missense_Mutation_p.W5S|TM2D1_ENST00000371177.2_Missense_Mutation_p.W5S			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	5					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						ACCAGACGGCCAGGCGGCCGC	0.652																																							uc001czz.1		NA																	0				ovary(1)	1						c.(13-15)TGG>TCG		beta-amyloid binding protein precursor							35.0	41.0	39.0					1																	62190779		1909	4092	6001	SO:0001583	missense	83941				apoptosis			g.chr1:62190779C>G	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.14G>C	1.37:g.62190779C>G	ENSP00000475700:p.Trp5Ser						p.W5S	NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN			1	317	-			5					A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37	c.14G>C		.	.	.	.	.	.	.	.	.	.	C	13.35	2.210679	0.39102	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.69	4.69	0.59074	.	1.041710	0.07590	N	0.921834	T	0.46464	0.1394	L	0.47716	1.5	0.19300	N	0.999978	B	0.13594	0.008	B	0.12156	0.007	T	0.34304	-0.9834	9	0.66056	D	0.02	3.1902	13.2914	0.60272	0.0:1.0:0.0:0.0	.	5	Q9BX74	TM2D1_HUMAN	S	67;5;5;5	.	ENSP00000294613:W5S	W	-	2	0	TM2D1	61963367	0.088000	0.21588	0.024000	0.17045	0.035000	0.12851	1.940000	0.40223	2.581000	0.87130	0.462000	0.41574	TGG		0.652	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		7	81	0	0	0	0.004482	0	7	81				
JAK1	3716	broad.mit.edu	37	1	65332689	65332689	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:65332689C>T	ENST00000342505.4	-	7	1098	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	284	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCAAATATTTCAGCACCGTAA	0.398			Mis		ALL																																		uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(850-852)GAA>AAA		janus kinase 1							190.0	176.0	180.0					1																	65332689		1891	4123	6014	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65332689C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.850G>A	1.37:g.65332689C>T	ENSP00000343204:p.Glu284Lys					JAK1_uc009wam.1_Missense_Mutation_p.E272K	p.E284K	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	7	1099	-			284			FERM.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.850G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481669	0.96307	.	.	ENSG00000162434	ENST00000342505	T	0.59502	0.26	5.59	5.59	0.84812	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.74450	0.3718	M	0.79011	2.435	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.76413	-0.2968	9	0.87932	D	0	-7.2926	19.9758	0.97304	0.0:1.0:0.0:0.0	.	284	P23458	JAK1_HUMAN	K	284	ENSP00000343204:E284K	ENSP00000343204:E284K	E	-	1	0	JAK1	65105277	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.277000	0.78572	2.795000	0.96236	0.655000	0.94253	GAA		0.398	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		9	100	0	0	0	0.004482	0	9	100				
LRRC8C	84230	broad.mit.edu	37	1	90180404	90180404	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:90180404G>A	ENST00000370454.4	+	3	2530	c.2275G>A	c.(2275-2277)Gta>Ata	p.V759I	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	759					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTACTTAGATGTAAAAGGTAA	0.393																																							uc001dnl.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(2275-2277)GTA>ATA		leucine rich repeat containing 8 family, member							83.0	84.0	84.0					1																	90180404		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90180404G>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2275G>A	1.37:g.90180404G>A	ENSP00000359483:p.Val759Ile						p.V759I	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	2517	+		all_lung(203;0.126)	759			LRR 16.		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.2275G>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993089	0.19043	.	.	ENSG00000171488	ENST00000370454	T	0.22743	1.94	5.87	3.97	0.46021	.	0.268113	0.37348	N	0.002134	T	0.02888	0.0086	N	0.05351	-0.065	0.28360	N	0.920513	B	0.02656	0.0	B	0.04013	0.001	T	0.35400	-0.9790	10	0.41790	T	0.15	.	4.473	0.11722	0.2734:0.1703:0.5562:0.0	.	759	Q8TDW0	LRC8C_HUMAN	I	759	ENSP00000359483:V759I	ENSP00000359483:V759I	V	+	1	0	LRRC8C	89952992	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	2.269000	0.43346	0.895000	0.36342	0.655000	0.94253	GTA		0.393	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		5	55	0	0	0	0.000602	0	5	55				
CHD1L	9557	broad.mit.edu	37	1	146756095	146756095	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:146756095G>C	ENST00000369258.4	+	16	1797	c.1777G>C	c.(1777-1779)Gaa>Caa	p.E593Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.E389Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.E312Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.E499Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	593					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AAAATCATTTGAACAACTGGT	0.333																																							uc001epm.3		NA																	0				ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(1777-1779)GAA>CAA		chromodomain helicase DNA binding protein							97.0	100.0	99.0					1																	146756095		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146756095G>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1777G>C	1.37:g.146756095G>C	ENSP00000358262:p.Glu593Gln					uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.E480Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.E499Q|CHD1L_uc010ozp.1_Missense_Mutation_p.E312Q|CHD1L_uc001epo.3_Missense_Mutation_p.E389Q|CHD1L_uc010ozq.1_Missense_Mutation_p.E166Q|CHD1L_uc009wji.2_Missense_Mutation_p.E312Q	p.E593Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			16	1840	+	all_hematologic(923;0.0487)		593					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.1777G>C	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424226	0.43020	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89485	-2.52;-1.36;-2.4;-1.51	5.87	4.96	0.65561	.	0.205916	0.49916	D	0.000140	T	0.74997	0.3790	L	0.40543	1.245	0.40526	D	0.980888	P;B;B	0.35011	0.48;0.046;0.025	B;B;B	0.31547	0.132;0.03;0.012	T	0.76639	-0.2885	10	0.41790	T	0.15	.	10.9905	0.47547	0.0853:0.0:0.9147:0.0	.	499;389;593	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	499;389;593;312	ENSP00000389031:E499Q;ENSP00000358263:E389Q;ENSP00000358262:E593Q;ENSP00000355100:E312Q	ENSP00000355100:E312Q	E	+	1	0	CHD1L	145222719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.359000	0.59449	1.498000	0.48600	0.655000	0.94253	GAA		0.333	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		8	88	0	0	0	0.006214	0	8	88				
Unknown	0	broad.mit.edu	37	1	148891528	148891528	+	IGR	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:148891528G>T								RP11-763B22.6 (37811 upstream) : RNA5SP59 (21744 downstream)																							TGTAATTTTAGACCCACCCAA	0.373																																							uc009wkv.1		NA																	0					NA						c.e9-1		Homo sapiens cDNA, FLJ17483.																																				SO:0001628	intergenic_variant	0							g.chr1:148891528G>T																													1.37:g.148891528G>T														9		+									Splice_Site	SNP		37	c.831_splice																																																																																				0	0.373									4	32	1	0	0.00909568	0.009096	0.00980116	4	32				
TARS2	80222	broad.mit.edu	37	1	150477190	150477190	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:150477190G>A	ENST00000369064.3	+	15	1835	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	TARS2_ENST00000369054.2_Missense_Mutation_p.E471K|TARS2_ENST00000606933.1_Missense_Mutation_p.E519K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	601					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGTGCTGGCAGAAAGCTGCGG	0.567																																							uc001euq.2		NA																	0				ovary(1)	1						c.(1801-1803)GAA>AAA		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						105.0	113.0	110.0					1																	150477190		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477190G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1801G>A	1.37:g.150477190G>A	ENSP00000358060:p.Glu601Lys					TARS2_uc001eur.2_Missense_Mutation_p.E519K|TARS2_uc009wlt.2_Missense_Mutation_p.E227K|TARS2_uc009wls.2_Missense_Mutation_p.E471K	p.E601K	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	1808	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		601					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1801G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991259	0.93106	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.19	4.28	0.50868	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.81597	0.4856	H	0.98199	4.17	0.80722	D	1	D;D;D	0.69078	0.973;0.994;0.997	P;P;P	0.56700	0.471;0.804;0.804	D	0.87417	0.2379	9	0.87932	D	0	-3.2322	11.5967	0.50977	0.0858:0.0:0.9142:0.0	.	471;326;601	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	K	471;601;326;326	.	ENSP00000358047:E326K	E	+	1	0	TARS2	148743814	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	9.077000	0.94016	1.435000	0.47434	0.650000	0.86243	GAA		0.567	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		8	153	0	0	0	0.00308	0	8	153				
SEMA6C	10500	broad.mit.edu	37	1	151105617	151105617	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:151105617G>A	ENST00000341697.3	-	19	3827	c.2136C>T	c.(2134-2136)ctC>ctT	p.L712L	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	712					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CGGCGGCGCGGAGGTGCTTGA	0.766																																							uc001ewu.2		NA																	0				ovary(1)|skin(1)	2						c.(2134-2136)CTC>CTT		semaphorin Y precursor							7.0	9.0	8.0					1																	151105617		1586	3200	4786	SO:0001819	synonymous_variant	10500					integral to membrane	receptor activity	g.chr1:151105617G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.2136C>T	1.37:g.151105617G>A						SEMA6C_uc001ewv.2_Silent_p.L744L|SEMA6C_uc001eww.2_Silent_p.L704L|SEMA6C_uc010pcq.1_Missense_Mutation_p.S646F	p.L712L	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	2436	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		712			Cytoplasmic (Potential).		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	c.2136C>T	CCDS984.1																																																																																				0.766	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		7	21	0	0	0	0.00308	0	7	21				
FLG	2312	broad.mit.edu	37	1	152284856	152284856	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:152284856C>T	ENST00000368799.1	-	3	2541	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	836	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCATCTTGGGATGCT	0.587									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2506-2508)GAT>AAT		filaggrin							318.0	316.0	316.0					1																	152284856		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284856C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2506G>A	1.37:g.152284856C>T	ENSP00000357789:p.Asp836Asn					uc001ezv.2_5'Flank	p.D836N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2542	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		836			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2506G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.520	0.868645	0.17322	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	3.44	0.0115	0.14087	.	.	.	.	.	T	0.00552	0.0018	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.38243	-0.9670	9	0.19590	T	0.45	.	10.9252	0.47187	0.0:0.3641:0.6359:0.0	.	836	P20930	FILA_HUMAN	N	836	ENSP00000357789:D836N	ENSP00000357789:D836N	D	-	1	0	FLG	150551480	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.249000	0.08842	0.146000	0.19002	0.479000	0.44913	GAT		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		34	555	0	0	0	0.004878	0	34	555				
INTS3	65123	broad.mit.edu	37	1	153740270	153740270	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:153740270C>T	ENST00000318967.2	+	21	2779	c.2211C>T	c.(2209-2211)ctC>ctT	p.L737L	INTS3_ENST00000456435.1_Silent_p.L531L|INTS3_ENST00000435409.2_Silent_p.L737L|INTS3_ENST00000512605.1_Silent_p.L531L|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	738					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)			ATGTGCGGCTCCTGTGCCACC	0.592																																							uc009wom.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2209-2211)CTC>CTT		integrator complex subunit 3							104.0	86.0	92.0					1																	153740270		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.chr1:153740270C>T	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.2211C>T	1.37:g.153740270C>T						INTS3_uc001fct.2_Silent_p.L737L|INTS3_uc001fcu.2_Silent_p.L429L|INTS3_uc001fcv.2_Silent_p.L531L|INTS3_uc010peb.1_Silent_p.L531L|INTS3_uc001fcw.2_Silent_p.L250L|INTS3_uc010pec.1_Silent_p.L250L|INTS3_uc001fcy.2_Silent_p.L34L|INTS3_uc001fcx.2_Silent_p.L34L	p.L737L	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		22	2432	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		738					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.2211C>T	CCDS1052.1																																																																																				0.592	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		7	74	0	0	0	0.00308	0	7	74				
PKLR	5313	broad.mit.edu	37	1	155264172	155264172	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:155264172C>G	ENST00000342741.4	-	7	1008	c.970G>C	c.(970-972)Gat>Cat	p.D324H	PKLR_ENST00000392414.3_Missense_Mutation_p.D293H	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	324					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.D324N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGATTTCATCAAACCTGAGA	0.562																																							uc001fkb.3		NA																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(1)	5						c.(970-972)GAT>CAT		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						70.0	66.0	67.0					1																	155264172		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264172C>G	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.970G>C	1.37:g.155264172C>G	ENSP00000339933:p.Asp324His					RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.D293H	p.D324H	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		7	1009	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		324					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.970G>C	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135998	0.77662	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99685	-6.4;-6.4	5.13	4.21	0.49690	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.100457	0.64402	D	0.000002	D	0.99667	0.9876	M	0.92970	3.365	0.80722	D	1	D;D	0.57257	0.979;0.979	P;P	0.62885	0.908;0.908	D	0.97760	1.0220	10	0.87932	D	0	-15.1998	11.7763	0.51987	0.0:0.9144:0.0:0.0856	.	324;315	P30613;B1AVT1	KPYR_HUMAN;.	H	349;293;324;238	ENSP00000376214:D293H;ENSP00000339933:D324H	ENSP00000271946:D238H	D	-	1	0	PKLR	153530796	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.797000	0.69087	1.530000	0.49136	0.655000	0.94253	GAT		0.562	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		5	48	0	0	0	0.000602	0	5	48				
RUSC1	23623	broad.mit.edu	37	1	155292113	155292113	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:155292113C>A	ENST00000368352.5	+	2	700	c.549C>A	c.(547-549)aaC>aaA	p.N183K	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000292254.4_5'Flank|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.N183K	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	183					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CGAACTGCAACGCCCTGACCA	0.627																																							uc001fkj.2		NA																	0				ovary(2)	2						c.(547-549)AAC>AAA		RUN and SH3 domain containing 1 isoform a							52.0	55.0	54.0					1																	155292113		2037	4202	6239	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292113C>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.549C>A	1.37:g.155292113C>A	ENSP00000357336:p.Asn183Lys					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.N183K|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	p.N183K	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	778	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		183					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.549C>A	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194495	0.58017	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.32515	1.49;1.45	4.7	-2.19	0.07015	.	0.000000	0.53938	D	0.000047	T	0.18676	0.0448	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	P	0.61592	0.891	T	0.09079	-1.0691	10	0.87932	D	0	-13.9962	10.1145	0.42583	0.0:0.2616:0.0:0.7384	.	183	Q9BVN2	RUSC1_HUMAN	K	183	ENSP00000357338:N183K;ENSP00000357336:N183K	ENSP00000357336:N183K	N	+	3	2	RUSC1	153558737	0.726000	0.28059	0.987000	0.45799	0.984000	0.73092	-0.266000	0.08631	-0.275000	0.09219	-0.254000	0.11334	AAC		0.627	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			6	104	1	0	0.00307968	0.00308	0.0034034	6	104				
NES	10763	broad.mit.edu	37	1	156640010	156640010	+	Nonsense_Mutation	SNP	G	G	A	rs376784270		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:156640010G>A	ENST00000368223.3	-	4	4102	c.3970C>T	c.(3970-3972)Caa>Taa	p.Q1324*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1324	Tail.			DPTGEQRPPPQG -> TPLESRGHPLK (in Ref. 1; CAA46780). {ECO:0000305}.	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)					GTCTCCCCTTGAGGGGGTGGC	0.662																																							uc001fpq.2		NA																	0				ovary(6)	6						c.(3970-3972)CAA>TAA		nestin							54.0	64.0	60.0					1																	156640010		2203	4300	6503	SO:0001587	stop_gained	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.chr1:156640010G>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.3970C>T	1.37:g.156640010G>A	ENSP00000357206:p.Gln1324*						p.Q1324*	NM_006617	NP_006608	P48681	NEST_HUMAN			4	4103	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1324	DPTGEQRPPPQG -> TPLESRGHPLK (in Ref. 1; CAA46780).		Tail.		O00552|Q3LIF5|Q5SYZ6	Nonsense_Mutation	SNP	ENST00000368223.3	37	c.3970C>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	38	7.232251	0.98154	.	.	ENSG00000132688	ENST00000368223	.	.	.	4.95	3.97	0.46021	.	0.000000	0.31061	N	0.008328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.454	0.61189	0.0:0.1584:0.8416:0.0	.	.	.	.	X	1324	.	ENSP00000357206:Q1324X	Q	-	1	0	NES	154906634	0.193000	0.23313	0.608000	0.28969	0.027000	0.11550	1.566000	0.36396	2.285000	0.76669	0.557000	0.71058	CAA		0.662	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		8	136	0	0	0	0.00308	0	8	136				
INSRR	3645	broad.mit.edu	37	1	156823675	156823675	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:156823675C>G	ENST00000368195.3	-	2	902	c.506G>C	c.(505-507)gGc>gCc	p.G169A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	169					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCTTGTTGCCCACGATGTG	0.637																																							uc010pht.1		NA																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(505-507)GGC>GCC		insulin receptor-related receptor precursor							76.0	64.0	68.0					1																	156823675		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823675C>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.506G>C	1.37:g.156823675C>G	ENSP00000357178:p.Gly169Ala					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.G169A	p.G169A	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	760	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		169					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.506G>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.691186	0.30052	.	.	ENSG00000027644	ENST00000368195	T	0.73575	-0.76	5.11	4.14	0.48551	.	0.000000	0.47093	D	0.000245	T	0.36524	0.0970	.	.	.	0.45354	D	0.998342	P	0.38473	0.633	B	0.24006	0.05	T	0.43669	-0.9377	9	0.13853	T	0.58	.	12.7525	0.57316	0.0:0.8334:0.1666:0.0	.	169	P14616	INSRR_HUMAN	A	169	ENSP00000357178:G169A	ENSP00000357178:G169A	G	-	2	0	INSRR	155090299	0.631000	0.27164	1.000000	0.80357	0.980000	0.70556	1.103000	0.31062	2.381000	0.81170	0.557000	0.71058	GGC		0.637	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		11	29	0	0	0	0.010729	0	11	29				
OR10Z1	128368	broad.mit.edu	37	1	158576991	158576991	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:158576991G>C	ENST00000361284.1	+	1	763	c.763G>C	c.(763-765)Gct>Cct	p.A255P		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TTATGGCTGTGCTTCCTTCGT	0.512																																							uc010pio.1		NA																	0				pancreas(1)|skin(1)	2						c.(763-765)GCT>CCT		olfactory receptor, family 10, subfamily Z,							197.0	201.0	199.0					1																	158576991		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576991G>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.763G>C	1.37:g.158576991G>C	ENSP00000354707:p.Ala255Pro						p.A255P	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	763	+	all_hematologic(112;0.0378)		255			Helical; Name=6; (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.763G>C	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980655	0.53827	.	.	ENSG00000198967	ENST00000361284	T	0.00198	8.57	5.05	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38058	N	0.001833	T	0.00356	0.0011	M	0.93420	3.415	0.30120	N	0.805737	D	0.69078	0.997	D	0.67725	0.953	T	0.05037	-1.0910	10	0.66056	D	0.02	.	10.1313	0.42680	0.0:0.1489:0.6972:0.1539	.	255	Q8NGY1	O10Z1_HUMAN	P	255	ENSP00000354707:A255P	ENSP00000354707:A255P	A	+	1	0	OR10Z1	156843615	0.207000	0.23482	1.000000	0.80357	0.758000	0.43043	2.052000	0.41316	1.319000	0.45190	0.650000	0.86243	GCT		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		52	223	0	0	0	0.00361	0	52	223				
UAP1	6675	broad.mit.edu	37	1	162557435	162557435	+	Silent	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:162557435A>T	ENST00000367925.1	+	5	1037	c.1005A>T	c.(1003-1005)gtA>gtT	p.V335V	UAP1_ENST00000367924.1_Silent_p.V335V|UAP1_ENST00000367926.4_Silent_p.V335V|UAP1_ENST00000271469.3_Silent_p.V335V			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	335					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCTTCACTGTACCATTTCTGA	0.418																																							uc001gce.3		NA																	0				ovary(2)|skin(2)|kidney(1)	5						c.(1003-1005)GTA>GTT		UDP-N-acetylglucosamine pyrophosphorylase 1							149.0	152.0	151.0					1																	162557435		2203	4300	6503	SO:0001819	synonymous_variant	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162557435A>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1005A>T	1.37:g.162557435A>T							p.V335V	NM_003115	NP_003106	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		6	1334	+	all_hematologic(112;0.115)		335					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37	c.1005A>T																																																																																					0.418	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		15	148	0	0	0	0.004007	0	15	148				
SLC19A2	10560	broad.mit.edu	37	1	169439421	169439421	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:169439421G>A	ENST00000236137.5	-	3	1047	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	SLC19A2_ENST00000367804.4_Missense_Mutation_p.P70S	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	271					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	TCTGGCTTGGGTTCCTACATA	0.443																																							uc001gge.3		NA																	0					0						c.(811-813)CCC>TCC		solute carrier family 19, member 2							69.0	69.0	69.0					1																	169439421		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169439421G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.811C>T	1.37:g.169439421G>A	ENSP00000236137:p.Pro271Ser					SLC19A2_uc001ggf.3_Missense_Mutation_p.P70S	p.P271S	NM_006996	NP_008927	O60779	S19A2_HUMAN			3	1015	-	all_hematologic(923;0.208)		271			Cytoplasmic (Potential).		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.811C>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.866139	0.17250	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.85088	-1.94;-1.94;-1.94	5.87	-3.72	0.04411	Major facilitator superfamily domain, general substrate transporter (1);	1.018850	0.07788	N	0.954474	T	0.44350	0.1289	N	0.10664	0.02	0.38589	D	0.950385	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.03922	-1.0992	9	0.11794	T	0.64	-0.0023	9.6516	0.39902	0.2113:0.5269:0.2617:0.0	.	70;271	O60779-2;O60779	.;S19A2_HUMAN	S	271;70;233	ENSP00000236137:P271S;ENSP00000356778:P70S;ENSP00000356776:P233S	ENSP00000236137:P271S	P	-	1	0	SLC19A2	167706045	0.347000	0.24853	0.042000	0.18584	0.917000	0.54804	0.010000	0.13242	-0.577000	0.05967	0.585000	0.79938	CCC		0.443	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		4	61	0	0	0	0.009096	0	4	61				
RASAL2	9462	broad.mit.edu	37	1	178421649	178421649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:178421649C>G	ENST00000462775.1	+	9	1552	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	RASAL2_ENST00000367649.3_Nonsense_Mutation_p.S624*|RASAL2_ENST00000448150.3_Nonsense_Mutation_p.S606*	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	476	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCAGTGCCTCATTATTTCTC	0.478																																							uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(1426-1428)TCA>TGA		RAS protein activator like 2 isoform 1							289.0	244.0	259.0					1																	178421649		2203	4300	6503	SO:0001587	stop_gained	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178421649C>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1427C>G	1.37:g.178421649C>G	ENSP00000420558:p.Ser476*					RASAL2_uc001glq.2_Nonsense_Mutation_p.S624*|RASAL2_uc009wxc.2_5'UTR	p.S476*	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			9	1552	+			476			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Nonsense_Mutation	SNP	ENST00000462775.1	37	c.1427C>G	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	40	8.406282	0.98796	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6427	0.91400	0.0:1.0:0.0:0.0	.	.	.	.	X	606;624;476	.	ENSP00000356621:S624X	S	+	2	0	RASAL2	176688272	1.000000	0.71417	0.943000	0.38184	0.849000	0.48306	5.971000	0.70440	2.381000	0.81170	0.557000	0.71058	TCA		0.478	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		10	200	0	0	0	0.006214	0	10	200				
CAMSAP2	23271	broad.mit.edu	37	1	200776585	200776585	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:200776585G>T	ENST00000236925.4	+	3	530	c.481G>T	c.(481-483)Gct>Tct	p.A161S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A161S|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.A161S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	161					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AATTGCGTGTGCTCAGCAGTA	0.383																																							uc001gvl.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(481-483)GCT>TCT		calmodulin regulated spectrin-associated protein							128.0	118.0	121.0					1																	200776585		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200776585G>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.481G>T	1.37:g.200776585G>T	ENSP00000236925:p.Ala161Ser					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.A161S|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.A161S	p.A161S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			3	751	+			161					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.481G>T		.	.	.	.	.	.	.	.	.	.	G	15.91	2.971551	0.53614	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14391	2.52;2.51;2.51	4.97	4.97	0.65823	.	0.231982	0.46758	D	0.000269	T	0.06690	0.0171	N	0.03608	-0.345	0.28308	N	0.922818	B;B;B	0.31548	0.082;0.062;0.328	B;B;B	0.28011	0.058;0.036;0.085	T	0.16897	-1.0387	10	0.87932	D	0	-22.5724	12.2541	0.54615	0.0884:0.0:0.9116:0.0	.	161;161;161	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	161	ENSP00000351684:A161S;ENSP00000416800:A161S;ENSP00000236925:A161S	ENSP00000236925:A161S	A	+	1	0	CAMSAP1L1	199043208	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.123000	0.57917	2.591000	0.87537	0.563000	0.77884	GCT		0.383	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		7	43	1	0	8.12818e-05	0.001984	9.4384e-05	7	43				
CHIT1	1118	broad.mit.edu	37	1	203186907	203186907	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:203186907C>T	ENST00000367229.1	-	10	1150	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.Q353Q|CHIT1_ENST00000535569.1_Silent_p.Q363Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	372					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						GGTATCGGCCCTGGTTGCAGG	0.597																																							uc001gzn.2		NA																	0					0						c.(1114-1116)CAG>CAA		chitotriosidase precursor							65.0	58.0	61.0					1																	203186907		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186907C>T	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.1116G>A	1.37:g.203186907C>T						FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Splice_Site_p.G135_splice|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.Q363Q	p.Q372Q	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			10	1212	-			372					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.1116G>A	CCDS1436.1																																																																																				0.597	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		4	61	0	0	0	0.000602	0	4	61				
ARF1	375	broad.mit.edu	37	1	228285621	228285621	+	Silent	SNP	G	G	A	rs146827674	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:228285621G>A	ENST00000541182.1	+	5	715	c.453G>A	c.(451-453)agG>agA	p.R151R	ARF1_ENST00000272102.5_Silent_p.R151R|ARF1_ENST00000478424.1_3'UTR|C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000540651.1_Silent_p.R151R|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	151					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.R151R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TACGCCACAGGAACTGGTACA	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17469	0.0		0.0	False		,,,				2504	0.0						uc001hrr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)AGG>AGA		ADP-ribosylation factor 1		A	,,,	1,4405	2.1+/-5.4	0,1,2202	78.0	72.0	74.0		453,453,453,453	2.3	1.0	1	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARF1	NM_001024226.1,NM_001024227.1,NM_001024228.1,NM_001658.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	151/182,151/182,151/182,151/182	228285621	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285621G>A	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.453G>A	1.37:g.228285621G>A						ARF1_uc001hrs.2_Silent_p.R151R|ARF1_uc001hrt.2_Missense_Mutation_p.E73K|ARF1_uc009xev.2_RNA|ARF1_uc001hru.2_Silent_p.R151R|ARF1_uc001hrv.2_Silent_p.R151R|ARF1_uc001hrw.2_Silent_p.R151R	p.R151R	NM_001024226	NP_001019397	P84077	ARF1_HUMAN			5	681	+		Prostate(94;0.0405)	151					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.453G>A	CCDS1565.1																																																																																				0.617	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		4	60	0	0	0	0.009096	0	4	60				
SIPA1L2	57568	broad.mit.edu	37	1	232600659	232600659	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:232600659C>G	ENST00000366630.1	-	8	3105	c.2747G>C	c.(2746-2748)aGa>aCa	p.R916T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R916T|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	916					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACATTCTCCTCTTTCGTAAAA	0.413																																							uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2746-2748)AGA>ACA		signal-induced proliferation-associated 1 like							86.0	83.0	84.0					1																	232600659		1961	4157	6118	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600659C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2747G>C	1.37:g.232600659C>G	ENSP00000355589:p.Arg916Thr					SIPA1L2_uc001hvf.2_5'Flank	p.R916T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			7	2905	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	916					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2747G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728934	0.89390	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.82711	-1.64;-1.64	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.91385	0.7282	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.90884	0.4756	10	0.59425	D	0.04	-26.384	20.3437	0.98782	0.0:1.0:0.0:0.0	.	916	Q9P2F8	SI1L2_HUMAN	T	916	ENSP00000355589:R916T;ENSP00000262861:R916T	ENSP00000262861:R916T	R	-	2	0	SIPA1L2	230667282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.037000	0.70956	2.815000	0.96918	0.561000	0.74099	AGA		0.413	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	53	0	0	0	0.000602	0	4	53				
PCNXL2	80003	broad.mit.edu	37	1	233161085	233161085	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:233161085C>A	ENST00000258229.9	-	26	4646	c.4412G>T	c.(4411-4413)gGc>gTc	p.G1471V	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G123V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1471						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAGCAGCAGCCTCTGTCCTC	0.587											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001hvl.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(4411-4413)GGC>GTC		pecanex-like 2							88.0	98.0	95.0					1																	233161085		2196	4289	6485	SO:0001583	missense	80003					integral to membrane		g.chr1:233161085C>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4412G>T	1.37:g.233161085C>A	ENSP00000258229:p.Gly1471Val		OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2363	PCNXL2_uc001hvk.1_Missense_Mutation_p.G123V|PCNXL2_uc001hvm.1_Intron	p.G1471V	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			26	4647	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1471					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4412G>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737244	0.69304	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26067	1.76;2.87	5.77	4.86	0.63082	.	0.339357	0.36854	N	0.002372	T	0.37433	0.1003	M	0.74467	2.265	0.80722	D	1	P;D	0.55800	0.923;0.973	P;P	0.49226	0.603;0.597	T	0.35475	-0.9787	10	0.87932	D	0	.	11.0719	0.48008	0.0:0.8589:0.0:0.1411	.	1471;123	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	V	123;1471	ENSP00000340759:G123V;ENSP00000258229:G1471V	ENSP00000258229:G1471V	G	-	2	0	PCNXL2	231227708	0.999000	0.42202	0.998000	0.56505	0.985000	0.73830	1.720000	0.38022	1.584000	0.49913	0.655000	0.94253	GGC		0.587	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		10	81	1	0	0.000442599	0.006214	0.000499047	10	81				
NID1	4811	broad.mit.edu	37	1	236205225	236205225	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:236205225C>G	ENST00000264187.6	-	4	1202	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	NID1_ENST00000366595.3_Missense_Mutation_p.E374Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	374					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCTGTTTCCTCAACTTCATCC	0.512																																							uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1120-1122)GAG>CAG		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						66.0	68.0	67.0					1																	236205225		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205225C>G	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1120G>C	1.37:g.236205225C>G	ENSP00000264187:p.Glu374Gln					NID1_uc009xgd.2_Missense_Mutation_p.E374Q	p.E374Q	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	1222	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	374					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1120G>C	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593983	0.46214	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88586	-1.73;-2.4	5.81	5.81	0.92471	.	0.837731	0.11123	N	0.597177	D	0.92469	0.7609	M	0.61703	1.905	0.39476	D	0.967807	D;B	0.67145	0.996;0.06	P;B	0.58266	0.836;0.065	D	0.88217	0.2894	10	0.17832	T	0.49	.	18.2504	0.90000	0.0:1.0:0.0:0.0	.	374;374	P14543-2;P14543	.;NID1_HUMAN	Q	374	ENSP00000264187:E374Q;ENSP00000355554:E374Q	ENSP00000264187:E374Q	E	-	1	0	NID1	234271848	0.994000	0.37717	0.965000	0.40720	0.393000	0.30537	3.458000	0.53014	2.749000	0.94314	0.563000	0.77884	GAG		0.512	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		11	67	0	0	0	0.010729	0	11	67				
OR2L13	284521	broad.mit.edu	37	1	248263108	248263108	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248263108T>C	ENST00000358120.2	+	2	576	c.431T>C	c.(430-432)aTt>aCt	p.I144T	OR2L13_ENST00000366478.2_Missense_Mutation_p.I144T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			GTGAAGATGATTGGAGGCTCT	0.488																																							uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(430-432)ATT>ACT		olfactory receptor, family 2, subfamily L,							252.0	223.0	233.0					1																	248263108		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263108T>C	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.431T>C	1.37:g.248263108T>C	ENSP00000350836:p.Ile144Thr						p.I144T	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	768	+	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)		144			Helical; Name=4; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.431T>C	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	0.060	-1.227266	0.01518	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.43688	0.94;0.94	3.98	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.280952	0.25425	N	0.030774	T	0.28034	0.0691	L	0.37897	1.145	0.09310	N	1	B	0.17038	0.02	B	0.27076	0.076	T	0.19095	-1.0316	10	0.17369	T	0.5	.	4.5204	0.11956	0.0:0.1846:0.1681:0.6473	.	144	Q8N349	OR2LD_HUMAN	T	144	ENSP00000355434:I144T;ENSP00000350836:I144T	ENSP00000350836:I144T	I	+	2	0	OR2L13	246329731	0.000000	0.05858	0.568000	0.28447	0.014000	0.08584	0.016000	0.13377	0.668000	0.31126	0.528000	0.53228	ATT		0.488	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		26	206	0	0	0	0.003954	0	26	206				
OR14C36	127066	broad.mit.edu	37	1	248512634	248512634	+	Silent	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248512634T>G	ENST00000317861.1	+	1	558	c.558T>G	c.(556-558)tcT>tcG	p.S186S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGAAGCTCTCTTGCTCTGACA	0.493																																							uc010pzl.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(556-558)TCT>TCG		olfactory receptor, family 14, subfamily C,							162.0	145.0	151.0					1																	248512634		2203	4300	6503	SO:0001819	synonymous_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512634T>G	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.558T>G	1.37:g.248512634T>G							p.S186S	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	558	+			186			Extracellular (Potential).		Q6IEZ6	Silent	SNP	ENST00000317861.1	37	c.558T>G	CCDS31112.1																																																																																				0.493	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		10	78	0	0	0	0.008291	0	10	78				
OR2T2	401992	broad.mit.edu	37	1	248616344	248616344	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248616344G>T	ENST00000342927.3	+	1	268	c.246G>T	c.(244-246)atG>atT	p.M82I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M82I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCCAAGATGCTCCAGGACC	0.527																																							uc001iek.1		NA																	1	Substitution - Missense(1)		kidney(1)	skin(1)	1						c.(244-246)ATG>ATT		olfactory receptor, family 2, subfamily T,							140.0	165.0	157.0					1																	248616344		2203	4297	6500	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616344G>T	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.246G>T	1.37:g.248616344G>T	ENSP00000343062:p.Met82Ile						p.M82I	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	246	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		82			Extracellular (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.246G>T	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	g	9.422	1.083399	0.20309	.	.	ENSG00000196240	ENST00000342927	T	0.05513	3.43	3.48	0.404	0.16355	GPCR, rhodopsin-like superfamily (1);	0.115594	0.39687	N	0.001287	T	0.06462	0.0166	M	0.68593	2.085	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.33954	-0.9848	10	0.87932	D	0	.	1.391	0.02250	0.2055:0.1681:0.4544:0.172	.	82	Q6IF00	OR2T2_HUMAN	I	82	ENSP00000343062:M82I	ENSP00000343062:M82I	M	+	3	0	OR2T2	246682967	0.000000	0.05858	0.172000	0.22920	0.932000	0.56968	-0.050000	0.11904	-0.101000	0.12219	0.298000	0.19748	ATG		0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		10	201	1	0	3.27435e-08	0.00245	4.21763e-08	10	201				
OR2G6	391211	broad.mit.edu	37	1	248685329	248685329	+	Silent	SNP	C	C	A	rs368580506		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248685329C>A	ENST00000343414.4	+	1	414	c.382C>A	c.(382-384)Cgg>Agg	p.R128R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGTCTGCCGGCCACTGCG	0.597																																							uc001ien.1		NA																	0				ovary(2)|skin(1)	3						c.(382-384)CGG>AGG		olfactory receptor, family 2, subfamily G,							67.0	60.0	62.0					1																	248685329		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685329C>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.382C>A	1.37:g.248685329C>A							p.R128R	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	382	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	128			Cytoplasmic (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.382C>A	CCDS31119.1																																																																																				0.597	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		17	57	1	0	1.15088e-07	0.004007	1.45828e-07	17	57				
ANKRD30A	91074	broad.mit.edu	37	10	37422873	37422873	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:37422873G>A	ENST00000602533.1	+	5	578	c.479G>A	c.(478-480)gGa>gAa	p.G160E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G160E|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.G160E|RNU6-811P_ENST00000384069.1_RNA			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	216					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTATGTCATGGATCATCAGAG	0.378																																							uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(478-480)GGA>GAA		ankyrin repeat domain 30A							207.0	190.0	196.0					10																	37422873		1913	4131	6044	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37422873G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.479G>A	10.37:g.37422873G>A	ENSP00000473551:p.Gly160Glu						p.G160E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			5	578	+			216			ANK 5.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.479G>A		.	.	.	.	.	.	.	.	.	.	.	10.30	1.311673	0.23821	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.77098	-1.07;-0.69	1.43	0.128	0.14733	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.80454	0.4626	M	0.62154	1.92	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.66208	-0.5981	9	0.17832	T	0.49	.	3.1608	0.06520	0.6912:0.0:0.3088:0.0	.	216	Q9BXX3	AN30A_HUMAN	E	160	ENSP00000354432:G160E;ENSP00000363792:G160E	ENSP00000354432:G160E	G	+	2	0	ANKRD30A	37462879	0.000000	0.05858	0.011000	0.14972	0.129000	0.20672	0.254000	0.18314	-0.112000	0.11979	0.289000	0.19496	GGA		0.378	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		11	137	0	0	0	0.001368	0	11	137				
ZNF248	57209	broad.mit.edu	37	10	38121209	38121209	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:38121209C>G	ENST00000395867.3	-	6	1624	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Silent_p.G358G|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGAAATTACTCCCATTTTCAT	0.403																																							uc001izd.1		NA																	0				ovary(1)	1						c.(1072-1074)GGG>GGC		zinc finger protein 248							108.0	102.0	104.0					10																	38121209		2203	4299	6502	SO:0001819	synonymous_variant	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121209C>G	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1074G>C	10.37:g.38121209C>G						ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Silent_p.G358G	p.G358G	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			6	1573	-			358					Q8NDV8|Q9UMP3	Silent	SNP	ENST00000395867.3	37	c.1074G>C	CCDS7194.1																																																																																				0.403	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		29	89	0	0	0	0.005443	0	29	89				
C10orf53	282966	broad.mit.edu	37	10	50916560	50916560	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:50916560G>A	ENST00000374112.3	+	3	383	c.371G>A	c.(370-372)gGa>gAa	p.G124E	C10orf53_ENST00000535836.1_Missense_Mutation_p.G124E	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				gcccagattggatcatgtatc	0.488																																							uc001jid.1		NA																	0					0						c.(370-372)GGA>GAA		chromosome 10 open reading frame 53 isoform a							158.0	154.0	155.0					10																	50916560		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50916560G>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.371G>A	10.37:g.50916560G>A	ENSP00000363226:p.Gly124Glu						p.G124E	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN			3	431	+		all_neural(218;0.107)	Error:Variant_position_missing_in_Q8N6V4_after_alignment					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374112.3	37	c.371G>A	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956907	0.18507	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.87	-0.156	0.13391	.	.	.	.	.	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.17979	0.02	T	0.21690	-1.0238	8	0.87932	D	0	.	4.8695	0.13625	0.3075:0.0:0.6925:0.0	.	124	B9ZVK6	.	E	124	.	ENSP00000363226:G124E	G	+	2	0	C10orf53	50586566	0.041000	0.20044	0.002000	0.10522	0.069000	0.16628	0.107000	0.15375	-0.043000	0.13513	0.491000	0.48974	GGA		0.488	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	NM_182554		19	181	0	0	0	0.007413	0	19	181				
BICC1	80114	broad.mit.edu	37	10	60566792	60566792	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:60566792G>A	ENST00000373886.3	+	17	2254	c.2250G>A	c.(2248-2250)gaG>gaA	p.E750E	BICC1_ENST00000263103.1_Silent_p.E376E	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	750					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGGTGACGGAGGTCAGAACGC	0.398																																							uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2248-2250)GAG>GAA		bicaudal C homolog 1							90.0	85.0	87.0					10																	60566792		2203	4300	6503	SO:0001819	synonymous_variant	80114				multicellular organismal development		RNA binding	g.chr10:60566792G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2250G>A	10.37:g.60566792G>A						BICC1_uc001jkj.1_Silent_p.E391E	p.E750E	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			17	2250	+			750						Silent	SNP	ENST00000373886.3	37	c.2250G>A	CCDS31206.1																																																																																				0.398	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		7	48	0	0	0	0.00308	0	7	48				
MYPN	84665	broad.mit.edu	37	10	69926137	69926137	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:69926137C>A	ENST00000358913.5	+	10	2175	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	MYPN_ENST00000540630.1_Missense_Mutation_p.P563T|MYPN_ENST00000354393.2_Missense_Mutation_p.P288T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	563					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCCTCCCCACCCCACTCAGA	0.572																																							uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(1687-1689)CCC>ACC		myopalladin							68.0	61.0	63.0					10																	69926137		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69926137C>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1687C>A	10.37:g.69926137C>A	ENSP00000351790:p.Pro563Thr					MYPN_uc001jnl.1_Missense_Mutation_p.P563T|MYPN_uc001jnn.3_Missense_Mutation_p.P288T|MYPN_uc001jno.3_Missense_Mutation_p.P563T|MYPN_uc009xps.2_Missense_Mutation_p.P563T|MYPN_uc009xpt.2_Missense_Mutation_p.P563T|MYPN_uc010qit.1_Missense_Mutation_p.P269T|MYPN_uc010qiu.1_RNA	p.P563T	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			11	1872	+			563					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1687C>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	0.092	-1.164956	0.01673	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59772	0.24;0.29;0.27	5.29	5.29	0.74685	.	0.424874	0.26227	N	0.025597	T	0.47340	0.1440	N	0.19112	0.55	0.30394	N	0.780718	P;B;B	0.35272	0.493;0.082;0.22	B;B;B	0.37989	0.262;0.036;0.036	T	0.45891	-0.9230	9	.	.	.	.	18.9468	0.92625	0.0:1.0:0.0:0.0	.	563;288;563	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	T	288;288;563;563	ENSP00000346369:P288T;ENSP00000351790:P563T;ENSP00000441668:P563T	.	P	+	1	0	MYPN	69596143	0.161000	0.22892	0.998000	0.56505	0.206000	0.24218	1.152000	0.31663	2.455000	0.83008	0.655000	0.94253	CCC		0.572	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		11	42	1	0	5.16669e-11	0.010729	6.90667e-11	11	42				
COL13A1	1305	broad.mit.edu	37	10	71707089	71707089	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:71707089G>A	ENST00000398978.3	+	37	2508	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	COL13A1_ENST00000398974.3_Silent_p.K660K|COL13A1_ENST00000398971.3_Silent_p.K657K|COL13A1_ENST00000522165.1_Silent_p.K641K|COL13A1_ENST00000398966.3_Silent_p.K650K|COL13A1_ENST00000398972.3_Silent_p.K658K|COL13A1_ENST00000520267.1_Silent_p.K600K|COL13A1_ENST00000356340.3_Silent_p.K672K|COL13A1_ENST00000354547.3_Silent_p.K650K|COL13A1_ENST00000517713.1_Silent_p.K623K|COL13A1_ENST00000398968.3_Silent_p.K653K|COL13A1_ENST00000520133.1_Silent_p.K594K|COL13A1_ENST00000398969.3_Silent_p.K600K|COL13A1_ENST00000357811.3_Silent_p.K638K|COL13A1_ENST00000398973.3_Silent_p.K646K|COL13A1_ENST00000398964.3_Silent_p.K643K	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCGGGGACAAGGGAAACCGGG	0.527																																							uc001jpr.1		NA																	0				ovary(1)	1						c.(2014-2016)AAG>AAA		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						86.0	88.0	87.0					10																	71707089		1906	4110	6016	SO:0001819	synonymous_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71707089G>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.2016G>A	10.37:g.71707089G>A						COL13A1_uc001jqj.1_Silent_p.K645K|COL13A1_uc001jps.1_Silent_p.K643K|COL13A1_uc001jpt.1_Silent_p.K631K|COL13A1_uc001jpu.1_Silent_p.K641K|COL13A1_uc001jpv.1_Silent_p.K646K|COL13A1_uc001jpx.1_Silent_p.K623K|COL13A1_uc001jpw.1_Silent_p.K619K|COL13A1_uc001jpy.1_Silent_p.K610K|COL13A1_uc001jpz.1_Silent_p.K615K|COL13A1_uc001jqa.1_Silent_p.K612K|COL13A1_uc001jqc.1_Silent_p.K657K|COL13A1_uc001jqb.1_Silent_p.K594K|COL13A1_uc001jql.2_Silent_p.K672K|COL13A1_uc001jqd.1_Silent_p.K660K|COL13A1_uc001jqe.1_Silent_p.K655K|COL13A1_uc001jqf.1_Silent_p.K653K|COL13A1_uc001jqg.1_Silent_p.K650K|COL13A1_uc001jqh.1_Silent_p.K660K|COL13A1_uc001jqi.1_Silent_p.K658K|COL13A1_uc010qjf.1_Silent_p.K447K	p.K672K	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			36	2552	+			672			Extracellular (Potential).|Triple-helical region 3 (COL3).			Silent	SNP	ENST00000398978.3	37	c.2016G>A	CCDS44419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.760|8.760	0.923272|0.923272	0.18056|0.18056	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000456019|ENST00000398975	.|.	.|.	.|.	6.03|6.03	2.46|2.46	0.29980|0.29980	.|.	.|.	.|.	.|.	.|.	T|T	0.58949|0.58949	0.2158|0.2158	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51379|0.51379	-0.8713|-0.8713	4|4	.|.	.|.	.|.	-6.8058|-6.8058	10.084|10.084	0.42406|0.42406	0.5921:0.0:0.4079:0.0|0.5921:0.0:0.4079:0.0	.|.	.|.	.|.	.|.	R|K	129|202	.|.	.|.	G|R	+|+	1|2	0|0	COL13A1|COL13A1	71377095|71377095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	2.019000|2.019000	0.41001|0.41001	0.176000|0.176000	0.19873|0.19873	-0.793000|-0.793000	0.03317|0.03317	GGG|AGG		0.527	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		6	48	0	0	0	0.001984	0	6	48				
H2AFY2	55506	broad.mit.edu	37	10	71851671	71851671	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:71851671G>A	ENST00000373255.4	+	4	702	c.438G>A	c.(436-438)ggG>ggA	p.G146G		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	146	Lys-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						AGAAGGGGGGGAAGAAATCCA	0.587																																							uc001jqm.2		NA																	0				skin(1)	1						c.(436-438)GGG>GGA		H2A histone family, member Y2							70.0	67.0	68.0					10																	71851671		2203	4300	6503	SO:0001819	synonymous_variant	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71851671G>A	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.438G>A	10.37:g.71851671G>A						H2AFY2_uc001jqn.2_RNA	p.G146G	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN			4	897	+			146			Lys-rich.		Q5SQT2	Silent	SNP	ENST00000373255.4	37	c.438G>A	CCDS7296.1																																																																																				0.587	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		4	44	0	0	0	0.000602	0	4	44				
SGPL1	8879	broad.mit.edu	37	10	72633268	72633268	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:72633268C>T	ENST00000373202.3	+	12	1420	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	407					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TGTTGGGCTGCCTTGATGCAC	0.522																																					Colon(151;1054 2458 6676 40971)	Colon(151;1054 2458 6676 40971)	uc001jrm.2		NA																	0					0						c.(1219-1221)GCC>GTC		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						141.0	125.0	130.0					10																	72633268		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72633268C>T	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1220C>T	10.37:g.72633268C>T	ENSP00000362298:p.Ala407Val					SGPL1_uc009xqk.2_RNA	p.A407V	NM_003901	NP_003892	O95470	SGPL1_HUMAN			12	1442	+			407			Cytoplasmic (Potential).		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.1220C>T	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884605	0.91814	.	.	ENSG00000166224	ENST00000373202	T	0.32753	1.44	5.73	5.73	0.89815	Pyridoxal phosphate-dependent transferase, major domain (1);	0.252037	0.46758	D	0.000271	T	0.25680	0.0625	N	0.11313	0.125	0.45025	D	0.998043	B	0.18968	0.032	B	0.32393	0.145	T	0.12553	-1.0543	10	0.56958	D	0.05	-4.5309	19.9064	0.97008	0.0:1.0:0.0:0.0	.	407	O95470	SGPL1_HUMAN	V	407	ENSP00000362298:A407V	ENSP00000362298:A407V	A	+	2	0	SGPL1	72303274	0.982000	0.34865	0.919000	0.36401	0.998000	0.95712	7.456000	0.80751	2.693000	0.91896	0.655000	0.94253	GCC		0.522	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		6	114	0	0	0	0.001168	0	6	114				
SEC24C	9632	broad.mit.edu	37	10	75525632	75525632	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:75525632C>T	ENST00000339365.2	+	11	1603	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L362L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.L481L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	481					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)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|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)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGAGCTATCCCTGGGCTCTTA	0.517																																							uc001juw.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1441-1443)CTG>TTG		SEC24-related protein C							202.0	185.0	191.0					10																	75525632		2203	4300	6503	SO:0001819	synonymous_variant	9632				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	protein binding|zinc ion binding	g.chr10:75525632C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1441C>T	10.37:g.75525632C>T						SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Silent_p.L339L|SEC24C_uc001jux.2_Silent_p.L481L|SEC24C_uc010qko.1_Silent_p.L362L|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.L481L	NM_004922	NP_004913	P53992	SC24C_HUMAN			11	1620	+	Prostate(51;0.0112)		481					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.1441C>T	CCDS7332.1																																																																																				0.517	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			28	141	0	0	0	0.007291	0	28	141				
GHITM	27069	broad.mit.edu	37	10	85909813	85909813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:85909813G>T	ENST00000372134.3	+	7	788	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	199					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTCTCCAGGTGTGATGGGTGC	0.433																																							uc001kcs.1		NA																	0					0						c.(595-597)GTG>TTG		growth hormone inducible transmembrane protein							98.0	104.0	102.0					10																	85909813		2133	4245	6378	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85909813G>T	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.595G>T	10.37:g.85909813G>T	ENSP00000361207:p.Val199Leu					GHITM_uc010qma.1_Missense_Mutation_p.V130L|GHITM_uc010qmb.1_Missense_Mutation_p.V129L	p.V199L	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN			7	799	+			199			Helical; (Potential).		A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.595G>T	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833897	0.71373	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	T	0.35236	1.32	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.39898	1.24	0.80722	D	1	B;B	0.26147	0.048;0.143	B;B	0.28011	0.066;0.085	T	0.07751	-1.0756	10	0.07990	T	0.79	-18.2341	17.189	0.86874	0.0:0.0:1.0:0.0	.	130;199	B4DNL0;Q9H3K2	.;GHITM_HUMAN	L	199;186;199;179	ENSP00000361207:V199L	ENSP00000342214:V179L	V	+	1	0	GHITM	85899793	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.240000	0.72363	2.793000	0.96121	0.563000	0.77884	GTG		0.433	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		17	62	1	0	3.5997e-14	0.002299	4.96554e-14	17	62				
MYOF	26509	broad.mit.edu	37	10	95111578	95111578	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:95111578G>C	ENST00000359263.4	-	33	3506	c.3507C>G	c.(3505-3507)ctC>ctG	p.L1169L	MYOF_ENST00000371502.4_Silent_p.L1169L|MYOF_ENST00000358334.5_Silent_p.L1156L|MYOF_ENST00000371501.4_Silent_p.L1169L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1169	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCTCCGATGGAGGAAACAGA	0.433																																							uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(3505-3507)CTC>CTG		myoferlin isoform a							102.0	94.0	97.0					10																	95111578		1856	4103	5959	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111578G>C	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3507C>G	10.37:g.95111578G>C						MYOF_uc001kio.2_Silent_p.L1156L|MYOF_uc009xue.2_RNA	p.L1169L	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			33	3630	-			1169			Cytoplasmic (Potential).|C2 4.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.3507C>G	CCDS41551.1																																																																																				0.433	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		5	38	0	0	0	0.001168	0	5	38				
DCLRE1A	9937	broad.mit.edu	37	10	115609007	115609007	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr10:115609007C>G	ENST00000361384.2	-	2	2774	c.1857G>C	c.(1855-1857)gaG>gaC	p.E619D	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E619D	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	619					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AAAGCTGACTCTCATGTAAAG	0.403								Other identified genes with known or suspected DNA repair function																															uc001law.2		NA																	0				skin(2)	2						c.(1855-1857)GAG>GAC	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							131.0	130.0	130.0					10																	115609007		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609007C>G		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1857G>C	10.37:g.115609007C>G	ENSP00000355185:p.Glu619Asp						p.E619D	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2775	-			619					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.1857G>C	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	9.423	1.083589	0.20309	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.66995	-0.24;-0.24	5.12	-1.21	0.09524	.	0.598725	0.19270	N	0.118422	T	0.50854	0.1640	L	0.55103	1.725	0.09310	N	1	B	0.20887	0.049	B	0.17433	0.018	T	0.36648	-0.9739	10	0.40728	T	0.16	-7.6724	1.926	0.03317	0.1289:0.3871:0.1267:0.3573	.	619	Q6PJP8	DCR1A_HUMAN	D	619	ENSP00000355185:E619D;ENSP00000358311:E619D	ENSP00000355185:E619D	E	-	3	2	DCLRE1A	115598997	0.004000	0.15560	0.073000	0.20177	0.429000	0.31625	0.074000	0.14662	-0.087000	0.12528	-0.175000	0.13238	GAG		0.403	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		9	86	0	0	0	0.008291	0	9	86				
NUP98	4928	broad.mit.edu	37	11	3733881	3733881	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:3733881C>G	ENST00000324932.7	-	20	3075	c.2655G>C	c.(2653-2655)aaG>aaC	p.K885N	NUP98_ENST00000397007.4_Missense_Mutation_p.K902N|NUP98_ENST00000397004.4_Missense_Mutation_p.K885N|NUP98_ENST00000355260.3_Missense_Mutation_p.K885N|RNU6-1143P_ENST00000516125.1_RNA|NUP98_ENST00000359171.4_Missense_Mutation_p.K885N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	902					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCTTCAACTTCTTTGTACTAG	0.478			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																		uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(2653-2655)AAG>AAC		nucleoporin 98kD isoform 1							170.0	157.0	161.0					11																	3733881		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3733881C>G	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2655G>C	11.37:g.3733881C>G	ENSP00000316032:p.Lys885Asn					NUP98_uc001lyi.2_Missense_Mutation_p.K885N|NUP98_uc001lyj.1_Missense_Mutation_p.K885N|NUP98_uc001lyk.1_Missense_Mutation_p.K902N	p.K885N	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	20	2946	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	902					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2655G>C	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920550	0.73213	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.48	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.68952	2.095	0.53005	D	0.99996	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;D;D;D	0.85130	0.997;0.945;0.994;0.981	T	0.65520	-0.6148	9	0.22109	T	0.4	-15.4094	11.1906	0.48683	0.0:0.8516:0.0:0.1484	.	902;885;885;885	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	N	885;885;885;885;902	.	ENSP00000316032:K885N	K	-	3	2	NUP98	3690457	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.645000	0.54389	0.701000	0.31803	0.563000	0.77884	AAG		0.478	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		9	109	0	0	0	0.008291	0	9	109				
OR52E8	390079	broad.mit.edu	37	11	5878756	5878756	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:5878756C>A	ENST00000537935.1	-	1	208	c.177G>T	c.(175-177)caG>caT	p.Q59H	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGAGACTCTGCTCAGTCT	0.468																																							uc010qzr.1		NA																	0				skin(2)	2						c.(175-177)CAG>CAT		olfactory receptor, family 52, subfamily E,							118.0	137.0	131.0					11																	5878756		2145	4296	6441	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878756C>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.177G>T	11.37:g.5878756C>A	ENSP00000444054:p.Gln59His					TRIM5_uc001mbq.1_Intron	p.Q59H	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	177	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	59			Cytoplasmic (Potential).		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.177G>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.129097	0.00342	.	.	ENSG00000183269	ENST00000537935	T	0.00438	7.42	4.35	-4.03	0.04021	GPCR, rhodopsin-like superfamily (1);	0.777811	0.11487	N	0.559136	T	0.00144	0.0004	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32188	-0.9916	10	0.11794	T	0.64	.	0.7054	0.00915	0.318:0.3101:0.1587:0.2133	.	59	Q6IFG1	O52E8_HUMAN	H	59	ENSP00000444054:Q59H	ENSP00000444054:Q59H	Q	-	3	2	OR52E8	5835332	0.000000	0.05858	0.013000	0.15412	0.052000	0.14988	-7.223000	0.00041	-0.480000	0.06803	-1.221000	0.01599	CAG		0.468	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		21	117	1	0	1.64113e-05	0.010504	1.97647e-05	21	117				
BTBD10	84280	broad.mit.edu	37	11	13435091	13435091	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:13435091T>G	ENST00000278174.5	-	6	1039	c.794A>C	c.(793-795)aAa>aCa	p.K265T	BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T|BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	265	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATCTCTACATTTAATAGTGCT	0.323																																							uc001mkz.2		NA																	0					0						c.(793-795)AAA>ACA		K+ channel tetramerization protein							91.0	87.0	89.0					11																	13435091		2199	4293	6492	SO:0001583	missense	84280					nucleus		g.chr11:13435091T>G	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.794A>C	11.37:g.13435091T>G	ENSP00000278174:p.Lys265Thr					BTBD10_uc010rcl.1_Missense_Mutation_p.K273T|BTBD10_uc001mla.2_Missense_Mutation_p.K249T|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.K217T|BTBD10_uc010rcn.1_Missense_Mutation_p.K234T|BTBD10_uc009ygo.2_Missense_Mutation_p.K217T	p.K265T	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	6	1051	-			265					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.794A>C	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956547	0.73902	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.82167	-1.58;-1.58;-1.58	5.35	4.22	0.49857	BTB/POZ-like (1);BTB/POZ fold (2);	0.044120	0.85682	D	0.000000	D	0.88097	0.6345	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.999;0.999	D;D;D;D	0.80764	0.994;0.936;0.973;0.973	D	0.87938	0.2715	10	0.72032	D	0.01	-48.8777	10.9311	0.47217	0.0:0.0747:0.0:0.9253	.	234;273;265;265	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	T	265;273;217	ENSP00000278174:K265T;ENSP00000431186:K273T;ENSP00000435257:K217T	ENSP00000278174:K265T	K	-	2	0	BTBD10	13391667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.226000	0.72277	0.967000	0.38186	0.455000	0.32223	AAA		0.323	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		3	44	0	0	0	0.009096	0	3	44				
PDE3B	5140	broad.mit.edu	37	11	14865513	14865513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:14865513C>A	ENST00000282096.4	+	12	2814	c.2461C>A	c.(2461-2463)Cat>Aat	p.H821N	PDE3B_ENST00000455098.2_Missense_Mutation_p.H770N	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	821	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AGCTGCCATGCATGATTATGA	0.418																																							uc001mln.2		NA																	0					0						c.(2461-2463)CAT>AAT		phosphodiesterase 3B							147.0	141.0	143.0					11																	14865513		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14865513C>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2461C>A	11.37:g.14865513C>A	ENSP00000282096:p.His821Asn					PDE3B_uc010rcr.1_Missense_Mutation_p.H770N	p.H821N	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			12	2814	+			821			Catalytic (By similarity).	Divalent metal cation 1.	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.2461C>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919836	0.92249	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.90732	-2.72;-2.72	5.83	5.83	0.93111	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	H	0.98754	4.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98696	1.0698	10	0.87932	D	0	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	770;821	B7ZM37;Q13370	.;PDE3B_HUMAN	N	821;770	ENSP00000282096:H821N;ENSP00000388644:H770N	ENSP00000282096:H821N	H	+	1	0	PDE3B	14822089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.763000	0.94921	0.563000	0.77884	CAT		0.418	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		23	62	1	0	1.42536e-11	0.004656	1.93193e-11	23	62				
KCNA4	3739	broad.mit.edu	37	11	30033664	30033664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:30033664C>A	ENST00000328224.6	-	2	1795	c.562G>T	c.(562-564)Gag>Tag	p.E188*	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.E188K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ATTTGGGTCTCAAAGCGTAGG	0.498																																							uc001msk.2		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(562-564)GAG>TAG		potassium voltage-gated channel, shaker-related							65.0	65.0	65.0					11																	30033664		2029	4166	6195	SO:0001587	stop_gained	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033664C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.562G>T	11.37:g.30033664C>A	ENSP00000328511:p.Glu188*						p.E188*	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1714	-			188						Nonsense_Mutation	SNP	ENST00000328224.6	37	c.562G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	47	13.547544	0.99749	.	.	ENSG00000182255	ENST00000328224	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8942	0.88881	0.0:1.0:0.0:0.0	.	.	.	.	X	188	.	ENSP00000328511:E188X	E	-	1	0	KCNA4	29990240	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.787000	0.85759	2.227000	0.72691	0.561000	0.74099	GAG		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		15	39	1	0	1.3612e-06	0.003163	1.69714e-06	15	39				
KCNA4	3739	broad.mit.edu	37	11	30033840	30033840	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:30033840T>G	ENST00000328224.6	-	2	1619	c.386A>C	c.(385-387)gAg>gCg	p.E129A	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	129	Poly-Glu.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ttcctcctcctcctcatcttc	0.547																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(385-387)GAG>GCG		potassium voltage-gated channel, shaker-related							33.0	34.0	33.0					11																	30033840		2190	4293	6483	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033840T>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.386A>C	11.37:g.30033840T>G	ENSP00000328511:p.Glu129Ala						p.E129A	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1538	-			129			Poly-Glu.			Missense_Mutation	SNP	ENST00000328224.6	37	c.386A>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	T	7.126	0.578934	0.13686	.	.	ENSG00000182255	ENST00000328224	D	0.97016	-4.21	4.73	4.73	0.59995	.	1.771310	0.02791	N	0.122015	D	0.92489	0.7615	N	0.24115	0.695	0.39158	D	0.962347	B	0.02656	0.0	B	0.04013	0.001	T	0.75007	-0.3469	10	0.12766	T	0.61	.	9.3664	0.38228	0.1595:0.0:0.0:0.8405	.	129	P22459	KCNA4_HUMAN	A	129	ENSP00000328511:E129A	ENSP00000328511:E129A	E	-	2	0	KCNA4	29990416	0.981000	0.34729	0.044000	0.18714	0.601000	0.36947	1.594000	0.36697	1.771000	0.52183	0.459000	0.35465	GAG		0.547	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		6	41	0	0	0	0.001168	0	6	41				
LRRC4C	57689	broad.mit.edu	37	11	40137205	40137206	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:40137205_40137206GG>TT	ENST00000278198.2	-	2	2600_2601	c.637_638CC>AA	c.(637-639)CCt>AAt	p.P213N	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	213					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P213T(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGAGGTTAGGGATTTCCCGA	0.455																																							uc001mxa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(637-639)CCT>AAT		netrin-G1 ligand precursor																																				SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137205_40137206GG>TT	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.637_638delinsTT	11.37:g.40137205_40137206delinsTT	ENSP00000278198:p.Pro213Asn					LRRC4C_uc001mxc.1_Missense_Mutation_p.P209N|LRRC4C_uc001mxd.1_Missense_Mutation_p.P209N|LRRC4C_uc001mxb.1_Missense_Mutation_p.P209N	p.P213N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2601_2602	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	213			LRR 6.		A8K0T1|Q7L0N3	Missense_Mutation	DNP	ENST00000278198.2	37	c.637_638CC>AA	CCDS31464.1																																																																																				0.455	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		7	38	0	0	0	0.004672	0	7	38				
OR4A5	81318	broad.mit.edu	37	11	51411644	51411644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:51411644C>A	ENST00000319760.6	-	1	804	c.752G>T	c.(751-753)tGt>tTt	p.C251F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATGAAAATACAGGGTACAAA	0.388																																							uc001nhi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(751-753)TGT>TTT		olfactory receptor, family 4, subfamily A,							53.0	52.0	53.0					11																	51411644		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411644C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.752G>T	11.37:g.51411644C>A	ENSP00000367664:p.Cys251Phe						p.C251F	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	752	-		all_lung(304;0.236)	251			Helical; Name=6; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.752G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	4.164	0.029009	0.08054	.	.	ENSG00000221840	ENST00000319760	T	0.00107	8.72	2.2	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000085	T	0.00412	0.0013	M	0.85542	2.76	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.34675	-0.9819	10	0.87932	D	0	.	8.4709	0.32984	0.0:0.7562:0.2438:0.0	.	251	Q8NH83	OR4A5_HUMAN	F	251	ENSP00000367664:C251F	ENSP00000367664:C251F	C	-	2	0	OR4A5	51268220	0.000000	0.05858	0.183000	0.23137	0.038000	0.13279	-1.495000	0.02294	0.430000	0.26230	0.162000	0.16502	TGT		0.388	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		6	30	1	0	0.00116845	0.001168	0.00129864	6	30				
OR5L1	219437	broad.mit.edu	37	11	55579362	55579362	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:55579362G>T	ENST00000333973.2	+	1	509	c.420G>T	c.(418-420)gtG>gtT	p.V140V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTGGAAGGTGCGTGTGGAGC	0.502																																							uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(418-420)GTG>GTT		olfactory receptor, family 5, subfamily L,							216.0	174.0	188.0					11																	55579362		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579362G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.420G>T	11.37:g.55579362G>T							p.V140V	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	420	+		all_epithelial(135;0.208)	140			Helical; Name=4; (Potential).		B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.420G>T	CCDS31509.1																																																																																				0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		14	106	1	0	0.000151284	0.001855	0.000174111	14	106				
OR5J2	282775	broad.mit.edu	37	11	55944298	55944298	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:55944298G>T	ENST00000312298.1	+	1	205	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TCTTTCATTTGTGGATGCCTG	0.443																																							uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(205-207)GTG>TTG		olfactory receptor, family 5, subfamily J,							199.0	171.0	180.0					11																	55944298		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944298G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.205G>T	11.37:g.55944298G>T	ENSP00000310788:p.Val69Leu						p.V69L	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	205	+	Esophageal squamous(21;0.00693)		69			Helical; Name=2; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.205G>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	4.317	0.058064	0.08339	.	.	ENSG00000174957	ENST00000312298	T	0.00832	5.64	4.57	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.130542	0.34133	N	0.004240	T	0.01421	0.0046	N	0.11255	0.115	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.55792	-0.8085	10	0.37606	T	0.19	.	7.8957	0.29704	0.1612:0.3034:0.5354:0.0	.	69	Q8NH18	OR5J2_HUMAN	L	69	ENSP00000310788:V69L	ENSP00000310788:V69L	V	+	1	0	OR5J2	55700874	0.000000	0.05858	0.086000	0.20670	0.324000	0.28378	-1.139000	0.03213	0.466000	0.27193	0.584000	0.79450	GTG		0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		10	147	1	0	0.000442599	0.006214	0.000499047	10	147				
OR5M3	219482	broad.mit.edu	37	11	56237626	56237626	+	Missense_Mutation	SNP	C	C	A	rs182214555	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:56237626C>A	ENST00000312240.2	-	1	388	c.348G>T	c.(346-348)atG>atT	p.M116I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TATCAAAGGCCATCGCAGCAA	0.358													c|||	3	0.000599042	0.0008	0.0014	5008	,	,		21301	0.001		0.0	False		,,,				2504	0.0						uc010rjk.1		NA																	0				ovary(2)	2						c.(346-348)ATG>ATT		olfactory receptor, family 5, subfamily M,		C	ILE/MET	1,4401	2.1+/-5.4	0,1,2200	91.0	85.0	87.0		348	5.1	1.0	11		87	0,8590		0,0,4295	no	missense	OR5M3	NM_001004742.2	10	0,1,6495	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	116/308	56237626	1,12991	2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237626C>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.348G>T	11.37:g.56237626C>A	ENSP00000312208:p.Met116Ile						p.M116I	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	348	-	Esophageal squamous(21;0.00448)		116			Helical; Name=3; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.348G>T	CCDS31532.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	23.3	4.397432	0.83120	2.27E-4	0.0	ENSG00000174937	ENST00000312240	T	0.01126	5.3	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.105570	0.42548	N	0.000689	T	0.07188	0.0182	H	0.96970	3.915	0.45097	D	0.998111	P	0.49090	0.919	P	0.46208	0.507	T	0.04178	-1.0971	10	0.87932	D	0	-17.6832	17.142	0.86756	0.0:1.0:0.0:0.0	.	116	Q8NGP4	OR5M3_HUMAN	I	116	ENSP00000312208:M116I	ENSP00000312208:M116I	M	-	3	0	OR5M3	55994202	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.546000	0.82137	2.381000	0.81170	0.478000	0.44815	ATG		0.358	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		5	71	1	0	0.000602214	0.000602	0.000673165	5	71				
OR5B21	219968	broad.mit.edu	37	11	58275352	58275352	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:58275352G>A	ENST00000360374.2	-	1	226	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CGTTTTGGGGGCTACAGCTGA	0.507																																							uc010rki.1		NA																	0				ovary(3)	3						c.(226-228)GCC>GTC		olfactory receptor, family 5, subfamily B,							94.0	83.0	87.0					11																	58275352		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275352G>A		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.227C>T	11.37:g.58275352G>A	ENSP00000353537:p.Ala76Val						p.A76V	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	227	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	76			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.227C>T	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301781	0.23736	.	.	ENSG00000198283	ENST00000360374	T	0.02103	4.45	5.05	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.210748	0.23424	N	0.048335	T	0.01287	0.0042	N	0.04043	-0.29	0.26544	N	0.974025	B	0.06786	0.001	B	0.08055	0.003	T	0.44620	-0.9316	10	0.56958	D	0.05	-1.0193	6.4913	0.22117	0.3534:0.0:0.6466:0.0	.	76	A6NL26	OR5BL_HUMAN	V	76	ENSP00000353537:A76V	ENSP00000353537:A76V	A	-	2	0	OR5B21	58031928	0.006000	0.16342	0.245000	0.24217	0.140000	0.21249	1.951000	0.40333	0.724000	0.32296	0.555000	0.69702	GCC		0.507	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		6	54	0	0	0	0.00308	0	6	54				
TM7SF2	7108	broad.mit.edu	37	11	64883032	64883032	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:64883032G>C	ENST00000279263.7	+	9	1220	c.1058G>C	c.(1057-1059)gGa>gCa	p.G353A	AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G326A|TM7SF2_ENST00000540748.1_Missense_Mutation_p.G237A	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	353					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AACTATCTTGGAGACCTCATC	0.592																																							uc001oct.2		NA																	0				ovary(1)	1						c.(1057-1059)GGA>GCA		transmembrane 7 superfamily member 2							87.0	89.0	88.0					11																	64883032		2116	4220	6336	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64883032G>C	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.1058G>C	11.37:g.64883032G>C	ENSP00000279263:p.Gly353Ala					TM7SF2_uc010rny.1_Missense_Mutation_p.G237A|TM7SF2_uc001ocu.2_Missense_Mutation_p.G326A|TM7SF2_uc001ocv.2_Missense_Mutation_p.G374A|uc009yqb.1_5'Flank	p.G353A	NM_003273	NP_003264	O76062	ERG24_HUMAN			9	1205	+			353					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.1058G>C	CCDS41669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.772451|4.772451	0.90108|0.90108	.|.	.|.	ENSG00000149809|ENSG00000149809	ENST00000528802|ENST00000279263;ENST00000540748;ENST00000345348;ENST00000531321	.|D;D;D;D	.|0.98044	.|-4.68;-4.68;-4.68;-4.68	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98510|0.98510	0.9503|0.9503	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.97110	.|1.0;0.989;1.0	D|D	0.98718|0.98718	1.0707|1.0707	5|9	.|.	.|.	.|.	-16.6966|-16.6966	15.8004|15.8004	0.78450|0.78450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|237;326;353	.|F5GYV3;O76062-2;O76062	.|.;.;ERG24_HUMAN	Q|A	181|353;237;326;259	.|ENSP00000279263:G353A;ENSP00000441215:G237A;ENSP00000329520:G326A;ENSP00000431300:G259A	.|.	E|G	+|+	1|2	0|0	TM7SF2|TM7SF2	64639608|64639608	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	9.580000|9.580000	0.98207|0.98207	2.584000|2.584000	0.87258|0.87258	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.592	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		3	50	0	0	0	0.004672	0	3	50				
PACS1	55690	broad.mit.edu	37	11	65983614	65983614	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:65983614G>T	ENST00000320580.4	+	5	718	c.685G>T	c.(685-687)Gca>Tca	p.A229S		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	229					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TAATGAAGGCGCACTGGTGCT	0.537																																							uc001oha.1		NA																	0				ovary(6)	6						c.(685-687)GCA>TCA		phosphofurin acidic cluster sorting protein 1							117.0	98.0	104.0					11																	65983614		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65983614G>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.685G>T	11.37:g.65983614G>T	ENSP00000316454:p.Ala229Ser					PACS1_uc001ogz.1_Missense_Mutation_p.A229S	p.A229S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			5	819	+			229					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.685G>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234516	0.22626	.	.	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.22336	1.96	5.23	5.23	0.72850	.	0.213634	0.47093	D	0.000241	T	0.26557	0.0649	N	0.16478	0.41	0.80722	D	1	D;D	0.69078	0.976;0.997	P;D	0.65010	0.742;0.931	T	0.02519	-1.1147	10	0.09084	T	0.74	-23.148	17.7367	0.88395	0.0:0.0:1.0:0.0	.	229;229	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	S	229;131	ENSP00000316454:A229S	ENSP00000316454:A229S	A	+	1	0	PACS1	65740190	1.000000	0.71417	0.907000	0.35723	0.318000	0.28184	9.317000	0.96327	2.724000	0.93272	0.561000	0.74099	GCA		0.537	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		13	58	1	0	2.61681e-11	0.00245	3.52229e-11	13	58				
BBS1	582	broad.mit.edu	37	11	66282012	66282012	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:66282012C>T	ENST00000318312.7	+	4	346	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	BBS1_ENST00000537537.1_Silent_p.S2S|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.P136S|BBS1_ENST00000393994.2_Missense_Mutation_p.P99S|BBS1_ENST00000455748.2_Missense_Mutation_p.P99S|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	99					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GCAACATGAGCCCCGGACCCC	0.572									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	GBM(152;173 2612 9770 10137)	uc001oij.1		NA																	0				ovary(1)	1						c.(295-297)CCC>TCC		Bardet-Biedl syndrome 1							130.0	132.0	132.0					11																	66282012		2200	4295	6495	SO:0001583	missense	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66282012C>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.295C>T	11.37:g.66282012C>T	ENSP00000317469:p.Pro99Ser					BBS1_uc001oii.1_Missense_Mutation_p.P136S|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.P99S|BBS1_uc001oik.1_Missense_Mutation_p.P23S|BBS1_uc001oil.1_Missense_Mutation_p.P99S	p.P99S	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			4	307	+			99					Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.295C>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383036	0.61845	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994;ENST00000524705	D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02	5.09	3.05	0.35203	.	.	.	.	.	D	0.95598	0.8569	M	0.86953	2.85	0.80722	D	1	P;P;D;D	0.89917	0.767;0.86;1.0;1.0	B;P;D;D	0.72982	0.359;0.453;0.97;0.979	D	0.95192	0.8309	9	0.72032	D	0.01	.	9.6654	0.39981	0.1587:0.6877:0.1536:0.0	.	99;99;99;136	E7EQH1;Q32MM9;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	S	136;99;99;99;6	ENSP00000398526:P136S;ENSP00000317469:P99S;ENSP00000405764:P99S;ENSP00000377563:P99S;ENSP00000436927:P6S	ENSP00000317469:P99S	P	+	1	0	BBS1;CTD-3074O7.11	66038588	1.000000	0.71417	0.801000	0.32222	0.375000	0.29983	3.417000	0.52714	1.259000	0.44117	0.558000	0.71614	CCC		0.572	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			13	184	0	0	0	0.001855	0	13	184				
CLPB	81570	broad.mit.edu	37	11	72145270	72145270	+	Silent	SNP	G	G	C	rs200845330		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:72145270G>C	ENST00000294053.3	-	1	422	c.249C>G	c.(247-249)ctC>ctG	p.L83L	CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000437826.2_Missense_Mutation_p.R3G|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Silent_p.L83L|CLPB_ENST00000542555.1_5'Flank	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	83					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCAGCCGCGAGGCATTTGG	0.692											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001osj.2		NA																	0				pancreas(1)	1						c.(247-249)CTC>CTG		caseinolytic peptidase B																																				SO:0001819	synonymous_variant	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72145270G>C	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.249C>G	11.37:g.72145270G>C			OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	CLPB_uc010rqx.1_Missense_Mutation_p.R3G|CLPB_uc010rqy.1_Silent_p.L83L|CLPB_uc001osk.2_Silent_p.L83L|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR	p.L83L	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			1	299	-			83					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	c.249C>G	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	7.546	0.661683	0.14645	.	.	ENSG00000162129	ENST00000535990;ENST00000437826	T;T	0.28895	1.59;2.33	5.04	1.29	0.21616	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24977	-1.0145	8	0.87932	D	0	-0.2003	4.9463	0.13991	0.2593:0.208:0.5327:0.0	.	3	E7EWN6	.	G	53;3	ENSP00000443822:R53G;ENSP00000407296:R3G	ENSP00000407296:R3G	R	-	1	0	CLPB	71822918	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	-0.046000	0.11983	0.151000	0.19162	0.655000	0.94253	CGC		0.692	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		9	69	0	0	0	0.006214	0	9	69				
RNF169	254225	broad.mit.edu	37	11	74547638	74547638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:74547638C>T	ENST00000299563.4	+	6	2003	c.1990C>T	c.(1990-1992)Cag>Tag	p.Q664*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	664					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GCAGAAGCTTCAGCAAGAGGA	0.537																																							uc001ovl.3		NA																	0				ovary(1)	1						c.(1990-1992)CAG>TAG		ring finger protein 169							75.0	78.0	77.0					11																	74547638		1945	4127	6072	SO:0001587	stop_gained	254225						zinc ion binding	g.chr11:74547638C>T	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1990C>T	11.37:g.74547638C>T	ENSP00000299563:p.Gln664*					XRRA1_uc001ovm.2_Intron	p.Q664*	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN			6	2003	+			664					Q6N015	Nonsense_Mutation	SNP	ENST00000299563.4	37	c.1990C>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064060	0.76187	.	.	ENSG00000166439	ENST00000299563	.	.	.	5.53	5.53	0.82687	.	0.402752	0.25587	N	0.029654	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.3615	12.2762	0.54737	0.1695:0.8304:0.0:0.0	.	.	.	.	X	664	.	ENSP00000299563:Q664X	Q	+	1	0	RNF169	74225286	0.995000	0.38212	0.975000	0.42487	0.960000	0.62799	3.393000	0.52544	2.762000	0.94881	0.655000	0.94253	CAG		0.537	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		6	75	0	0	0	0.001168	0	6	75				
FAT3	120114	broad.mit.edu	37	11	92086102	92086102	+	Nonsense_Mutation	SNP	C	C	A	rs574059534		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:92086102C>A	ENST00000298047.6	+	1	841	c.824C>A	c.(823-825)tCg>tAg	p.S275*	FAT3_ENST00000541502.1_Nonsense_Mutation_p.S275*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.S125*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S275*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTCCTTTCTCGTTGGAAAAA	0.448										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(823-825)TCG>TAG		FAT tumor suppressor homolog 3							151.0	145.0	147.0					11																	92086102		2025	4194	6219	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086102C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.824C>A	11.37:g.92086102C>A	ENSP00000298047:p.Ser275*	TCGA Ovarian(4;0.039)					p.S275*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	841	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	275			Cadherin 3.|Extracellular (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.824C>A		.	.	.	.	.	.	.	.	.	.	C	33	5.241593	0.95272	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.8989	0.58115	0.1624:0.8376:0.0:0.0	.	.	.	.	X	275;275;275;125	.	ENSP00000298047:S275X	S	+	2	0	FAT3	91725750	0.000000	0.05858	0.007000	0.13788	0.810000	0.45777	1.106000	0.31098	2.509000	0.84616	0.557000	0.71058	TCG		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		13	102	1	0	0.00010058	0.001368	0.0001161	13	102				
C11orf54	28970	broad.mit.edu	37	11	93488502	93488502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:93488502C>T	ENST00000331239.4	+	6	636	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	C11orf54_ENST00000354421.3_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000540113.1_Nonsense_Mutation_p.Q134*|C11orf54_ENST00000528099.1_Nonsense_Mutation_p.Q153*|C11orf54_ENST00000528288.1_Nonsense_Mutation_p.Q153*			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	153					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCATGATTTTCAGTGTGCATT	0.423																																							uc009ywi.2		NA																	0					0						c.(457-459)CAG>TAG		hypothetical protein LOC28970							93.0	89.0	90.0					11																	93488502		2201	4298	6499	SO:0001587	stop_gained	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93488502C>T	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.457C>T	11.37:g.93488502C>T	ENSP00000331209:p.Gln153*					C11orf54_uc001pee.1_Intron|C11orf54_uc001pef.2_Nonsense_Mutation_p.Q153*|C11orf54_uc001peg.2_Nonsense_Mutation_p.Q153*|C11orf54_uc001peh.2_Nonsense_Mutation_p.Q153*|C11orf54_uc001pei.2_Nonsense_Mutation_p.Q134*|C11orf54_uc001pej.2_Nonsense_Mutation_p.Q134*|C11orf54_uc001pek.2_Nonsense_Mutation_p.Q42*	p.Q153*	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			7	788	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	153					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Nonsense_Mutation	SNP	ENST00000331239.4	37	c.457C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.758789	0.96898	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000524485;ENST00000527363;ENST00000533154	.	.	.	5.94	5.03	0.67393	.	0.407067	0.31872	N	0.006924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-6.8879	17.4406	0.87563	0.0:0.1246:0.8753:0.0	.	.	.	.	X	153;153;153;153;134;134;134;153;42	.	ENSP00000331209:Q153X	Q	+	1	0	C11orf54	93128150	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.283000	0.58977	1.522000	0.49001	-0.197000	0.12766	CAG		0.423	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		4	42	0	0	0	0.009096	0	4	42				
TRPC6	7225	broad.mit.edu	37	11	101344457	101344457	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:101344457G>C	ENST00000344327.3	-	7	2216	c.1792C>G	c.(1792-1794)Ctt>Gtt	p.L598V	TRPC6_ENST00000532133.1_Missense_Mutation_p.L520V|TRPC6_ENST00000360497.4_Missense_Mutation_p.L543V|TRPC6_ENST00000348423.4_Missense_Mutation_p.L482V	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	598					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L598I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATTGCATAAAGACCTTCAGAT	0.363																																					Colon(166;1315 1927 11094 12848 34731)	Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1792-1794)CTT>GTT		transient receptor potential cation channel,							78.0	80.0	79.0					11																	101344457		2203	4298	6501	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101344457G>C	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1792C>G	11.37:g.101344457G>C	ENSP00000340913:p.Leu598Val					TRPC6_uc009ywy.2_Missense_Mutation_p.L482V|TRPC6_uc009ywz.1_Missense_Mutation_p.L543V	p.L598V	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	7	2217	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	598			Helical; (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1792C>G	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172422	0.78452	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.998;0.998;0.999	D	0.99537	1.0962	10	0.48119	T	0.1	-7.3315	20.2985	0.98592	0.0:0.0:1.0:0.0	.	543;482;598	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	V	598;520;482;543	ENSP00000340913:L598V;ENSP00000435574:L520V;ENSP00000343672:L482V;ENSP00000353687:L543V	ENSP00000340913:L598V	L	-	1	0	TRPC6	100849667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.005000	0.88553	2.793000	0.96121	0.655000	0.94253	CTT		0.363	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		3	59	0	0	0	0.004672	0	3	59				
HYOU1	10525	broad.mit.edu	37	11	118925964	118925964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:118925964C>A	ENST00000404233.3	-	5	476	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S	HYOU1_ENST00000529972.1_Missense_Mutation_p.A118S|HYOU1_ENST00000525859.1_Missense_Mutation_p.A118S|HYOU1_ENST00000543287.1_Missense_Mutation_p.A31S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	118					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGGAAGCGGGCCTGGTAAAGA	0.567																																							uc001puu.2		NA																	0					0						c.(352-354)GCC>TCC		hypoxia up-regulated 1 precursor							135.0	135.0	135.0					11																	118925964		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118925964C>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.352G>T	11.37:g.118925964C>A	ENSP00000384144:p.Ala118Ser					HYOU1_uc001put.2_Missense_Mutation_p.A83S|HYOU1_uc010ryu.1_Missense_Mutation_p.A138S|HYOU1_uc010ryv.1_Intron|HYOU1_uc001pux.3_Missense_Mutation_p.A118S|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.A118S	p.A118S	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	5	545	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	118					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.352G>T	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	5.988	0.366286	0.11352	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000541069;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00940	5.52;5.52;5.52;5.52;5.52	5.55	-0.918	0.10482	.	0.500423	0.23500	N	0.047516	T	0.00524	0.0017	N	0.05414	-0.055	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.47262	-0.9131	10	0.29301	T	0.29	-1.1468	4.9706	0.14113	0.2695:0.3894:0.0:0.3411	.	162;118;118	B7Z2N4;Q9Y4L1;A8C1Z0	.;HYOU1_HUMAN;.	S	118;109;118;118;118;118;161;31;118	ENSP00000384144:A118S;ENSP00000437313:A118S;ENSP00000433397:A118S;ENSP00000442727:A31S;ENSP00000431874:A118S	ENSP00000278752:A109S	A	-	1	0	HYOU1	118431174	0.075000	0.21258	0.003000	0.11579	0.081000	0.17604	0.440000	0.21592	0.013000	0.14918	0.561000	0.74099	GCC		0.567	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		16	102	1	0	8.60227e-14	0.004007	1.18243e-13	16	102				
ABCG4	64137	broad.mit.edu	37	11	119027683	119027683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:119027683G>A	ENST00000449422.2	+	9	1215	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ABCG4_ENST00000307417.3_Missense_Mutation_p.E343K|ABCG4_ENST00000531739.1_Missense_Mutation_p.E343K|AP002956.1_ENST00000599663.1_Intron	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	343					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGCAGCCCTGAGAAGAACGA	0.607																																							uc001pvs.2		NA																	0				ovary(2)	2						c.(1027-1029)GAG>AAG		ATP-binding cassette, subfamily G, member 4							173.0	158.0	163.0					11																	119027683		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027683G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1027G>A	11.37:g.119027683G>A	ENSP00000406874:p.Glu343Lys					ABCG4_uc009zar.2_Missense_Mutation_p.E343K	p.E343K	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	1363	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	343			Cytoplasmic (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1027G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958773	0.74016	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739;ENST00000534402	D;D;D;T	0.87650	-2.28;-2.28;-2.28;0.86	5.65	5.65	0.86999	.	0.358097	0.33057	N	0.005332	T	0.71151	0.3306	N	0.03608	-0.345	0.34816	D	0.73822	B	0.18610	0.029	B	0.16722	0.016	T	0.71454	-0.4588	10	0.16896	T	0.51	-19.552	12.6473	0.56742	0.0763:0.0:0.9237:0.0	.	343	Q9H172	ABCG4_HUMAN	K	343;343;343;21	ENSP00000304111:E343K;ENSP00000406874:E343K;ENSP00000434318:E343K;ENSP00000434571:E21K	ENSP00000304111:E343K	E	+	1	0	ABCG4	118532893	0.998000	0.40836	0.989000	0.46669	0.963000	0.63663	3.711000	0.54868	2.648000	0.89879	0.655000	0.94253	GAG		0.607	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		8	104	0	0	0	0.006214	0	8	104				
TECTA	7007	broad.mit.edu	37	11	121032845	121032845	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:121032845G>T	ENST00000392793.1	+	16	5309	c.5038G>T	c.(5038-5040)Gtg>Ttg	p.V1680L	TECTA_ENST00000264037.2_Missense_Mutation_p.V1680L			O75443	TECTA_HUMAN	tectorin alpha	1680	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGTGACAATGTGCACATCCA	0.537																																							uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(5038-5040)GTG>TTG		tectorin alpha precursor							120.0	105.0	110.0					11																	121032845		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121032845G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5038G>T	11.37:g.121032845G>T	ENSP00000376543:p.Val1680Leu						p.V1680L	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	15	5038	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1680			VWFD 4.			Missense_Mutation	SNP	ENST00000392793.1	37	c.5038G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125825	0.37533	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.35236	1.32;1.32	5.54	4.62	0.57501	von Willebrand factor, type D domain (1);	0.289408	0.34088	N	0.004265	T	0.25419	0.0618	N	0.22421	0.69	0.36118	D	0.845313	B	0.15719	0.014	B	0.14023	0.01	T	0.14952	-1.0454	10	0.21540	T	0.41	.	14.2328	0.65906	0.0718:0.0:0.9282:0.0	.	1680	O75443	TECTA_HUMAN	L	1680	ENSP00000376543:V1680L;ENSP00000264037:V1680L	ENSP00000264037:V1680L	V	+	1	0	TECTA	120538055	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.980000	0.56895	1.323000	0.45263	0.650000	0.86243	GTG		0.537	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		10	93	1	0	2.17888e-05	0.006214	2.592e-05	10	93				
CRTAM	56253	broad.mit.edu	37	11	122738175	122738175	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:122738175G>T	ENST00000227348.4	+	8	923	c.876G>T	c.(874-876)acG>acT	p.T292T	CRTAM_ENST00000533709.1_Silent_p.T93T	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGCTGCTCACGCTGGTGTCCT	0.418																																							uc001pyj.2		NA																	0				ovary(1)	1						c.(874-876)ACG>ACT		class-I MHC-restricted T cell associated							113.0	102.0	105.0					11																	122738175		2202	4299	6501	SO:0001819	synonymous_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122738175G>T	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.876G>T	11.37:g.122738175G>T						CRTAM_uc001pyk.2_Silent_p.T93T	p.T292T	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	8	876	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	292			Helical; (Potential).			Silent	SNP	ENST00000227348.4	37	c.876G>T	CCDS8437.1																																																																																				0.418	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		3	20	1	0	0.004672	0.004672	0.00511946	3	20				
OR10G4	390264	broad.mit.edu	37	11	123886957	123886957	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:123886957C>T	ENST00000320891.4	+	1	676	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	226			R -> Q (in dbSNP:rs11219408).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCATCCTGCGGATCCGCAC	0.517																																							uc010sac.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(676-678)CGG>TGG		olfactory receptor, family 10, subfamily G,							180.0	149.0	160.0					11																	123886957		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886957C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.676C>T	11.37:g.123886957C>T	ENSP00000325076:p.Arg226Trp						p.R226W	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	676	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	226			Cytoplasmic (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.676C>T	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.308581	0.40895	.	.	ENSG00000254737	ENST00000320891	T	0.00269	8.37	3.33	0.846	0.18955	GPCR, rhodopsin-like superfamily (1);	0.809409	0.10767	N	0.636515	T	0.00524	0.0017	M	0.89095	3.005	0.29551	N	0.851352	D	0.65815	0.995	P	0.58077	0.832	T	0.31613	-0.9937	10	0.72032	D	0.01	.	9.8739	0.41191	0.652:0.348:0.0:0.0	.	226	Q8NGN3	O10G4_HUMAN	W	226	ENSP00000325076:R226W	ENSP00000325076:R226W	R	+	1	2	OR10G4	123392167	0.003000	0.15002	0.990000	0.47175	0.501000	0.33797	1.295000	0.33377	0.055000	0.16094	-0.503000	0.04515	CGG		0.517	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		5	97	0	0	0	0.001984	0	5	97				
IGSF9B	22997	broad.mit.edu	37	11	133791250	133791250	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr11:133791250G>A	ENST00000321016.8	-	18	2600	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	IGSF9B_ENST00000533871.2_Silent_p.L790L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	790					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACGGCGCTCGGAGCGTGCGGA	0.657																																							uc001qgx.3		NA																	0					0						c.(2368-2370)CTC>CTT		immunoglobulin superfamily, member 9B							16.0	17.0	17.0					11																	133791250		2058	4182	6240	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133791250G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2370C>T	11.37:g.133791250G>A							p.L790L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2601	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	790			Cytoplasmic (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.2370C>T																																																																																					0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		4	34	0	0	0	0.009096	0	4	34				
WNK1	65125	broad.mit.edu	37	12	992609	992609	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:992609C>G	ENST00000315939.6	+	16	4181	c.3538C>G	c.(3538-3540)Caa>Gaa	p.Q1180E	WNK1_ENST00000535572.1_Missense_Mutation_p.Q933E|WNK1_ENST00000340908.4_Missense_Mutation_p.Q773E|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1678E|WNK1_ENST00000537687.1_Missense_Mutation_p.Q1440E	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1180					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTTTGTGGATCAAGTGCGAGA	0.388																																					Colon(19;451 567 6672 12618 28860)	Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3538-3540)CAA>GAA		WNK lysine deficient protein kinase 1							129.0	131.0	130.0					12																	992609		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:992609C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3538C>G	12.37:g.992609C>G	ENSP00000313059:p.Gln1180Glu					WNK1_uc001qip.3_Missense_Mutation_p.Q933E|WNK1_uc001qir.3_Missense_Mutation_p.Q353E	p.Q1180E	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		16	4045	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1180					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3538C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863423	0.71949	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000010	T	0.45135	0.1327	L	0.34521	1.04	0.50467	D	0.999878	D;D;D	0.58620	0.983;0.983;0.972	P;P;P	0.60541	0.876;0.826;0.675	T	0.37220	-0.9715	10	0.87932	D	0	-9.6999	19.8228	0.96604	0.0:1.0:0.0:0.0	.	933;933;1180	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	E	933;1180;1440;353;1678;773;80	ENSP00000441972:Q933E;ENSP00000313059:Q1180E;ENSP00000444465:Q1440E;ENSP00000433548:Q1678E;ENSP00000341292:Q773E;ENSP00000446253:Q80E	ENSP00000252477:Q353E	Q	+	1	0	WNK1	862870	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.668000	0.90789	0.650000	0.86243	CAA		0.388	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		3	39	0	0	0	0.004672	0	3	39				
WNK1	65125	broad.mit.edu	37	12	1006841	1006841	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:1006841C>T	ENST00000315939.6	+	25	7085	c.6442C>T	c.(6442-6444)Ctt>Ttt	p.L2148F	WNK1_ENST00000535572.1_Missense_Mutation_p.L1900F|WNK1_ENST00000340908.4_Missense_Mutation_p.L1741F|WNK1_ENST00000530271.2_Missense_Mutation_p.L2646F|WNK1_ENST00000537687.1_Missense_Mutation_p.L2408F	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2148					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAGCCCCCAGCTTTCAGGTAA	0.488																																					Colon(19;451 567 6672 12618 28860)	Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(6442-6444)CTT>TTT		WNK lysine deficient protein kinase 1							33.0	34.0	34.0					12																	1006841		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1006841C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6442C>T	12.37:g.1006841C>T	ENSP00000313059:p.Leu2148Phe					WNK1_uc001qip.3_Missense_Mutation_p.L1900F|WNK1_uc001qir.3_Missense_Mutation_p.L1321F|WNK1_uc009zdm.1_5'Flank|WNK1_uc009zdn.1_5'Flank	p.L2148F	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		25	6949	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2148					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.6442C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587848	0.46110	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908	T;T;T;T;T	0.73047	-0.71;-0.67;-0.66;-0.69;0.51	4.86	4.86	0.63082	.	0.000000	0.49916	D	0.000139	T	0.76040	0.3932	L	0.55990	1.75	0.45227	D	0.998232	D;D;D	0.63046	0.992;0.98;0.965	P;P;P	0.62813	0.907;0.79;0.621	T	0.77253	-0.2656	10	0.62326	D	0.03	-5.6515	7.5667	0.27883	0.1654:0.7507:0.0:0.0839	.	1901;1900;2148	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	F	1900;2148;2408;1321;2646;90;1741	ENSP00000441972:L1900F;ENSP00000313059:L2148F;ENSP00000444465:L2408F;ENSP00000433548:L2646F;ENSP00000341292:L1741F	ENSP00000252477:L1321F	L	+	1	0	WNK1	877102	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.768000	0.55295	2.235000	0.73313	0.561000	0.74099	CTT		0.488	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		3	25	0	0	0	0.004672	0	3	25				
PLEKHG6	55200	broad.mit.edu	37	12	6436574	6436574	+	Missense_Mutation	SNP	C	C	T	rs71584817	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:6436574C>T	ENST00000396988.3	+	15	2055	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R609C|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R139C|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R577C	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	609						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCGTCTACGCCAAAGAGC	0.647													C|||	4	0.000798722	0.0	0.0014	5008	,	,		14395	0.0		0.003	False		,,,				2504	0.0						uc001qnr.2		NA																	0				large_intestine(1)|skin(1)	2						c.(1825-1827)CGC>TGC		pleckstrin homology domain-containing family G		C	CYS/ARG,CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	97.0	100.0	99.0		1825,1729,1825	5.3	0.0	12	dbSNP_130	99	25,8575	17.9+/-57.8	0,25,4275	yes	missense,missense,missense	PLEKHG6	NM_001144856.1,NM_001144857.1,NM_018173.3	180,180,180	0,28,6475	TT,TC,CC		0.2907,0.0681,0.2153	probably-damaging,probably-damaging,probably-damaging	609/791,577/759,609/791	6436574	28,12978	2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436574C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1825C>T	12.37:g.6436574C>T	ENSP00000380185:p.Arg609Cys					PLEKHG6_uc010sew.1_Missense_Mutation_p.R609C|PLEKHG6_uc010sex.1_Missense_Mutation_p.R577C	p.R609C	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN			15	1973	+			609					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.1825C>T	CCDS8541.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	15.20	2.761586	0.49468	6.81E-4	0.002907	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.65364	-0.03;-0.03;-0.15	5.31	5.31	0.75309	.	0.000000	0.56097	D	0.000037	T	0.68760	0.3036	L	0.36672	1.1	0.23192	N	0.998144	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.828	T	0.63014	-0.6731	10	0.56958	D	0.05	-15.5553	14.4737	0.67533	0.0:1.0:0.0:0.0	.	577;609	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	C	609;609;577;139	ENSP00000011684:R609C;ENSP00000380185:R609C;ENSP00000393194:R577C	ENSP00000011684:R609C	R	+	1	0	PLEKHG6	6306835	0.905000	0.30787	0.028000	0.17463	0.127000	0.20565	3.836000	0.55813	2.477000	0.83638	0.561000	0.74099	CGC		0.647	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		6	156	0	0	0	0.001984	0	6	156				
RAPGEF3	10411	broad.mit.edu	37	12	48132935	48132935	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:48132935G>A	ENST00000449771.2	-	24	2540	c.2452C>T	c.(2452-2454)Ctt>Ttt	p.L818F	RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L709F|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.L776F|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L818F|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L776F|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L776F|RP1-197B17.3_ENST00000547799.1_lincRNA			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	818	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCTTTGAGAAGAAGGGGCATG	0.602																																							uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(2326-2328)CTT>TTT		Rap guanine nucleotide exchange factor 3 isoform							100.0	77.0	85.0					12																	48132935		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48132935G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2452C>T	12.37:g.48132935G>A	ENSP00000395708:p.Leu818Phe					uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Missense_Mutation_p.L111F|RAPGEF3_uc001rpx.2_Missense_Mutation_p.L233F|RAPGEF3_uc010sln.1_Missense_Mutation_p.L273F|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.L776F|RAPGEF3_uc001rpz.3_Missense_Mutation_p.L818F	p.L776F	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	23	2766	-	Lung SC(27;0.192)		776					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.2326C>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269901	0.80469	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	4.66	4.66	0.58398	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.074272	0.56097	D	0.000038	T	0.43255	0.1239	L	0.46885	1.475	0.58432	D	0.999998	P	0.51240	0.943	P	0.59487	0.858	T	0.30416	-0.9979	10	0.87932	D	0	.	11.8341	0.52312	0.0:0.0:0.8248:0.1752	.	818	O95398	RPGF3_HUMAN	F	776;818;465;776;776;776;818;763;709	ENSP00000384521:L776F;ENSP00000395708:L818F;ENSP00000448619:L776F;ENSP00000171000:L776F;ENSP00000373864:L818F;ENSP00000448480:L709F	ENSP00000171000:L776F	L	-	1	0	RAPGEF3	46419202	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	4.153000	0.58118	2.579000	0.87056	0.561000	0.74099	CTT		0.602	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		6	28	0	0	0	0.00308	0	6	28				
COL2A1	1280	broad.mit.edu	37	12	48372469	48372469	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:48372469C>T	ENST00000380518.3	-	42	2970	c.2806G>A	c.(2806-2808)Ggc>Agc	p.G936S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G867S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	936	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)	CCAGGGGGGCCGCTGTCTCCT	0.637																																							uc001rqu.2		NA																	0				ovary(1)|skin(1)	2						c.(2806-2808)GGC>AGC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						29.0	31.0	30.0					12																	48372469		2203	4300	6503	SO:0001583	missense	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.chr12:48372469C>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.2806G>A	12.37:g.48372469C>T	ENSP00000369889:p.Gly936Ser					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G867S	p.G936S	NM_001844	NP_001835	P02458	CO2A1_HUMAN			42	2987	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	936			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	Missense_Mutation	SNP	ENST00000380518.3	37	c.2806G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851688	0.71719	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99167	-5.51;-5.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97506	1.0063	10	0.87932	D	0	.	18.9167	0.92508	0.0:1.0:0.0:0.0	.	867;936	P02458-1;P02458	.;CO2A1_HUMAN	S	936;867;867	ENSP00000369889:G936S;ENSP00000338213:G867S	ENSP00000338213:G867S	G	-	1	0	COL2A1	46658736	1.000000	0.71417	0.128000	0.21923	0.351000	0.29236	7.770000	0.85390	2.573000	0.86826	0.655000	0.94253	GGC		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	33	0	0	0	0.001984	0	6	33				
RHEBL1	121268	broad.mit.edu	37	12	49460259	49460259	+	Splice_Site	SNP	C	C	T	rs148047837		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:49460259C>T	ENST00000301068.6	-	5	571	c.332G>A	c.(331-333)cGg>cAg	p.R111Q		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	111					GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|large_intestine(2)|lung(5)	9						GGCCACTTACCGGGTTTTCCC	0.483																																							uc001rtc.1		NA																	0				lung(1)|breast(1)	2						c.(331-333)CGG>CAG		Ras homolog enriched in brain like 1 precursor		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	300.0	316.0	311.0		332	2.2	0.7	12	dbSNP_134	311	0,8600		0,0,4300	no	missense-near-splice	RHEBL1	NM_144593.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	111/184	49460259	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	121268				positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:49460259C>T	AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.332+1G>A	12.37:g.49460259C>T						RHEBL1_uc001rtd.1_Missense_Mutation_p.R107Q|RHEBL1_uc009zlc.1_RNA	p.R111Q	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN			5	539	-			111					Q56VH8	Missense_Mutation	SNP	ENST00000301068.6	37	c.332G>A	CCDS8778.1	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092188	0.01858	2.27E-4	0.0	ENSG00000167550	ENST00000301068	T	0.80214	-1.35	5.09	2.23	0.28157	Small GTP-binding protein domain (1);	0.258042	0.39146	N	0.001443	T	0.58395	0.2119	N	0.11427	0.14	0.23238	N	0.998062	B	0.06786	0.001	B	0.04013	0.001	T	0.40887	-0.9539	9	.	.	.	.	7.6238	0.28200	0.0:0.7198:0.0:0.2802	.	111	Q8TAI7	REBL1_HUMAN	Q	111	ENSP00000301068:R111Q	.	R	-	2	0	RHEBL1	47746526	0.977000	0.34250	0.689000	0.30133	0.153000	0.21895	0.974000	0.29436	0.658000	0.30925	0.591000	0.81541	CGG		0.483	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408969.1	NM_144593	Missense_Mutation	14	457	0	0	0	0.004007	0	14	457				
KRT7	3855	broad.mit.edu	37	12	52635264	52635264	+	Silent	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:52635264A>T	ENST00000331817.5	+	5	885	c.702A>T	c.(700-702)acA>acT	p.T234T		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	234	Coil 1B.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	AGGAGTTGACAGAGCTGCAGT	0.577																																							uc001saa.1		NA																	0					0						c.(700-702)ACA>ACT		keratin 7							82.0	71.0	75.0					12																	52635264		2203	4300	6503	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52635264A>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.702A>T	12.37:g.52635264A>T						KRT7_uc009zmf.1_Silent_p.T234T	p.T234T	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	5	829	+			234			Rod.|Coil 1B.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.702A>T	CCDS8822.1																																																																																				0.577	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		4	64	0	0	0	0.001168	0	4	64				
LRP1	4035	broad.mit.edu	37	12	57590912	57590912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:57590912C>T	ENST00000243077.3	+	56	9506	c.9040C>T	c.(9040-9042)Cgc>Tgc	p.R3014C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3014	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTATGCACCCCGCGGCGGCGA	0.637																																							uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(9040-9042)CGC>TGC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						92.0	92.0	92.0					12																	57590912		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57590912C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9040C>T	12.37:g.57590912C>T	ENSP00000243077:p.Arg3014Cys						p.R3014C	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	56	9506	+			3014			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9040C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754067	0.49362	.	.	ENSG00000123384	ENST00000243077	D	0.87256	-2.23	5.16	5.16	0.70880	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.077298	0.52532	D	0.000074	D	0.82536	0.5058	L	0.45137	1.4	0.80722	D	1	D	0.62365	0.991	B	0.43623	0.425	T	0.83235	-0.0061	10	0.51188	T	0.08	.	11.0405	0.47827	0.2888:0.7112:0.0:0.0	.	3014	Q07954	LRP1_HUMAN	C	3014	ENSP00000243077:R3014C	ENSP00000243077:R3014C	R	+	1	0	LRP1	55877179	0.865000	0.29922	0.560000	0.28344	0.848000	0.48234	1.696000	0.37773	2.679000	0.91253	0.511000	0.50034	CGC		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	72	0	0	0	0.004482	0	9	72				
SRGAP1	57522	broad.mit.edu	37	12	64437229	64437229	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:64437229A>G	ENST00000355086.3	+	6	1199	c.675A>G	c.(673-675)agA>agG	p.R225R	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.R225R|SRGAP1_ENST00000543397.1_Silent_p.R185R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	225	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CATTCCAGAGACAAGCAAAAT	0.333																																							uc010ssp.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(673-675)AGA>AGG		SLIT-ROBO Rho GTPase activating protein 1							73.0	67.0	69.0					12																	64437229		2203	4299	6502	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64437229A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.675A>G	12.37:g.64437229A>G						SRGAP1_uc001srt.2_Silent_p.R225R|SRGAP1_uc001srv.2_Silent_p.R185R	p.R225R	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	6	731	+			225					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.675A>G	CCDS8967.1																																																																																				0.333	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			4	21	0	0	0	0.009096	0	4	21				
SELPLG	6404	broad.mit.edu	37	12	109017937	109017937	+	Silent	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:109017937T>C	ENST00000550948.1	-	2	371	c.147A>G	c.(145-147)ctA>ctG	p.L49L	SELPLG_ENST00000388962.3_Silent_p.L49L|SELPLG_ENST00000228463.6_Silent_p.L65L			Q14242	SELPL_HUMAN	selectin P ligand	49					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						AATCATAATCTAGGTACTCAT	0.572																																							uc001tni.2		NA																	0					0						c.(145-147)CTA>CTG		selectin P ligand							89.0	82.0	85.0					12																	109017937		2203	4300	6503	SO:0001819	synonymous_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017937T>C		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.147A>G	12.37:g.109017937T>C						SELPLG_uc001tnh.2_Silent_p.L49L|SELPLG_uc010sxe.1_Silent_p.L65L	p.L49L	NM_003006	NP_002997	Q14242	SELPL_HUMAN			2	307	-			49	YEYLDY->FEFLDF: No sulfation. Almost complete loss of P-selectin binding. No effect on E-selectin binding.|YEYLDYD->FEFLDFE: No sulfation. Almost complete loss of P-selectin binding. No effect on E-selectin binding.		Extracellular (Potential).		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	c.147A>G	CCDS31895.2																																																																																				0.572	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			3	54	0	0	0	0.009096	0	3	54				
TBX5	6910	broad.mit.edu	37	12	114793577	114793577	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:114793577C>G	ENST00000310346.4	-	9	1983	c.1317G>C	c.(1315-1317)ctG>ctC	p.L439L	TBX5_ENST00000405440.2_Silent_p.L439L|TBX5_ENST00000349716.5_Silent_p.L389L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	439				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCATGCCAGCCAGCCGAGGGA	0.662																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1315-1317)CTG>CTC		T-box 5 isoform 1							21.0	24.0	23.0					12																	114793577		2202	4298	6500	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793577C>G	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1317G>C	12.37:g.114793577C>G						TBX5_uc001tvp.2_Silent_p.L439L|TBX5_uc001tvq.2_Silent_p.L389L	p.L439L	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1812	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		439	MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.1317G>C	CCDS9173.1																																																																																				0.662	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		4	28	0	0	0	0.009096	0	4	28				
RFC5	5985	broad.mit.edu	37	12	118467620	118467620	+	Missense_Mutation	SNP	G	G	A	rs376942205		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:118467620G>A	ENST00000454402.2	+	10	1034	c.916G>A	c.(916-918)Gca>Aca	p.A306T	RFC5_ENST00000229043.3_Missense_Mutation_p.A221T|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000392542.2_Missense_Mutation_p.A285T	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	306					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)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACCAAAATGGCAGACATTGA	0.358																																							uc001twq.2		NA																	0					0						c.(916-918)GCA>ACA		replication factor C 5 isoform 1		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	250.0	229.0	236.0		661,907,916,853	5.0	1.0	12		236	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RFC5	NM_001130112.2,NM_001206801.1,NM_007370.5,NM_181578.3	58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	221/256,303/338,306/341,285/320	118467620	1,13005	2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|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|enzyme binding	g.chr12:118467620G>A		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.916G>A	12.37:g.118467620G>A	ENSP00000408295:p.Ala306Thr					RFC5_uc010syx.1_Missense_Mutation_p.A285T|RFC5_uc010syy.1_Missense_Mutation_p.A285T|RFC5_uc010syz.1_Missense_Mutation_p.A221T|RFC5_uc009zwr.2_Missense_Mutation_p.A303T	p.A306T	NM_007370	NP_031396	P40937	RFC5_HUMAN			10	1041	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		306					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.916G>A	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226943	0.95173	0.0	1.16E-4	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.53857	0.6;0.6;0.6	4.97	4.97	0.65823	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	M	0.92459	3.31	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.69824	0.965;0.966;0.966	D	0.84191	0.0445	10	0.87932	D	0	-22.8103	17.5331	0.87819	0.0:0.0:1.0:0.0	.	285;317;306	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	T	221;306;285	ENSP00000229043:A221T;ENSP00000408295:A306T;ENSP00000376325:A285T	ENSP00000229043:A221T	A	+	1	0	RFC5	116952003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.119000	0.94362	2.735000	0.93741	0.655000	0.94253	GCA		0.358	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		10	99	0	0	0	0.001855	0	10	99				
ATP6V0A2	23545	broad.mit.edu	37	12	124235710	124235710	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr12:124235710C>T	ENST00000330342.3	+	16	2237	c.1989C>T	c.(1987-1989)ctC>ctT	p.L663L	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	663					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TCCCTGTCCTCTTCTTGGGAA	0.502																																							uc001ufr.2		NA																	0				ovary(2)	2						c.(1987-1989)CTC>CTT		ATPase, H+ transporting, lysosomal V0 subunit							285.0	219.0	241.0					12																	124235710		2203	4300	6503	SO:0001819	synonymous_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124235710C>T	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1989C>T	12.37:g.124235710C>T							p.L663L	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	16	2237	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		663			Helical; (Potential).		A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	c.1989C>T	CCDS9254.1																																																																																				0.502	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		19	126	0	0	0	0.006122	0	19	126				
ZMYM5	9205	broad.mit.edu	37	13	20409647	20409647	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:20409647G>A	ENST00000337963.4	-	7	1485	c.1221C>T	c.(1219-1221)tgC>tgT	p.C407C		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	407						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AACTTTGGCAGCAAAATCTCT	0.373																																							uc010tcn.1		NA																	0					0						c.(1219-1221)TGC>TGT		zinc finger protein 237 isoform 3							71.0	62.0	65.0					13																	20409647		1568	3582	5150	SO:0001819	synonymous_variant	9205					nucleus	zinc ion binding	g.chr13:20409647G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1221C>T	13.37:g.20409647G>A						ZMYM5_uc001umm.1_Silent_p.C231C	p.C407C	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	7	1486	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	407			MYM-type 4.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Silent	SNP	ENST00000337963.4	37	c.1221C>T																																																																																					0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		3	47	0	0	0	0.004672	0	3	47				
C1QTNF9	338872	broad.mit.edu	37	13	24895869	24895869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:24895869C>A	ENST00000382071.2	+	4	1050	c.965C>A	c.(964-966)aCa>aAa	p.T322K	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.T322K|AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	322	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GACGATGACACAACTTTCACA	0.517																																							uc001upj.2		NA																	0					0						c.(964-966)ACA>AAA		C1q and tumor necrosis factor related protein 9							115.0	124.0	121.0					13																	24895869		2203	4300	6503	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24895869C>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.965C>A	13.37:g.24895869C>A	ENSP00000371503:p.Thr322Lys					C1QTNF9_uc001upe.2_RNA	p.T322K	NM_178540	NP_848635	P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	1026	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	322			C1q.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.965C>A	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.150677	0.78001	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	T;T	0.39406	1.08;1.08	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.86953	2.85	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.76247	-0.3029	10	0.87932	D	0	.	15.5078	0.75753	0.0:1.0:0.0:0.0	.	322	P0C862	C1T9A_HUMAN	K	322	ENSP00000371503:T322K;ENSP00000333737:T322K	ENSP00000333737:T322K	T	+	2	0	C1QTNF9	23793869	1.000000	0.71417	0.633000	0.29310	0.813000	0.45954	4.713000	0.61895	2.180000	0.69256	0.430000	0.28490	ACA		0.517	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		16	172	1	0	0.000422831	0.004007	0.000479538	16	172				
FREM2	341640	broad.mit.edu	37	13	39266294	39266294	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:39266294A>C	ENST00000280481.7	+	1	5029	c.4813A>C	c.(4813-4815)Aaa>Caa	p.K1605Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1605					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AATCAGCTACAAACATGATGG	0.418																																							uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(4813-4815)AAA>CAA		FRAS1-related extracellular matrix protein 2							119.0	113.0	115.0					13																	39266294		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266294A>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4813A>C	13.37:g.39266294A>C	ENSP00000280481:p.Lys1605Gln						p.K1605Q	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	5122	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1605			Extracellular (Potential).|CSPG 11.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4813A>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459250	0.26248	.	.	ENSG00000150893	ENST00000280481	T	0.26518	1.73	6.08	4.88	0.63580	.	0.243192	0.47455	D	0.000235	T	0.19406	0.0466	L	0.28556	0.865	0.51012	D	0.999909	B	0.12630	0.006	B	0.11329	0.006	T	0.03493	-1.1031	10	0.21540	T	0.41	.	13.4848	0.61359	0.8694:0.1306:0.0:0.0	.	1605	Q5SZK8	FREM2_HUMAN	Q	1605	ENSP00000280481:K1605Q	ENSP00000280481:K1605Q	K	+	1	0	FREM2	38164294	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	7.475000	0.81041	1.098000	0.41479	0.533000	0.62120	AAA		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	67	0	0	0	0.009096	0	4	67				
NEK3	4752	broad.mit.edu	37	13	52707317	52707317	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:52707317C>T	ENST00000400357.2	-	14	2724	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L	NEK3_ENST00000339406.3_Silent_p.L494L|NEK3_ENST00000378101.2_Silent_p.L494L|NEK3_ENST00000452082.2_Silent_p.L498L			P51956	NEK3_HUMAN	NIMA-related kinase 3	494			E -> K (in dbSNP:rs34488913). {ECO:0000269|PubMed:17344846}.		mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CTCGCTTCTTCAGCTCTGACA	0.498																																							uc001vgi.2		NA																	0				ovary(1)|stomach(1)	2						c.(1480-1482)CTG>CTA		NIMA-related kinase 3 isoform a							53.0	53.0	53.0					13																	52707317		2062	4225	6287	SO:0001819	synonymous_variant	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52707317C>T	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1431G>A	13.37:g.52707317C>T						NEK3_uc001vgg.2_Silent_p.L471L|NEK3_uc001vgh.2_Silent_p.L498L|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Silent_p.L477L	p.L494L	NM_152720	NP_689933	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	18	1717	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	494					A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Silent	SNP	ENST00000400357.2	37	c.1482G>A	CCDS53871.1																																																																																				0.498	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			5	17	0	0	0	0.000602	0	5	17				
PCDH9	5101	broad.mit.edu	37	13	67801390	67801390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:67801390C>A	ENST00000377865.2	-	1	1317	c.1183G>T	c.(1183-1185)Gtg>Ttg	p.V395L	PCDH9_ENST00000377861.3_Missense_Mutation_p.V395L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V395L|PCDH9_ENST00000544246.1_Missense_Mutation_p.V395L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V395L			Q9HC56	PCDH9_HUMAN	protocadherin 9	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGCCATTCACATCTGTGTCC	0.373																																							uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1183-1185)GTG>TTG		protocadherin 9 isoform 1 precursor							112.0	108.0	109.0					13																	67801390		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801390C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1183G>T	13.37:g.67801390C>A	ENSP00000367096:p.Val395Leu					PCDH9_uc001vil.2_Missense_Mutation_p.V395L|PCDH9_uc010thl.1_Missense_Mutation_p.V395L|PCDH9_uc001vin.3_Missense_Mutation_p.V395L	p.V395L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1875	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	395			Extracellular (Potential).|Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1183G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	7.497	0.651915	0.14516	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.053868	0.85682	D	0.000000	T	0.30947	0.0781	N	0.03948	-0.315	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.004;0.002;0.004	T	0.10613	-1.0622	10	0.40728	T	0.16	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	395;395;395;395	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	L	395	ENSP00000442186:V395L;ENSP00000367096:V395L;ENSP00000401699:V395L;ENSP00000332060:V395L;ENSP00000367092:V395L	ENSP00000332060:V395L	V	-	1	0	PCDH9	66699391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.938000	0.70170	2.941000	0.99782	0.655000	0.94253	GTG		0.373	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		4	82	1	0	0.00909568	0.009096	0.00980116	4	82				
CARS2	79587	broad.mit.edu	37	13	111290831	111290831	+	IGR	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr13:111290831A>T	ENST00000257347.4	-	0	1879				CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Missense_Mutation_p.I203F|CARKD_ENST00000309957.2_Missense_Mutation_p.D379V|CARKD_ENST00000424185.2_Missense_Mutation_p.I224F	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)						cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CTCCGACATGATCGCCGAGGT	0.632																																							uc001vrb.2		NA																	0				skin(1)	1						c.(1000-1002)ATC>TTC		RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;							40.0	44.0	43.0					13																	111290831		2203	4299	6502	SO:0001628	intergenic_variant	55739							g.chr13:111290831A>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347		13.37:g.111290831A>T						CARKD_uc010tjj.1_Missense_Mutation_p.I316F|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.I224F|CARKD_uc010tjl.1_Missense_Mutation_p.I203F|CARKD_uc001vrc.2_Missense_Mutation_p.D379V	p.I334F			Q8IW45	CARKD_HUMAN			10	1014	+			334			YjeF C-terminal.		Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.1000A>T	CCDS9514.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.86|18.86	3.713298|3.713298	0.68730|0.68730	.|.	.|.	ENSG00000213995|ENSG00000213995	ENST00000309957|ENST00000458711;ENST00000424185	T|T;T	0.29655|0.24538	1.56|1.85;1.85	5.4|5.4	-3.43|-3.43	0.04810|0.04810	.|Uncharacterised domain, carbohydrate kinase-related (3);	0.673304|.	0.11579|.	N|.	0.549915|.	T|T	0.39009|0.39009	0.1062|0.1062	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|D;P;B	0.61080|0.60160	0.989|0.987;0.84;0.347	P|P;P;P	0.61201|0.62813	0.885|0.907;0.582;0.564	T|T	0.30504|0.30504	-0.9976|-0.9976	9|8	0.72032|0.28530	D|T	0.01|0.3	2.0E-4|2.0E-4	13.3689|13.3689	0.60701|0.60701	0.4913:0.0:0.5087:0.0|0.4913:0.0:0.5087:0.0	.|.	379|203;224;334	Q8IW45-2|B4DQR1;Q8IW45-4;Q8IW45	.|.;.;CARKD_HUMAN	V|F	379|203;224	ENSP00000311984:D379V|ENSP00000412789:I203F;ENSP00000413191:I224F	ENSP00000311984:D379V|ENSP00000413191:I224F	D|I	+|+	2|1	0|0	CARKD|CARKD	110088832|110088832	1.000000|1.000000	0.71417|0.71417	0.061000|0.061000	0.19648|0.19648	0.730000|0.730000	0.41778|0.41778	1.756000|1.756000	0.38390|0.38390	-0.887000|-0.887000	0.03961|0.03961	-0.366000|-0.366000	0.07423|0.07423	GAT|ATC		0.632	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		15	64	0	0	0	0.004007	0	15	64				
PARP2	10038	broad.mit.edu	37	14	20815046	20815046	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:20815046G>C	ENST00000250416.5	+	4	364	c.337G>C	c.(337-339)Gat>Cat	p.D113H	PARP2_ENST00000527915.1_Missense_Mutation_p.D113H|RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.D100H	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	113					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGAAGGAAATGATGTCTATGA	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																															uc001vxc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(337-339)GAT>CAT	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 2							176.0	170.0	172.0					14																	20815046		1883	4132	6015	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20815046G>C	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.337G>C	14.37:g.20815046G>C	ENSP00000250416:p.Asp113His					PARP2_uc001vxd.2_Missense_Mutation_p.D100H|PARP2_uc001vxb.1_Missense_Mutation_p.D113H	p.D113H	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	4	365	+	all_cancers(95;0.00092)	all_lung(585;0.235)	113					Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.337G>C	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871806	0.51695	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.17528	2.27;2.27;2.27	5.86	4.96	0.65561	WGR domain (2);	0.233439	0.42821	D	0.000657	T	0.44244	0.1284	M	0.83384	2.64	0.37959	D	0.932927	D;D	0.61080	0.971;0.989	P;D	0.62955	0.621;0.909	T	0.53676	-0.8405	10	0.45353	T	0.12	-13.4945	17.0558	0.86533	0.0685:0.0:0.9315:0.0	.	100;113	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	H	100;113;113	ENSP00000392972:D100H;ENSP00000250416:D113H;ENSP00000432283:D113H	ENSP00000250416:D113H	D	+	1	0	PARP2	19884886	1.000000	0.71417	0.959000	0.39883	0.539000	0.34962	3.455000	0.52993	0.838000	0.34948	-0.813000	0.03139	GAT		0.368	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			5	40	0	0	0	0.001168	0	5	40				
OR4E2	26686	broad.mit.edu	37	14	22133768	22133768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:22133768G>T	ENST00000408935.1	+	1	472	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G158W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCACTCACTAGGGCAGACCTT	0.488																																							uc010tmd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(472-474)GGG>TGG		olfactory receptor, family 4, subfamily E,							165.0	158.0	161.0					14																	22133768		1991	4195	6186	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133768G>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.472G>T	14.37:g.22133768G>T	ENSP00000386195:p.Gly158Trp						p.G158W	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	472	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	158			Helical; Name=4; (Potential).		Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.472G>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739905	0.69304	.	.	ENSG00000221977	ENST00000408935	T	0.37235	1.21	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.230675	0.21428	U	0.074707	T	0.45196	0.1330	L	0.28014	0.82	0.30097	N	0.807797	D	0.56521	0.976	P	0.60473	0.875	T	0.45160	-0.9280	10	0.87932	D	0	.	15.501	0.75698	0.0:0.0:1.0:0.0	.	158	Q8NGC2	OR4E2_HUMAN	W	158	ENSP00000386195:G158W	ENSP00000386195:G158W	G	+	1	0	OR4E2	21203608	0.002000	0.14202	0.988000	0.46212	0.891000	0.51852	1.232000	0.32636	2.730000	0.93505	0.585000	0.79938	GGG		0.488	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			15	114	1	0	2.32078e-09	0.003163	3.06029e-09	15	114				
FERMT2	10979	broad.mit.edu	37	14	53325133	53325133	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:53325133C>T	ENST00000395631.2	-	15	2221	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	FERMT2_ENST00000553373.1_Missense_Mutation_p.E676K|FERMT2_ENST00000343279.4_Missense_Mutation_p.E676K|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_Missense_Mutation_p.E669K			Q96AC1	FERM2_HUMAN	fermitin family member 2	669					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AACATCTCTTCATCTAAACTC	0.363																																							uc001xad.2		NA																	0					0						c.(2005-2007)GAA>AAA		fermitin family homolog 2 isoform 1							224.0	193.0	204.0					14																	53325133		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53325133C>T	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.2005G>A	14.37:g.53325133C>T	ENSP00000378993:p.Glu669Lys					FERMT2_uc001xac.2_Missense_Mutation_p.E676K|FERMT2_uc001xae.2_Missense_Mutation_p.E669K	p.E669K	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN			15	2060	-	Breast(41;0.0342)		669					B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.2005G>A	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028895	0.93518	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.85197	2.74	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.979	T	0.67776	-0.5583	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	669;676	Q96AC1;B5TJY2	FERM2_HUMAN;.	K	669;669;629;676;676	ENSP00000378993:E669K;ENSP00000340391:E669K;ENSP00000450741:E629K;ENSP00000342858:E676K;ENSP00000451084:E676K	ENSP00000340391:E669K	E	-	1	0	FERMT2	52394883	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.796000	0.85898	2.937000	0.99478	0.650000	0.86243	GAA		0.363	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		9	60	0	0	0	0.010729	0	9	60				
PRKCH	5583	broad.mit.edu	37	14	61997242	61997242	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:61997242G>A	ENST00000332981.5	+	12	2075	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	PRKCH_ENST00000555082.1_Missense_Mutation_p.E403K|RP11-47I22.4_ENST00000556347.1_Silent_p.L68L	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	564	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGACCTCTTTGAGGCCATACT	0.522																																					Melanoma(135;863 1779 8064 14443 26348)	Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(1690-1692)GAG>AAG		protein kinase C, eta							201.0	160.0	174.0					14																	61997242		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61997242G>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1690G>A	14.37:g.61997242G>A	ENSP00000329127:p.Glu564Lys					PRKCH_uc010tsa.1_Missense_Mutation_p.E403K|PRKCH_uc010tsb.1_Missense_Mutation_p.E132K	p.E564K	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	12	1995	+			564			Protein kinase.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1690G>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	36	5.887321	0.97068	.	.	ENSG00000027075	ENST00000555185;ENST00000332981;ENST00000555082	T;T;T	0.65364	-0.15;0.65;0.65	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000009	T	0.68430	0.3000	N	0.16656	0.425	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.73228	-0.4049	10	0.72032	D	0.01	.	19.7167	0.96124	0.0:0.0:1.0:0.0	.	564	P24723	KPCL_HUMAN	K	132;564;403	ENSP00000451871:E132K;ENSP00000329127:E564K;ENSP00000450981:E403K	ENSP00000329127:E564K	E	+	1	0	PRKCH	61066995	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.796000	0.99103	2.667000	0.90743	0.655000	0.94253	GAG		0.522	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		12	86	0	0	0	0.001855	0	12	86				
KCNH5	27133	broad.mit.edu	37	14	63174541	63174541	+	Silent	SNP	C	C	A	rs143147156	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:63174541C>A	ENST00000322893.7	-	11	2920	c.2652G>T	c.(2650-2652)ccG>ccT	p.P884P	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	884					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTGCTCTAGCGGACTTCGGG	0.502																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2650-2652)CCG>CCT		potassium voltage-gated channel, subfamily H,							120.0	109.0	113.0					14																	63174541		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174541C>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2652G>T	14.37:g.63174541C>A						KCNH5_uc001xfy.2_3'UTR	p.P884P	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2703	-			884			Cytoplasmic (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.2652G>T	CCDS9756.1																																																																																				0.502	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		16	100	1	0	4.7546e-09	0.004007	6.20651e-09	16	100				
ESRRB	2103	broad.mit.edu	37	14	76948464	76948464	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:76948464A>T	ENST00000509242.1	+	5	718	c.620A>T	c.(619-621)aAg>aTg	p.K207M	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.K207M|ESRRB_ENST00000380887.2_Missense_Mutation_p.K207M|ESRRB_ENST00000261532.7_Missense_Mutation_p.K207M	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	207					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTGCTAAAAAGCCATGTGAG	0.542																																							uc001xsq.1		NA																	0				ovary(1)|skin(1)	2						c.(619-621)AAG>ATG		estrogen-related receptor beta							62.0	58.0	59.0					14																	76948464		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76948464A>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.620A>T	14.37:g.76948464A>T	ENSP00000422488:p.Lys207Met					ESRRB_uc001xsr.2_Missense_Mutation_p.K207M|ESRRB_uc001xso.2_RNA	p.K207M	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	4	687	+			207					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.620A>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834275	0.91036	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.98	4.98	0.66077	.	0.107097	0.64402	D	0.000005	T	0.62660	0.2446	M	0.74881	2.28	0.58432	D	0.999999	P;D	0.62365	0.904;0.991	P;P	0.57776	0.608;0.827	T	0.63014	-0.6731	10	0.31617	T	0.26	.	14.6886	0.69068	1.0:0.0:0.0:0.0	.	207;212	Q5F0P7;E7EWD9	.;.	M	212;207;207;207;207	ENSP00000424992:K212M;ENSP00000422488:K207M;ENSP00000451658:K207M;ENSP00000370270:K207M;ENSP00000261532:K207M	ENSP00000261532:K207M	K	+	2	0	ESRRB	76018217	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	1.864000	0.54056	0.533000	0.62120	AAG		0.542	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			5	42	0	0	0	0.000602	0	5	42				
ADCK1	57143	broad.mit.edu	37	14	78353523	78353523	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr14:78353523G>T	ENST00000238561.5	+	5	612	c.513G>T	c.(511-513)cgG>cgT	p.R171R	ADCK1_ENST00000341211.5_Silent_p.R103R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	178	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGATGGGCGGACGGTGGCCG	0.607																																							uc001xui.2		NA																	0				stomach(2)|ovary(1)	3						c.(511-513)CGG>CGT		aarF domain containing kinase 1 isoform a							90.0	85.0	87.0					14																	78353523		2203	4300	6503	SO:0001819	synonymous_variant	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78353523G>T	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.513G>T	14.37:g.78353523G>T						ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.2_Silent_p.R103R|ADCK1_uc001xuk.1_Silent_p.R45R	p.R171R	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	5	612	+			178			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	c.513G>T	CCDS9869.1																																																																																				0.607	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		8	98	1	0	0.000157383	0.00308	0.000180065	8	98				
RYR3	6263	broad.mit.edu	37	15	34151830	34151830	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:34151830G>C	ENST00000389232.4	+	100	14267	c.14197G>C	c.(14197-14199)Gaa>Caa	p.E4733Q	RP11-3D4.3_ENST00000560404.1_RNA|RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.E4728Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4733					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATTGGTGATGAAATTGAAGA	0.423																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(14197-14199)GAA>CAA		ryanodine receptor 3							285.0	281.0	282.0					15																	34151830		2028	4179	6207	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34151830G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14197G>C	15.37:g.34151830G>C	ENSP00000373884:p.Glu4733Gln					RYR3_uc010bar.2_Missense_Mutation_p.E4728Q	p.E4733Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	100	14267	+		all_lung(180;7.18e-09)	4733					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.14197G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917451	0.92249	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98602	-5.02	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.88181	2.935	0.58432	D	0.999997	P;D	0.60160	0.917;0.987	P;D	0.75484	0.871;0.986	D	0.99338	1.0911	10	0.66056	D	0.02	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	4728;4733	Q15413-2;Q15413	.;RYR3_HUMAN	Q	4733;4729	ENSP00000373884:E4733Q	ENSP00000354735:E4729Q	E	+	1	0	RYR3	31939122	1.000000	0.71417	0.959000	0.39883	0.857000	0.48899	9.503000	0.97984	2.884000	0.98904	0.655000	0.94253	GAA		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	41	0	0	0	0.009096	0	4	41				
GPR176	11245	broad.mit.edu	37	15	40093560	40093561	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:40093560_40093561CC>AT	ENST00000561100.1	-	3	2185_2186	c.1320_1321GG>AT	c.(1318-1323)gtGGaa>gtATaa	p.E441*	GPR176_ENST00000299092.3_Nonsense_Mutation_p.E440*|GPR176_ENST00000543580.1_Nonsense_Mutation_p.E396*|GPR176_ENST00000560729.1_5'Flank|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	441					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GTTTCAGGTTCCACAGGGGCTG	0.594																																							uc001zkj.1		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1318-1323)GTGGAA>GTATAA		G protein-coupled receptor 176																																				SO:0001587	stop_gained	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093560_40093561CC>AT	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1320_1321delinsAT	15.37:g.40093560_40093561delinsAT	ENSP00000453076:p.Glu441*					GPR176_uc010uck.1_Nonsense_Mutation_p.E381*	p.E441*	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	2186_2187	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	441			Cytoplasmic (Potential).		Q6NXF6	Nonsense_Mutation	DNP	ENST00000561100.1	37	c.1320_1321GG>AT	CCDS10051.1																																																																																				0.594	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		6	140	0	0	0	0.004672	0	6	140				
MGA	23269	broad.mit.edu	37	15	42041375	42041375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:42041375C>T	ENST00000570161.1	+	16	5570	c.5570C>T	c.(5569-5571)tCg>tTg	p.S1857L	MGA_ENST00000545763.1_Missense_Mutation_p.S1648L|MGA_ENST00000219905.7_Missense_Mutation_p.S1857L|MGA_ENST00000566586.1_Missense_Mutation_p.S1648L|MGA_ENST00000389936.4_Missense_Mutation_p.S1818L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTCCACTTCGTCCTCTGCT	0.443																																							uc010ucy.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(5569-5571)TCG>TTG		MAX-interacting protein isoform 1							122.0	117.0	119.0					15																	42041375		1965	4152	6117	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041375C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5570C>T	15.37:g.42041375C>T	ENSP00000457035:p.Ser1857Leu					MGA_uc010ucz.1_Missense_Mutation_p.S1648L|MGA_uc010uda.1_Missense_Mutation_p.S473L|MGA_uc001zoi.2_Missense_Mutation_p.S71L	p.S1857L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	5751	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1818					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.5570C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960262	0.34565	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.41400	1.0;1.0;1.0	5.72	5.72	0.89469	.	0.162448	0.28809	N	0.014062	T	0.44074	0.1276	N	0.14661	0.345	0.09310	N	1	D;D;D;D	0.76494	0.985;0.991;0.999;0.999	P;P;D;D	0.72625	0.456;0.606;0.978;0.978	T	0.37033	-0.9723	10	0.52906	T	0.07	.	9.5648	0.39391	0.0:0.7735:0.1458:0.0806	.	473;1648;1857;1818	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	L	1857;1818;1648	ENSP00000219905:S1857L;ENSP00000374586:S1818L;ENSP00000442467:S1648L	ENSP00000219905:S1857L	S	+	2	0	MGA	39828667	0.376000	0.25098	0.986000	0.45419	0.229000	0.25112	3.106000	0.50322	2.704000	0.92352	0.563000	0.77884	TCG		0.443	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		6	81	0	0	0	0.001984	0	6	81				
MGA	23269	broad.mit.edu	37	15	42041491	42041491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:42041491C>T	ENST00000570161.1	+	16	5686	c.5686C>T	c.(5686-5688)Cag>Tag	p.Q1896*	MGA_ENST00000545763.1_Nonsense_Mutation_p.Q1687*|MGA_ENST00000219905.7_Nonsense_Mutation_p.Q1896*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q1687*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q1857*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTGTGTCTCAGGCTGGTAC	0.438																																							uc010ucy.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(5686-5688)CAG>TAG		MAX-interacting protein isoform 1							97.0	88.0	91.0					15																	42041491		1911	4127	6038	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041491C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5686C>T	15.37:g.42041491C>T	ENSP00000457035:p.Gln1896*					MGA_uc010ucz.1_Nonsense_Mutation_p.Q1687*|MGA_uc010uda.1_Nonsense_Mutation_p.Q512*|MGA_uc001zoi.2_Nonsense_Mutation_p.Q110*	p.Q1896*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	5867	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1857					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.5686C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445312	0.96187	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.72	5.72	0.89469	.	0.000000	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.1586	0.81681	0.0:0.8667:0.1333:0.0	.	.	.	.	X	1896;1857;1687	.	ENSP00000219905:Q1896X	Q	+	1	0	MGA	39828783	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.034000	0.57289	2.704000	0.92352	0.563000	0.77884	CAG		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	51	0	0	0	0.000602	0	5	51				
C2CD4A	145741	broad.mit.edu	37	15	62360140	62360140	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:62360140G>C	ENST00000355522.5	+	2	469	c.328G>C	c.(328-330)Gag>Cag	p.E110Q		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	110						nucleus (GO:0005634)											CGCGCTGCTCGAGAGCCCGCA	0.806																																							uc002ahf.3		NA																	0					0						c.(328-330)GAG>CAG		nuclear localized factor 1							4.0	5.0	4.0					15																	62360140		1868	3755	5623	SO:0001583	missense	145741					nucleus		g.chr15:62360140G>C	AF504646	CCDS32258.1	15q22.2	2009-09-28	2009-09-28	2009-09-28		ENSG00000198535			33627	protein-coding gene	gene with protein product	"""nuclear localized factor 1"""	610343	"""family with sequence similarity 148, member A"""	FAM148A			Standard	NM_207322		Approved	NLF1	uc002ahf.4	Q8NCU7		ENST00000355522.5:c.328G>C	15.37:g.62360140G>C	ENSP00000347712:p.Glu110Gln						p.E110Q	NM_207322	NP_997205	Q8NCU7	C2C4A_HUMAN			2	469	+			110						Missense_Mutation	SNP	ENST00000355522.5	37	c.328G>C	CCDS32258.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877859	0.91664	.	.	ENSG00000198535	ENST00000355522	T	0.53640	0.61	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.80508	2.5	0.49299	D	0.999775	D	0.89917	1.0	D	0.97110	1.0	T	0.75178	-0.3409	10	0.66056	D	0.02	.	15.2072	0.73190	0.0:0.0:1.0:0.0	.	110	Q8NCU7	C2C4A_HUMAN	Q	110	ENSP00000347712:E110Q	ENSP00000347712:E110Q	E	+	1	0	C2CD4A	60147432	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.545000	0.73883	2.156000	0.67533	0.563000	0.77884	GAG		0.806	C2CD4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416008.2	NM_207322		2	9	0	0	0	0.004672	0	2	9				
DIS3L	115752	broad.mit.edu	37	15	66621441	66621441	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:66621441G>A	ENST00000319212.4	+	13	2385	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K	DIS3L_ENST00000319194.5_Missense_Mutation_p.E696K|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	779					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCCTGTGCGGAGGAGGAGTT	0.468																																							uc010ujm.1		NA																	0				ovary(2)	2						c.(2335-2337)GAG>AAG		DIS3 mitotic control homolog (S.							73.0	72.0	73.0					15																	66621441		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66621441G>A		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2335G>A	15.37:g.66621441G>A	ENSP00000321711:p.Glu779Lys					DIS3L_uc002app.2_Missense_Mutation_p.E696K|DIS3L_uc010bho.2_Missense_Mutation_p.E645K	p.E779K	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			13	2350	+			779					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.2335G>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228159	0.58777	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.42513	0.97;0.97	5.76	5.76	0.90799	Ribonuclease II/R (2);	0.146505	0.64402	D	0.000011	T	0.36717	0.0977	L	0.45352	1.415	0.80722	D	1	P	0.38223	0.623	B	0.38225	0.268	T	0.13415	-1.0510	10	0.06625	T	0.88	-9.0613	18.9612	0.92678	0.0:0.0:1.0:0.0	.	779	Q8TF46	DI3L1_HUMAN	K	696;779	ENSP00000321583:E696K;ENSP00000321711:E779K	ENSP00000321583:E696K	E	+	1	0	DIS3L	64408495	1.000000	0.71417	0.930000	0.37139	0.090000	0.18270	4.100000	0.57762	2.715000	0.92844	0.563000	0.77884	GAG		0.468	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		5	61	0	0	0	0.000602	0	5	61				
LOXL1	4016	broad.mit.edu	37	15	74219600	74219600	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:74219600C>G	ENST00000261921.7	+	1	802	c.476C>G	c.(475-477)tCg>tGg	p.S159W	LOXL1-AS1_ENST00000567644.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000568229.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562130.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	159					extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCTCGGTCTCGGCTTCGGCC	0.711																																							uc002awc.1		NA																	0					0						c.(475-477)TCG>TGG		lysyl oxidase-like 1 preproprotein							23.0	30.0	27.0					15																	74219600		2176	4250	6426	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74219600C>G	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.476C>G	15.37:g.74219600C>G	ENSP00000261921:p.Ser159Trp					uc002awa.1_Intron|uc002awb.1_Intron	p.S159W	NM_005576	NP_005567	Q08397	LOXL1_HUMAN			1	812	+			159					Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.476C>G	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474045	0.63737	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.34275	1.37	4.1	4.1	0.47936	.	0.567321	0.14235	U	0.332445	T	0.49167	0.1541	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.42816	-0.9429	10	0.56958	D	0.05	.	9.3053	0.37872	0.2149:0.7851:0.0:0.0	.	159	Q08397	LOXL1_HUMAN	W	159;21	ENSP00000261921:S159W	ENSP00000261921:S159W	S	+	2	0	LOXL1	72006653	1.000000	0.71417	0.953000	0.39169	0.892000	0.51952	4.583000	0.60964	1.818000	0.53035	0.448000	0.29417	TCG		0.711	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		7	76	0	0	0	0.00308	0	7	76				
FSD2	123722	broad.mit.edu	37	15	83456108	83456108	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:83456108T>G	ENST00000334574.8	-	2	216	c.35A>C	c.(34-36)gAc>gCc	p.D12A	FSD2_ENST00000541889.1_Missense_Mutation_p.D12A			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	12										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGTAGACCTGTCCAGCCCCAG	0.468																																							uc002bjd.2		NA																	0				central_nervous_system(1)	1						c.(34-36)GAC>GCC		fibronectin type III and SPRY domain containing							87.0	86.0	86.0					15																	83456108		1911	4117	6028	SO:0001583	missense	123722							g.chr15:83456108T>G	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.35A>C	15.37:g.83456108T>G	ENSP00000335651:p.Asp12Ala					FSD2_uc010uol.1_Missense_Mutation_p.D12A|FSD2_uc010uom.1_Missense_Mutation_p.D12A	p.D12A	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			2	202	-			12					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.35A>C	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.906293	0.33628	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.41065	1.01;1.01	4.44	-4.63	0.03359	.	0.762069	0.11193	N	0.589695	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.12156	0.001;0.007	T	0.14227	-1.0480	10	0.44086	T	0.13	-1.747	7.4789	0.27393	0.0:0.4893:0.1352:0.3755	.	12;12	B7ZM02;A1L4K1	.;FSD2_HUMAN	A	12	ENSP00000335651:D12A;ENSP00000444078:D12A	ENSP00000335651:D12A	D	-	2	0	FSD2	81253162	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.239000	0.08965	-1.012000	0.03387	0.533000	0.62120	GAC		0.468	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		6	64	0	0	0	0.001168	0	6	64				
ZNF592	9640	broad.mit.edu	37	15	85345225	85345225	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr15:85345225G>A	ENST00000560079.2	+	11	3693	c.3405G>A	c.(3403-3405)tcG>tcA	p.S1135S	ZNF592_ENST00000299927.3_Silent_p.S1135S	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1135					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACAGACTCGGGGCTCGAGT	0.562																																							uc002bld.2		NA																	0				ovary(4)|skin(2)	6						c.(3403-3405)TCG>TCA		zinc finger protein 592							71.0	63.0	65.0					15																	85345225		2203	4299	6502	SO:0001819	synonymous_variant	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85345225G>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3405G>A	15.37:g.85345225G>A						ZNF592_uc010upb.1_RNA	p.S1135S	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		11	3741	+			1135			C2H2-type 12; atypical.		Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	c.3405G>A	CCDS32317.1																																																																																				0.562	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		5	43	0	0	0	0.000602	0	5	43				
SOX8	30812	broad.mit.edu	37	16	1034985	1034985	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:1034985C>A	ENST00000293894.3	+	3	1055	c.940C>A	c.(940-942)Ccc>Acc	p.P314T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	314					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGGGGCGTCCCCCGTGTGGGC	0.756																																							uc002ckn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(940-942)CCC>ACC		SRY (sex determining region Y)-box 8							7.0	9.0	8.0					16																	1034985		2094	4109	6203	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034985C>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.940C>A	16.37:g.1034985C>A	ENSP00000293894:p.Pro314Thr						p.P314T	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	1055	+		Hepatocellular(780;0.00308)	314					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.940C>A	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	C	7.459	0.644279	0.14451	.	.	ENSG00000005513	ENST00000293894	T	0.79653	-1.29	4.31	4.31	0.51392	.	0.391620	0.27966	N	0.017122	T	0.72851	0.3512	L	0.58101	1.795	0.27553	N	0.950435	B	0.18610	0.029	B	0.14023	0.01	T	0.57057	-0.7876	10	0.08179	T	0.78	.	11.6246	0.51138	0.0:0.9102:0.0:0.0898	.	314	P57073	SOX8_HUMAN	T	314	ENSP00000293894:P314T	ENSP00000293894:P314T	P	+	1	0	SOX8	974986	0.003000	0.15002	0.931000	0.37212	0.639000	0.38242	1.424000	0.34848	2.246000	0.74042	0.650000	0.86243	CCC		0.756	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			5	11	1	0	1.23904e-05	0.000602	1.49685e-05	5	11				
ADCY9	115	broad.mit.edu	37	16	4164189	4164189	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:4164189G>A	ENST00000294016.3	-	2	1793	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	419	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGATCGTTCAGGAGACCCACC	0.532																																							uc002cvx.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1255-1257)CTG>TTG		adenylate cyclase 9							62.0	65.0	64.0					16																	4164189		2197	4300	6497	SO:0001819	synonymous_variant	115				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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164189G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1255C>T	16.37:g.4164189G>A							p.L419L	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	1794	-			419			Cytoplasmic (Potential).|Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.1255C>T	CCDS32382.1																																																																																				0.532	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			10	65	0	0	0	0.006214	0	10	65				
SEC14L5	9717	broad.mit.edu	37	16	5038216	5038216	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:5038216C>G	ENST00000251170.7	+	4	460	c.280C>G	c.(280-282)Ctc>Gtc	p.L94V		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	94	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAGGACGCTCCTCATCGAAGC	0.632																																							uc002cye.2		NA																	0					0						c.(280-282)CTC>GTC		SEC14-like 5							52.0	56.0	55.0					16																	5038216		2175	4265	6440	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5038216C>G	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.280C>G	16.37:g.5038216C>G	ENSP00000251170:p.Leu94Val						p.L94V	NM_014692	NP_055507	O43304	S14L5_HUMAN			4	460	+			94			PRELI/MSF1.			Missense_Mutation	SNP	ENST00000251170.7	37	c.280C>G	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	7.394	0.631397	0.14322	.	.	ENSG00000103184	ENST00000251170	T	0.16196	2.36	4.34	1.12	0.20585	PRELI/MSF1 (2);	0.658399	0.13678	N	0.370397	T	0.10551	0.0258	L	0.27053	0.805	0.23371	N	0.997814	B	0.16802	0.019	B	0.16722	0.016	T	0.34576	-0.9823	10	0.23302	T	0.38	-17.9114	7.6416	0.28296	0.0:0.7104:0.134:0.1556	.	94	O43304	S14L5_HUMAN	V	94	ENSP00000251170:L94V	ENSP00000251170:L94V	L	+	1	0	SEC14L5	4978217	0.911000	0.30947	0.004000	0.12327	0.307000	0.27823	3.518000	0.53451	0.449000	0.26747	0.491000	0.48974	CTC		0.632	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			5	38	0	0	0	0.000602	0	5	38				
ABCC6	368	broad.mit.edu	37	16	16302622	16302622	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:16302622C>G	ENST00000205557.7	-	7	786	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	253					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CACTCCTTTTCAAGCCGGGAA	0.542																																							uc002den.3		NA																	0				skin(2)|ovary(1)	3						c.(757-759)GAA>CAA		ATP-binding cassette, sub-family C, member 6							66.0	61.0	63.0					16																	16302622		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16302622C>G	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.757G>C	16.37:g.16302622C>G	ENSP00000205557:p.Glu253Gln					ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.E265Q	p.E253Q	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	7	794	-			253			Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.757G>C	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	0.133	-1.111424	0.01813	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.94576	-3.46;-3.46	4.09	3.12	0.35913	.	0.000000	0.49916	U	0.000135	D	0.87063	0.6084	L	0.33339	1.005	0.22468	N	0.999075	P;P	0.38395	0.514;0.629	B;B	0.34652	0.187;0.099	T	0.76506	-0.2934	10	0.17832	T	0.49	.	5.8593	0.18736	0.0:0.6922:0.1992:0.1087	.	265;253	F5GWQ0;O95255	.;MRP6_HUMAN	Q	253;253;265	ENSP00000205557:E253Q;ENSP00000405002:E253Q	ENSP00000205557:E253Q	E	-	1	0	ABCC6	16210123	0.809000	0.29036	0.047000	0.18901	0.045000	0.14185	1.677000	0.37576	0.710000	0.31997	0.479000	0.44913	GAA		0.542	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			9	85	0	0	0	0.004482	0	9	85				
KCTD19	146212	broad.mit.edu	37	16	67325290	67325290	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:67325290G>T	ENST00000304372.5	-	14	2542	c.2487C>A	c.(2485-2487)gaC>gaA	p.D829E		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	829					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCATGATGATGTCAGCCAGGA	0.517																																							uc002esu.2		NA																	0				skin(1)	1						c.(2485-2487)GAC>GAA		potassium channel tetramerisation domain							88.0	86.0	86.0					16																	67325290		2007	4191	6198	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325290G>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2487C>A	16.37:g.67325290G>T	ENSP00000305702:p.Asp829Glu					KCTD19_uc002est.2_Missense_Mutation_p.D601E|KCTD19_uc010vjj.1_Missense_Mutation_p.D572E	p.D829E	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	14	2538	-		Ovarian(137;0.192)	829					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2487C>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639386	0.67244	.	.	ENSG00000168676	ENST00000304372	T	0.65178	-0.14	5.8	3.85	0.44370	.	0.000000	0.64402	D	0.000019	T	0.63558	0.2521	N	0.24115	0.695	0.28817	N	0.897917	D	0.76494	0.999	D	0.78314	0.991	T	0.58446	-0.7635	10	0.87932	D	0	-21.1084	7.962	0.30076	0.2496:0.0:0.7504:0.0	.	829	Q17RG1	KCD19_HUMAN	E	829	ENSP00000305702:D829E	ENSP00000305702:D829E	D	-	3	2	KCTD19	65882791	0.999000	0.42202	0.996000	0.52242	0.793000	0.44817	0.830000	0.27462	0.809000	0.34255	0.455000	0.32223	GAC		0.517	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		4	47	1	0	0.000602214	0.000602	0.000673165	4	47				
GAN	8139	broad.mit.edu	37	16	81399073	81399073	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:81399073G>A	ENST00000568107.2	+	9	1654	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	498					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CTACCATGATGAGTTTAAAAG	0.428																																					GBM(106;1239 1507 7582 9741 33976)	GBM(106;1239 1507 7582 9741 33976)	uc002fgo.2		NA																	0				ovary(2)	2						c.(1492-1494)GAG>AAG		gigaxonin							194.0	176.0	182.0					16																	81399073		2201	4300	6501	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81399073G>A	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1492G>A	16.37:g.81399073G>A	ENSP00000476795:p.Glu498Lys						p.E498K	NM_022041	NP_071324	Q9H2C0	GAN_HUMAN			9	1640	+		Colorectal(91;0.153)	498			Kelch 5.			Missense_Mutation	SNP	ENST00000568107.2	37	c.1492G>A	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098853	0.37048	.	.	ENSG00000127688	ENST00000248272	T	0.67171	-0.25	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	0.095113	0.64402	D	0.000001	T	0.49712	0.1573	N	0.14661	0.345	0.58432	D	0.999997	B	0.23316	0.083	B	0.22601	0.04	T	0.49615	-0.8921	10	0.05959	T	0.93	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	498	Q9H2C0	GAN_HUMAN	K	498	ENSP00000248272:E498K	ENSP00000248272:E498K	E	+	1	0	GAN	79956574	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	7.528000	0.81941	2.840000	0.97914	0.655000	0.94253	GAG		0.428	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			9	86	0	0	0	0.004482	0	9	86				
OSGIN1	29948	broad.mit.edu	37	16	83999139	83999139	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr16:83999139G>C	ENST00000343939.2	+	7	1593	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	OSGIN1_ENST00000361711.3_Missense_Mutation_p.D321H|OSGIN1_ENST00000393306.1_Missense_Mutation_p.D321H			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	404					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGCCGTGGACGACCCTGGCCT	0.652																																							uc002fha.2		NA																	0					0						c.(1210-1212)GAC>CAC		oxidative stress induced growth inhibitor 1							48.0	45.0	46.0					16																	83999139		2199	4299	6498	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999139G>C	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1210G>C	16.37:g.83999139G>C	ENSP00000343376:p.Asp404His					OSGIN1_uc002fhb.2_Missense_Mutation_p.D321H|OSGIN1_uc002fhc.2_Missense_Mutation_p.D321H	p.D404H	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			7	1593	+			404					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.1210G>C		.	.	.	.	.	.	.	.	.	.	G	22.8	4.331491	0.81690	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.63255	-0.03;-0.03;-0.03	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83865	0.0270	10	0.87932	D	0	-48.3103	16.8408	0.85968	0.0:0.0:1.0:0.0	.	404	Q9UJX0	OSGI1_HUMAN	H	404;321;321	ENSP00000343376:D404H;ENSP00000355374:D321H;ENSP00000376983:D321H	ENSP00000343376:D404H	D	+	1	0	OSGIN1	82556640	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	6.631000	0.74277	2.211000	0.71520	0.467000	0.42956	GAC		0.652	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		4	46	0	0	0	0.009096	0	4	46				
TP53	7157	broad.mit.edu	37	17	7573991	7573991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:7573991C>A	ENST00000269305.4	-	10	1225	c.1036G>T	c.(1036-1038)Gag>Tag	p.E346*	TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E346*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	346	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> A (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCAAGGCCTCATTCAGCTCT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		15	Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Nonsense(2)|Unknown(1)	p.0?(7)|p.L344fs*23(2)|p.L344fs*22(1)|p.E346A(1)|p.?(1)|p.E346*(1)|p.I332fs*5(1)	bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|adrenal_gland(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|lung(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(1036-1038)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							64.0	49.0	54.0					17																	7573991		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573991C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1036G>T	17.37:g.7573991C>A	ENSP00000269305:p.Glu346*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E214*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E346*	p.E346*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1230	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	346		E -> A (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1036G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	39	7.391846	0.98255	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	5.43	0.79202	.	0.109289	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.7673	16.7337	0.85442	0.0:1.0:0.0:0.0	.	.	.	.	X	346;346;335	.	ENSP00000269305:E346X	E	-	1	0	TP53	7514716	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	4.782000	0.62396	2.549000	0.85964	0.561000	0.74099	GAG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	49	1	0	1.58986e-06	0.008291	1.96961e-06	9	49				
MYH1	4619	broad.mit.edu	37	17	10419566	10419566	+	Missense_Mutation	SNP	G	G	A	rs201260086		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:10419566G>A	ENST00000226207.5	-	4	392	c.298C>T	c.(298-300)Cct>Tct	p.P100S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	100	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCACAGCAGGCTCGTGTAGA	0.463																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(298-300)CCT>TCT		myosin, heavy chain 1, skeletal muscle, adult							274.0	241.0	252.0					17																	10419566		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419566G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.298C>T	17.37:g.10419566G>A	ENSP00000226207:p.Pro100Ser					uc002gml.1_Intron	p.P100S	NM_005963	NP_005954	P12882	MYH1_HUMAN			4	392	-			100			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.298C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785250	0.70337	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.71817	-0.6	5.39	5.39	0.77823	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000624	T	0.78400	0.4277	M	0.79614	2.46	0.58432	D	0.999998	B	0.22983	0.078	B	0.36567	0.228	T	0.76748	-0.2845	10	0.62326	D	0.03	.	19.3405	0.94339	0.0:0.0:1.0:0.0	.	100	P12882	MYH1_HUMAN	S	100	ENSP00000226207:P100S	ENSP00000226207:P100S	P	-	1	0	MYH1	10360291	1.000000	0.71417	0.995000	0.50966	0.241000	0.25554	5.432000	0.66514	2.791000	0.96007	0.655000	0.94253	CCT		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		17	110	0	0	0	0.00499	0	17	110				
ATAD5	79915	broad.mit.edu	37	17	29205039	29205039	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:29205039G>A	ENST00000321990.4	+	17	4315	c.3937G>A	c.(3937-3939)Gaa>Aaa	p.E1313K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1313					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATTTTTGATGAAGATGCTGG	0.284																																							uc002hfs.1		NA																	0				ovary(3)	3						c.(3937-3939)GAA>AAA		ATPase family, AAA domain containing 5							101.0	111.0	108.0					17																	29205039		2203	4299	6502	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29205039G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3937G>A	17.37:g.29205039G>A	ENSP00000313171:p.Glu1313Lys						p.E1313K	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			17	4283	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1313					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3937G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035322	0.93630	.	.	ENSG00000176208	ENST00000321990	T	0.17370	2.28	5.0	5.0	0.66597	ATPase, AAA+ type, core (1);	0.106561	0.64402	D	0.000005	T	0.50017	0.1591	M	0.88105	2.93	0.50039	D	0.999843	D	0.89917	1.0	D	0.74023	0.982	T	0.60934	-0.7164	10	0.72032	D	0.01	.	18.3397	0.90300	0.0:0.0:1.0:0.0	.	1313	Q96QE3	ATAD5_HUMAN	K	1313	ENSP00000313171:E1313K	ENSP00000313171:E1313K	E	+	1	0	ATAD5	26229165	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.941000	0.92964	2.320000	0.78422	0.485000	0.47835	GAA		0.284	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		7	84	0	0	0	0.001984	0	7	84				
C17orf50	146853	broad.mit.edu	37	17	34091593	34091593	+	Missense_Mutation	SNP	G	G	A	rs371809143		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:34091593G>A	ENST00000285023.4	+	3	513	c.481G>A	c.(481-483)Gat>Aat	p.D161N	C17orf50_ENST00000588628.1_Missense_Mutation_p.G168E|C17orf50_ENST00000586491.1_Missense_Mutation_p.G131E	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	161													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCGTTCTGGATCACCCGGA	0.662																																							uc002hjx.2		NA																	0					0						c.(481-483)GAT>AAT		hypothetical protein LOC146853							13.0	16.0	15.0					17																	34091593		1959	4140	6099	SO:0001583	missense	146853							g.chr17:34091593G>A	BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389	ENST00000285023.4:c.481G>A	17.37:g.34091593G>A	ENSP00000285023:p.Asp161Asn					MMP28_uc002hjw.1_Intron	p.D161N	NM_145272	NP_660315	Q8WW18	CQ050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	526	+		Ovarian(249;0.17)	161					Q6Q621	Missense_Mutation	SNP	ENST00000285023.4	37	c.481G>A	CCDS42298.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810552	0.70797	.	.	ENSG00000154768	ENST00000285023	T	0.48522	0.81	4.85	4.85	0.62838	.	0.406919	0.20073	N	0.099825	T	0.36690	0.0976	N	0.19112	0.55	0.25938	N	0.982909	P	0.36535	0.557	B	0.39258	0.295	T	0.38156	-0.9674	10	0.59425	D	0.04	-15.1796	13.3166	0.60411	0.0:0.0:1.0:0.0	.	161	Q8WW18	CQ050_HUMAN	N	161	ENSP00000285023:D161N	ENSP00000285023:D161N	D	+	1	0	C17orf50	31115706	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.058000	0.49939	2.491000	0.84063	0.650000	0.86243	GAT		0.662	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1	NM_145272		12	23	0	0	0	0.003163	0	12	23				
CCL16	6360	broad.mit.edu	37	17	34304721	34304721	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:34304721C>T	ENST00000293275.3	-	3	319	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	82					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACCCAGTCGTCATTGGGG	0.522																																							uc002hkl.2		NA																	0					0						c.(244-246)GAC>AAC		small inducible cytokine A16 precursor							217.0	193.0	201.0					17																	34304721		2203	4300	6503	SO:0001583	missense	6360				cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity	g.chr17:34304721C>T	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"""Chemokine ligands"", ""Endogenous ligands"""	10614	protein-coding gene	gene with protein product		601394	"""small inducible cytokine subfamily A (Cys-Cys), member 16"""	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.244G>A	17.37:g.34304721C>T	ENSP00000293275:p.Asp82Asn					CCL16_uc002hkm.2_RNA	p.D82N	NM_004590	NP_004581	O15467	CCL16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	311	-		Ovarian(249;0.17)	82					Q4KKU0	Missense_Mutation	SNP	ENST00000293275.3	37	c.244G>A	CCDS11303.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869150	0.51588	.	.	ENSG00000161573	ENST00000293275	T	0.04603	3.59	5.17	-5.31	0.02730	Chemokine interleukin-8-like domain (3);	2.257600	0.02037	N	0.049004	T	0.05960	0.0155	L	0.37750	1.13	0.09310	N	1	P	0.42973	0.796	B	0.41666	0.363	T	0.39165	-0.9627	10	0.52906	T	0.07	.	10.9745	0.47459	0.0:0.722:0.1284:0.1496	.	82	O15467	CCL16_HUMAN	N	82	ENSP00000293275:D82N	ENSP00000293275:D82N	D	-	1	0	CCL16	31328834	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-2.487000	0.00977	-1.032000	0.03304	0.561000	0.74099	GAC		0.522	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	NM_004590		8	110	0	0	0	0.004482	0	8	110				
TNS4	84951	broad.mit.edu	37	17	38643291	38643291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:38643291C>A	ENST00000254051.6	-	4	1443	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	429					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GACGTACCCTCTGGGCATGTG	0.512																																							uc010cxb.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1285-1287)GAG>TAG		tensin 4 precursor							272.0	291.0	284.0					17																	38643291		2203	4300	6503	SO:0001587	stop_gained	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38643291C>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1285G>T	17.37:g.38643291C>A	ENSP00000254051:p.Glu429*						p.E429*	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		4	1449	-		Breast(137;0.000496)	429					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Nonsense_Mutation	SNP	ENST00000254051.6	37	c.1285G>T	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	C	36	5.966121	0.97156	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	.	.	.	5.24	4.26	0.50523	.	1.031350	0.07725	N	0.944295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.0748	0.59081	0.0:0.8383:0.1617:0.0	.	.	.	.	X	429	.	ENSP00000254051:E429X	E	-	1	0	TNS4	35896817	0.670000	0.27512	0.177000	0.23020	0.209000	0.24338	2.235000	0.43044	1.195000	0.43115	0.655000	0.94253	GAG		0.512	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		23	347	1	0	2.39556e-15	0.00278	3.32812e-15	23	347				
DBF4B	80174	broad.mit.edu	37	17	42818707	42818707	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:42818707G>C	ENST00000315005.3	+	10	855	c.717G>C	c.(715-717)aaG>aaC	p.K239N	DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.K239N	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	239					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTTGCAGGAAGTTTCGTCCTT	0.493																																							uc002ihf.2		NA																	0					0						c.(715-717)AAG>AAC		DBF4 homolog B isoform 1							153.0	150.0	151.0					17																	42818707		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42818707G>C	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.717G>C	17.37:g.42818707G>C	ENSP00000323663:p.Lys239Asn					DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Missense_Mutation_p.K53N|DBF4B_uc010wjc.1_Missense_Mutation_p.K223N	p.K239N	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			10	930	+		Prostate(33;0.0322)	239					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.717G>C	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849450	0.51270	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	T;T	0.12361	2.69;2.69	5.58	2.18	0.27775	.	0.275715	0.29908	N	0.010895	T	0.21186	0.0510	L	0.49350	1.555	0.80722	D	1	D;D;D	0.76494	0.977;0.994;0.999	P;P;D	0.74023	0.787;0.864;0.982	T	0.17228	-1.0376	10	0.19147	T	0.46	-19.7962	4.0036	0.09590	0.214:0.1998:0.5861:0.0	.	239;239;53	Q8NFT6-2;Q8NFT6;Q8NFT6-3	.;DBF4B_HUMAN;.	N	239	ENSP00000377178:K239N;ENSP00000323663:K239N	ENSP00000323663:K239N	K	+	3	2	DBF4B	40174233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.356000	0.20181	1.358000	0.45922	0.655000	0.94253	AAG		0.493	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		9	94	0	0	0	0.010729	0	9	94				
SPATA32	124783	broad.mit.edu	37	17	43333147	43333147	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:43333147C>G	ENST00000331780.4	-	4	497	c.402G>C	c.(400-402)cgG>cgC	p.R134R	SPATA32_ENST00000543122.1_Silent_p.R113R|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	134					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											CCGTGAAACTCCGGCAGTTTG	0.567																																							uc002iis.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(400-402)CGG>CGC		hypothetical protein LOC124783							99.0	96.0	97.0					17																	43333147		2203	4300	6503	SO:0001819	synonymous_variant	124783							g.chr17:43333147C>G	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.402G>C	17.37:g.43333147C>G						LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.R113R	p.R134R	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			4	498	-			134					Q7Z4U1|Q8N6V6	Silent	SNP	ENST00000331780.4	37	c.402G>C	CCDS32669.1																																																																																				0.567	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		6	107	0	0	0	0.001168	0	6	107				
MBTD1	54799	broad.mit.edu	37	17	49280153	49280153	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:49280153A>G	ENST00000586178.1	-	10	1315	c.972T>C	c.(970-972)gaT>gaC	p.D324D	MBTD1_ENST00000415868.1_Silent_p.D324D|MBTD1_ENST00000376381.2_Silent_p.D324D	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	324					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CATCTGTTCTATCTTCGCTTT	0.423																																							uc002itr.3		NA																	0				ovary(2)	2						c.(970-972)GAT>GAC		mbt domain containing 1							355.0	310.0	326.0					17																	49280153		2203	4300	6503	SO:0001819	synonymous_variant	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49280153A>G	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.972T>C	17.37:g.49280153A>G						MBTD1_uc002itp.3_Silent_p.D160D|MBTD1_uc002itq.3_Silent_p.D324D	p.D324D	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		10	1316	-			324			MBT 2.		Q6ZVU7|Q9NXU1	Silent	SNP	ENST00000586178.1	37	c.972T>C	CCDS11581.2																																																																																				0.423	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			9	117	0	0	0	0.006214	0	9	117				
C17orf47	284083	broad.mit.edu	37	17	56621265	56621265	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:56621265C>G	ENST00000321691.3	-	1	464	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	95										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGGATGATTCTGTTCTTGGT	0.537																																							uc002iwq.1		NA																	0				breast(1)	1						c.(283-285)GAA>CAA		hypothetical protein LOC284083							141.0	129.0	133.0					17																	56621265		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56621265C>G		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.283G>C	17.37:g.56621265C>G	ENSP00000354874:p.Glu95Gln						p.E95Q	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			1	419	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		95					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.283G>C	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337836	0.95758	.	.	ENSG00000181013	ENST00000321691	T	0.44083	0.93	5.4	5.4	0.78164	.	0.310667	0.28146	N	0.016437	T	0.51227	0.1662	L	0.32530	0.975	0.09310	N	0.999997	D	0.67145	0.996	D	0.64877	0.93	T	0.43750	-0.9372	10	0.45353	T	0.12	-1.9189	15.0358	0.71744	0.0:1.0:0.0:0.0	.	95	Q8NEP4	CQ047_HUMAN	Q	95	ENSP00000354874:E95Q	ENSP00000354874:E95Q	E	-	1	0	C17orf47	53976264	0.394000	0.25246	0.120000	0.21714	0.818000	0.46254	2.012000	0.40932	2.705000	0.92388	0.655000	0.94253	GAA		0.537	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		5	55	0	0	0	0.000602	0	5	55				
HELZ	9931	broad.mit.edu	37	17	65103325	65103325	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:65103325G>C	ENST00000358691.5	-	31	5367	c.5201C>G	c.(5200-5202)tCt>tGt	p.S1734C	HELZ_ENST00000580168.1_Missense_Mutation_p.S1735C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1734						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACTGTTCGAGATGACAATGG	0.398																																							uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(5203-5205)TCT>TGT		helicase with zinc finger domain							175.0	176.0	176.0					17																	65103325		1955	4149	6104	SO:0001583	missense	9931							g.chr17:65103325G>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5201C>G	17.37:g.65103325G>C	ENSP00000351524:p.Ser1734Cys					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.S1734C	p.S1735C	NM_014877	NP_055692					31	5391	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5204C>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973153	0.34848	.	.	ENSG00000198265	ENST00000358691	D	0.85411	-1.98	5.09	5.09	0.68999	.	0.130004	0.53938	D	0.000053	D	0.82370	0.5022	L	0.29908	0.895	0.45307	D	0.998309	B;B	0.32918	0.39;0.39	B;B	0.38954	0.286;0.286	D	0.83408	0.0026	10	0.72032	D	0.01	-11.9433	18.5132	0.90925	0.0:0.0:1.0:0.0	.	1735;1734	B7ZLW2;P42694	.;HELZ_HUMAN	C	1734	ENSP00000351524:S1734C	ENSP00000351524:S1734C	S	-	2	0	HELZ	62533787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.248000	0.78268	2.352000	0.79861	0.573000	0.79308	TCT		0.398	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		7	147	0	0	0	0.001984	0	7	147				
SDK2	54549	broad.mit.edu	37	17	71427671	71427671	+	Missense_Mutation	SNP	C	C	T	rs199755742		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:71427671C>T	ENST00000392650.3	-	11	1450	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	SDK2_ENST00000388726.3_Missense_Mutation_p.D484N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	484	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGGCCTCATCGACCCCCCGA	0.597																																							uc010dfm.2		NA																	0				ovary(2)	2						c.(1450-1452)GAT>AAT		sidekick 2							160.0	155.0	157.0					17																	71427671		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71427671C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1450G>A	17.37:g.71427671C>T	ENSP00000376421:p.Asp484Asn					SDK2_uc010dfn.2_Missense_Mutation_p.D163N	p.D484N	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			11	1450	-			484			Ig-like C2-type 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.1450G>A	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.965669|3.965669	0.74131|0.74131	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.67698|.	-0.28;-0.28|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.122578|.	0.53938|.	D|.	0.000055|.	T|T	0.59905|0.59905	0.2228|0.2228	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	P;P|.	0.50156|.	0.932;0.657|.	B;B|.	0.41571|.	0.36;0.267|.	T|T	0.56238|0.56238	-0.8012|-0.8012	10|5	0.17832|.	T|.	0.49|.	.|.	17.729|17.729	0.88372|0.88372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	484;484|.	Q58EX2-2;Q58EX2|.	.;SDK2_HUMAN|.	N|Q	108;484;484;484|388	ENSP00000376421:D484N;ENSP00000373378:D484N|.	ENSP00000324967:D484N|.	D|R	-|-	1|2	0|0	SDK2|SDK2	68939266|68939266	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.801000|0.801000	0.45260|0.45260	4.318000|4.318000	0.59190|0.59190	2.269000|2.269000	0.75478|0.75478	0.467000|0.467000	0.42956|0.42956	GAT|CGA		0.597	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		19	172	0	0	0	0.010504	0	19	172				
KIF19	124602	broad.mit.edu	37	17	72350304	72350304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:72350304G>A	ENST00000389916.4	+	18	2450	c.2312G>A	c.(2311-2313)aGg>aAg	p.R771K	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	771					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCTGCAGAGAGGAAGGAGATC	0.662																																							uc002jkm.3		NA																	0					0						c.(2311-2313)AGG>AAG		kinesin family member 19							61.0	72.0	68.0					17																	72350304		2048	4179	6227	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72350304G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2312G>A	17.37:g.72350304G>A	ENSP00000374566:p.Arg771Lys						p.R771K	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			18	2450	+			771					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2312G>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831828	0.32421	.	.	ENSG00000196169	ENST00000389916	T	0.71222	-0.55	5.25	0.97	0.19692	.	.	.	.	.	T	0.52125	0.1715	L	0.34521	1.04	0.25459	N	0.987938	B	0.06786	0.001	B	0.01281	0.0	T	0.33240	-0.9876	9	0.06494	T	0.89	.	8.6657	0.34118	0.3763:0.0:0.6237:0.0	.	771	Q2TAC6	KIF19_HUMAN	K	771	ENSP00000374566:R771K	ENSP00000374566:R771K	R	+	2	0	KIF19	69861899	0.782000	0.28689	0.896000	0.35187	0.915000	0.54546	0.763000	0.26517	0.237000	0.21200	0.556000	0.70494	AGG		0.662	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		5	84	0	0	0	0.000602	0	5	84				
BAHCC1	57597	broad.mit.edu	37	17	79410070	79410070	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:79410070G>C	ENST00000307745.7	+	9	1695	c.1695G>C	c.(1693-1695)aaG>aaC	p.K565N																								CTGAGGCCAAGCGCAAGTCCC	0.716																																							uc002kaf.2		NA																	0				ovary(1)	1						c.(1693-1695)AAG>AAC		BAH domain and coiled-coil containing 1							22.0	29.0	27.0					17																	79410070		2030	4155	6185	SO:0001583	missense	57597						DNA binding	g.chr17:79410070G>C																												ENST00000307745.7:c.1695G>C	17.37:g.79410070G>C	ENSP00000303486:p.Lys565Asn					BAHCC1_uc002kae.2_5'Flank	p.K565N	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		3	1695	+	all_neural(118;0.0804)|Melanoma(429;0.242)		565						Missense_Mutation	SNP	ENST00000307745.7	37	c.1695G>C		.	.	.	.	.	.	.	.	.	.	g	15.09	2.729088	0.48833	.	.	ENSG00000171282	ENST00000307745	T	0.15139	2.45	4.21	3.22	0.36961	.	.	.	.	.	T	0.13841	0.0335	L	0.32530	0.975	0.26917	N	0.966767	P	0.38922	0.651	B	0.38428	0.273	T	0.11842	-1.0571	9	0.72032	D	0.01	.	8.0966	0.30833	0.1936:0.0:0.8064:0.0	.	565	Q9P281	BAHC1_HUMAN	N	565	ENSP00000303486:K565N	ENSP00000303486:K565N	K	+	3	2	AC110285.1	77024665	1.000000	0.71417	0.995000	0.50966	0.788000	0.44548	3.103000	0.50298	0.958000	0.37956	0.457000	0.33378	AAG		0.716	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	42	0	0	0	0.009096	0	4	42				
SIRT7	51547	broad.mit.edu	37	17	79875977	79875977	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr17:79875977G>A	ENST00000328666.6	-	1	93	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	11	Arg-rich.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCGCTTTGCGCTCGGAGCGG	0.756																																							uc002kcj.1		NA																	0					0						c.(31-33)CGC>TGC		sirtuin 7							11.0	14.0	13.0					17																	79875977		1600	3437	5037	SO:0001583	missense	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79875977G>A	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.31C>T	17.37:g.79875977G>A	ENSP00000329466:p.Arg11Cys					SIRT7_uc002kck.1_5'UTR|SIRT7_uc002kcl.1_5'UTR	p.R11C	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		1	64	-	all_neural(118;0.0878)|Ovarian(332;0.12)		11			Arg-rich.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	c.31C>T	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641873	0.47153	.	.	ENSG00000187531	ENST00000328666	T	0.39592	1.07	3.51	2.46	0.29980	.	0.329000	0.25820	N	0.028081	T	0.52549	0.1741	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54146	-0.8337	10	0.87932	D	0	-16.7609	7.5095	0.27564	0.0:0.181:0.6327:0.1863	.	11	Q9NRC8	SIRT7_HUMAN	C	11	ENSP00000329466:R11C	ENSP00000329466:R11C	R	-	1	0	SIRT7	77469269	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	2.302000	0.43637	1.795000	0.52594	0.430000	0.28490	CGC		0.756	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		5	39	0	0	0	0.001984	0	5	39				
ZNF521	25925	broad.mit.edu	37	18	22804498	22804498	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr18:22804498C>T	ENST00000361524.3	-	4	3532	c.3384G>A	c.(3382-3384)gaG>gaA	p.E1128E	ZNF521_ENST00000538137.2_Silent_p.E1128E|ZNF521_ENST00000584787.1_Silent_p.E908E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1128					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCCTTTCCCCTCAATGGCAC	0.542			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(3382-3384)GAG>GAA		zinc finger protein 521							139.0	122.0	128.0					18																	22804498		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804498C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3384G>A	18.37:g.22804498C>T						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.E1128E|ZNF521_uc002kvl.2_Silent_p.E908E	p.E1128E	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3631	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1128					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.3384G>A	CCDS32806.1																																																																																				0.542	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		9	51	0	0	0	0.004482	0	9	51				
CCBE1	147372	broad.mit.edu	37	18	57103325	57103325	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr18:57103325G>T	ENST00000439986.4	-	11	1073	c.1036C>A	c.(1036-1038)Cgc>Agc	p.R346S	CCBE1_ENST00000398179.2_Missense_Mutation_p.R75S	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	346					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.R346C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATGTCATTGCGGATGTCAGCC	0.522																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1036-1038)CGC>AGC		collagen and calcium binding EGF domains 1							122.0	127.0	126.0					18																	57103325		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57103325G>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.1036C>A	18.37:g.57103325G>T	ENSP00000404464:p.Arg346Ser					CCBE1_uc010dpq.2_Missense_Mutation_p.R75S|CCBE1_uc002lia.2_Missense_Mutation_p.R199S	p.R346S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			11	1106	-		Colorectal(73;0.175)	346					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.1036C>A	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452973	0.84209	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	D;D	0.94232	-3.38;-3.38	5.79	4.87	0.63330	.	0.096988	0.64402	D	0.000002	D	0.95598	0.8569	M	0.65498	2.005	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.998	D	0.95205	0.8320	10	0.72032	D	0.01	-29.0958	11.6681	0.51385	0.0:0.0:0.6816:0.3184	.	75;346;155	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	S	346;75	ENSP00000404464:R346S;ENSP00000381241:R75S	ENSP00000381241:R75S	R	-	1	0	CCBE1	55254305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.175000	0.58263	2.731000	0.93534	0.650000	0.86243	CGC		0.522	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		13	118	1	0	3.27435e-08	0.00245	4.21763e-08	13	118				
STK11	6794	broad.mit.edu	37	19	1218415	1218415	+	Splice_Site	SNP	G	G	T	rs112675807		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:1218415G>T	ENST00000326873.7	+	2	1463		c.e2-1		STK11_ENST00000585748.1_Splice_Site	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGTCCCAGGGAAATTCAA	0.522		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		24	Whole gene deletion(20)|Unknown(4)	p.0?(19)|p.?(3)	cervix(16)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CS004815|CS982372	STK11	S	rs112675807	c.e2-1		serine/threonine protein kinase 11							144.0	150.0	148.0					19																	1218415		2025	4175	6200	SO:0001630	splice_region_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1218415G>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.291-1G>T	19.37:g.1218415G>T		TSP Lung(3;<1E-08)					p.K97_splice	NM_000455	NP_000446	Q15831	STK11_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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1406	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)						B2RBX7|E7EW76	Splice_Site	SNP	ENST00000326873.7	37	c.291_splice	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635489	0.47049	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1716	0.72878	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK11	1169415	1.000000	0.71417	0.922000	0.36590	0.384000	0.30261	9.594000	0.98254	1.810000	0.52873	0.436000	0.28706	.		0.522	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	Intron	23	106	1	0	3.62473e-10	0.012319	4.79599e-10	23	106				
DAPK3	1613	broad.mit.edu	37	19	3964802	3964802	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:3964802C>T	ENST00000545797.2	-	3	493	c.250G>A	c.(250-252)Gag>Aag	p.E84K	DAPK3_ENST00000301264.3_Missense_Mutation_p.E84K			O43293	DAPK3_HUMAN	death-associated protein kinase 3	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTGTTCTCGAAGATGTCG	0.632																																							uc002lzc.1		NA																	0				central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(250-252)GAG>AAG		death-associated protein kinase 3							113.0	112.0	113.0					19																	3964802		2203	4300	6503	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964802C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.250G>A	19.37:g.3964802C>T	ENSP00000442973:p.Glu84Lys					DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Missense_Mutation_p.E84K	p.E84K	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	343	-		Hepatocellular(1079;0.137)	84			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.250G>A	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646243	0.96704	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.66460	-0.21;-0.21	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81597	0.4856	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.83180	-0.0089	10	0.87932	D	0	.	18.4942	0.90858	0.0:1.0:0.0:0.0	.	84	O43293	DAPK3_HUMAN	K	84	ENSP00000301264:E84K;ENSP00000442973:E84K	ENSP00000301264:E84K	E	-	1	0	DAPK3	3915802	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.618000	0.83043	2.604000	0.88044	0.561000	0.74099	GAG		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		14	86	0	0	0	0.001855	0	14	86				
CERS4	79603	broad.mit.edu	37	19	8326635	8326635	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:8326635C>G	ENST00000251363.5	+	11	1212	c.912C>G	c.(910-912)ttC>ttG	p.F304L	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.F304L|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000558331.1_Missense_Mutation_p.F253L	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	304	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCTACTACTTCTTCAACGGGC	0.552																																							uc002mjg.2		NA																	0				ovary(1)	1						c.(910-912)TTC>TTG		LAG1 homolog, ceramide synthase 4							101.0	85.0	91.0					19																	8326635		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8326635C>G		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.912C>G	19.37:g.8326635C>G	ENSP00000251363:p.Phe304Leu					LASS4_uc002mjh.2_Missense_Mutation_p.F253L|LASS4_uc002mji.2_Missense_Mutation_p.F140L|LASS4_uc010dvz.2_Intron	p.F304L	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN			11	1232	+			304			TLC.|Helical; (Potential).		D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.912C>G	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420976	0.25639	.	.	ENSG00000090661	ENST00000251363	D	0.84298	-1.83	5.13	4.08	0.47627	TRAM/LAG1/CLN8 homology domain (3);	0.098828	0.64402	D	0.000001	T	0.80449	0.4625	L	0.49256	1.55	0.80722	D	1	B	0.22480	0.07	B	0.27796	0.083	T	0.73232	-0.4048	10	0.20046	T	0.44	-34.1087	11.7763	0.51987	0.0:0.9126:0.0:0.0874	.	304	Q9HA82	CERS4_HUMAN	L	304	ENSP00000251363:F304L	ENSP00000251363:F304L	F	+	3	2	CERS4	8232635	1.000000	0.71417	0.960000	0.40013	0.157000	0.22087	0.966000	0.29331	1.144000	0.42321	0.561000	0.74099	TTC		0.552	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		8	65	0	0	0	0.00308	0	8	65				
PRAM1	84106	broad.mit.edu	37	19	8563881	8563881	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:8563881T>C	ENST00000423345.4	-	2	1331	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	PRAM1_ENST00000255612.3_Missense_Mutation_p.K271E			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	319	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GAGGCCTTTTTGGGAAAGGCG	0.632																																							uc002mkd.2		NA																	0					0						c.(811-813)AAA>GAA		PML-RARA regulated adaptor molecule 1							38.0	42.0	41.0					19																	8563881		2187	4291	6478	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8563881T>C	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.811A>G	19.37:g.8563881T>C	ENSP00000408342:p.Lys271Glu					PRAM1_uc002mkc.2_Missense_Mutation_p.K271E	p.K271E	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	831	-			319			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.811A>G	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	T	8.232	0.804782	0.16467	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15487	2.42;2.43	3.63	0.261	0.15592	.	1.993100	0.02779	N	0.120629	T	0.17619	0.0423	L	0.61218	1.895	0.09310	N	1	P;P	0.40083	0.51;0.702	B;B	0.35931	0.13;0.214	T	0.19451	-1.0305	10	0.44086	T	0.13	.	3.3649	0.07199	0.0:0.2282:0.2059:0.5659	.	271;319	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	E	271	ENSP00000255612:K271E;ENSP00000408342:K271E	ENSP00000255612:K271E	K	-	1	0	PRAM1	8469881	0.011000	0.17503	0.000000	0.03702	0.003000	0.03518	0.238000	0.18004	-0.034000	0.13713	-0.353000	0.07706	AAA		0.632	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		14	40	0	0	0	0.00245	0	14	40				
MUC16	94025	broad.mit.edu	37	19	9061796	9061796	+	Silent	SNP	C	C	T	rs370796218		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:9061796C>T	ENST00000397910.4	-	3	25853	c.25650G>A	c.(25648-25650)ccG>ccA	p.P8550P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8552	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						AGGGAAGGCTCGGCCATGGCA	0.498																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25648-25650)CCG>CCA		mucin 16							66.0	66.0	66.0					19																	9061796		1994	4157	6151	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061796C>T	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.25650G>A	19.37:g.9061796C>T							p.P8550P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25854	-			8552			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.25650G>A	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	42	0	0	0	0.000602	0	5	42				
OR7G2	390882	broad.mit.edu	37	19	9213383	9213383	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:9213383A>T	ENST00000305456.2	-	1	599	c.600T>A	c.(598-600)tgT>tgA	p.C200*		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GAGCCAGTTCACAGAAGAAGA	0.473																																					Esophageal Squamous(67;143 1448 28637 40648)	Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1		NA																	0				skin(1)	1						c.(598-600)TGT>TGA		olfactory receptor, family 7, subfamily G,							103.0	90.0	95.0					19																	9213383		2203	4300	6503	SO:0001587	stop_gained	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213383A>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.600T>A	19.37:g.9213383A>T	ENSP00000303822:p.Cys200*						p.C200*	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	600	-			179			Extracellular (Potential).		Q6IFJ4|Q96RA0	Nonsense_Mutation	SNP	ENST00000305456.2	37	c.600T>A	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	a	16.92	3.254391	0.59212	.	.	ENSG00000170923	ENST00000305456	.	.	.	3.27	1.15	0.20763	.	0.000000	0.41001	U	0.000973	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1024	0.25344	0.7942:0.0:0.2058:0.0	.	.	.	.	X	200	.	ENSP00000303822:C200X	C	-	3	2	OR7G2	9074383	0.995000	0.38212	0.975000	0.42487	0.062000	0.15995	0.433000	0.21477	0.203000	0.20529	0.445000	0.29226	TGT		0.473	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			6	48	0	0	0	0.001168	0	6	48				
OR7G1	125962	broad.mit.edu	37	19	9226385	9226385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:9226385C>T	ENST00000541538.1	-	1	54	c.55G>A	c.(55-57)Gag>Aag	p.E19K	OR7G1_ENST00000293614.1_Missense_Mutation_p.E19K	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E19*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCTGGGTCCTCTGTCACTTTC	0.433																																							uc002mks.1		NA																	1	Substitution - Nonsense(1)		breast(1)	ovary(2)	2						c.(55-57)GAG>AAG		olfactory receptor, family 7, subfamily G,							120.0	119.0	119.0					19																	9226385		2203	4300	6503	SO:0001583	missense	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226385C>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.55G>A	19.37:g.9226385C>T	ENSP00000444134:p.Glu19Lys						p.E19K	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN			1	55	-			19			Extracellular (Potential).		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.55G>A	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	c	13.19	2.163315	0.38217	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.01068	5.38;5.38	2.65	2.65	0.31530	.	0.187971	0.25386	U	0.031056	T	0.02012	0.0063	M	0.63208	1.945	0.25291	N	0.989357	B	0.24043	0.096	B	0.27170	0.077	T	0.30475	-0.9977	10	0.46703	T	0.11	.	13.0961	0.59192	0.0:1.0:0.0:0.0	.	19	Q8NGA0	OR7G1_HUMAN	K	19	ENSP00000293614:E19K;ENSP00000444134:E19K	ENSP00000293614:E19K	E	-	1	0	OR7G1	9087385	0.000000	0.05858	0.107000	0.21349	0.025000	0.11179	-0.113000	0.10774	1.835000	0.53391	0.395000	0.25975	GAG		0.433	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			8	90	0	0	0	0.006214	0	8	90				
CARM1	10498	broad.mit.edu	37	19	11031219	11031219	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:11031219C>T	ENST00000327064.4	+	11	1494	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	CARM1_ENST00000344150.4_Missense_Mutation_p.S435L	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	435	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GACACGCTCTCAGGGACATGT	0.637																																							uc002mpz.2		NA																	0					0						c.(1303-1305)TCA>TTA		coactivator-associated arginine							124.0	106.0	112.0					19																	11031219		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11031219C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1304C>T	19.37:g.11031219C>T	ENSP00000325690:p.Ser435Leu					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.S218L	p.S435L	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			11	1430	+			435					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.1304C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	c	17.95	3.513665	0.64522	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.22134	1.97;1.97	4.86	4.86	0.63082	.	0.231260	0.37669	N	0.001981	T	0.27731	0.0682	M	0.70787	2.145	0.58432	D	0.999994	B;B	0.29612	0.174;0.251	B;B	0.28916	0.038;0.096	T	0.06320	-1.0833	10	0.40728	T	0.16	-1.5156	16.8141	0.85729	0.0:1.0:0.0:0.0	.	435;435	Q86X55-1;Q86X55	.;CARM1_HUMAN	L	435	ENSP00000325690:S435L;ENSP00000340934:S435L	ENSP00000325690:S435L	S	+	2	0	CARM1	10892219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.252000	0.74401	0.645000	0.84053	TCA		0.637	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		4	44	0	0	0	0.009096	0	4	44				
CARM1	10498	broad.mit.edu	37	19	11032406	11032406	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:11032406G>A	ENST00000327064.4	+	16	1990	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	CARM1_ENST00000344150.4_Silent_p.P577P	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	600	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGTCCATCCCGACCAACACCA	0.672																																							uc002mpz.2		NA																	0					0						c.(1798-1800)CCG>CCA		coactivator-associated arginine							61.0	67.0	65.0					19																	11032406		2203	4300	6503	SO:0001819	synonymous_variant	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11032406G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1800G>A	19.37:g.11032406G>A						CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Silent_p.P360P	p.P600P	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			16	1926	+			600			Transactivation domain (By similarity).		A6NN38	Silent	SNP	ENST00000327064.4	37	c.1800G>A	CCDS12250.1																																																																																				0.672	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		8	84	0	0	0	0.006214	0	8	84				
C19orf43	79002	broad.mit.edu	37	19	12842184	12842184	+	Missense_Mutation	SNP	C	C	A	rs11542951		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:12842184C>A	ENST00000242784.4	-	2	514	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	C19orf43_ENST00000588213.1_Missense_Mutation_p.S125I|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	133										endometrium(2)|large_intestine(2)	4						TGCTTCTTGGCTACTATTCCC	0.597																																							uc002muu.2		NA																	0					0						c.(397-399)GCC>TCC		hypothetical protein MGC2803							160.0	133.0	142.0					19																	12842184		2203	4300	6503	SO:0001583	missense	79002							g.chr19:12842184C>A	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.397G>T	19.37:g.12842184C>A	ENSP00000242784:p.Ala133Ser						p.A133S	NM_024038	NP_076943	Q9BQ61	CS043_HUMAN			2	455	-			133						Missense_Mutation	SNP	ENST00000242784.4	37	c.397G>T	CCDS12279.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154685	0.78114	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.062418	0.64402	D	0.000005	T	0.54951	0.1890	L	0.54323	1.7	0.30914	N	0.728756	D	0.56035	0.974	P	0.54270	0.747	T	0.62388	-0.6865	9	0.62326	D	0.03	-8.0764	11.4927	0.50389	0.0:0.9169:0.0:0.0831	.	133	Q9BQ61	CS043_HUMAN	S	133	.	ENSP00000242784:A133S	A	-	1	0	C19orf43	12703184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.437000	0.66544	2.534000	0.85438	0.655000	0.94253	GCC		0.597	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		11	58	1	0	3.07112e-06	0.010729	3.78058e-06	11	58				
CYP4F3	4051	broad.mit.edu	37	19	15760837	15760837	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:15760837G>A	ENST00000221307.8	+	7	809	c.762G>A	c.(760-762)caG>caA	p.Q254Q	CYP4F3_ENST00000591058.1_Silent_p.Q254Q|CYP4F3_ENST00000586182.2_Silent_p.Q254Q|CYP4F3_ENST00000585846.1_Silent_p.Q254Q	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	254					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGATGGGCAGCGTTTCCGCA	0.577																																							uc002nbj.2		NA																	0				ovary(3)	3						c.(760-762)CAG>CAA		cytochrome P450, family 4, subfamily F,							122.0	114.0	116.0					19																	15760837		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760837G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.762G>A	19.37:g.15760837G>A						CYP4F3_uc010xok.1_Silent_p.Q254Q|CYP4F3_uc010xol.1_Silent_p.Q254Q|CYP4F3_uc010xom.1_Silent_p.Q105Q|CYP4F3_uc002nbk.2_Silent_p.Q254Q|CYP4F3_uc010xon.1_5'UTR	p.Q254Q	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			7	812	+			254					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.762G>A	CCDS12332.1																																																																																				0.577	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		37	103	0	0	0	0.005524	0	37	103				
SPTBN4	57731	broad.mit.edu	37	19	41063206	41063206	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:41063206G>A	ENST00000352632.3	+	26	5653	c.5567G>A	c.(5566-5568)cGg>cAg	p.R1856Q	SPTBN4_ENST00000392023.1_Missense_Mutation_p.R532Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1856Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R599Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1856Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1856					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGCGGAGGCGGCTGCCCCGC	0.647																																							uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5566-5568)CGG>CAG		spectrin, beta, non-erythrocytic 4 isoform							28.0	31.0	30.0					19																	41063206		2186	4280	6466	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063206G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5567G>A	19.37:g.41063206G>A	ENSP00000263373:p.Arg1856Gln					SPTBN4_uc002onx.2_Missense_Mutation_p.R1856Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R1856Q|SPTBN4_uc010egx.2_Missense_Mutation_p.R599Q|SPTBN4_uc002ooa.2_Missense_Mutation_p.R532Q	p.R1856Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5653	+			1856			Spectrin 16.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5567G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917318	0.33815	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	3.63	3.63	0.41609	.	0.000000	0.64402	D	0.000009	T	0.45316	0.1336	N	0.11560	0.145	0.32856	D	0.507308	P;B;D;P	0.76494	0.916;0.412;0.999;0.784	B;B;D;B	0.80764	0.347;0.074;0.994;0.183	T	0.46843	-0.9162	10	0.12766	T	0.61	.	14.5979	0.68419	0.0:0.0:1.0:0.0	.	599;532;1856;1856	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	Q	1856;1856;1856;599;532	ENSP00000263373:R1856Q;ENSP00000340345:R1856Q;ENSP00000375879:R599Q;ENSP00000375877:R532Q	ENSP00000340345:R1856Q	R	+	2	0	SPTBN4	45755046	0.001000	0.12720	0.999000	0.59377	0.991000	0.79684	0.807000	0.27140	2.036000	0.60181	0.455000	0.32223	CGG		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	59	0	0	0	0.001168	0	6	59				
CYP2A7	1549	broad.mit.edu	37	19	41383245	41383245	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:41383245C>G	ENST00000301146.4	-	7	1552	c.1011G>C	c.(1009-1011)aaG>aaC	p.K337N	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.K286N	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	337						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTGCCGGTTCTTGCCGATCA	0.532																																							uc002opm.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1009-1011)AAG>AAC		cytochrome P450, family 2, subfamily A,							96.0	80.0	86.0					19																	41383245		2203	4298	6501	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41383245C>G	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1011G>C	19.37:g.41383245C>G	ENSP00000301146:p.Lys337Asn					CYP2A7_uc002opo.2_Missense_Mutation_p.K337N|CYP2A7_uc002opn.2_Missense_Mutation_p.K286N	p.K337N	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1553	-			337					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.1011G>C	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896134	0.33442	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.68331	-0.32;-0.32	2.18	1.1	0.20463	.	0.479876	0.20116	U	0.098920	T	0.53417	0.1795	L	0.29908	0.895	0.09310	N	1	B;P;P	0.41978	0.439;0.552;0.767	B;B;P	0.45406	0.114;0.242;0.479	T	0.47649	-0.9101	10	0.72032	D	0.01	.	4.2471	0.10677	0.2228:0.6327:0.0:0.1445	.	337;286;337	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	N	337;286	ENSP00000301146:K337N;ENSP00000291764:K286N	ENSP00000291764:K286N	K	-	3	2	CYP2A7	46075085	0.000000	0.05858	0.190000	0.23270	0.653000	0.38743	-0.525000	0.06214	0.247000	0.21414	0.184000	0.17185	AAG		0.532	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		6	59	0	0	0	0.004482	0	6	59				
ZNF526	116115	broad.mit.edu	37	19	42729969	42729969	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:42729969C>T	ENST00000301215.3	+	3	1639	c.1414C>T	c.(1414-1416)Cac>Tac	p.H472Y		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAACGGCGTCACCGCTGTGG	0.652																																							uc002osz.1		NA																	0					0						c.(1414-1416)CAC>TAC		zinc finger protein 526							65.0	68.0	67.0					19																	42729969		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729969C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1414C>T	19.37:g.42729969C>T	ENSP00000301215:p.His472Tyr						p.H472Y	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	1570	+		Prostate(69;0.0704)	472			C2H2-type 10.		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1414C>T	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303461	0.40795	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.13089	2.62	4.97	3.91	0.45181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.364252	0.26387	N	0.024665	T	0.05318	0.0141	N	0.04686	-0.185	0.19575	N	0.999965	P	0.44734	0.842	B	0.36922	0.236	T	0.31364	-0.9946	10	0.02654	T	1	-15.0744	13.89	0.63733	0.1541:0.8459:0.0:0.0	.	472	Q8TF50	ZN526_HUMAN	Y	328;472	ENSP00000301215:H472Y	ENSP00000301215:H472Y	H	+	1	0	ZNF526	47421809	0.133000	0.22466	0.027000	0.17364	0.915000	0.54546	1.437000	0.34991	1.429000	0.47314	0.650000	0.86243	CAC		0.652	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		12	107	0	0	0	0.00245	0	12	107				
MEGF8	1954	broad.mit.edu	37	19	42853690	42853690	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:42853690A>C	ENST00000251268.6	+	14	2338	c.2338A>C	c.(2338-2340)Acg>Ccg	p.T780P	MEGF8_ENST00000334370.4_Missense_Mutation_p.T713P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	780					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGAGAAGGAGACGCGGCGGCT	0.647																																							uc002otl.3		NA																	0				ovary(1)	1						c.(2137-2139)ACG>CCG		multiple EGF-like-domains 8							27.0	33.0	31.0					19																	42853690		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42853690A>C	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2338A>C	19.37:g.42853690A>C	ENSP00000251268:p.Thr780Pro					MEGF8_uc002otm.3_Missense_Mutation_p.T321P	p.T713P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			13	2772	+		Prostate(69;0.00682)	780			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.2137A>C		.	.	.	.	.	.	.	.	.	.	A	11.34	1.610533	0.28712	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21932	1.99;1.98	4.8	4.8	0.61643	.	0.855550	0.10115	N	0.714146	T	0.16342	0.0393	N	0.08118	0	0.80722	D	1	B;B	0.24317	0.046;0.101	B;B	0.40940	0.019;0.344	T	0.22836	-1.0205	10	0.30078	T	0.28	-0.7816	7.1571	0.25643	0.8976:0.0:0.1024:0.0	.	780;713	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	P	713;780	ENSP00000334219:T713P;ENSP00000251268:T780P	ENSP00000251268:T780P	T	+	1	0	MEGF8	47545530	0.937000	0.31787	0.982000	0.44146	0.476000	0.33039	3.626000	0.54245	1.791000	0.52520	0.402000	0.26972	ACG		0.647	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		5	27	0	0	0	0.001168	0	5	27				
ZNF841	284371	broad.mit.edu	37	19	52568907	52568907	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:52568907C>A	ENST00000426391.2	-	5	2431	c.1880G>T	c.(1879-1881)gGg>gTg	p.G627V	ZNF432_ENST00000598446.1_Intron|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.G743V|ZNF841_ENST00000389534.4_Missense_Mutation_p.G743V			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	627					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AAAGACTTTCCCACATTCAAT	0.393																																							uc002pyl.1		NA																	0					0						c.(1879-1881)GGG>GTG		zinc finger protein 841							119.0	107.0	110.0					19																	52568907		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568907C>A	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1880G>T	19.37:g.52568907C>A	ENSP00000415453:p.Gly627Val					ZNF841_uc010ydh.1_Missense_Mutation_p.G743V|ZNF841_uc010epk.1_Intron	p.G627V	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN			5	2432	-			627			C2H2-type 18.		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1880G>T		.	.	.	.	.	.	.	.	.	.	C	15.16	2.750334	0.49257	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.23754	1.89;1.89	2.04	0.951	0.19579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55955	0.1953	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.968	T	0.57688	-0.7768	9	0.72032	D	0.01	.	7.5611	0.27851	0.0:0.8553:0.0:0.1447	.	743;627	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	V	743;627	ENSP00000374185:G743V;ENSP00000415453:G627V	ENSP00000374185:G743V	G	-	2	0	ZNF841	57260719	0.000000	0.05858	0.001000	0.08648	0.350000	0.29205	-0.153000	0.10144	0.180000	0.19960	0.313000	0.20887	GGG		0.393	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		7	12	1	0	8.12818e-05	0.001984	9.4384e-05	7	12				
DNAAF3	352909	broad.mit.edu	37	19	55670627	55670627	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:55670627C>G	ENST00000524407.2	-	12	1462	c.1429G>C	c.(1429-1431)Gac>Cac	p.D477H	CTD-2587H24.4_ENST00000587871.1_Nonstop_Mutation_p.*138S|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000455045.1_Missense_Mutation_p.D423H|TNNI3_ENST00000344887.5_5'Flank|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.D524H|DNAAF3_ENST00000527223.2_Missense_Mutation_p.D544H			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	477					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GCCAGGATGTCAAGGGGCGGA	0.647																																							uc002qji.1		NA																	0					0						c.(1429-1431)GAC>CAC		RecName: Full=UPF0470 protein C19orf51;							28.0	33.0	31.0					19																	55670627		1970	4141	6111	SO:0001583	missense	352909							g.chr19:55670627C>G	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1429G>C	19.37:g.55670627C>G	ENSP00000432046:p.Asp477His					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.D292H|C19orf51_uc002qjj.1_Missense_Mutation_p.D524H|C19orf51_uc002qjk.1_Missense_Mutation_p.D423H|C19orf51_uc002qjl.1_Missense_Mutation_p.D544H	p.D477H			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1463	-			477					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1429G>C	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	c	15.33	2.800538	0.50315	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.20332	2.11;2.08	3.24	2.19	0.27852	.	1.271320	0.05847	N	0.620463	T	0.23210	0.0561	N	0.19112	0.55	0.09310	N	1	P;P;P;P	0.44195	0.729;0.828;0.729;0.729	P;P;B;P	0.50617	0.646;0.646;0.371;0.526	T	0.33445	-0.9868	10	0.72032	D	0.01	-2.1071	7.9183	0.29831	0.0:0.8674:0.0:0.1326	.	544;423;497;477	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	H	544;423;524	ENSP00000394343:D423H;ENSP00000375600:D524H	ENSP00000301249:D544H	D	-	1	0	C19orf51	60362439	0.000000	0.05858	0.006000	0.13384	0.027000	0.11550	-0.010000	0.12743	0.915000	0.36847	0.556000	0.70494	GAC		0.647	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		5	31	0	0	0	0.001168	0	5	31				
U2AF2	11338	broad.mit.edu	37	19	56180086	56180086	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:56180086C>G	ENST00000308924.4	+	9	913	c.873C>G	c.(871-873)gtC>gtG	p.V291V	CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Silent_p.V291V|U2AF2_ENST00000590551.1_Silent_p.V127V|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	291	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCAACCTGGTCAAGGACAGTG	0.632																																							uc002qlu.2		NA																	0				ovary(1)	1						c.(871-873)GTC>GTG		U2 (RNU2) small nuclear RNA auxiliary factor 2							63.0	60.0	61.0					19																	56180086		2203	4300	6503	SO:0001819	synonymous_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56180086C>G	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.873C>G	19.37:g.56180086C>G						U2AF2_uc002qlt.2_Silent_p.V291V	p.V291V	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	9	1928	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	291			RRM 2.		Q96HC5	Silent	SNP	ENST00000308924.4	37	c.873C>G	CCDS12933.1																																																																																				0.632	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		9	65	0	0	0	0.008291	0	9	65				
MBOAT2	129642	broad.mit.edu	37	2	9008594	9008594	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:9008594C>G	ENST00000305997.3	-	9	1167	c.969G>C	c.(967-969)ttG>ttC	p.L323F	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	323					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGAATTCTCAAATTGGAAA	0.363																																					Ovarian(194;1699 3813 22401)	Ovarian(194;1699 3813 22401)	uc002qzg.1		NA																	0					0						c.(967-969)TTG>TTC		O-acyltransferase (membrane bound) domain							99.0	104.0	102.0					2																	9008594		2203	4300	6503	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9008594C>G	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.969G>C	2.37:g.9008594C>G	ENSP00000302177:p.Leu323Phe					MBOAT2_uc010yix.1_Missense_Mutation_p.L323F	p.L323F	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN			9	1102	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		323					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.969G>C	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212743	0.39102	.	.	ENSG00000143797	ENST00000305997	T	0.73789	-0.78	5.18	4.31	0.51392	.	0.069623	0.56097	D	0.000021	T	0.81870	0.4914	M	0.62266	1.93	0.51767	D	0.999934	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	T	0.82192	-0.0579	10	0.87932	D	0	-14.7867	8.4273	0.32735	0.0:0.7643:0.0:0.2357	.	323;323	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	F	323	ENSP00000302177:L323F	ENSP00000302177:L323F	L	-	3	2	MBOAT2	8926045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.883000	0.28200	1.168000	0.42723	0.585000	0.79938	TTG		0.363	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		8	58	0	0	0	0.00308	0	8	58				
TP53I3	9540	broad.mit.edu	37	2	24305854	24305854	+	Missense_Mutation	SNP	C	C	T	rs368274051		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:24305854C>T	ENST00000238721.4	-	2	1161	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000335934.4_Missense_Mutation_p.E103K|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000313482.4_Missense_Mutation_p.E103K|TP53I3_ENST00000407482.1_Missense_Mutation_p.E103K	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	103					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGCCCTTCGGGGACAGTG	0.652																																							uc002rey.1		NA																	0					0						c.(307-309)GAA>AAA		tumor protein p53 inducible protein 3		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	50.0	53.0	52.0		307,307,307	3.4	0.0	2		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TP53I3	NM_001206802.2,NM_004881.4,NM_147184.3	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	103/249,103/333,103/333	24305854	1,13005	2203	4300	6503	SO:0001583	missense	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24305854C>T	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.307G>A	2.37:g.24305854C>T	ENSP00000238721:p.Glu103Lys					LOC375190_uc002rew.2_Intron|TP53I3_uc002rex.1_Missense_Mutation_p.E103K|TP53I3_uc002rez.1_Missense_Mutation_p.E103K|TP53I3_uc010ykk.1_Intron	p.E103K	NM_147184	NP_671713	Q53FA7	QORX_HUMAN			3	367	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		103					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	c.307G>A	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415952	0.25552	0.0	1.16E-4	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	T;T;T;T;T	0.20200	2.09;2.09;2.34;2.34;2.37	5.2	3.36	0.38483	GroES-like (1);	0.357994	0.30686	N	0.009098	T	0.14356	0.0347	L	0.48174	1.505	0.34668	D	0.723416	B;P	0.38020	0.075;0.615	B;B	0.24701	0.007;0.055	T	0.23368	-1.0190	10	0.33141	T	0.24	-17.4369	9.6995	0.40178	0.1403:0.7851:0.0:0.0746	.	103;103	Q53FA7;Q53FA7-2	QORX_HUMAN;.	K	103;103;103;103;98	ENSP00000337834:E103K;ENSP00000238721:E103K;ENSP00000322298:E103K;ENSP00000384414:E103K;ENSP00000389620:E98K	ENSP00000238721:E103K	E	-	1	0	TP53I3	24159358	0.999000	0.42202	0.007000	0.13788	0.059000	0.15707	4.211000	0.58507	0.666000	0.31087	0.655000	0.94253	GAA		0.652	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		4	41	0	0	0	0.009096	0	4	41				
ASXL2	55252	broad.mit.edu	37	2	25966745	25966745	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:25966745G>A	ENST00000435504.4	-	13	2754	c.2461C>T	c.(2461-2463)Cca>Tca	p.P821S	ASXL2_ENST00000404843.1_Missense_Mutation_p.P561S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P793S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P561S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	821					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTTGTGGATGGCTGACA	0.522																																							uc002rgs.2		NA																	0				pancreas(1)	1						c.(2461-2463)CCA>TCA		additional sex combs like 2							180.0	180.0	180.0					2																	25966745		2043	4185	6228	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966745G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2461C>T	2.37:g.25966745G>A	ENSP00000391447:p.Pro821Ser					ASXL2_uc002rgt.1_Missense_Mutation_p.P561S	p.P821S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			12	2682	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		821					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2461C>T		.	.	.	.	.	.	.	.	.	.	G	2.109	-0.404169	0.04832	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.16324	2.35;2.35;2.39;2.39	5.84	1.34	0.21922	.	0.519893	0.21360	N	0.075805	T	0.07503	0.0189	N	0.17474	0.49	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.10450	0.004;0.005	T	0.40924	-0.9537	10	0.07030	T	0.85	0.4674	6.6223	0.22810	0.2966:0.1365:0.5669:0.0	.	561;821	Q76L83-2;Q76L83	.;ASXL2_HUMAN	S	821;793;561;561	ENSP00000391447:P821S;ENSP00000337250:P793S;ENSP00000383920:P561S;ENSP00000272341:P561S	ENSP00000272341:P561S	P	-	1	0	ASXL2	25820249	0.000000	0.05858	0.008000	0.14137	0.413000	0.31143	-0.515000	0.06290	0.338000	0.23692	0.563000	0.77884	CCA		0.522	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		16	199	0	0	0	0.004007	0	16	199				
CAPN13	92291	broad.mit.edu	37	2	30966341	30966341	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:30966341C>A	ENST00000295055.8	-	13	1529	c.1353G>T	c.(1351-1353)ctG>ctT	p.L451L	CAPN13_ENST00000534090.2_Silent_p.L451L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	451					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCCCAGGGCTCAGATGGTAAG	0.463																																							uc002rnn.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1351-1353)CTG>CTT		calpain 13							241.0	233.0	236.0					2																	30966341		1877	4121	5998	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30966341C>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1353G>T	2.37:g.30966341C>A						CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_Silent_p.L5L	p.L451L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			12	1529	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		451					Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.1353G>T	CCDS46252.1																																																																																				0.463	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		27	168	1	0	7.92952e-12	0.003954	1.07853e-11	27	168				
THUMPD2	80745	broad.mit.edu	37	2	39963894	39963894	+	Missense_Mutation	SNP	G	G	A	rs145653260	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:39963894G>A	ENST00000505747.1	-	10	1520	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	THUMPD2_ENST00000260619.6_Missense_Mutation_p.S468L	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	498							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AGAAGAGTGCGACTTCTTATA	0.448																																							uc002rru.2		NA																	0				skin(1)	1						c.(1492-1494)TCG>TTG		THUMP domain containing 2							82.0	74.0	77.0					2																	39963894		2203	4300	6503	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39963894G>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.1493C>T	2.37:g.39963894G>A	ENSP00000423933:p.Ser498Leu					THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.S389L	p.S498L	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN			10	1530	-		all_hematologic(82;0.248)	498					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.1493C>T	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653694	0.14580	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.91	2.8	0.32819	.	1.015450	0.07884	N	0.970004	T	0.35307	0.0927	L	0.51422	1.61	0.20489	N	0.999897	B;B	0.18310	0.027;0.027	B;B	0.12156	0.007;0.007	T	0.27088	-1.0084	8	.	.	.	.	5.9071	0.19006	0.3495:0.0:0.6505:0.0	.	389;498	B4DP37;Q9BTF0	.;THUM2_HUMAN	L	498;468	.	.	S	-	2	0	THUMPD2	39817398	0.001000	0.12720	0.321000	0.25320	0.010000	0.07245	0.655000	0.24933	0.845000	0.35118	0.655000	0.94253	TCG		0.448	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		4	36	0	0	0	0.009096	0	4	36				
SLC8A1	6546	broad.mit.edu	37	2	40655756	40655756	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:40655756G>T	ENST00000403092.1	-	2	1698	c.1665C>A	c.(1663-1665)atC>atA	p.I555I	SLC8A1_ENST00000406785.2_Silent_p.I555I|SLC8A1_ENST00000402441.1_Silent_p.I555I|SLC8A1_ENST00000542024.1_Silent_p.I555I|SLC8A1_ENST00000405269.1_Silent_p.I555I|SLC8A1_ENST00000542756.1_Silent_p.I555I|SLC8A1_ENST00000408028.2_Silent_p.I555I|SLC8A1_ENST00000332839.4_Silent_p.I555I|SLC8A1_ENST00000406391.2_Silent_p.I555I|SLC8A1_ENST00000405901.3_Silent_p.I555I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	555	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACCTCCATGATGCCAATGC	0.458																																							uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1663-1665)ATC>ATA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						141.0	144.0	143.0					2																	40655756		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655756G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1665C>A	2.37:g.40655756G>T						SLC8A1_uc002rry.2_Silent_p.I555I|SLC8A1_uc002rrz.2_Silent_p.I555I|SLC8A1_uc002rsa.2_Silent_p.I555I|SLC8A1_uc002rsd.3_Silent_p.I555I|SLC8A1_uc002rsb.1_Silent_p.I555I|SLC8A1_uc010fan.1_Silent_p.I555I|SLC8A1_uc002rsc.1_Silent_p.I555I	p.I555I	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1689	-			555			Calx-beta 2.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.1665C>A	CCDS1806.1																																																																																				0.458	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		9	97	1	0	2.17888e-05	0.006214	2.592e-05	9	97				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977961	53977961	+	Missense_Mutation	SNP	G	G	C	rs139014010		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:53977961G>C	ENST00000263634.3	-	3	448	c.314C>G	c.(313-315)cCt>cGt	p.P105R	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.P32R|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Missense_Mutation_p.P140R|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.P143R|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.P32R|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		AGTTGCATTAGGATCTGCCCC	0.353																																							uc002rxg.1		NA																	0				ovary(1)|kidney(1)	2						c.(313-315)CCT>CGT		ankyrin repeat and SOCS box-containing protein 3							112.0	114.0	113.0					2																	53977961		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53977961G>C		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.314C>G	2.37:g.53977961G>C	ENSP00000263634:p.Pro105Arg					ASB3_uc002rxh.1_Missense_Mutation_p.P32R|ASB3_uc002rxi.3_Missense_Mutation_p.P143R|ASB3_uc010yoo.1_Missense_Mutation_p.P105R	p.P105R	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		3	449	-			105			ANK 3.			Missense_Mutation	SNP	ENST00000263634.3	37	c.314C>G	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092978	0.76756	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.54	4.65	0.58169	Ankyrin repeat-containing domain (4);	0.413451	0.26780	N	0.022534	T	0.73845	0.3639	L	0.58810	1.83	0.39193	D	0.962994	D;D;D	0.61697	0.978;0.988;0.99	P;D;D	0.65140	0.776;0.917;0.932	T	0.78922	-0.2013	9	0.66056	D	0.02	-20.4482	14.9846	0.71336	0.0728:0.0:0.9272:0.0	.	105;140;105	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	R	105;140;32;32;143;105	ENSP00000263634:P105R;ENSP00000385085:P140R;ENSP00000384728:P32R;ENSP00000378206:P32R;ENSP00000313756:P143R	ENSP00000263634:P105R	P	-	2	0	ASB3	53831465	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	3.037000	0.49775	2.779000	0.95612	0.591000	0.81541	CCT		0.353	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			9	45	0	0	0	0.006214	0	9	45				
ANTXR1	84168	broad.mit.edu	37	2	69472433	69472433	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:69472433C>G	ENST00000303714.4	+	18	1833	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	504					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TACCACAcctcctcgccgcct	0.642									Familial Infantile Hemangioma																														uc002sfg.2		NA																	0				ovary(2)|skin(2)	4						c.(1510-1512)TCC>TGC		anthrax toxin receptor 1 isoform 1 precursor							136.0	143.0	140.0					2																	69472433		2203	4300	6503	SO:0001583	missense	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69472433C>G	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1511C>G	2.37:g.69472433C>G	ENSP00000301945:p.Ser504Cys						p.S504C	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			18	1867	+			504			Cytoplasmic (Potential).		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1511C>G	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	C	0.617	-0.822695	0.02755	.	.	ENSG00000169604	ENST00000303714	T	0.33216	1.42	4.43	0.21	0.15231	.	1.228950	0.05576	N	0.571899	T	0.16642	0.0400	N	0.08118	0	0.26167	N	0.97992	B	0.21071	0.051	B	0.25405	0.06	T	0.31052	-0.9957	10	0.54805	T	0.06	-5.935	4.3252	0.11036	0.2407:0.3111:0.3723:0.0759	.	504	Q9H6X2	ANTR1_HUMAN	C	504	ENSP00000301945:S504C	ENSP00000301945:S504C	S	+	2	0	ANTXR1	69325937	0.068000	0.21057	0.724000	0.30704	0.060000	0.15804	0.200000	0.17257	-0.190000	0.10465	-0.310000	0.09108	TCC		0.642	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		3	53	0	0	0	0.009096	0	3	53				
MARCO	8685	broad.mit.edu	37	2	119727727	119727727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:119727727G>T	ENST00000327097.4	+	3	372	c.237G>T	c.(235-237)atG>atT	p.M79I	MARCO_ENST00000541757.1_Start_Codon_SNP_p.M1I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	79					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCCTGGAGATGTATTTCCTCA	0.577																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(235-237)ATG>ATT		macrophage receptor with collagenous structure							78.0	84.0	82.0					2																	119727727		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119727727G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.237G>T	2.37:g.119727727G>T	ENSP00000318916:p.Met79Ile					MARCO_uc010yyf.1_Missense_Mutation_p.M1I	p.M79I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			3	369	+			79			Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.237G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319076	0.23994	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.89415	-2.51;-2.46	4.43	0.24	0.15489	.	1.015560	0.07859	N	0.965921	T	0.78304	0.4262	N	0.12746	0.255	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.58393	-0.7644	9	.	.	.	.	11.7191	0.51672	0.0:0.0:0.3297:0.6703	.	79	Q9UEW3	MARCO_HUMAN	I	79;79;1;1	ENSP00000318916:M79I;ENSP00000441769:M1I	.	M	+	3	0	MARCO	119444197	0.000000	0.05858	0.006000	0.13384	0.028000	0.11728	-1.466000	0.02355	0.020000	0.15106	0.561000	0.74099	ATG		0.577	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		13	78	1	0	6.31663e-08	0.003163	8.05629e-08	13	78				
POTEF	728378	broad.mit.edu	37	2	130877990	130877990	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:130877990G>A	ENST00000409914.2	-	3	498	c.99C>T	c.(97-99)ccC>ccT	p.P33P	POTEF_ENST00000361163.4_Silent_p.P33P|POTEF_ENST00000357462.5_Silent_p.P33P|POTEF_ENST00000360967.5_Silent_p.P33P	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	33					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCCTGCAGCAGGGGAAGCAAC	0.577																																							uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(97-99)CCC>CCT		prostate, ovary, testis expressed protein on							165.0	164.0	164.0					2																	130877990		2201	4298	6499	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130877990G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.99C>T	2.37:g.130877990G>A							p.P33P	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	499	-			33					A6NC34	Silent	SNP	ENST00000409914.2	37	c.99C>T	CCDS46409.1																																																																																				0.577	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		26	246	0	0	0	0.00632	0	26	246				
GPR148	344561	broad.mit.edu	37	2	131487352	131487352	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:131487352C>A	ENST00000309926.4	+	1	710	c.628C>A	c.(628-630)Cag>Aag	p.Q210K		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATGGGCACCCAGCCGGGATG	0.542																																							uc002trv.1		NA																	0				skin(1)	1						c.(628-630)CAG>AAG		G protein-coupled receptor 148							130.0	127.0	128.0					2																	131487352		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487352C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.628C>A	2.37:g.131487352C>A	ENSP00000308908:p.Gln210Lys						p.Q210K	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	630	+	Colorectal(110;0.1)		210			Extracellular (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.628C>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.712580	0.00094	.	.	ENSG00000173302	ENST00000309926	T	0.34472	1.36	2.74	-4.98	0.03019	GPCR, rhodopsin-like superfamily (1);	1.523810	0.05059	N	0.479592	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13388	-1.0511	10	0.40728	T	0.16	-0.0303	1.3056	0.02087	0.3637:0.3254:0.1752:0.1357	.	210	Q8TDV2	GP148_HUMAN	K	210	ENSP00000308908:Q210K	ENSP00000308908:Q210K	Q	+	1	0	GPR148	131203822	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.554000	0.06006	-0.792000	0.04480	0.313000	0.20887	CAG		0.542	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		14	90	1	0	3.27435e-08	0.00245	4.21763e-08	14	90				
LCT	3938	broad.mit.edu	37	2	136547323	136547323	+	Missense_Mutation	SNP	G	G	A	rs183725992		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:136547323G>A	ENST00000264162.2	-	16	5391	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1794	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATTGTCCATCGCACTCCAAAC	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21694	0.0		0.0	False		,,,				2504	0.0						uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(5380-5382)GCG>GTG		lactase-phlorizin hydrolase preproprotein							143.0	136.0	138.0					2																	136547323		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136547323G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5381C>T	2.37:g.136547323G>A	ENSP00000264162:p.Ala1794Val						p.A1794V	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	16	5392	-			1794			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.5381C>T	CCDS2178.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.72	3.200915	0.58234	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.74	4.49	0.54785	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.758642	0.12190	N	0.491292	T	0.17492	0.0420	N	0.05012	-0.13	0.30009	N	0.81537	B	0.09022	0.002	B	0.12837	0.008	T	0.13818	-1.0495	10	0.52906	T	0.07	-0.198	10.5282	0.44960	0.9161:0.0:0.0839:0.0	.	1794	P09848	LPH_HUMAN	V	1794	ENSP00000264162:A1794V	ENSP00000264162:A1794V	A	-	2	0	LCT	136263793	1.000000	0.71417	0.709000	0.30452	0.987000	0.75469	5.364000	0.66110	0.885000	0.36088	-0.253000	0.11424	GCG		0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		13	128	0	0	0	0.001368	0	13	128				
LRP1B	53353	broad.mit.edu	37	2	141680547	141680548	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:141680547_141680548GG>TT	ENST00000389484.3	-	21	4276_4277	c.3305_3306CC>AA	c.(3304-3306)tCC>tAA	p.S1102*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1102	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACTCCAACAGGAAAACTTGGT	0.441										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3304-3306)TCC>TAA		low density lipoprotein-related protein 1B																																				SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141680547_141680548GG>TT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3305_3306delinsTT	2.37:g.141680547_141680548delinsTT	ENSP00000374135:p.Ser1102*	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Nonsense_Mutation_p.S284*	p.S1102*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	21	4277_4278	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1102			Extracellular (Potential).|LDL-receptor class A 9.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	DNP	ENST00000389484.3	37	c.3305_3306CC>AA	CCDS2182.1																																																																																				0.441	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	41	0	0	0	0.004672	0	7	41				
FIGN	55137	broad.mit.edu	37	2	164468312	164468312	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:164468312C>G	ENST00000333129.3	-	3	344	c.30G>C	c.(28-30)ttG>ttC	p.L10F	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	10					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGCATCTTCAAGCCTAAGA	0.443																																							uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(28-30)TTG>TTC		fidgetin							49.0	49.0	49.0					2																	164468312		1984	4183	6167	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468312C>G	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.30G>C	2.37:g.164468312C>G	ENSP00000333836:p.Leu10Phe						p.L10F	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	341	-			10					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.30G>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227378	0.58668	.	.	ENSG00000182263	ENST00000333129	T	0.25085	1.82	6.17	6.17	0.99709	.	0.000000	0.56097	U	0.000034	T	0.50650	0.1628	L	0.54323	1.7	0.58432	D	0.999999	D	0.64830	0.994	D	0.75484	0.986	T	0.38243	-0.9670	10	0.87932	D	0	-3.7778	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10	Q5HY92	FIGN_HUMAN	F	10	ENSP00000333836:L10F	ENSP00000333836:L10F	L	-	3	2	FIGN	164176558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.658000	0.68003	2.941000	0.99782	0.655000	0.94253	TTG		0.443	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		3	42	0	0	0	0.004672	0	3	42				
SCN3A	6328	broad.mit.edu	37	2	165947170	165947170	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:165947170T>A	ENST00000360093.3	-	28	5984	c.5493A>T	c.(5491-5493)aaA>aaT	p.K1831N	SCN3A_ENST00000409101.3_Missense_Mutation_p.K1782N|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Missense_Mutation_p.K314N|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.K1831N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1831					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGCTGGACTTTGTTGGGTT	0.453																																							uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(5491-5493)AAA>AAT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						99.0	103.0	102.0					2																	165947170		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947170T>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5493A>T	2.37:g.165947170T>A	ENSP00000353206:p.Lys1831Asn					SCN3A_uc010zcy.1_Missense_Mutation_p.K314N|SCN3A_uc002ucy.2_Missense_Mutation_p.K1782N|SCN3A_uc002ucz.2_Missense_Mutation_p.K1782N	p.K1831N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			28	5985	-			1831					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.5493A>T		.	.	.	.	.	.	.	.	.	.	T	10.83	1.461068	0.26248	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.97089	-4.0;-4.0;-3.95;-4.24	6.07	3.73	0.42828	.	0.000000	0.64402	D	0.000001	D	0.97077	0.9045	M	0.63208	1.945	0.35861	D	0.827514	B;D;B	0.61080	0.0;0.989;0.135	B;D;B	0.70016	0.002;0.967;0.04	D	0.97021	0.9743	10	0.72032	D	0.01	.	3.7864	0.08702	0.2423:0.1995:0.0:0.5582	.	1782;1782;1831	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	N	1831;1831;1782;314	ENSP00000353206:K1831N;ENSP00000283254:K1831N;ENSP00000386726:K1782N;ENSP00000439920:K314N	ENSP00000283254:K1831N	K	-	3	2	SCN3A	165655416	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	0.212000	0.17497	1.111000	0.41721	0.533000	0.62120	AAA		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		9	99	0	0	0	0.008291	0	9	99				
LRP2	4036	broad.mit.edu	37	2	170042448	170042448	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:170042448C>G	ENST00000263816.3	-	50	9695	c.9410G>C	c.(9409-9411)tGt>tCt	p.C3137S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3137	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACCAGGACGACAGGAACAATA	0.438																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9409-9411)TGT>TCT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						95.0	94.0	94.0					2																	170042448		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042448C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9410G>C	2.37:g.170042448C>G	ENSP00000263816:p.Cys3137Ser						p.C3137S	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9623	-			3137			EGF-like 11.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9410G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805411	0.90623	.	.	ENSG00000081479	ENST00000263816	D	0.99999	-13.64	5.88	5.88	0.94601	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99999	1.0000	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99997	1.5771	10	0.87932	D	0	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	3137	P98164	LRP2_HUMAN	S	3137	ENSP00000263816:C3137S	ENSP00000263816:C3137S	C	-	2	0	LRP2	169750694	1.000000	0.71417	0.990000	0.47175	0.879000	0.50718	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	TGT		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		7	66	0	0	0	0.001984	0	7	66				
ATF2	1386	broad.mit.edu	37	2	175957959	175957959	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:175957959T>C	ENST00000264110.2	-	12	1313	c.1015A>G	c.(1015-1017)Aca>Gca	p.T339A	ATF2_ENST00000426833.3_Missense_Mutation_p.T321A|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Missense_Mutation_p.T281A|ATF2_ENST00000392544.1_Missense_Mutation_p.T339A|ATF2_ENST00000409635.1_Missense_Mutation_p.T281A|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.T223A|ATF2_ENST00000538946.1_Missense_Mutation_p.T321A	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	339					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|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 transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CGACCACTTGTACTTTGGGTC	0.413																																					Pancreas(17;87 705 4534 15538 30988)	Pancreas(17;87 705 4534 15538 30988)	uc002ujl.2		NA																	0				lung(1)|breast(1)|pancreas(1)	3						c.(1015-1017)ACA>GCA		activating transcription factor 2							61.0	57.0	58.0					2																	175957959		2203	4300	6503	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175957959T>C	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1015A>G	2.37:g.175957959T>C	ENSP00000264110:p.Thr339Ala					ATF2_uc010fqv.2_Missense_Mutation_p.T290A|ATF2_uc002ujv.2_Missense_Mutation_p.T86A|ATF2_uc002ujm.2_Missense_Mutation_p.T281A|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.T339A|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.T321A|ATF2_uc002ujs.2_Missense_Mutation_p.T281A|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.T281A|ATF2_uc002ujx.1_RNA	p.T339A	NM_001880	NP_001871	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		12	1277	-			339					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.1015A>G	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.782851	0.70222	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.79033	-1.22;0.37;-0.59;0.37;-1.22;-1.23;-0.74	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.75615	2.305	0.80722	D	1	D;P;P;P	0.58970	0.984;0.92;0.869;0.61	D;P;B;B	0.65443	0.935;0.526;0.418;0.345	D	0.84790	0.0778	10	0.27785	T	0.31	-46.9165	15.9227	0.79589	0.0:0.0:0.0:1.0	.	321;316;281;339	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	A	339;281;316;223;281;339;321;321	ENSP00000264110:T339A;ENSP00000340576:T281A;ENSP00000386326:T223A;ENSP00000387093:T281A;ENSP00000376327:T339A;ENSP00000407911:T321A;ENSP00000437952:T321A	ENSP00000264110:T339A	T	-	1	0	ATF2	175666205	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.638000	0.61353	2.157000	0.67596	0.528000	0.53228	ACA		0.413	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		4	32	0	0	0	0.009096	0	4	32				
TTN	7273	broad.mit.edu	37	2	179591958	179591958	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:179591958C>T	ENST00000591111.1	-	67	19407	c.19183G>A	c.(19183-19185)Gat>Aat	p.D6395N	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5468N|TTN_ENST00000589042.1_Missense_Mutation_p.D6712N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13166	Ig-like 45.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACTTATCACTGGCTGGA	0.443																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16402-16404)GAT>AAT		titin isoform N2-A							94.0	87.0	89.0					2																	179591958		1917	4129	6046	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591958C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19183G>A	2.37:g.179591958C>T	ENSP00000465570:p.Asp6395Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2129N	p.D5468N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	16626	-			6395					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16402G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073400	0.36566	.	.	ENSG00000155657	ENST00000342992	T	0.43294	0.95	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40297	0.1111	L	0.29908	0.895	0.80722	D	1	B	0.21381	0.055	B	0.27170	0.077	T	0.18999	-1.0319	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	6395	Q8WZ42	TITIN_HUMAN	N	5468	ENSP00000343764:D5468N	ENSP00000343764:D5468N	D	-	1	0	TTN	179300203	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.287000	0.51732	2.941000	0.99782	0.655000	0.94253	GAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	52	0	0	0	0.00308	0	7	52				
DNAH7	56171	broad.mit.edu	37	2	196740445	196740445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:196740445C>A	ENST00000312428.6	-	38	6340	c.6240G>T	c.(6238-6240)atG>atT	p.M2080I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2080	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTAGTTTAATCATGGAACAAT	0.418																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(6238-6240)ATG>ATT		dynein, axonemal, heavy chain 7							89.0	83.0	85.0					2																	196740445		1879	4100	5979	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196740445C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6240G>T	2.37:g.196740445C>A	ENSP00000311273:p.Met2080Ile						p.M2080I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			38	6341	-			2080			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6240G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731259	0.30684	.	.	ENSG00000118997	ENST00000312428	T	0.33438	1.41	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);	0.181068	0.56097	D	0.000029	T	0.23410	0.0566	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.16722	0.016	T	0.04333	-1.0959	10	0.20519	T	0.43	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	2080	Q8WXX0	DYH7_HUMAN	I	2080	ENSP00000311273:M2080I	ENSP00000311273:M2080I	M	-	3	0	DNAH7	196448690	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	2.969000	0.49232	2.550000	0.86006	0.655000	0.94253	ATG		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	32	1	0	3.09899e-07	0.004482	3.90131e-07	9	32				
PLCL1	5334	broad.mit.edu	37	2	198950567	198950567	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:198950567C>G	ENST00000428675.1	+	2	2724	c.2326C>G	c.(2326-2328)Cct>Gct	p.P776A	PLCL1_ENST00000437704.2_Missense_Mutation_p.P678A	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	776	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAGTGATAATCCTATTTTTGA	0.393																																							uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(2326-2328)CCT>GCT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						115.0	108.0	111.0					2																	198950567		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950567C>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2326C>G	2.37:g.198950567C>G	ENSP00000402861:p.Pro776Ala					PLCL1_uc002uuv.3_Missense_Mutation_p.P697A	p.P776A	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2617	+			776			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2326C>G	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415569	0.62511	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.64618	-0.11;-0.11	5.26	5.26	0.73747	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.197407	0.36932	N	0.002322	D	0.84579	0.5503	M	0.92738	3.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.87820	0.2637	9	.	.	.	.	19.056	0.93066	0.0:1.0:0.0:0.0	.	776;702	Q15111;B4DYZ4	PLCL1_HUMAN;.	A	776;678	ENSP00000402861:P776A;ENSP00000414138:P678A	.	P	+	1	0	PLCL1	198658812	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.641000	0.83368	2.735000	0.93741	0.561000	0.74099	CCT		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		6	61	0	0	0	0.001168	0	6	61				
TTLL4	9654	broad.mit.edu	37	2	219602948	219602948	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:219602948C>G	ENST00000392102.1	+	3	889	c.549C>G	c.(547-549)ctC>ctG	p.L183L	TTLL4_ENST00000258398.4_Silent_p.L183L|TTLL4_ENST00000442769.1_Silent_p.L183L|TTLL4_ENST00000457313.1_Silent_p.L18L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	183					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AACCATACCTCTGCTTGGCAG	0.567																																					GBM(172;1818 2053 15407 20943 49753)	GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	0				ovary(2)|skin(1)	3						c.(547-549)CTC>CTG		tubulin tyrosine ligase-like family, member 4							86.0	90.0	88.0					2																	219602948		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602948C>G		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.549C>G	2.37:g.219602948C>G						TTLL4_uc010zkl.1_Silent_p.L18L|TTLL4_uc010fvx.2_Silent_p.L183L	p.L183L	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	919	+		Renal(207;0.0915)	183					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.549C>G	CCDS2422.1																																																																																				0.567	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		6	113	0	0	0	0.001168	0	6	113				
NGEF	25791	broad.mit.edu	37	2	233745891	233745891	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:233745891G>T	ENST00000264051.3	-	14	2185	c.1907C>A	c.(1906-1908)gCc>gAc	p.A636D	NGEF_ENST00000373552.4_Missense_Mutation_p.A544D|NGEF_ENST00000539537.1_Missense_Mutation_p.A359D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	636	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGATGTCGGCGAGCTCCAG	0.662																																							uc002vts.2		NA																	0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(1906-1908)GCC>GAC		neuronal guanine nucleotide exchange factor							88.0	86.0	87.0					2																	233745891		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233745891G>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1907C>A	2.37:g.233745891G>T	ENSP00000264051:p.Ala636Asp					NGEF_uc010zmm.1_Missense_Mutation_p.A359D|NGEF_uc010fyg.1_Missense_Mutation_p.A544D	p.A636D	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	14	2155	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	636			SH3.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1907C>A	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721076	0.89205	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.46063	0.88;0.88;0.88	4.65	4.65	0.58169	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	N	0.20328	0.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.59423	-0.7457	10	0.87932	D	0	-11.4661	17.1287	0.86721	0.0:0.0:1.0:0.0	.	544;636	E9PC42;Q8N5V2	.;NGEF_HUMAN	D	636;544;526;359	ENSP00000264051:A636D;ENSP00000362653:A544D;ENSP00000439035:A359D	ENSP00000264051:A636D	A	-	2	0	NGEF	233454135	1.000000	0.71417	0.936000	0.37596	0.928000	0.56348	8.716000	0.91420	2.121000	0.65114	0.462000	0.41574	GCC		0.662	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		13	73	1	0	2.61681e-11	0.00245	3.52229e-11	13	73				
UGT1A5	54579	broad.mit.edu	37	2	234622209	234622209	+	Missense_Mutation	SNP	C	C	G	rs267599272		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr2:234622209C>G	ENST00000373414.3	+	1	572	c.572C>G	c.(571-573)tCc>tGc	p.S191C	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.S191C			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	191						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CCAAACCCTTCCTCCTATATT	0.478																																							uc002vuw.2		NA																	0				skin(1)	1						c.(571-573)TCC>TGC		UDP glycosyltransferase 1 family, polypeptide A5							192.0	182.0	185.0					2																	234622209		2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234622209C>G	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.572C>G	2.37:g.234622209C>G	ENSP00000362513:p.Ser191Cys					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.S191C	p.S191C	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	572	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	191					B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.572C>G	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281667	0.23392	.	.	ENSG00000240224	ENST00000373414	T	0.62498	0.02	4.87	-1.43	0.08884	.	0.602426	0.18029	N	0.153961	T	0.67401	0.2889	M	0.66297	2.02	0.09310	N	1	P;P	0.46859	0.885;0.885	P;P	0.57548	0.823;0.823	T	0.60535	-0.7244	10	0.66056	D	0.02	.	7.0989	0.25325	0.117:0.6024:0.0:0.2806	.	191;191	Q5DSZ9;P35504	.;UD15_HUMAN	C	191	ENSP00000362513:S191C	ENSP00000362513:S191C	S	+	2	0	UGT1A5	234286948	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.511000	0.06321	-0.384000	0.07845	-1.613000	0.00800	TCC		0.478	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		14	201	0	0	0	0.001855	0	14	201				
CSNK2A1	1457	broad.mit.edu	37	20	485802	485802	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:485802T>C	ENST00000217244.3	-	4	548	c.173A>G	c.(172-174)aAc>aGc	p.N58S	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.N58S|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.N58S|CSNK2A1_ENST00000400217.2_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATTTGTGATGTTGATGGCTTC	0.313																																							uc002wdw.1		NA																	0				ovary(1)	1						c.(172-174)AAC>AGC		casein kinase II alpha 1 subunit isoform a							85.0	74.0	78.0					20																	485802		2203	4297	6500	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:485802T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.173A>G	20.37:g.485802T>C	ENSP00000217244:p.Asn58Ser					CSNK2A1_uc002wdx.1_Missense_Mutation_p.N58S|CSNK2A1_uc002wdy.1_5'UTR	p.N58S	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		4	566	-		Breast(17;0.231)	58			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.173A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134432	0.56828	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.65916	-0.18;-0.18;-0.18	4.56	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.086598	0.85682	D	0.000000	T	0.47432	0.1445	N	0.20574	0.59	0.80722	D	1	B	0.18610	0.029	B	0.14578	0.011	T	0.46400	-0.9194	10	0.51188	T	0.08	-5.4937	13.5455	0.61702	0.0:0.0:0.0:1.0	.	58	P68400	CSK21_HUMAN	S	58	ENSP00000383086:N58S;ENSP00000339247:N58S;ENSP00000217244:N58S	ENSP00000217244:N58S	N	-	2	0	CSNK2A1	433802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.050000	0.60909	0.454000	0.30748	AAC		0.313	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		5	28	0	0	0	0.001168	0	5	28				
PTPRA	5786	broad.mit.edu	37	20	3005234	3005234	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:3005234G>A	ENST00000216877.6	+	16	1954	c.1554G>A	c.(1552-1554)ggG>ggA	p.G518G	PTPRA_ENST00000425918.2_Silent_p.G538G|PTPRA_ENST00000358719.4_Silent_p.G383G|PTPRA_ENST00000380393.3_Silent_p.G527G|PTPRA_ENST00000318266.5_Silent_p.G518G|PTPRA_ENST00000399903.2_Silent_p.G527G|PTPRA_ENST00000356147.3_Silent_p.G518G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	527					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAATCCCAGGGACCAGCAACA	0.453																																							uc010zqd.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(1612-1614)GGG>GGA		protein tyrosine phosphatase, receptor type, A							115.0	118.0	117.0					20																	3005234		2203	4300	6503	SO:0001819	synonymous_variant	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3005234G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1554G>A	20.37:g.3005234G>A						PTPRA_uc002whj.2_Silent_p.G527G|PTPRA_uc002whk.2_Silent_p.G518G|PTPRA_uc002whl.2_Silent_p.G518G|PTPRA_uc002whm.2_Silent_p.G294G|PTPRA_uc002whn.2_Silent_p.G518G|PTPRA_uc002who.2_Silent_p.G190G	p.G538G	NM_002836	NP_002827	P18433	PTPRA_HUMAN			16	1931	+			527			Cytoplasmic (Potential).		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	37	c.1614G>A	CCDS13039.1																																																																																				0.453	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			7	121	0	0	0	0.001984	0	7	121				
HSPA12B	116835	broad.mit.edu	37	20	3725682	3725682	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:3725682G>C	ENST00000254963.2	+	5	545	c.400G>C	c.(400-402)Gcg>Ccg	p.A134P	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	134							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCCCGAAGAGGCGCGGGACTG	0.622																																							uc002wjd.2		NA																	0					0						c.(400-402)GCG>CCG		heat shock 70kD protein 12B							96.0	111.0	106.0					20																	3725682		2203	4300	6503	SO:0001583	missense	116835						ATP binding	g.chr20:3725682G>C	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.400G>C	20.37:g.3725682G>C	ENSP00000254963:p.Ala134Pro					HSPA12B_uc010zqi.1_Missense_Mutation_p.A134P|HSPA12B_uc002wje.2_Missense_Mutation_p.A47P|HSPA12B_uc010zqj.1_5'UTR	p.A134P	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN			5	503	+			134					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.400G>C	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228965	0.95173	.	.	ENSG00000132622	ENST00000254963;ENST00000399701	T;T	0.03580	3.88;3.88	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	M	0.70595	2.14	0.80722	D	1	D;D	0.53312	0.959;0.957	P;D	0.65684	0.888;0.937	T	0.01118	-1.1446	10	0.33141	T	0.24	-25.4788	14.895	0.70636	0.0:0.0:1.0:0.0	.	134;134	B7ZLP2;Q96MM6	.;HS12B_HUMAN	P	134;48	ENSP00000254963:A134P;ENSP00000382608:A48P	ENSP00000254963:A134P	A	+	1	0	HSPA12B	3673682	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	5.462000	0.66707	2.468000	0.83385	0.561000	0.74099	GCG		0.622	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		21	203	0	0	0	0.012319	0	21	203				
PAK7	57144	broad.mit.edu	37	20	9561232	9561232	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:9561232C>T	ENST00000378429.3	-	5	1096	c.550G>A	c.(550-552)Gag>Aag	p.E184K	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Missense_Mutation_p.E184K|PAK7_ENST00000353224.5_Missense_Mutation_p.E184K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	184	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTTCACCTCAGAATAGTAG	0.458																																							uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(550-552)GAG>AAG		p21-activated kinase 7							128.0	124.0	125.0					20																	9561232		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561232C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.550G>A	20.37:g.9561232C>T	ENSP00000367686:p.Glu184Lys					PAK7_uc002wnk.2_Missense_Mutation_p.E184K|PAK7_uc002wnj.2_Missense_Mutation_p.E184K|PAK7_uc010gby.1_Missense_Mutation_p.E184K	p.E184K	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1095	-			184			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.550G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213223	0.58452	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.41400	1.0;1.0;1.0	5.55	5.55	0.83447	.	0.280819	0.44688	D	0.000435	T	0.37839	0.1018	L	0.44542	1.39	0.58432	D	0.999997	B;B	0.27498	0.18;0.018	B;B	0.19391	0.025;0.016	T	0.10753	-1.0616	9	.	.	.	.	19.5262	0.95208	0.0:1.0:0.0:0.0	.	184;184	B0AZM9;Q9P286	.;PAK7_HUMAN	K	184;184;184;132	ENSP00000367686:E184K;ENSP00000322957:E184K;ENSP00000367679:E184K	.	E	-	1	0	PAK7	9509232	1.000000	0.71417	0.993000	0.49108	0.652000	0.38707	7.079000	0.76829	2.631000	0.89168	0.544000	0.68410	GAG		0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			12	117	0	0	0	0.001368	0	12	117				
CD93	22918	broad.mit.edu	37	20	23066051	23066051	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:23066051G>A	ENST00000246006.4	-	1	926	c.779C>T	c.(778-780)cCc>cTc	p.P260L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	260	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCATACTTGGGGCTGACACA	0.602																																							uc002wsv.2		NA																	0				large_intestine(2)	2						c.(778-780)CCC>CTC		CD93 antigen precursor							71.0	78.0	76.0					20																	23066051		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066051G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.779C>T	20.37:g.23066051G>A	ENSP00000246006:p.Pro260Leu						p.P260L	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	927	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		260			EGF-like 1.|Extracellular (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.779C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288740	0.23478	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	D	0.87412	-2.25	5.52	5.52	0.82312	.	0.511924	0.18070	N	0.152665	D	0.88145	0.6358	L	0.50333	1.59	0.22796	N	0.998726	D	0.53619	0.961	P	0.49637	0.617	T	0.82008	-0.0670	10	0.41790	T	0.15	-18.3824	17.2937	0.87164	0.0:0.0:1.0:0.0	.	260	Q9NPY3	C1QR1_HUMAN	L	260	ENSP00000246006:P260L	ENSP00000246006:P260L	P	-	2	0	CD93	23014051	0.904000	0.30761	0.096000	0.21009	0.025000	0.11179	4.188000	0.58351	2.748000	0.94277	0.655000	0.94253	CCC		0.602	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		14	172	0	0	0	0.00245	0	14	172				
EIF6	3692	broad.mit.edu	37	20	33867900	33867900	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:33867900C>G	ENST00000374450.3	-	5	655	c.391G>C	c.(391-393)Gat>Cat	p.D131H	MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.D112H|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.D131H|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|EIF6_ENST00000462894.1_5'UTR	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGAGCACATCTGCCAGAATT	0.507																																							uc002xbv.1		NA																	0				pancreas(1)	1						c.(391-393)GAT>CAT		eukaryotic translation initiation factor 6							122.0	116.0	118.0					20																	33867900		2203	4300	6503	SO:0001583	missense	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33867900C>G	Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.391G>C	20.37:g.33867900C>G	ENSP00000363574:p.Asp131His					EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.D131H|EIF6_uc002xbz.1_Missense_Mutation_p.D112H|EIF6_uc002xby.1_RNA	p.D131H	NM_181468	NP_852133	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	607	-			131						Missense_Mutation	SNP	ENST00000374450.3	37	c.391G>C	CCDS13249.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474724	0.63737	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	4.86	4.86	0.63082	.	0.099712	0.64402	D	0.000002	D	0.90508	0.7026	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.982	D	0.94131	0.7388	9	0.87932	D	0	-6.9969	15.5555	0.76189	0.0:1.0:0.0:0.0	.	112;131	B7ZBG9;P56537	.;IF6_HUMAN	H	131;112;131	.	ENSP00000363559:D131H	D	-	1	0	EIF6	33331314	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.578000	0.82498	2.447000	0.82792	0.555000	0.69702	GAT		0.507	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078848.3	NM_002212		6	172	0	0	0	0.00308	0	6	172				
EIF6	3692	broad.mit.edu	37	20	33867912	33867912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:33867912C>T	ENST00000374450.3	-	5	643	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.E108K|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.E127K|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|EIF6_ENST00000462894.1_5'UTR	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCAGAATTTCTTCTGTCTCC	0.517																																							uc002xbv.1		NA																	0				pancreas(1)	1						c.(379-381)GAA>AAA		eukaryotic translation initiation factor 6							105.0	100.0	102.0					20																	33867912		2203	4300	6503	SO:0001583	missense	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33867912C>T	Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.379G>A	20.37:g.33867912C>T	ENSP00000363574:p.Glu127Lys					EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.E127K|EIF6_uc002xbz.1_Missense_Mutation_p.E108K|EIF6_uc002xby.1_RNA	p.E127K	NM_181468	NP_852133	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	595	-			127						Missense_Mutation	SNP	ENST00000374450.3	37	c.379G>A	CCDS13249.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853776	0.51270	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	4.86	4.86	0.63082	.	0.098253	0.64402	D	0.000002	T	0.78400	0.4277	M	0.81239	2.535	0.58432	D	0.999998	D;P	0.65815	0.995;0.945	D;P	0.63877	0.919;0.605	T	0.81799	-0.0767	9	0.72032	D	0.01	-18.4085	15.5555	0.76189	0.0:1.0:0.0:0.0	.	108;127	B7ZBG9;P56537	.;IF6_HUMAN	K	127;108;127	.	ENSP00000363559:E127K	E	-	1	0	EIF6	33331326	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.578000	0.82498	2.447000	0.82792	0.555000	0.69702	GAA		0.517	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078848.3	NM_002212		6	156	0	0	0	0.001168	0	6	156				
CPNE1	8904	broad.mit.edu	37	20	34214539	34214539	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:34214539C>G	ENST00000317619.3	-	17	1817	c.1423G>C	c.(1423-1425)Gct>Cct	p.A475P	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Missense_Mutation_p.A475P|CPNE1_ENST00000397445.1_Missense_Mutation_p.A475P|CPNE1_ENST00000352393.4_Missense_Mutation_p.A475P|CPNE1_ENST00000317677.5_Missense_Mutation_p.A480P|CPNE1_ENST00000397446.1_Missense_Mutation_p.A475P			Q99829	CPNE1_HUMAN	copine I	475	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CGGGCAGCAGCCTGCCCAGAA	0.557																																							uc002xdf.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1423-1425)GCT>CCT		copine I isoform a							120.0	91.0	101.0					20																	34214539		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34214539C>G	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1423G>C	20.37:g.34214539C>G	ENSP00000326126:p.Ala475Pro					CPNE1_uc002xdc.2_Missense_Mutation_p.A137P|CPNE1_uc010zvj.1_Missense_Mutation_p.A480P|CPNE1_uc002xde.2_Missense_Mutation_p.A451P|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.A475P|CPNE1_uc002xdi.2_Missense_Mutation_p.A475P|CPNE1_uc002xdj.2_Missense_Mutation_p.A475P|CPNE1_uc002xdk.2_Missense_Mutation_p.A475P|CPNE1_uc002xdl.2_Missense_Mutation_p.A475P|CPNE1_uc002xdm.2_Missense_Mutation_p.A475P	p.A475P	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		17	1786	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		475			VWFA.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.1423G>C	CCDS13260.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.415|5.415	0.261722|0.261722	0.10239|0.10239	.|.	.|.	ENSG00000214078|ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000437340|ENST00000415920	T;T;T;T;T;T;T|.	0.22743|.	1.94;1.94;1.94;1.94;1.94;1.94;1.94|.	5.17|5.17	0.74|0.74	0.18330|0.18330	von Willebrand factor, type A (1);|.	0.303370|.	0.31507|.	U|.	0.007521|.	T|T	0.09468|0.09468	0.0233|0.0233	N|N	0.03115|0.03115	-0.41|-0.41	0.24994|0.24994	N|N	0.991518|0.991518	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.06405|.	0.002;0.0;0.002;0.001|.	T|T	0.26503|0.26503	-1.0101|-1.0101	10|5	0.18276|.	T|.	0.48|.	-12.1908|-12.1908	0.9314|0.9314	0.01336|0.01336	0.1461:0.3193:0.2606:0.274|0.1461:0.3193:0.2606:0.274	.|.	480;475;455;474|.	B0QZ18;Q99829;Q59EI4;F2Z2V0|.	.;CPNE1_HUMAN;.;.|.	P|S	475;480;475;475;475;475;474|113	ENSP00000336945:A475P;ENSP00000317257:A480P;ENSP00000326126:A475P;ENSP00000380588:A475P;ENSP00000380587:A475P;ENSP00000380585:A475P;ENSP00000415597:A474P|.	ENSP00000326126:A475P|.	A|R	-|-	1|3	0|2	CPNE1|CPNE1	33677953|33677953	0.707000|0.707000	0.27866|0.27866	0.949000|0.949000	0.38748|0.38748	0.371000|0.371000	0.29859|0.29859	0.320000|0.320000	0.19540|0.19540	0.317000|0.317000	0.23160|0.23160	-0.251000|-0.251000	0.11542|0.11542	GCT|AGG		0.557	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		4	137	0	0	0	0.009096	0	4	137				
CHD6	84181	broad.mit.edu	37	20	40054752	40054752	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:40054752C>A	ENST00000373233.3	-	28	4287	c.4110G>T	c.(4108-4110)aaG>aaT	p.K1370N		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1370					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTCATCCTTCTTTTCGCTAA	0.423																																							uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(4108-4110)AAG>AAT		chromodomain helicase DNA binding protein 6							206.0	202.0	203.0					20																	40054752		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40054752C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4110G>T	20.37:g.40054752C>A	ENSP00000362330:p.Lys1370Asn						p.K1370N	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			28	4288	-		Myeloproliferative disorder(115;0.00425)	1370					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4110G>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302921	0.40795	.	.	ENSG00000124177	ENST00000373233	T	0.79845	-1.31	5.7	4.76	0.60689	.	0.094910	0.46442	D	0.000298	T	0.68329	0.2989	N	0.21373	0.66	0.80722	D	1	B	0.18741	0.03	B	0.20577	0.03	T	0.62567	-0.6827	10	0.29301	T	0.29	-15.1847	11.7866	0.52045	0.0:0.9174:0.0:0.0826	.	1370	Q8TD26	CHD6_HUMAN	N	1370	ENSP00000362330:K1370N	ENSP00000362330:K1370N	K	-	3	2	CHD6	39488166	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.186000	0.58337	1.410000	0.46936	0.491000	0.48974	AAG		0.423	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			7	179	1	0	5.18039e-06	0.00308	6.31715e-06	7	179				
ARFGEF2	10564	broad.mit.edu	37	20	47582495	47582495	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:47582495G>C	ENST00000371917.4	+	8	994	c.994G>C	c.(994-996)Gat>Cat	p.D332H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	332					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCCAGGAGTTGATGAAAACTC	0.483																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(994-996)GAT>CAT		ADP-ribosylation factor guanine							132.0	112.0	119.0					20																	47582495		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47582495G>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.994G>C	20.37:g.47582495G>C	ENSP00000360985:p.Asp332His						p.D332H	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		8	1146	+			332					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.994G>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225485	0.39300	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.22539	1.95	5.77	5.77	0.91146	Armadillo-type fold (1);	0.678946	0.15345	N	0.267295	T	0.15176	0.0366	N	0.19112	0.55	0.32700	N	0.51298	B	0.34399	0.452	B	0.36534	0.227	T	0.11616	-1.0580	10	0.44086	T	0.13	.	8.944	0.35747	0.1242:0.0:0.8758:0.0	.	332	Q9Y6D5	BIG2_HUMAN	H	332	ENSP00000360985:D332H	ENSP00000360985:D332H	D	+	1	0	ARFGEF2	47015902	0.986000	0.35501	0.881000	0.34555	0.672000	0.39443	4.380000	0.59581	2.717000	0.92951	0.462000	0.41574	GAT		0.483	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		5	29	0	0	0	0.000602	0	5	29				
DIDO1	11083	broad.mit.edu	37	20	61512816	61512816	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:61512816C>G	ENST00000266070.4	-	16	4817	c.4492G>C	c.(4492-4494)Gaa>Caa	p.E1498Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1498Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1498					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)					CTGAGAGCTTCTTCTTGCTCC	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(4492-4494)GAA>CAA		death inducer-obliterator 1 isoform c							94.0	92.0	93.0					20																	61512816		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512816C>G	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.4492G>C	20.37:g.61512816C>G	ENSP00000266070:p.Glu1498Gln					DIDO1_uc002yds.1_Missense_Mutation_p.E1498Q	p.E1498Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4756	-	Breast(26;5.68e-08)		1498					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.4492G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777855	0.90195	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.14266	2.52;2.52	5.8	5.8	0.92144	.	0.155347	0.29376	N	0.012339	T	0.23492	0.0568	M	0.77616	2.38	0.80722	D	1	P	0.37441	0.595	B	0.34931	0.192	T	0.03086	-1.1074	10	0.66056	D	0.02	-22.4066	20.063	0.97692	0.0:1.0:0.0:0.0	.	1498	Q9BTC0	DIDO1_HUMAN	Q	1498	ENSP00000266070:E1498Q;ENSP00000378752:E1498Q	ENSP00000266070:E1498Q	E	-	1	0	DIDO1	60983261	0.997000	0.39634	0.043000	0.18650	0.787000	0.44495	5.743000	0.68655	2.735000	0.93741	0.655000	0.94253	GAA		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	124	0	0	0	0.000602	0	4	124				
KRTAP26-1	388818	broad.mit.edu	37	21	31691969	31691969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr21:31691969G>T	ENST00000360542.3	-	1	638	c.385C>A	c.(385-387)Ctc>Atc	p.L129I		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	129						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TAACTATTGAGCAGCGGCCTC	0.537																																							uc002ynw.2		NA																	0				ovary(1)	1						c.(385-387)CTC>ATC		keratin associated protein 26-1							132.0	134.0	134.0					21																	31691969		2203	4300	6503	SO:0001583	missense	388818					intermediate filament		g.chr21:31691969G>T	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.385C>A	21.37:g.31691969G>T	ENSP00000353742:p.Leu129Ile						p.L129I	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			1	639	-			129					B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	c.385C>A	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	G	3.750	-0.051860	0.07362	.	.	ENSG00000197683	ENST00000360542	T	0.03212	4.01	3.95	-7.91	0.01165	.	0.920984	0.08873	U	0.881319	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45264	-0.9273	10	0.28530	T	0.3	-0.2194	0.8011	0.01075	0.2616:0.1462:0.1571:0.4351	.	129	Q6PEX3	KR261_HUMAN	I	129	ENSP00000353742:L129I	ENSP00000353742:L129I	L	-	1	0	KRTAP26-1	30613840	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.238000	0.01199	-1.921000	0.01068	-0.824000	0.03097	CTC		0.537	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		29	156	1	0	1.39806e-14	0.008361	1.93539e-14	29	156				
SOD1	6647	broad.mit.edu	37	21	33036154	33036154	+	Missense_Mutation	SNP	G	G	T	rs121912433		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr21:33036154G>T	ENST00000270142.6	+	2	272	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	SOD1_ENST00000389995.4_Missense_Mutation_p.G23C|AP000254.8_ENST00000609934.1_RNA|SNORA81_ENST00000458922.1_RNA|SOD1_ENST00000470944.1_3'UTR	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	42			G -> D (in ALS1).|G -> S (in ALS1).		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)	ACTGACTGAAGGCCTGCATGG	0.433																																							uc002ypa.2		NA																	0					0	GRCh37	CM930678	SOD1	M	rs121912433	c.(124-126)GGC>TGC		superoxide dismutase 1, soluble							251.0	213.0	226.0					21																	33036154		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.chr21:33036154G>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.124G>T	21.37:g.33036154G>T	ENSP00000270142:p.Gly42Cys					SOD1_uc002ypb.2_Missense_Mutation_p.G23C|SOD1_uc002ypc.2_RNA	p.G42C	NM_000454	NP_000445	P00441	SODC_HUMAN			2	272	+			42		G -> D (in ALS1).|G -> S (in ALS1).			A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	Missense_Mutation	SNP	ENST00000270142.6	37	c.124G>T	CCDS33536.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232673	0.58777	.	.	ENSG00000142168	ENST00000270142;ENST00000389995	D;D	0.99818	-6.92;-6.92	4.93	4.93	0.64822	Superoxide dismutase, copper/zinc binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.99894	4.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95785	0.8820	10	0.87932	D	0	-14.1361	18.6846	0.91559	0.0:0.0:1.0:0.0	.	42	P00441	SODC_HUMAN	C	42;23	ENSP00000270142:G42C;ENSP00000374645:G23C	ENSP00000270142:G42C	G	+	1	0	SOD1	31958025	1.000000	0.71417	0.989000	0.46669	0.031000	0.12232	8.978000	0.93450	2.715000	0.92844	0.650000	0.86243	GGC		0.433	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192585.2	NM_000454		15	80	1	0	2.48551e-13	0.00499	3.40444e-13	15	80				
PFKL	5211	broad.mit.edu	37	21	45741720	45741720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr21:45741720G>T	ENST00000349048.4	+	13	1355	c.1300G>T	c.(1300-1302)Gtg>Ttg	p.V434L	PFKL_ENST00000403390.1_Missense_Mutation_p.V481L	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	434	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CACAGTATACGTGGTGCACGA	0.647																																							uc002zel.2		NA																	0					0						c.(1300-1302)GTG>TTG		liver phosphofructokinase							97.0	95.0	96.0					21																	45741720		2202	4300	6502	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45741720G>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1300G>T	21.37:g.45741720G>T	ENSP00000269848:p.Val434Leu					PFKL_uc002zek.2_Missense_Mutation_p.V481L|PFKL_uc002zem.2_Missense_Mutation_p.V21L|PFKL_uc002zen.2_Missense_Mutation_p.V21L	p.V434L	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	13	1359	+			434					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.1300G>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528667	0.27387	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.80033	-1.33;-1.33	4.3	2.4	0.29515	Phosphofructokinase domain (2);	0.525510	0.19440	N	0.114218	T	0.69504	0.3118	L	0.31664	0.95	0.24419	N	0.994625	B;B	0.24368	0.041;0.102	B;B	0.28784	0.027;0.094	T	0.62877	-0.6761	10	0.62326	D	0.03	-30.5854	8.6613	0.34095	0.2689:0.0:0.7311:0.0	.	434;481	P17858;P17858-2	K6PL_HUMAN;.	L	434;227;481	ENSP00000269848:V434L;ENSP00000384038:V481L	ENSP00000269848:V434L	V	+	1	0	PFKL	44566148	0.983000	0.35010	0.094000	0.20943	0.066000	0.16364	3.522000	0.53480	0.741000	0.32674	0.462000	0.41574	GTG		0.647	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			19	85	1	0	5.03518e-11	0.007413	6.75409e-11	19	85				
TCF20	6942	broad.mit.edu	37	22	42605678	42605678	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr22:42605678C>A	ENST00000359486.3	-	1	5770	c.5634G>T	c.(5632-5634)gcG>gcT	p.A1878A	TCF20_ENST00000335626.4_Silent_p.A1878A|TCF20_ENST00000404876.1_Silent_p.A179A	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1878					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTATTTCCAGCGCTTCCTGCA	0.433																																							uc003bcj.1		NA																	0				ovary(4)|skin(1)	5						c.(5632-5634)GCG>GCT		transcription factor 20 isoform 1							91.0	98.0	96.0					22																	42605678		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605678C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5634G>T	22.37:g.42605678C>A						TCF20_uc003bck.1_Silent_p.A1878A|TCF20_uc003bnt.2_Silent_p.A1878A	p.A1878A	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	5768	-			1878					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.5634G>T	CCDS14033.1																																																																																				0.433	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		5	116	1	0	3.59834e-05	0.001168	4.24167e-05	5	116				
EFCAB6	64800	broad.mit.edu	37	22	44178131	44178131	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr22:44178131G>C	ENST00000262726.7	-	3	321	c.68C>G	c.(67-69)tCa>tGa	p.S23*	EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGGGGTCTTGAATGTGTAAA	0.373																																							uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(67-69)TCA>TGA		CAP-binding protein complex interacting protein							230.0	210.0	217.0					22																	44178131		2203	4300	6503	SO:0001587	stop_gained	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44178131G>C	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.68C>G	22.37:g.44178131G>C	ENSP00000262726:p.Ser23*					EFCAB6_uc003bdz.1_Intron|EFCAB6_uc010gzi.1_5'UTR|EFCAB6_uc011aqa.1_5'UTR|EFCAB6_uc003bea.1_Nonsense_Mutation_p.S20*|EFCAB6_uc003beb.3_5'UTR	p.S23*	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			3	283	-		Ovarian(80;0.0247)|all_neural(38;0.025)	23					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	ENST00000262726.7	37	c.68C>G	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550783	0.65311	.	.	ENSG00000186976	ENST00000262726	.	.	.	4.47	-1.75	0.08031	.	0.686315	0.11750	N	0.533105	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	0.0398	5.5411	0.17038	0.2986:0.1702:0.5312:0.0	.	.	.	.	X	23	.	ENSP00000262726:S23X	S	-	2	0	EFCAB6	42509464	0.001000	0.12720	0.000000	0.03702	0.359000	0.29487	0.431000	0.21444	-0.069000	0.12931	0.655000	0.94253	TCA		0.373	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		4	57	0	0	0	0.009096	0	4	57				
FGD5	152273	broad.mit.edu	37	3	14862303	14862303	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:14862303G>A	ENST00000285046.5	+	1	1835	c.1725G>A	c.(1723-1725)agG>agA	p.R575R	FGD5_ENST00000543601.1_Silent_p.R334R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	575					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATGACCACAGGATAAAGAGGA	0.557																																							uc003bzc.2		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1723-1725)AGG>AGA		FYVE, RhoGEF and PH domain containing 5							37.0	38.0	38.0					3																	14862303		1947	4149	6096	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862303G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1725G>A	3.37:g.14862303G>A						FGD5_uc011avk.1_Silent_p.R575R	p.R575R	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1835	+			575					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1725G>A	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		4	36	0	0	0	0.009096	0	4	36				
CACNA2D3	55799	broad.mit.edu	37	3	54905639	54905639	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:54905639G>A	ENST00000474759.1	+	18	1748	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R567Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R567Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R473Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	567						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGGGAAGACCGAGATGACGTG	0.493																																							uc003dhf.2		NA																	0				large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1699-1701)CGA>CAA		calcium channel, voltage-dependent, alpha							177.0	175.0	176.0					3																	54905639		1968	4148	6116	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54905639G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1700G>A	3.37:g.54905639G>A	ENSP00000419101:p.Arg567Gln					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R473Q|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R301Q	p.R567Q	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	18	1748	+			567			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1700G>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440877	0.25900	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.08282	3.11;3.11;3.11;3.12	5.44	5.44	0.79542	.	0.117593	0.56097	N	0.000030	T	0.03915	0.0110	N	0.02111	-0.68	0.36268	D	0.854982	B	0.17667	0.023	B	0.08055	0.003	T	0.47446	-0.9117	10	0.15952	T	0.53	-7.5501	17.4519	0.87594	0.0:0.0:1.0:0.0	.	567	Q8IZS8	CA2D3_HUMAN	Q	567;567;567;473;473;466	ENSP00000389506:R567Q;ENSP00000419101:R567Q;ENSP00000288197:R567Q;ENSP00000417279:R473Q	ENSP00000288197:R567Q	R	+	2	0	CACNA2D3	54880679	1.000000	0.71417	0.989000	0.46669	0.961000	0.63080	4.052000	0.57420	2.565000	0.86533	0.563000	0.77884	CGA		0.493	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			4	47	0	0	0	0.001168	0	4	47				
FAM19A1	407738	broad.mit.edu	37	3	68587954	68587954	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:68587954G>C	ENST00000478136.1	+	4	797	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	FAM19A1_ENST00000496687.1_Missense_Mutation_p.E103Q	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	103						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCTTGCCTAGAAGGAGAAGA	0.438																																							uc003dnd.2		NA																	0				ovary(1)	1						c.(307-309)GAA>CAA		family with sequence similarity 19 (chemokine							151.0	148.0	149.0					3																	68587954		1975	4168	6143	SO:0001583	missense	407738					endoplasmic reticulum|extracellular region		g.chr3:68587954G>C	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.307G>C	3.37:g.68587954G>C	ENSP00000418575:p.Glu103Gln					FAM19A1_uc003dne.2_Missense_Mutation_p.E103Q|FAM19A1_uc003dng.2_Missense_Mutation_p.E103Q	p.E103Q	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	4	523	+		Lung NSC(201;0.0117)	103					A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	c.307G>C	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321833	0.81580	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.23	4.35	0.52113	.	0.046228	0.85682	D	0.000000	T	0.67363	0.2885	L	0.52573	1.65	0.39663	D	0.970633	D	0.59767	0.986	P	0.61328	0.887	T	0.71517	-0.4569	9	0.59425	D	0.04	.	13.9658	0.64207	0.0738:0.0:0.9262:0.0	.	103	Q7Z5A9	F19A1_HUMAN	Q	103	.	ENSP00000418575:E103Q	E	+	1	0	FAM19A1	68670644	1.000000	0.71417	0.945000	0.38365	0.939000	0.58152	9.690000	0.98676	1.317000	0.45149	0.650000	0.86243	GAA		0.438	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		7	48	0	0	0	0.00308	0	7	48				
EPHA3	2042	broad.mit.edu	37	3	89259011	89259011	+	Splice_Site	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:89259011G>A	ENST00000336596.2	+	3	380	c.155G>A	c.(154-156)tGg>tAg	p.W52*	EPHA3_ENST00000452448.2_Splice_Site_p.W52*|EPHA3_ENST00000494014.1_Splice_Site_p.W52*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	52	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATTCTTCAGTGGGAAGAGATC	0.398										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(154-156)TGG>TAG		ephrin receptor EphA3 isoform a precursor							40.0	40.0	40.0					3																	89259011		2203	4300	6503	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259011G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.154-1G>A	3.37:g.89259011G>A		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Nonsense_Mutation_p.W52*|EPHA3_uc010hon.1_RNA	p.W52*	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	380	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	52			Extracellular (Potential).		Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.155G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586088	0.96578	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0502	0.93039	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	.	W	+	2	0	EPHA3	89341701	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.496000	0.84212	0.563000	0.77884	TGG		0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Nonsense_Mutation	6	18	0	0	0	0.001168	0	6	18				
EPHA3	2042	broad.mit.edu	37	3	89521758	89521758	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:89521758G>C	ENST00000336596.2	+	16	3060	c.2835G>C	c.(2833-2835)aaG>aaC	p.K945N	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	945	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAATAGCCAAGATTTCCACAG	0.408										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2833-2835)AAG>AAC		ephrin receptor EphA3 isoform a precursor							71.0	68.0	69.0					3																	89521758		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89521758G>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2835G>C	3.37:g.89521758G>C	ENSP00000337451:p.Lys945Asn	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.K945N	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	16	3060	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	945			Cytoplasmic (Potential).|SAM.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2835G>C	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896598	0.52121	.	.	ENSG00000044524	ENST00000336596	D	0.84298	-1.83	5.61	3.81	0.43845	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86988	0.2108	9	.	.	.	.	8.9845	0.35986	0.2221:0.0:0.7779:0.0	.	945	P29320	EPHA3_HUMAN	N	945	ENSP00000337451:K945N	.	K	+	3	2	EPHA3	89604448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.582000	0.53921	1.354000	0.45846	0.655000	0.94253	AAG		0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		6	66	0	0	0	0.001168	0	6	66				
SEMA5B	54437	broad.mit.edu	37	3	122632712	122632712	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:122632712C>T	ENST00000357599.3	-	15	2511	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E763K|SEMA5B_ENST00000195173.4_Missense_Mutation_p.E709K	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	709	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACCGTTCCTCCCGGCTCTTG	0.662																																							uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2125-2127)GAG>AAG		semaphorin 5B isoform 1							53.0	56.0	55.0					3																	122632712		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122632712C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2125G>A	3.37:g.122632712C>T	ENSP00000350215:p.Glu709Lys					SEMA5B_uc011bju.1_Missense_Mutation_p.E651K|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E709K|SEMA5B_uc010hro.1_Missense_Mutation_p.E651K|SEMA5B_uc003efy.1_5'Flank	p.E709K	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	15	2429	-			709			Extracellular (Potential).|TSP type-1 1.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2125G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400907	0.96030	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.02	5.02	0.67125	.	0.048838	0.85682	D	0.000000	T	0.45256	0.1333	M	0.63169	1.94	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.79108	0.986;0.992;0.992	T	0.37430	-0.9706	10	0.66056	D	0.02	.	17.513	0.87765	0.0:1.0:0.0:0.0	.	651;709;709	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	K	709;709;651;763;709	ENSP00000350215:E709K;ENSP00000195173:E709K;ENSP00000389588:E763K;ENSP00000377208:E709K	ENSP00000195173:E709K	E	-	1	0	SEMA5B	124115402	1.000000	0.71417	0.993000	0.49108	0.790000	0.44656	7.633000	0.83260	2.614000	0.88457	0.555000	0.69702	GAG		0.662	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		8	95	0	0	0	0.008291	0	8	95				
CCDC37	348807	broad.mit.edu	37	3	126138534	126138534	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:126138534C>G	ENST00000352312.1	+	9	885	c.786C>G	c.(784-786)ttC>ttG	p.F262L	CCDC37_ENST00000505024.1_Missense_Mutation_p.F263L|CCDC37_ENST00000393425.1_Missense_Mutation_p.F263L	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	262										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ATAAGGATTTCCTATACAAGC	0.502																																							uc003eiu.1		NA																	0				ovary(1)|skin(1)	2						c.(784-786)TTC>TTG		coiled-coil domain containing 37							75.0	77.0	77.0					3																	126138534		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126138534C>G	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.786C>G	3.37:g.126138534C>G	ENSP00000344749:p.Phe262Leu					CCDC37_uc010hsg.1_Missense_Mutation_p.F263L	p.F262L	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	9	885	+			262					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.786C>G	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696784	0.68386	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.27402	1.67;1.67;1.67	4.47	3.6	0.41247	.	0.111391	0.64402	D	0.000008	T	0.59128	0.2171	M	0.90542	3.125	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.64676	-0.6351	10	0.66056	D	0.02	-23.0346	9.8785	0.41218	0.0:0.9001:0.0:0.0999	.	263;262	Q494V2-2;Q494V2	.;CCD37_HUMAN	L	262;263;263	ENSP00000344749:F262L;ENSP00000377076:F263L;ENSP00000423046:F263L	ENSP00000344749:F262L	F	+	3	2	CCDC37	127621224	1.000000	0.71417	0.995000	0.50966	0.879000	0.50718	0.666000	0.25097	1.103000	0.41568	0.467000	0.42956	TTC		0.502	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		4	84	0	0	0	0.000602	0	4	84				
MGLL	11343	broad.mit.edu	37	3	127439934	127439934	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:127439934G>A	ENST00000434178.2	-	5	1338	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	MGLL_ENST00000453507.2_Silent_p.L158L|MGLL_ENST00000398101.3_Silent_p.L122L|MGLL_ENST00000265052.5_Silent_p.L158L|MGLL_ENST00000398104.1_Silent_p.L148L			Q99685	MGLL_HUMAN	monoglyceride lipase	148					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)	p.L148L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCAAGAACCAGAGGCGAAATG	0.552																																							uc003ejx.2		NA																	1	Substitution - coding silent(1)		cervix(1)		0						c.(442-444)CTG>TTG		monoglyceride lipase isoform 2							73.0	78.0	76.0					3																	127439934		1955	4153	6108	SO:0001819	synonymous_variant	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127439934G>A	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.442C>T	3.37:g.127439934G>A						MGLL_uc003ejw.2_Silent_p.L158L|MGLL_uc011bko.1_Silent_p.L158L|MGLL_uc010hsp.1_Silent_p.L148L|MGLL_uc003ejv.2_Silent_p.L122L	p.L148L	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN			5	587	-			148					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Silent	SNP	ENST00000434178.2	37	c.442C>T	CCDS43148.1																																																																																				0.552	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		6	48	0	0	0	0.001984	0	6	48				
RUVBL1	8607	broad.mit.edu	37	3	127817729	127817729	+	Missense_Mutation	SNP	G	G	C	rs375981397		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:127817729G>C	ENST00000322623.5	-	7	912	c.813C>G	c.(811-813)atC>atG	p.I271M	RUVBL1_ENST00000417360.1_Missense_Mutation_p.I271M|RUVBL1_ENST00000464873.1_Missense_Mutation_p.I211M	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	271					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TCCTACCTGTGATTTCTGTCT	0.547																																							uc003ekh.2		NA																	0				skin(1)	1						c.(811-813)ATC>ATG		RuvB-like 1							153.0	126.0	135.0					3																	127817729		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127817729G>C	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.813C>G	3.37:g.127817729G>C	ENSP00000318297:p.Ile271Met					RUVBL1_uc003eke.2_Missense_Mutation_p.I12M|RUVBL1_uc003ekf.2_Missense_Mutation_p.I211M|RUVBL1_uc010hss.2_Missense_Mutation_p.I271M	p.I271M	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	7	917	-			271					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.813C>G	CCDS3047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.82|14.82	2.648210|2.648210	0.47258|0.47258	.|.	.|.	ENSG00000175792|ENSG00000175792	ENST00000472125|ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892	.|T;T;T	.|0.75050	.|-0.81;-0.9;-0.45	5.81|5.81	3.05|3.05	0.35203|0.35203	.|TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81602|0.81602	0.4857|0.4857	M|M	0.82193|0.82193	2.58|2.58	0.58432|0.58432	D|D	0.999999|0.999999	.|B;P;B;B	.|0.41784	.|0.099;0.762;0.021;0.228	.|B;P;B;B	.|0.51974	.|0.064;0.686;0.053;0.331	T|T	0.82188|0.82188	-0.0581|-0.0581	5|10	.|0.87932	.|D	.|0	-16.4035|-16.4035	9.4392|9.4392	0.38657|0.38657	0.3534:0.0:0.6466:0.0|0.3534:0.0:0.6466:0.0	.|.	.|271;271;211;211	.|Q9Y265-2;Q9Y265;E7ETR0;B3KRS7	.|.;RUVB1_HUMAN;.;.	D|M	91|211;271;271;70	.|ENSP00000420738:I211M;ENSP00000318297:I271M;ENSP00000393755:I271M	.|ENSP00000318297:I271M	H|I	-|-	1|3	0|3	RUVBL1|RUVBL1	129300419|129300419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	3.498000|3.498000	0.53302|0.53302	0.814000|0.814000	0.34374|0.34374	-0.229000|-0.229000	0.12294|0.12294	CAC|ATC		0.547	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			3	65	0	0	0	0.004672	0	3	65				
IFT122	55764	broad.mit.edu	37	3	129211017	129211017	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:129211017G>C	ENST00000348417.2	+	17	2103	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	IFT122_ENST00000504021.1_Intron|IFT122_ENST00000296266.3_Missense_Mutation_p.E727Q|IFT122_ENST00000347300.2_Missense_Mutation_p.E617Q|IFT122_ENST00000431818.2_Missense_Mutation_p.E526Q|IFT122_ENST00000349441.2_Missense_Mutation_p.E565Q|IFT122_ENST00000507564.1_Missense_Mutation_p.E668Q|IFT122_ENST00000440957.2_Missense_Mutation_p.E467Q	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	676					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.E727Q(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCGATATTTAGAGCTCATCAG	0.438																																							uc003emm.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)|skin(1)	2						c.(2026-2028)GAG>CAG		WD repeat domain 10 isoform 2							166.0	178.0	174.0					3																	129211017		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129211017G>C	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2026G>C	3.37:g.129211017G>C	ENSP00000324005:p.Glu676Gln					IFT122_uc003eml.2_Missense_Mutation_p.E727Q|IFT122_uc003emn.2_Missense_Mutation_p.E617Q|IFT122_uc003emo.2_Missense_Mutation_p.E565Q|IFT122_uc003emp.2_Missense_Mutation_p.E526Q|IFT122_uc010htc.2_Missense_Mutation_p.E668Q|IFT122_uc011bky.1_Missense_Mutation_p.E467Q|IFT122_uc003emq.2_Missense_Mutation_p.E516Q|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Missense_Mutation_p.E56Q|IFT122_uc003ems.2_Intron|IFT122_uc011bkx.1_Missense_Mutation_p.E516Q|IFT122_uc010htd.1_Missense_Mutation_p.E155Q	p.E676Q	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			17	2232	+			676					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2026G>C	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583318	0.65992	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.62	5.62	0.85841	.	0.217997	0.43110	D	0.000615	D	0.87297	0.6142	L	0.53561	1.675	0.80722	D	1	D;B;B;B;B;B;P;D	0.53619	0.961;0.042;0.064;0.196;0.027;0.296;0.935;0.961	P;B;B;B;B;B;P;P	0.54590	0.691;0.041;0.009;0.072;0.033;0.152;0.575;0.756	D	0.87005	0.2119	10	0.51188	T	0.08	-26.4747	19.666	0.95893	0.0:0.0:1.0:0.0	.	467;56;668;516;565;617;676;727	E9PDG2;B3KUD1;E7EQF4;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	Q	617;727;668;617;526;565;676;516;467	ENSP00000323973:E617Q;ENSP00000296266:E727Q;ENSP00000425536:E668Q;ENSP00000410946:E526Q;ENSP00000324165:E565Q;ENSP00000324005:E676Q;ENSP00000401569:E467Q	ENSP00000296266:E727Q	E	+	1	0	IFT122	130693707	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.525000	0.98039	2.632000	0.89209	0.555000	0.69702	GAG		0.438	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		9	135	0	0	0	0.006214	0	9	135				
CPNE4	131034	broad.mit.edu	37	3	131388587	131388587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:131388587G>A	ENST00000512055.1	-	11	2739	c.613C>T	c.(613-615)Cca>Tca	p.P205S	CPNE4_ENST00000511604.1_Missense_Mutation_p.P205S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P223S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P205S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P223S			Q96A23	CPNE4_HUMAN	copine IV	205	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCCAGGCTGGGCTTAAGTTA	0.428																																							uc003eok.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(613-615)CCA>TCA		copine IV							73.0	80.0	78.0					3																	131388587		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131388587G>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.613C>T	3.37:g.131388587G>A	ENSP00000421705:p.Pro205Ser					CPNE4_uc011blq.1_Missense_Mutation_p.P223S|CPNE4_uc003eol.2_Missense_Mutation_p.P223S|CPNE4_uc003eom.2_Missense_Mutation_p.P205S	p.P205S	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			7	1048	-			205			C2 2.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.613C>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508796	0.85282	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.66	5.66	0.87406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	H	0.99347	4.525	0.80722	D	1	D;D	0.71674	0.987;0.998	D;D	0.76575	0.917;0.988	D	0.96462	0.9342	10	0.87932	D	0	-13.2562	16.6772	0.85282	0.0:0.0:1.0:0.0	.	223;205	Q96A23-2;Q96A23	.;CPNE4_HUMAN	S	205;205;223;205;223	ENSP00000421705:P205S;ENSP00000411904:P205S;ENSP00000424853:P223S;ENSP00000423811:P205S;ENSP00000421646:P223S	ENSP00000411904:P205S	P	-	1	0	CPNE4	132871277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.211000	0.77933	2.675000	0.91044	0.655000	0.94253	CCA		0.428	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		6	80	0	0	0	0.001168	0	6	80				
MRPS22	56945	broad.mit.edu	37	3	139065737	139065737	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:139065737G>C	ENST00000495075.1	+	4	622	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	RP11-219D15.3_ENST00000608472.1_RNA|MRPS22_ENST00000478464.1_Missense_Mutation_p.E23Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E64Q|MRPS22_ENST00000465056.1_Missense_Mutation_p.E63Q			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	64						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGTAGCCCAGAGACCAAGAA	0.363																																							uc003etb.2		NA																	0				ovary(2)|skin(1)	3						c.(190-192)GAG>CAG		mitochondrial ribosomal protein S22							74.0	73.0	73.0					3																	139065737		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139065737G>C	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.190G>C	3.37:g.139065737G>C	ENSP00000418008:p.Glu64Gln					MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.E63Q|MRPS22_uc003ete.2_Missense_Mutation_p.E23Q	p.E64Q	NM_020191	NP_064576	P82650	RT22_HUMAN			2	198	+			64					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.190G>C	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	8.360	0.832977	0.16820	.	.	ENSG00000175110	ENST00000495075;ENST00000495225;ENST00000310776;ENST00000465056;ENST00000465373;ENST00000478464	D;D;D;T;D	0.83992	-1.75;-1.75;-1.76;-1.21;-1.79	5.42	0.517	0.17025	.	0.781707	0.12529	N	0.460986	T	0.74038	0.3664	L	0.55481	1.735	0.09310	N	1	B;B;B	0.12630	0.003;0.006;0.003	B;B;B	0.12837	0.003;0.008;0.004	T	0.55186	-0.8180	10	0.17369	T	0.5	0.2576	5.9624	0.19307	0.3689:0.1252:0.5058:0.0	.	23;63;64	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	Q	64;34;64;63;69;23	ENSP00000418008:E64Q;ENSP00000310785:E64Q;ENSP00000418233:E63Q;ENSP00000419920:E69Q;ENSP00000419303:E23Q	ENSP00000310785:E64Q	E	+	1	0	MRPS22	140548427	0.000000	0.05858	0.001000	0.08648	0.756000	0.42949	-0.401000	0.07232	-0.198000	0.10333	0.591000	0.81541	GAG		0.363	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		4	44	0	0	0	0.009096	0	4	44				
SI	6476	broad.mit.edu	37	3	164757724	164757724	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:164757724G>C	ENST00000264382.3	-	19	2257	c.2195C>G	c.(2194-2196)aCt>aGt	p.T732S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	732	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.T732N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAAAAACTCAGTGTCCTCAAT	0.333										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2194-2196)ACT>AGT		sucrase-isomaltase	Acarbose(DB00284)						123.0	128.0	126.0					3																	164757724		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757724G>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2195C>G	3.37:g.164757724G>C	ENSP00000264382:p.Thr732Ser	HNSCC(35;0.089)					p.T732S	NM_001041	NP_001032	P14410	SUIS_HUMAN			19	2257	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	732			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2195C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	4.795	0.147901	0.09134	.	.	ENSG00000090402	ENST00000264382	D	0.91180	-2.8	4.81	-4.6	0.03390	.	1.343150	0.04552	N	0.390150	D	0.83115	0.5184	L	0.45137	1.4	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.64867	-0.6306	10	0.27785	T	0.31	.	3.1179	0.06381	0.4071:0.2692:0.2371:0.0867	.	732	P14410	SUIS_HUMAN	S	732	ENSP00000264382:T732S	ENSP00000264382:T732S	T	-	2	0	SI	166240418	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-0.044000	0.12023	-0.852000	0.04141	-1.247000	0.01520	ACT		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	102	0	0	0	0.001984	0	7	102				
SI	6476	broad.mit.edu	37	3	164786563	164786563	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:164786563T>G	ENST00000264382.3	-	5	492	c.430A>C	c.(430-432)Aac>Cac	p.N144H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	144	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGAACACTGTTGATGTCATTT	0.343										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(430-432)AAC>CAC		sucrase-isomaltase	Acarbose(DB00284)						132.0	135.0	134.0					3																	164786563		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786563T>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.430A>C	3.37:g.164786563T>G	ENSP00000264382:p.Asn144His	HNSCC(35;0.089)					p.N144H	NM_001041	NP_001032	P14410	SUIS_HUMAN			5	492	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	144			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.430A>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	5.010	0.187492	0.09547	.	.	ENSG00000090402	ENST00000264382	D	0.85861	-2.04	5.67	0.479	0.16796	Glycoside hydrolase-type carbohydrate-binding (1);	0.609212	0.19429	N	0.114489	T	0.79997	0.4543	M	0.64997	1.995	0.09310	N	1	B	0.29212	0.237	B	0.31946	0.138	T	0.69101	-0.5234	10	0.45353	T	0.12	.	6.0987	0.20035	0.0:0.3067:0.233:0.4603	.	144	P14410	SUIS_HUMAN	H	144	ENSP00000264382:N144H	ENSP00000264382:N144H	N	-	1	0	SI	166269257	0.000000	0.05858	0.028000	0.17463	0.001000	0.01503	-0.295000	0.08298	0.141000	0.18875	-0.376000	0.06991	AAC		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	63	0	0	0	0.009096	0	3	63				
PIK3CA	5290	broad.mit.edu	37	3	178916873	178916873	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:178916873G>C	ENST00000263967.3	+	2	417	c.260G>C	c.(259-261)aGa>aCa	p.R87T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	87	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GATGAAACAAGACGACTTTGT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(259-261)AGA>ACA		phosphoinositide-3-kinase, catalytic, alpha							109.0	104.0	105.0					3																	178916873		1823	4080	5903	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916873G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.260G>C	3.37:g.178916873G>C	ENSP00000263967:p.Arg87Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R87T	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	417	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		87			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.260G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366515	0.82463	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76060	-0.99;-0.99	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.87087	0.6090	M	0.82323	2.585	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	D	0.87449	0.2400	9	.	.	.	-9.461	19.2635	0.93977	0.0:0.0:1.0:0.0	.	87	P42336	PK3CA_HUMAN	T	87	ENSP00000263967:R87T;ENSP00000417479:R87T	.	R	+	2	0	PIK3CA	180399567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	AGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	63	0	0	0	0.009096	0	4	63				
ATP13A5	344905	broad.mit.edu	37	3	193068888	193068888	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:193068888A>T	ENST00000342358.4	-	7	826	c.709T>A	c.(709-711)Tcc>Acc	p.S237T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	237						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGACAATGGAGATAACAGTC	0.388																																							uc011bsq.1		NA																	0				ovary(5)|skin(4)|large_intestine(2)	11						c.(709-711)TCC>ACC		ATPase type 13A5							110.0	101.0	104.0					3																	193068888		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193068888A>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.709T>A	3.37:g.193068888A>T	ENSP00000341942:p.Ser237Thr						p.S237T	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	7	709	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		237			Helical; (Potential).		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.709T>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048411	0.75846	.	.	ENSG00000187527	ENST00000342358	D	0.88818	-2.43	4.66	4.66	0.58398	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.102443	0.44097	D	0.000497	D	0.95040	0.8394	M	0.91561	3.22	0.38760	D	0.954313	D	0.89917	1.0	D	0.85130	0.997	D	0.95999	0.8992	10	0.51188	T	0.08	-6.8947	12.3639	0.55219	1.0:0.0:0.0:0.0	.	237	Q4VNC0	AT135_HUMAN	T	237	ENSP00000341942:S237T	ENSP00000341942:S237T	S	-	1	0	ATP13A5	194551582	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.517000	0.73759	1.884000	0.54569	0.533000	0.62120	TCC		0.388	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		5	22	0	0	0	0.000602	0	5	22				
MUC4	4585	broad.mit.edu	37	3	195516290	195516290	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195516290C>G	ENST00000463781.3	-	2	2620	c.2161G>C	c.(2161-2163)Gat>Cat	p.D721H	MUC4_ENST00000475231.1_Missense_Mutation_p.D721H|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	726			A -> T (in dbSNP:rs3749331).		cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGTGGCATCATGGCTGCTG	0.612																																							uc011bto.1		NA																	0					0						c.(2161-2163)GAT>CAT		mucin 4 isoform a							98.0	111.0	107.0					3																	195516290		2123	4250	6373	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516290C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2161G>C	3.37:g.195516290C>G	ENSP00000417498:p.Asp721His					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.D603H	p.D721H	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2621	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	726					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2161G>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.713	-0.268446	0.05716	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.53640	0.61;0.63	2.59	-0.475	0.12104	.	5.619230	0.00166	N	0.000005	T	0.32285	0.0824	L	0.39898	1.24	0.09310	N	1	P;P	0.41978	0.465;0.767	B;B	0.33846	0.166;0.171	T	0.16070	-1.0415	10	0.14252	T	0.57	-0.0767	4.6548	0.12611	0.0:0.4087:0.45:0.1413	.	721;726	E7ESK3;Q99102	.;MUC4_HUMAN	H	721;721;695	ENSP00000417498:D721H;ENSP00000420243:D721H	ENSP00000376209:D695H	D	-	1	0	MUC4	197000685	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.116000	0.11893	-0.209000	0.12711	GAT		0.612	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		7	142	0	0	0	0.00308	0	7	142				
MUC4	4585	broad.mit.edu	37	3	195516684	195516684	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195516684C>T	ENST00000463781.3	-	2	2226	c.1767G>A	c.(1765-1767)atG>atA	p.M589I	MUC4_ENST00000475231.1_Missense_Mutation_p.M589I|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	594					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCGTTTTTATCATCTGAGTCA	0.478																																							uc011bto.1		NA																	0					0						c.(1765-1767)ATG>ATA		mucin 4 isoform a							431.0	409.0	416.0					3																	195516684		2029	4198	6227	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516684C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1767G>A	3.37:g.195516684C>T	ENSP00000417498:p.Met589Ile					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.M471I	p.M589I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2227	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	594					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1767G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.575	-0.298806	0.05532	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.38887	1.11;1.12	1.56	-2.75	0.05914	.	.	.	.	.	T	0.21550	0.0519	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.013;0.003	B;B	0.08055	0.003;0.001	T	0.20207	-1.0282	9	0.21540	T	0.41	.	4.0604	0.09836	0.2103:0.4966:0.293:0.0	.	589;594	E7ESK3;Q99102	.;MUC4_HUMAN	I	589;589;563	ENSP00000417498:M589I;ENSP00000420243:M589I	ENSP00000376209:M563I	M	-	3	0	MUC4	197001079	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.966000	0.03825	-0.733000	0.04850	0.274000	0.19336	ATG		0.478	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		24	338	0	0	0	0.004656	0	24	338				
MUC4	4585	broad.mit.edu	37	3	195516687	195516687	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195516687C>T	ENST00000463781.3	-	2	2223	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	MUC4_ENST00000475231.1_Silent_p.Q588Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	593					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTTTTATCATCTGAGTCACAC	0.488																																							uc011bto.1		NA																	0					0						c.(1762-1764)CAG>CAA		mucin 4 isoform a							425.0	403.0	410.0					3																	195516687		2028	4194	6222	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516687C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1764G>A	3.37:g.195516687C>T						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.Q470Q	p.Q588Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2224	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	593					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.1764G>A	CCDS54700.1																																																																																				0.488	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		25	335	0	0	0	0.005443	0	25	335				
MUC4	4585	broad.mit.edu	37	3	195518150	195518150	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195518150G>C	ENST00000463781.3	-	2	760	c.301C>G	c.(301-303)Ctt>Gtt	p.L101V	MUC4_ENST00000475231.1_Missense_Mutation_p.L101V|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	101					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGAAAAAAGAGTTGATGTC	0.478																																							uc011bto.1		NA																	0					0						c.(301-303)CTT>GTT		mucin 4 isoform a							229.0	213.0	219.0					3																	195518150		2033	4176	6209	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195518150G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.301C>G	3.37:g.195518150G>C	ENSP00000417498:p.Leu101Val					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_5'Flank	p.L101V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	761	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	101					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.301C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.238	-0.155962	0.06544	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.51071	0.72;0.75	3.56	-3.64	0.04515	.	1.520220	0.04461	N	0.374483	T	0.21550	0.0519	N	0.19112	0.55	0.09310	N	1	P	0.37864	0.61	B	0.31191	0.125	T	0.08911	-1.0699	10	0.16896	T	0.51	-0.0733	0.1824	0.00125	0.3441:0.149:0.2059:0.301	.	101	E7ESK3	.	V	101;101;75	ENSP00000417498:L101V;ENSP00000420243:L101V	ENSP00000376209:L75V	L	-	1	0	MUC4	197002545	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.648000	0.05391	-0.825000	0.04290	-1.206000	0.01644	CTT		0.478	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		7	75	0	0	0	0.001984	0	7	75				
MUC4	4585	broad.mit.edu	37	3	195518254	195518254	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:195518254G>C	ENST00000463781.3	-	2	656	c.197C>G	c.(196-198)tCt>tGt	p.S66C	MUC4_ENST00000475231.1_Missense_Mutation_p.S66C|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	66					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCCTGATTAGAGGTCCTTGA	0.483																																							uc011bto.1		NA																	0					0						c.(196-198)TCT>TGT		mucin 4 isoform a							326.0	305.0	312.0					3																	195518254		2053	4207	6260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195518254G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.197C>G	3.37:g.195518254G>C	ENSP00000417498:p.Ser66Cys					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_5'Flank	p.S66C	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	657	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	66					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.197C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.853	0.158514	0.09236	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.52526	0.66;0.68	3.56	2.53	0.30540	.	5.551330	0.00496	U	0.000144	T	0.62258	0.2413	L	0.49778	1.585	0.09310	N	1	D	0.69078	0.997	D	0.64410	0.925	T	0.35226	-0.9797	10	0.66056	D	0.02	.	6.8539	0.24030	0.1444:0.0:0.8556:0.0	.	66	E7ESK3	.	C	66;66;40	ENSP00000417498:S66C;ENSP00000420243:S66C	ENSP00000376209:S40C	S	-	2	0	MUC4	197002649	0.006000	0.16342	0.001000	0.08648	0.004000	0.04260	1.244000	0.32778	0.936000	0.37367	0.531000	0.56144	TCT		0.483	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		6	153	0	0	0	0.001168	0	6	153				
NRROS	375387	broad.mit.edu	37	3	196388383	196388383	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:196388383C>G	ENST00000328557.4	+	3	2072	c.1869C>G	c.(1867-1869)ctC>ctG	p.L623L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	623					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCTGCAACCTCTCCTCCAAGA	0.647																																							uc003fwv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1867-1869)CTC>CTG		leucine rich repeat containing 33 precursor							77.0	82.0	80.0					3																	196388383		2203	4299	6502	SO:0001819	synonymous_variant	375387					integral to membrane		g.chr3:196388383C>G	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1869C>G	3.37:g.196388383C>G							p.L623L	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	1973	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		623			Extracellular (Potential).			Silent	SNP	ENST00000328557.4	37	c.1869C>G	CCDS3319.1																																																																																				0.647	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		5	128	0	0	0	0.001168	0	5	128				
DLG1	1739	broad.mit.edu	37	3	196831852	196831852	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:196831852C>A	ENST00000419354.1	-	15	1853	c.1567G>T	c.(1567-1569)Gct>Tct	p.A523S	DLG1_ENST00000452595.1_Missense_Mutation_p.A407S|DLG1_ENST00000422288.1_Missense_Mutation_p.A472S|DLG1_ENST00000443183.1_Missense_Mutation_p.A407S|DLG1_ENST00000392382.2_Missense_Mutation_p.A490S|DLG1_ENST00000448528.2_Missense_Mutation_p.A523S|DLG1_ENST00000357674.4_Missense_Mutation_p.A490S|DLG1_ENST00000450955.1_Missense_Mutation_p.A490S|DLG1_ENST00000346964.2_Missense_Mutation_p.A523S|DLG1_ENST00000314062.3_Missense_Mutation_p.A472S			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	523	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCATGACTAGCAGCTCTGAGG	0.388																																							uc003fxo.3		NA																	0				ovary(3)	3						c.(1567-1569)GCT>TCT		discs, large homolog 1 isoform 1							84.0	85.0	85.0					3																	196831852		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196831852C>A	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1567G>T	3.37:g.196831852C>A	ENSP00000407531:p.Ala523Ser					DLG1_uc011bub.1_Missense_Mutation_p.A407S|DLG1_uc011buc.1_Missense_Mutation_p.A407S|DLG1_uc011bud.1_Missense_Mutation_p.A206S|DLG1_uc003fxn.3_Missense_Mutation_p.A523S|DLG1_uc011bue.1_Missense_Mutation_p.A490S|DLG1_uc010ial.2_Missense_Mutation_p.A523S|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.A490S	p.A523S	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	15	1757	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	523			PDZ 3.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.1567G>T	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878613	0.72294	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.38	5.38	0.77491	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.65677	2.01	0.80722	D	1	P;D;D;D;D;D	0.76494	0.863;0.999;0.986;0.997;0.998;0.998	P;D;D;D;D;D	0.81914	0.771;0.995;0.932;0.96;0.992;0.96	T	0.55903	-0.8067	10	0.56958	D	0.05	.	17.6813	0.88243	0.0:1.0:0.0:0.0	.	490;407;407;490;523;523	Q12959-4;E9PG21;E7EWL7;Q12959-3;Q12959;Q12959-2	.;.;.;.;DLG1_HUMAN;.	S	523;523;490;523;472;523;407;472;523;407;490;490	ENSP00000345731:A523S;ENSP00000350303:A490S;ENSP00000321087:A472S;ENSP00000407531:A523S;ENSP00000398939:A407S;ENSP00000413238:A472S;ENSP00000391732:A523S;ENSP00000396658:A407S;ENSP00000376187:A490S;ENSP00000411278:A490S	ENSP00000321087:A472S	A	-	1	0	DLG1	198316249	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.080000	0.76837	2.505000	0.84491	0.591000	0.81541	GCT		0.388	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		4	47	1	0	0.00909568	0.009096	0.00980116	4	47				
SLC2A9	56606	broad.mit.edu	37	4	9982333	9982333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:9982333G>T	ENST00000264784.3	-	5	617	c.564C>A	c.(562-564)taC>taA	p.Y188*	SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.Y159*|SLC2A9_ENST00000506583.1_Nonsense_Mutation_p.Y159*	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	188					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCTCACTAAGGTACATGGGGA	0.567																																							uc003gmc.2		NA																	0				ovary(3)	3						c.(562-564)TAC>TAA		solute carrier family 2, member 9 protein							68.0	63.0	65.0					4																	9982333		2203	4300	6503	SO:0001587	stop_gained	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9982333G>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.564C>A	4.37:g.9982333G>T	ENSP00000264784:p.Tyr188*					SLC2A9_uc003gmd.2_Nonsense_Mutation_p.Y159*	p.Y188*	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			5	625	-			188			Helical; Name=4; (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Nonsense_Mutation	SNP	ENST00000264784.3	37	c.564C>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565668	0.86439	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	.	.	.	4.77	2.02	0.26589	.	0.074443	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4159	0.21715	0.1755:0.1505:0.674:0.0	.	.	.	.	X	159;188;159;159	.	.	Y	-	3	2	SLC2A9	9591431	1.000000	0.71417	0.789000	0.31954	0.650000	0.38633	1.461000	0.35255	0.073000	0.16731	0.650000	0.86243	TAC		0.567	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			8	31	1	0	4.68919e-08	0.008291	6.00031e-08	8	31				
ZNF518B	85460	broad.mit.edu	37	4	10447569	10447569	+	Missense_Mutation	SNP	C	C	G	rs180884763		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:10447569C>G	ENST00000326756.3	-	3	822	c.384G>C	c.(382-384)agG>agC	p.R128S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	128					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTTAAAGTTCCTTACCTTAA	0.373																																							uc003gmn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(382-384)AGG>AGC		zinc finger protein 518B							126.0	135.0	132.0					4																	10447569		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447569C>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.384G>C	4.37:g.10447569C>G	ENSP00000317614:p.Arg128Ser						p.R128S	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	871	-			128					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.384G>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768311	0.69878	.	.	ENSG00000178163	ENST00000326756	T	0.01629	4.72	5.98	3.96	0.45880	.	0.162448	0.41294	D	0.000919	T	0.01905	0.0060	L	0.27053	0.805	0.34223	D	0.675591	P	0.47350	0.894	B	0.42214	0.38	T	0.55854	-0.8075	10	0.62326	D	0.03	-27.887	10.2428	0.43324	0.0:0.7828:0.0:0.2172	.	128	Q9C0D4	Z518B_HUMAN	S	128	ENSP00000317614:R128S	ENSP00000317614:R128S	R	-	3	2	ZNF518B	10056667	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.854000	0.27791	1.536000	0.49237	0.650000	0.86243	AGG		0.373	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		7	86	0	0	0	0.001984	0	7	86				
BOD1L1	259282	broad.mit.edu	37	4	13606644	13606644	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:13606644G>C	ENST00000040738.5	-	10	2015	c.1880C>G	c.(1879-1881)cCa>cGa	p.P627R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	627	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										AGGTTTACTTGGTTCACTTTT	0.353																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(1879-1881)CCA>CGA		biorientation of chromosomes in cell division							49.0	50.0	50.0					4																	13606644		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13606644G>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1880C>G	4.37:g.13606644G>C	ENSP00000040738:p.Pro627Arg					BOD1L_uc010idr.1_5'UTR	p.P627R	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	1997	-			627			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.1880C>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746857	0.30955	.	.	ENSG00000038219	ENST00000040738	T	0.08193	3.12	5.51	3.79	0.43588	.	0.580848	0.14446	N	0.319095	T	0.06416	0.0165	L	0.29908	0.895	0.09310	N	1	P	0.40476	0.718	B	0.39185	0.293	T	0.33701	-0.9858	10	0.27785	T	0.31	-0.1343	6.3748	0.21501	0.2143:0.1349:0.6508:0.0	.	627	Q8NFC6	BOD1L_HUMAN	R	627	ENSP00000040738:P627R	ENSP00000040738:P627R	P	-	2	0	BOD1L	13215742	0.006000	0.16342	0.151000	0.22473	0.995000	0.86356	0.603000	0.24149	0.700000	0.31782	0.563000	0.77884	CCA		0.353	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	51	0	0	0	0.001984	0	7	51				
SLIT2	9353	broad.mit.edu	37	4	20525659	20525659	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:20525659A>G	ENST00000504154.1	+	14	1549	c.1297A>G	c.(1297-1299)Att>Gtt	p.I433V	SLIT2_ENST00000273739.5_Missense_Mutation_p.I437V|SLIT2_ENST00000503823.1_Missense_Mutation_p.I433V|SLIT2_ENST00000503837.1_Missense_Mutation_p.I437V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	433	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAACCCCTTTATTTGTGACTG	0.488																																							uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1297-1299)ATT>GTT		slit homolog 2 precursor							112.0	114.0	113.0					4																	20525659		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525659A>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1297A>G	4.37:g.20525659A>G	ENSP00000422591:p.Ile433Val					SLIT2_uc003gps.1_Missense_Mutation_p.I433V	p.I433V	NM_004787	NP_004778	O94813	SLIT2_HUMAN			14	1501	+			433			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1297A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096168	0.36952	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.81	5.81	0.92471	Cysteine-rich flanking region, C-terminal (1);	0.044496	0.85682	D	0.000000	T	0.20861	0.0502	L	0.28400	0.85	0.80722	D	1	B;B	0.15719	0.006;0.014	B;B	0.12156	0.004;0.007	T	0.04930	-1.0917	10	0.21014	T	0.42	.	16.1637	0.81739	1.0:0.0:0.0:0.0	.	433;433	O94813-3;O94813	.;SLIT2_HUMAN	V	433;433;437;437;437	ENSP00000427548:I433V;ENSP00000422591:I433V;ENSP00000273739:I437V;ENSP00000422261:I437V	ENSP00000273739:I437V	I	+	1	0	SLIT2	20134757	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	9.281000	0.95811	2.216000	0.71823	0.533000	0.62120	ATT		0.488	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			6	146	0	0	0	0.00308	0	6	146				
THAP9	79725	broad.mit.edu	37	4	83838125	83838125	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:83838125G>A	ENST00000302236.5	+	5	811	c.760G>A	c.(760-762)Ggt>Agt	p.G254S	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	254					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ACCCAGTCCAGGTTTCAACAG	0.348																																							uc003hnt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5						c.(760-762)GGT>AGT		THAP domain containing 9							130.0	127.0	128.0					4																	83838125		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83838125G>A	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.760G>A	4.37:g.83838125G>A	ENSP00000305533:p.Gly254Ser					THAP9_uc003hns.1_Missense_Mutation_p.G110S|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_5'UTR	p.G254S	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			5	879	+		Hepatocellular(203;0.114)	254					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.760G>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987324	0.35036	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.50813	0.73	3.77	2.92	0.33932	.	0.973174	0.08377	N	0.955154	T	0.51975	0.1706	L	0.54323	1.7	0.80722	D	1	D	0.56521	0.976	P	0.48368	0.575	T	0.53408	-0.8443	10	0.87932	D	0	-17.9527	11.5671	0.50811	0.0:0.1812:0.8188:0.0	.	254	Q9H5L6	THAP9_HUMAN	S	254	ENSP00000305533:G254S	ENSP00000305533:G254S	G	+	1	0	THAP9	84057149	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	5.011000	0.64011	1.155000	0.42497	0.650000	0.86243	GGT		0.348	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		7	74	0	0	0	0.001984	0	7	74				
WDFY3	23001	broad.mit.edu	37	4	85731329	85731329	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:85731329G>A	ENST00000295888.4	-	14	2463	c.2056C>T	c.(2056-2058)Cac>Tac	p.H686Y	WDFY3_ENST00000322366.6_Missense_Mutation_p.H686Y|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	686					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACACAGTGTGAAGAAGTTCA	0.448																																							uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2056-2058)CAC>TAC		WD repeat and FYVE domain containing 3 isoform							95.0	91.0	92.0					4																	85731329		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731329G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2056C>T	4.37:g.85731329G>A	ENSP00000295888:p.His686Tyr					WDFY3_uc003hpf.2_Missense_Mutation_p.H686Y	p.H686Y	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2464	-		Hepatocellular(203;0.114)	686					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2056C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328525	0.60743	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.65178	-0.14;-0.14	5.96	5.96	0.96718	.	0.045355	0.85682	D	0.000000	T	0.60495	0.2273	L	0.47716	1.5	0.80722	D	1	B;B	0.19073	0.033;0.033	B;B	0.20184	0.015;0.028	T	0.52939	-0.8508	10	0.40728	T	0.16	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	686;686	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	Y	686	ENSP00000318466:H686Y;ENSP00000295888:H686Y	ENSP00000295888:H686Y	H	-	1	0	WDFY3	85950353	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.338000	0.96553	2.826000	0.97356	0.655000	0.94253	CAC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		9	63	0	0	0	0.006214	0	9	63				
CENPE	1062	broad.mit.edu	37	4	104084360	104084360	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:104084360C>T	ENST00000265148.3	-	18	1865	c.1776G>A	c.(1774-1776)aaG>aaA	p.K592K	CENPE_ENST00000380026.3_Silent_p.K567K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	592					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTGTAGCTTCTTAATCTGGT	0.328																																							uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.(1774-1776)AAG>AAA		centromere protein E							120.0	119.0	119.0					4																	104084360		2202	4294	6496	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104084360C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1776G>A	4.37:g.104084360C>T						CENPE_uc003hxc.1_Silent_p.K567K	p.K592K	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	18	1866	-			592			Potential.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.1776G>A	CCDS34042.1																																																																																				0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	20	0	0	0	0.001168	0	6	20				
ANK2	287	broad.mit.edu	37	4	114274912	114274912	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:114274912A>T	ENST00000357077.4	+	38	5191	c.5138A>T	c.(5137-5139)aAa>aTa	p.K1713I	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.K1680I|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1713					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAGCAGAAACAAAAAGAG	0.403																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5137-5139)AAA>ATA		ankyrin 2 isoform 1							116.0	124.0	121.0					4																	114274912		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114274912A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5138A>T	4.37:g.114274912A>T	ENSP00000349588:p.Lys1713Ile					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.K1728I	p.K1713I	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5238	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1680					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5138A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760408	0.49468	.	.	ENSG00000145362	ENST00000504454;ENST00000357077;ENST00000264366	T;T;T	0.70164	-0.41;-0.46;-0.41	5.21	4.03	0.46877	.	0.096397	0.44688	D	0.000433	T	0.67135	0.2861	M	0.64997	1.995	0.80722	D	1	P;P	0.47302	0.893;0.865	P;P	0.46275	0.466;0.51	T	0.66404	-0.5932	9	.	.	.	.	12.3192	0.54975	0.8436:0.1564:0.0:0.0	.	1680;1713	Q01484;Q01484-4	ANK2_HUMAN;.	I	1728;1713;1680	ENSP00000424722:K1728I;ENSP00000349588:K1713I;ENSP00000264366:K1680I	.	K	+	2	0	ANK2	114494361	0.991000	0.36638	0.992000	0.48379	0.990000	0.78478	3.033000	0.49743	0.905000	0.36596	0.533000	0.62120	AAA		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	114	0	0	0	0.004482	0	8	114				
FAT4	79633	broad.mit.edu	37	4	126240995	126240995	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:126240995G>C	ENST00000394329.3	+	1	3442	c.3429G>C	c.(3427-3429)caG>caC	p.Q1143H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1143	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGGTGCAGCCAGATTTTG	0.453																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3427-3429)CAG>CAC		FAT tumor suppressor homolog 4 precursor							161.0	163.0	162.0					4																	126240995		1911	4133	6044	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240995G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3429G>C	4.37:g.126240995G>C	ENSP00000377862:p.Gln1143His						p.Q1143H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3429	+			1143			Cadherin 11.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3429G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350979	0.41599	.	.	ENSG00000196159	ENST00000394329	T	0.51574	0.7	4.99	3.23	0.37069	Cadherin (4);Cadherin-like (1);	0.000000	0.32819	U	0.005604	T	0.58293	0.2112	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.57452	-0.7809	10	0.45353	T	0.12	.	11.1008	0.48172	0.2099:0.0:0.7901:0.0	.	1143	Q6V0I7	FAT4_HUMAN	H	1143	ENSP00000377862:Q1143H	ENSP00000377862:Q1143H	Q	+	3	2	FAT4	126460445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.128000	0.50492	1.337000	0.45525	0.561000	0.74099	CAG		0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	113	0	0	0	0.001168	0	6	113				
ELF2	1998	broad.mit.edu	37	4	139983041	139983041	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:139983041C>T	ENST00000394235.2	-	8	1250	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	ELF2_ENST00000379550.1_Missense_Mutation_p.E262K|ELF2_ENST00000379549.2_Missense_Mutation_p.E173K|ELF2_ENST00000515489.1_5'Flank|ELF2_ENST00000510408.1_Missense_Mutation_p.E190K|ELF2_ENST00000265495.4_Missense_Mutation_p.E250K|ELF2_ENST00000358635.3_Missense_Mutation_p.E202K	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCCATGGTTTCATAGTTCATG	0.358																																							uc003ihp.1		NA																	0				ovary(1)|skin(1)	2						c.(748-750)GAA>AAA		E74-like factor 2 (ets domain transcription							105.0	94.0	98.0					4																	139983041		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr4:139983041C>T	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.748G>A	4.37:g.139983041C>T	ENSP00000377782:p.Glu250Lys					ELF2_uc003ihm.1_Missense_Mutation_p.E202K|ELF2_uc003ihn.1_Missense_Mutation_p.E190K|ELF2_uc003iho.1_Missense_Mutation_p.E173K|ELF2_uc011chc.1_Missense_Mutation_p.E65K	p.E250K	NM_201999	NP_973728	Q15723	ELF2_HUMAN			7	954	-	all_hematologic(180;0.162)		262			ETS.			Missense_Mutation	SNP	ENST00000394235.2	37	c.748G>A	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717265	0.96839	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408;ENST00000420916;ENST00000512627	T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999	T	0.83291	-0.0033	9	.	.	.	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	65;250;173;190;202	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	K	202;250;262;250;173;65;190;173;161	ENSP00000351458:E202K;ENSP00000377782:E250K;ENSP00000368868:E262K;ENSP00000265495:E250K;ENSP00000368867:E173K;ENSP00000426997:E190K;ENSP00000397796:E173K;ENSP00000426087:E161K	.	E	-	1	0	ELF2	140202491	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.770000	0.85390	2.659000	0.90383	0.655000	0.94253	GAA		0.358	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		6	46	0	0	0	0.001984	0	6	46				
CLCN3	1182	broad.mit.edu	37	4	170613428	170613428	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:170613428A>G	ENST00000513761.1	+	7	1452	c.893A>G	c.(892-894)tAc>tGc	p.Y298C	CLCN3_ENST00000360642.3_Missense_Mutation_p.Y298C|CLCN3_ENST00000347613.4_Missense_Mutation_p.Y298C|CLCN3_ENST00000504131.2_Missense_Mutation_p.Y281C	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	298					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATCTTTTCCTACCTCTTTCCA	0.358																																							uc003isi.2		NA																	0				breast(2)|ovary(1)	3						c.(892-894)TAC>TGC		chloride channel 3 isoform b							150.0	147.0	148.0					4																	170613428		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170613428A>G	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.893A>G	4.37:g.170613428A>G	ENSP00000424603:p.Tyr298Cys					CLCN3_uc003ish.2_Missense_Mutation_p.Y298C|CLCN3_uc011cjz.1_Missense_Mutation_p.Y281C|CLCN3_uc011cka.1_Missense_Mutation_p.Y298C|CLCN3_uc003isj.1_Missense_Mutation_p.Y271C	p.Y298C	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	7	1402	+		Prostate(90;0.00601)|Renal(120;0.0183)	298			Helical; (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.893A>G	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673204	0.47781	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.94	4.76	0.60689	Chloride channel, core (2);	0.051571	0.85682	N	0.000000	D	0.89553	0.6748	L	0.52266	1.64	0.80722	D	1	B;B;B;B;B	0.15141	0.007;0.012;0.012;0.004;0.003	B;B;B;B;B	0.24394	0.033;0.033;0.053;0.033;0.02	D	0.85787	0.1365	10	0.66056	D	0.02	-0.5807	12.0454	0.53477	0.933:0.0:0.067:0.0	.	298;281;271;298;298	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	C	298;298;298;281;271	ENSP00000424603:Y298C;ENSP00000261514:Y298C;ENSP00000353857:Y298C;ENSP00000424540:Y281C;ENSP00000425323:Y271C	ENSP00000261514:Y298C	Y	+	2	0	CLCN3	170850003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.309000	0.72825	1.087000	0.41251	0.529000	0.55759	TAC		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			8	107	0	0	0	0.00308	0	8	107				
TRIML1	339976	broad.mit.edu	37	4	189068192	189068192	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr4:189068192G>T	ENST00000332517.3	+	6	1213	c.1073G>T	c.(1072-1074)tGc>tTc	p.C358F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	358	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGCATCTGCAAGGACTCT	0.537																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1072-1074)TGC>TTC		tripartite motif family-like 1							89.0	90.0	89.0					4																	189068192		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068192G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1073G>T	4.37:g.189068192G>T	ENSP00000327738:p.Cys358Phe					TRIML1_uc003izn.1_Missense_Mutation_p.C82F	p.C358F	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1188	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	358			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1073G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	12.47	1.948801	0.34377	.	.	ENSG00000184108	ENST00000332517	T	0.63417	-0.04	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000018	T	0.80243	0.4587	M	0.89214	3.015	0.44201	D	0.997021	D	0.71674	0.998	D	0.71414	0.973	T	0.83095	-0.0131	10	0.87932	D	0	-19.1821	11.6796	0.51451	0.0:0.1784:0.8216:0.0	.	358	Q8N9V2	TRIML_HUMAN	F	358	ENSP00000327738:C358F	ENSP00000327738:C358F	C	+	2	0	TRIML1	189305186	0.204000	0.23447	1.000000	0.80357	0.430000	0.31655	1.242000	0.32755	2.749000	0.94314	0.550000	0.68814	TGC		0.537	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		9	66	1	0	0.000274275	0.004482	0.000311968	9	66				
TRIP13	9319	broad.mit.edu	37	5	908512	908512	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:908512A>T	ENST00000166345.3	+	9	1158	c.802A>T	c.(802-804)Acc>Tcc	p.T268S		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	268					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CAGGGCGGGCACCGAGCCATC	0.557																																							uc003jbr.2		NA																	0					0						c.(802-804)ACC>TCC		thyroid hormone receptor interactor 13							70.0	72.0	71.0					5																	908512		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:908512A>T	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.802A>T	5.37:g.908512A>T	ENSP00000166345:p.Thr268Ser					TRIP13_uc010ite.1_Missense_Mutation_p.T268S	p.T268S	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		9	912	+			268					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.802A>T	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	5.214	0.225077	0.09916	.	.	ENSG00000071539	ENST00000166345	D	0.94650	-3.48	6.08	-1.99	0.07457	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.183928	0.56097	D	0.000021	D	0.86912	0.6047	N	0.25890	0.77	0.50039	D	0.999847	B	0.13594	0.008	B	0.17433	0.018	T	0.70400	-0.4882	10	0.14656	T	0.56	-29.4787	11.3904	0.49811	0.5509:0.0:0.4491:0.0	.	268	Q15645	PCH2_HUMAN	S	268	ENSP00000166345:T268S	ENSP00000166345:T268S	T	+	1	0	TRIP13	961512	0.999000	0.42202	0.000000	0.03702	0.005000	0.04900	2.608000	0.46308	-0.558000	0.06118	-0.408000	0.06270	ACC		0.557	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		8	59	0	0	0	0.00308	0	8	59				
PRDM9	56979	broad.mit.edu	37	5	23526991	23526991	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:23526991C>A	ENST00000296682.3	+	11	1976	c.1794C>A	c.(1792-1794)caC>caA	p.H598Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	598					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCACTCACCAGAGGACAC	0.597										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1792-1794)CAC>CAA		PR domain containing 9							36.0	41.0	39.0					5																	23526991		2099	4205	6304	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526991C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1794C>A	5.37:g.23526991C>A	ENSP00000296682:p.His598Gln	HNSCC(3;0.000094)					p.H598Q	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1976	+			598			C2H2-type 4.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1794C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776935	0.31411	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	D	0.86865	-2.18	2.19	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.414515	0.17884	N	0.158750	D	0.94785	0.8316	H	0.95982	3.75	0.35983	D	0.836129	D	0.89917	1.0	D	0.97110	1.0	D	0.96048	0.9029	10	0.87932	D	0	-9.3636	10.4256	0.44375	0.0:1.0:0.0:0.0	.	598	Q9NQV7	PRDM9_HUMAN	Q	598;364	ENSP00000296682:H598Q	ENSP00000253473:H364Q	H	+	3	2	PRDM9	23562748	0.522000	0.26266	0.988000	0.46212	0.191000	0.23601	1.006000	0.29847	1.501000	0.48654	0.555000	0.69702	CAC		0.597	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		11	104	1	0	3.52763e-06	0.00499	4.31525e-06	11	104				
CDH10	1008	broad.mit.edu	37	5	24498546	24498546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:24498546G>T	ENST00000264463.4	-	9	1983	c.1476C>A	c.(1474-1476)ttC>ttA	p.F492L	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	492	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGTGTCATAGAACACAGCAA	0.398										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1474-1476)TTC>TTA		cadherin 10, type 2 preproprotein							73.0	71.0	71.0					5																	24498546		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24498546G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1476C>A	5.37:g.24498546G>T	ENSP00000264463:p.Phe492Leu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.F492L	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1808	-			492			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1476C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	9.730	1.162032	0.21538	.	.	ENSG00000040731	ENST00000264463	T	0.60040	0.22	5.53	1.7	0.24286	Cadherin (1);Cadherin-like (1);	0.221829	0.46442	D	0.000283	T	0.38427	0.1040	L	0.31578	0.945	0.39285	D	0.964623	B	0.10296	0.003	B	0.11329	0.006	T	0.13522	-1.0506	10	0.13108	T	0.6	.	8.3967	0.32561	0.3873:0.0:0.6127:0.0	.	492	Q9Y6N8	CAD10_HUMAN	L	492	ENSP00000264463:F492L	ENSP00000264463:F492L	F	-	3	2	CDH10	24534303	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.724000	0.25954	0.027000	0.15297	0.655000	0.94253	TTC		0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		8	39	1	0	3.09899e-07	0.004482	3.90131e-07	8	39				
PDZD2	23037	broad.mit.edu	37	5	32010523	32010523	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:32010523G>A	ENST00000438447.1	+	6	1730	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D448N			O15018	PDZD2_HUMAN	PDZ domain containing 2	448					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCCTGGACTGATAACGAAGA	0.532																																							uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(1342-1344)GAT>AAT		PDZ domain containing 2							85.0	82.0	83.0					5																	32010523		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32010523G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1342G>A	5.37:g.32010523G>A	ENSP00000402033:p.Asp448Asn					PDZD2_uc003jhm.2_Missense_Mutation_p.D448N|PDZD2_uc011cnx.1_Missense_Mutation_p.D274N	p.D448N	NM_178140	NP_835260	O15018	PDZD2_HUMAN			6	1730	+			448					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1342G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739235	0.89573	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.08370	3.1;3.1	6.02	6.02	0.97574	.	0.000000	0.45867	D	0.000336	T	0.17959	0.0431	N	0.24115	0.695	0.37259	D	0.906898	P;D	0.89917	0.956;1.0	B;D	0.91635	0.366;0.999	T	0.02705	-1.1121	10	0.51188	T	0.08	.	16.0471	0.80727	0.0:0.0:1.0:0.0	.	274;448	B4E3P2;O15018	.;PDZD2_HUMAN	N	448	ENSP00000402033:D448N;ENSP00000282493:D448N	ENSP00000282493:D448N	D	+	1	0	PDZD2	32046280	0.999000	0.42202	0.988000	0.46212	0.891000	0.51852	4.428000	0.59894	2.850000	0.98022	0.650000	0.86243	GAT		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	76	0	0	0	0.00308	0	8	76				
DDX4	54514	broad.mit.edu	37	5	55083796	55083796	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:55083796G>A	ENST00000505374.1	+	15	1232	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	DDX4_ENST00000511853.1_Silent_p.Q231Q|DDX4_ENST00000514278.2_Silent_p.Q360Q|DDX4_ENST00000354991.5_Silent_p.Q346Q|DDX4_ENST00000353507.5_Silent_p.Q346Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	380	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.			Q -> K (in Ref. 6; AAH47455). {ECO:0000305}.	male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGTCAACCAGATTTATTTGG	0.373																																							uc003jqg.3		NA																	0				ovary(1)|skin(1)	2						c.(1138-1140)CAG>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							57.0	61.0	60.0					5																	55083796		2203	4300	6503	SO:0001819	synonymous_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55083796G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1140G>A	5.37:g.55083796G>A						DDX4_uc010ivz.2_Silent_p.Q360Q|DDX4_uc003jqh.3_Silent_p.Q346Q|DDX4_uc003jqj.2_Silent_p.Q231Q	p.Q380Q	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			15	1214	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	380	Q -> K (in Ref. 5; AAH47455).		Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	c.1140G>A	CCDS3969.1																																																																																				0.373	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		3	28	0	0	0	0.009096	0	3	28				
CD180	4064	broad.mit.edu	37	5	66479858	66479858	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:66479858G>C	ENST00000256447.4	-	3	970	c.813C>G	c.(811-813)ctC>ctG	p.L271L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	271					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		ACATTTCACAGAGTCCCTTGA	0.463																																							uc003juy.2		NA																	0				ovary(1)	1						c.(811-813)CTC>CTG		CD180 molecule precursor							108.0	107.0	108.0					5																	66479858		2203	4300	6503	SO:0001819	synonymous_variant	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479858G>C	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.813C>G	5.37:g.66479858G>C							p.L271L	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	961	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	271			Extracellular (Potential).		B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	c.813C>G	CCDS3992.1																																																																																				0.463	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		5	59	0	0	0	0.000602	0	5	59				
BDP1	55814	broad.mit.edu	37	5	70805797	70805797	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:70805797A>T	ENST00000358731.4	+	17	3141	c.2878A>T	c.(2878-2880)Act>Tct	p.T960S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	960	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTGAAAGCAACTGGAAATGA	0.428																																							uc003kbp.1		NA																	0				skin(2)	2						c.(2878-2880)ACT>TCT		transcription factor-like nuclear regulator							70.0	70.0	70.0					5																	70805797		1840	4098	5938	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805797A>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2878A>T	5.37:g.70805797A>T	ENSP00000351575:p.Thr960Ser					BDP1_uc003kbn.1_Missense_Mutation_p.T960S|BDP1_uc003kbo.2_Missense_Mutation_p.T960S	p.T960S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3141	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	960			3.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.2878A>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.769116	0.31320	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.17528	2.27	3.9	-5.84	0.02318	.	0.638860	0.13766	N	0.364252	T	0.13970	0.0338	M	0.65498	2.005	0.09310	N	0.999997	B;B;D	0.54207	0.123;0.234;0.965	B;B;P	0.47705	0.015;0.099;0.555	T	0.17440	-1.0369	10	0.11794	T	0.64	.	1.9516	0.03367	0.2233:0.423:0.2053:0.1484	.	960;960;960	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	S	960;540	ENSP00000351575:T960S	ENSP00000351575:T960S	T	+	1	0	BDP1	70841553	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.059000	0.11731	-1.117000	0.02965	0.260000	0.18958	ACT		0.428	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		17	59	0	0	0	0.004007	0	17	59				
SV2C	22987	broad.mit.edu	37	5	75427941	75427941	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:75427941G>C	ENST00000502798.2	+	2	808	c.366G>C	c.(364-366)gaG>gaC	p.E122D	SV2C_ENST00000322285.7_Missense_Mutation_p.E122D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	122					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)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACCGGCGGGAGCTGGAATCAG	0.547																																							uc003kei.1		NA																	0				skin(1)	1						c.(364-366)GAG>GAC		synaptic vesicle glycoprotein 2C							105.0	124.0	118.0					5																	75427941		2060	4212	6272	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75427941G>C	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.366G>C	5.37:g.75427941G>C	ENSP00000423541:p.Glu122Asp						p.E122D	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	500	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	122			Cytoplasmic (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.366G>C	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	1.107	-0.659212	0.03454	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.46063	0.88;0.88	5.71	-0.298	0.12814	Major facilitator superfamily domain, general substrate transporter (1);	0.581990	0.19038	N	0.124347	T	0.13329	0.0323	N	0.02011	-0.69	0.41929	D	0.990553	B	0.02656	0.0	B	0.12837	0.008	T	0.38714	-0.9648	10	0.02654	T	1	-9.1346	10.5982	0.45352	0.1004:0.6171:0.2825:0.0	.	122	Q496J9	SV2C_HUMAN	D	122	ENSP00000423541:E122D;ENSP00000316983:E122D	ENSP00000316983:E122D	E	+	3	2	SV2C	75463697	0.997000	0.39634	0.992000	0.48379	0.463000	0.32649	0.422000	0.21296	0.240000	0.21263	-0.211000	0.12701	GAG		0.547	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			8	52	0	0	0	0.004482	0	8	52				
GPR98	84059	broad.mit.edu	37	5	89985761	89985761	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:89985761G>C	ENST00000405460.2	+	30	6670	c.6574G>C	c.(6574-6576)Gat>Cat	p.D2192H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2192	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTCATTAATGATATCTATCC	0.393																																							uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6574-6576)GAT>CAT		G protein-coupled receptor 98 precursor							73.0	70.0	71.0					5																	89985761		1847	4096	5943	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89985761G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6574G>C	5.37:g.89985761G>C	ENSP00000384582:p.Asp2192His					GPR98_uc003kjt.2_5'UTR	p.D2192H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	30	6670	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2192			Extracellular (Potential).|Calx-beta 15.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6574G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842862	0.91197	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.56941	0.43	5.36	5.36	0.76844	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83628	0.0143	10	0.87932	D	0	.	19.1187	0.93353	0.0:0.0:1.0:0.0	.	2192	Q8WXG9	GPR98_HUMAN	H	2192	ENSP00000384582:D2192H	ENSP00000296619:D2192H	D	+	1	0	GPR98	90021517	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.525000	0.98039	2.501000	0.84356	0.650000	0.86243	GAT		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	20	0	0	0	0.000602	0	5	20				
C5orf15	56951	broad.mit.edu	37	5	133295282	133295282	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:133295282G>C	ENST00000231512.3	-	2	771	c.569C>G	c.(568-570)tCa>tGa	p.S190*	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	190						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TTCTATATTTGAGGATGGCAT	0.388																																							uc003kyo.2		NA																	0					0						c.(568-570)TCA>TGA		keratinocytes associated transmembrane protein 2							66.0	67.0	67.0					5																	133295282		2203	4300	6503	SO:0001587	stop_gained	56951					integral to membrane		g.chr5:133295282G>C	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.569C>G	5.37:g.133295282G>C	ENSP00000231512:p.Ser190*						p.S190*	NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		2	700	-			190			Extracellular (Potential).		B2RD10|D3DQ92|Q9NRG2	Nonsense_Mutation	SNP	ENST00000231512.3	37	c.569C>G	CCDS4167.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681041	0.96774	.	.	ENSG00000113583	ENST00000231512;ENST00000451255	.	.	.	5.92	5.92	0.95590	.	0.493273	0.19064	N	0.123697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-3.0495	12.5171	0.56038	0.0834:0.0:0.9165:0.0	.	.	.	.	X	190;90	.	ENSP00000231512:S190X	S	-	2	0	C5orf15	133323181	1.000000	0.71417	0.926000	0.36857	0.971000	0.66376	5.377000	0.66184	2.809000	0.96659	0.655000	0.94253	TCA		0.388	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1	NM_020199		7	50	0	0	0	0.001984	0	7	50				
PCDHB1	29930	broad.mit.edu	37	5	140432960	140432960	+	Missense_Mutation	SNP	C	C	G	rs201674417		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140432960C>G	ENST00000306549.3	+	1	1982	c.1905C>G	c.(1903-1905)gaC>gaG	p.D635E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGAGAGACCCCATGATGC	0.428																																							uc003lik.1		NA																	0					0						c.(1903-1905)GAC>GAG		protocadherin beta 1 precursor							123.0	121.0	121.0					5																	140432960		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432960C>G	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1905C>G	5.37:g.140432960C>G	ENSP00000307234:p.Asp635Glu						p.D635E	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1982	+			635			Cadherin 6.|Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1905C>G	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779447	0.49891	.	.	ENSG00000171815	ENST00000306549	T	0.47869	0.83	6.08	2.32	0.28847	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000134	T	0.60222	0.2252	L	0.58101	1.795	0.32253	N	0.571126	D	0.89917	1.0	D	0.91635	0.999	T	0.66866	-0.5815	10	0.66056	D	0.02	.	9.3891	0.38361	0.0:0.6656:0.0:0.3344	.	635	Q9Y5F3	PCDB1_HUMAN	E	635	ENSP00000307234:D635E	ENSP00000307234:D635E	D	+	3	2	PCDHB1	140413144	0.000000	0.05858	1.000000	0.80357	0.967000	0.64934	-0.326000	0.07965	0.904000	0.36572	0.655000	0.94253	GAC		0.428	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		7	107	0	0	0	0.004482	0	7	107				
PCDHB3	56132	broad.mit.edu	37	5	140481446	140481446	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140481446T>A	ENST00000231130.2	+	1	1213	c.1213T>A	c.(1213-1215)Tca>Aca	p.S405T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTAGTGTCAGAAGGCGC	0.468																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1213-1215)TCA>ACA		protocadherin beta 3 precursor							76.0	75.0	75.0					5																	140481446		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481446T>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1213T>A	5.37:g.140481446T>A	ENSP00000231130:p.Ser405Thr					uc003lin.2_Intron	p.S405T	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1213	+			405			Extracellular (Potential).|Cadherin 4.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1213T>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.267368	0.00259	.	.	ENSG00000113205	ENST00000231130	T	0.42513	0.97	4.63	-7.54	0.01332	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06600	0.0169	N	0.00081	-2.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47381	-0.9122	9	0.02654	T	1	.	9.7983	0.40748	0.7559:0.0781:0.0:0.166	.	405	Q9Y5E6	PCDB3_HUMAN	T	405	ENSP00000231130:S405T	ENSP00000231130:S405T	S	+	1	0	PCDHB3	140461630	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.330000	0.02675	-0.709000	0.05008	0.533000	0.62120	TCA		0.468	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		7	67	0	0	0	0.001984	0	7	67				
PCDHB14	56122	broad.mit.edu	37	5	140603915	140603915	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140603915A>T	ENST00000239449.4	+	1	838	c.838A>T	c.(838-840)Aca>Tca	p.T280S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T127S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATCTTACACATTTTTCCA	0.408																																					Ovarian(141;50 1831 27899 33809 37648)	Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(838-840)ACA>TCA		protocadherin beta 14 precursor							45.0	48.0	47.0					5																	140603915		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603915A>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.838A>T	5.37:g.140603915A>T	ENSP00000239449:p.Thr280Ser					PCDHB14_uc011dal.1_Missense_Mutation_p.T127S	p.T280S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	838	+			280			Extracellular (Potential).|Cadherin 3.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.838A>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	0.031	-1.335064	0.01287	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.46063	0.88;0.88	4.75	-2.38	0.06622	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.07548	0.0190	N	0.00315	-1.66	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.34254	-0.9836	9	0.02654	T	1	.	1.417	0.02303	0.2989:0.0973:0.1584:0.4455	.	280	Q9Y5E9	PCDBE_HUMAN	S	127;280	ENSP00000444518:T127S;ENSP00000239449:T280S	ENSP00000239449:T280S	T	+	1	0	PCDHB14	140584099	0.000000	0.05858	0.001000	0.08648	0.973000	0.67179	-1.063000	0.03465	-0.173000	0.10761	0.533000	0.62120	ACA		0.408	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		5	37	0	0	0	0.000602	0	5	37				
PCDHB14	56122	broad.mit.edu	37	5	140604343	140604343	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140604343C>A	ENST00000239449.4	+	1	1266	c.1266C>A	c.(1264-1266)acC>acA	p.T422T	PCDHB14_ENST00000515856.2_Silent_p.T269T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	422	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACGATCACCGTCACAGACT	0.498																																					Ovarian(141;50 1831 27899 33809 37648)	Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(1264-1266)ACC>ACA		protocadherin beta 14 precursor							146.0	140.0	142.0					5																	140604343		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604343C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1266C>A	5.37:g.140604343C>A						PCDHB14_uc011dal.1_Silent_p.T269T	p.T422T	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1266	+			422			Cadherin 4.|Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1266C>A	CCDS4256.1																																																																																				0.498	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		10	141	1	0	0.00621372	0.006214	0.00678971	10	141				
SLC25A2	83884	broad.mit.edu	37	5	140683204	140683204	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140683204C>T	ENST00000239451.4	-	1	408	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	77					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACCGAGTTTTCGGCGACGTAG	0.577																																							uc003ljf.2		NA																	0				ovary(1)	1						c.(229-231)GAA>AAA		solute carrier family 25 member 2	L-Ornithine(DB00129)						85.0	84.0	84.0					5																	140683204		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683204C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.229G>A	5.37:g.140683204C>T	ENSP00000239451:p.Glu77Lys						p.E77K	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	409	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	77			Helical; Name=2; (Potential).|Solcar 1.		Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.229G>A	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344352	0.41498	.	.	ENSG00000120329	ENST00000239451	T	0.78003	-1.14	3.93	-1.42	0.08913	Mitochondrial carrier domain (2);	0.116270	0.56097	U	0.000026	T	0.82208	0.4987	M	0.68952	2.095	0.49915	D	0.999832	D	0.76494	0.999	D	0.71656	0.974	T	0.77814	-0.2448	10	0.29301	T	0.29	-10.6561	10.7573	0.46245	0.0:0.3624:0.5502:0.0874	.	77	Q9BXI2	ORNT2_HUMAN	K	77	ENSP00000239451:E77K	ENSP00000239451:E77K	E	-	1	0	SLC25A2	140663388	0.998000	0.40836	0.007000	0.13788	0.002000	0.02628	3.535000	0.53575	-0.294000	0.08973	-0.142000	0.14014	GAA		0.577	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		15	84	0	0	0	0.00245	0	15	84				
PCDHGA1	56114	broad.mit.edu	37	5	140710633	140710633	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:140710633G>A	ENST00000517417.1	+	1	382	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D128N|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATATTAATGACAACACTCC	0.403																																							uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(382-384)GAC>AAC		protocadherin gamma subfamily A, 1 isoform 1							93.0	106.0	102.0					5																	140710633		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710633G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.382G>A	5.37:g.140710633G>A	ENSP00000431083:p.Asp128Asn					PCDHGA1_uc011dan.1_Missense_Mutation_p.D128N	p.D128N	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	382	+			128			Cadherin 1.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.382G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429800	0.83776	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.53640	0.61;0.61	4.2	4.2	0.49525	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.122449	0.35936	N	0.002882	D	0.84683	0.5526	H	0.99974	5.14	0.36433	D	0.865007	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.984	D	0.94239	0.7483	10	0.87932	D	0	.	16.7229	0.85414	0.0:0.0:1.0:0.0	.	128;128	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	N	128	ENSP00000431083:D128N;ENSP00000367345:D128N	ENSP00000367345:D128N	D	+	1	0	PCDHGA1	140690817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.579000	0.98204	2.349000	0.79799	0.655000	0.94253	GAC		0.403	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		24	130	0	0	0	0.003954	0	24	130				
SPINK5	11005	broad.mit.edu	37	5	147473998	147473998	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:147473998G>C	ENST00000256084.7	+	9	790	c.748G>C	c.(748-750)Gac>Cac	p.D250H	SPINK5_ENST00000359874.3_Missense_Mutation_p.D250H|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Missense_Mutation_p.D250H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	250	Kazal-like 4. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGGCCCTGACGGCAGGAT	0.423																																							uc003lox.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(748-750)GAC>CAC		serine peptidase inhibitor, Kazal type 5 isoform							152.0	153.0	152.0					5																	147473998		1902	4110	6012	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147473998G>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.748G>C	5.37:g.147473998G>C	ENSP00000256084:p.Asp250His					SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.D222H|SPINK5_uc010jgr.2_Missense_Mutation_p.D231H|SPINK5_uc003low.2_Missense_Mutation_p.D250H|SPINK5_uc003loy.2_Missense_Mutation_p.D250H	p.D250H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	821	+			250			Kazal-like 4.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.748G>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981424	0.74474	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.04	5.04	0.67666	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.53938	D	0.000047	T	0.44540	0.1298	M	0.90252	3.1	0.34516	D	0.707603	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.64257	-0.6450	10	0.59425	D	0.04	-20.2419	14.2564	0.66055	0.0:0.0:1.0:0.0	.	231;250;250;250	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	250;250;231;250	ENSP00000381472:D250H;ENSP00000352936:D250H;ENSP00000421519:D231H;ENSP00000256084:D250H	ENSP00000256084:D250H	D	+	1	0	SPINK5	147454191	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.502000	0.45398	2.504000	0.84457	0.650000	0.86243	GAC		0.423	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		4	94	0	0	0	0.000602	0	4	94				
SH3TC2	79628	broad.mit.edu	37	5	148411177	148411177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:148411177C>G	ENST00000515425.1	-	9	1176	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E352Q|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E244Q|SH3TC2_ENST00000513340.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	359					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAACACTCAGTCTGCTTA	0.537																																							uc003lpu.2		NA																	0				ovary(2)	2						c.(1075-1077)GAG>CAG		SH3 domain and tetratricopeptide repeats 2							173.0	137.0	149.0					5																	148411177		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148411177C>G	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1075G>C	5.37:g.148411177C>G	ENSP00000423660:p.Glu359Gln					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.E352Q|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E244Q	p.E359Q	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1227	-			359					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1075G>C	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	5.300	0.240674	0.10023	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.77358	-1.09;-1.08;-0.74	5.01	5.01	0.66863	.	0.210869	0.42964	D	0.000639	T	0.67449	0.2894	L	0.42245	1.32	0.29656	N	0.843582	P;B;B	0.42827	0.791;0.411;0.411	B;B;B	0.32289	0.143;0.06;0.06	T	0.72323	-0.4328	10	0.54805	T	0.06	.	14.7211	0.69308	0.0:0.8145:0.1855:0.0	.	244;352;359	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	Q	359;352;244	ENSP00000423660:E359Q;ENSP00000421860:E352Q;ENSP00000377886:E244Q	ENSP00000377886:E244Q	E	-	1	0	SH3TC2	148391370	0.994000	0.37717	0.564000	0.28396	0.003000	0.03518	3.007000	0.49536	2.763000	0.94921	0.563000	0.77884	GAG		0.537	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		6	39	0	0	0	0.001168	0	6	39				
ABLIM3	22885	broad.mit.edu	37	5	148632354	148632354	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:148632354G>A	ENST00000506113.1	+	22	2374	c.1892G>A	c.(1891-1893)aGa>aAa	p.R631K	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R631K|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R520K|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R536K|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R598K|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R520K|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R117K			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	631	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTACAAGAGGAAGAAAC	0.488																																							uc003lpy.2		NA																	0				ovary(2)|skin(1)	3						c.(1891-1893)AGA>AAA		actin binding LIM protein family, member 3							123.0	121.0	122.0					5																	148632354		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148632354G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1892G>A	5.37:g.148632354G>A	ENSP00000425394:p.Arg631Lys					ABLIM3_uc003lpz.1_Missense_Mutation_p.R631K|ABLIM3_uc003lqa.1_Missense_Mutation_p.R528K|ABLIM3_uc003lqb.2_Missense_Mutation_p.R520K|ABLIM3_uc003lqc.1_Missense_Mutation_p.R598K|ABLIM3_uc003lqd.1_Missense_Mutation_p.R536K|ABLIM3_uc003lqf.2_Missense_Mutation_p.R520K|ABLIM3_uc003lqe.1_Missense_Mutation_p.R520K	p.R631K	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	2143	+			631			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1892G>A	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009691	0.93346	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.68025	0.43;-0.3;0.48;0.48;-0.3;0.47;0.75	4.98	4.11	0.48088	Villin headpiece (3);	0.000000	0.85682	D	0.000000	T	0.72220	0.3433	L	0.38953	1.18	0.50632	D	0.999888	D;D;D;D	0.76494	0.997;0.959;0.959;0.999	D;D;D;D	0.77557	0.99;0.937;0.937;0.99	T	0.70655	-0.4812	10	0.34782	T	0.22	.	13.1739	0.59615	0.0777:0.0:0.9223:0.0	.	117;536;520;631	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	K	536;520;631;631;520;598;117;116	ENSP00000315841:R536K;ENSP00000348938:R520K;ENSP00000310309:R631K;ENSP00000425394:R631K;ENSP00000421183:R520K;ENSP00000420855:R598K;ENSP00000430150:R117K	ENSP00000310309:R631K	R	+	2	0	ABLIM3	148612547	1.000000	0.71417	0.976000	0.42696	0.940000	0.58332	9.295000	0.96095	1.467000	0.48044	0.650000	0.86243	AGA		0.488	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		5	75	0	0	0	0.000602	0	5	75				
GPRIN1	114787	broad.mit.edu	37	5	176025501	176025501	+	Silent	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:176025501C>A	ENST00000303991.4	-	2	1512	c.1335G>T	c.(1333-1335)gtG>gtT	p.V445V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	445					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCTTTCCCACAGACACAC	0.532																																							uc003meo.1		NA																	0				ovary(2)	2						c.(1333-1335)GTG>GTT		G protein-regulated inducer of neurite outgrowth							82.0	88.0	86.0					5																	176025501		2203	4300	6503	SO:0001819	synonymous_variant	114787					growth cone|plasma membrane		g.chr5:176025501C>A	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1335G>T	5.37:g.176025501C>A							p.V445V	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1510	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	445					C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	c.1335G>T	CCDS4405.1																																																																																				0.532	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		11	97	1	0	0.00010058	0.001368	0.0001161	11	97				
MAML1	9794	broad.mit.edu	37	5	179192956	179192956	+	Silent	SNP	A	A	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr5:179192956A>G	ENST00000292599.3	+	2	1208	c.945A>G	c.(943-945)ccA>ccG	p.P315P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGCTCTCCACAAGTGAGGG	0.552																																							uc003mkm.2		NA																	0				lung(4)|ovary(2)	6						c.(943-945)CCA>CCG		mastermind-like 1							44.0	50.0	48.0					5																	179192956		2201	4300	6501	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192956A>G	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.945A>G	5.37:g.179192956A>G						MAML1_uc003mkn.1_Silent_p.P315P	p.P315P	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1208	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	315						Silent	SNP	ENST00000292599.3	37	c.945A>G	CCDS34315.1																																																																																				0.552	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	64	0	0	0	0.009096	0	4	64				
RIPK1	8737	broad.mit.edu	37	6	3081338	3081338	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:3081338C>T	ENST00000259808.4	+	4	745	c.447C>T	c.(445-447)gaC>gaT	p.D149D	RIPK1_ENST00000380409.2_Silent_p.D149D|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Intron			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|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)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TTGATAATGACTTCCACATTA	0.378																																							uc010jni.2		NA																	0				large_intestine(3)|lung(1)|skin(1)	5						c.(445-447)GAC>GAT		receptor (TNFRSF)-interacting serine-threonine							128.0	110.0	116.0					6																	3081338		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3081338C>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.447C>T	6.37:g.3081338C>T						RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Silent_p.D84D|RIPK1_uc011dhs.1_Intron|RIPK1_uc003mux.2_Silent_p.D149D	p.D149D	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			4	679	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	149			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.447C>T	CCDS4482.1																																																																																				0.378	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		3	34	0	0	0	0.004672	0	3	34				
DEK	7913	broad.mit.edu	37	6	18222215	18222215	+	IGR	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:18222215G>A	ENST00000397239.3	-	0	3427				KDM1B_ENST00000297792.5_Missense_Mutation_p.A589T|KDM1B_ENST00000546309.2_Missense_Mutation_p.A112T|KDM1B_ENST00000388870.2_Missense_Mutation_p.A822T|KDM1B_ENST00000397244.1_Missense_Mutation_p.A590T	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene						chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CAAGATTGCAGCATTTTAAGA	0.408			T	NUP214	AML																																		uc003nco.1		NA		Dom	yes		6	6p23	7913		DEK oncogene (DNA binding)			L					0				skin(1)	1						c.(1852-1854)GCA>ACA		amine oxidase (flavin containing) domain 1							130.0	123.0	125.0					6																	18222215		2203	4300	6503	SO:0001628	intergenic_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18222215G>A	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319		6.37:g.18222215G>A						KDM1B_uc003ncn.1_Missense_Mutation_p.A589T|KDM1B_uc003ncp.1_Missense_Mutation_p.A174T|KDM1B_uc003ncq.1_Missense_Mutation_p.S172N	p.A618T	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			15	1927	+			821					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.1852G>A	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332213	0.81801	.	.	ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T;T	0.10573	3.01;2.86;2.86;2.86	5.95	5.95	0.96441	.	0.051468	0.85682	D	0.000000	T	0.09818	0.0241	N	0.16166	0.38	0.54753	D	0.999984	D;B	0.76494	0.999;0.087	D;B	0.70487	0.969;0.018	T	0.34030	-0.9845	10	0.33141	T	0.24	-26.3526	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	821;589	Q8NB78;A2A2C6	KDM1B_HUMAN;.	T	112;822;590;589;819	ENSP00000442670:A112T;ENSP00000373522:A822T;ENSP00000380419:A590T;ENSP00000297792:A589T	ENSP00000297792:A589T	A	+	1	0	KDM1B	18330194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.446000	0.80609	2.824000	0.97209	0.655000	0.94253	GCA		0.408	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			5	51	0	0	0	0.000602	0	5	51				
BTN2A2	10385	broad.mit.edu	37	6	26385379	26385379	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:26385379C>T	ENST00000356709.4	+	3	342	c.231C>T	c.(229-231)ccC>ccT	p.P77P	BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000416795.2_Silent_p.P77P|BTN2A2_ENST00000469230.1_Silent_p.P77P|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000432533.2_Silent_p.P77P	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	77	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AGTTCTCCCCCGCAGTGTTTG	0.532																																							uc003nhq.2		NA																	0					0						c.(229-231)CCC>CCT		butyrophilin, subfamily 2, member A2 isoform a							142.0	121.0	128.0					6																	26385379		2203	4300	6503	SO:0001819	synonymous_variant	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385379C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.231C>T	6.37:g.26385379C>T						BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Silent_p.P77P|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Silent_p.P77P|BTN2A2_uc003nht.2_Silent_p.P77P	p.P77P	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			3	317	+			77			Extracellular (Potential).|Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	ENST00000356709.4	37	c.231C>T	CCDS4606.1																																																																																				0.532	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			4	71	0	0	0	0.009096	0	4	71				
OR2J3	442186	broad.mit.edu	37	6	29079946	29079946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:29079946G>T	ENST00000377169.1	+	1	279	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K93N(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCCCGGAAAAGACCATCTCTT	0.478																																							uc011dll.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(277-279)AAG>AAT		olfactory receptor, family 2, subfamily J,							196.0	204.0	201.0					6																	29079946		1255	2571	3826	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079946G>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.279G>T	6.37:g.29079946G>T	ENSP00000366374:p.Lys93Asn						p.K93N	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	279	+			93			Extracellular (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.279G>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821690	0.16678	.	.	ENSG00000204701	ENST00000377169	T	0.38240	1.15	2.62	-3.7	0.04437	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41511	0.1162	M	0.77712	2.385	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.49995	-0.8879	9	0.87932	D	0	.	12.4895	0.55891	0.2689:0.0:0.7311:0.0	.	93	O76001	OR2J3_HUMAN	N	93	ENSP00000366374:K93N	ENSP00000366374:K93N	K	+	3	2	OR2J3	29187925	0.000000	0.05858	0.031000	0.17742	0.178000	0.23041	-1.988000	0.01482	-1.694000	0.01425	-1.021000	0.02439	AAG		0.478	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			12	159	1	0	2.80697e-09	0.010729	3.6889e-09	12	159				
ZBTB12	221527	broad.mit.edu	37	6	31869005	31869005	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:31869005G>A	ENST00000375527.2	-	2	253	c.78C>T	c.(76-78)ctC>ctT	p.L26L	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	26					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(1)|lung(5)|prostate(1)|skin(1)	10						CCTCTGCCCGGAGCTGGTTCA	0.657																																							uc003nyd.1		NA																	0					0						c.(76-78)CTC>CTT		zinc finger and BTB domain containing 12							25.0	25.0	25.0					6																	31869005		2203	4300	6503	SO:0001819	synonymous_variant	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31869005G>A	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.78C>T	6.37:g.31869005G>A						C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron	p.L26L	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN			2	254	-			26					B0UY00|Q5JQ98	Silent	SNP	ENST00000375527.2	37	c.78C>T	CCDS4727.1																																																																																				0.657	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		4	36	0	0	0	0.009096	0	4	36				
EGFL8	80864	broad.mit.edu	37	6	32134567	32134567	+	Missense_Mutation	SNP	C	C	A	rs533046653		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:32134567C>A	ENST00000395512.1	+	4	419	c.314C>A	c.(313-315)cCg>cAg	p.P105Q	EGFL8_ENST00000333845.6_Missense_Mutation_p.P105Q|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	105	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AAGCGGCACCCGGGGGCGCTC	0.667																																							uc003oab.1		NA																	0					0						c.(313-315)CCG>CAG		NG3 protein precursor							31.0	37.0	35.0					6																	32134567		2203	4299	6502	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134567C>A	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.314C>A	6.37:g.32134567C>A	ENSP00000378888:p.Pro105Gln					PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.P105Q	p.P105Q	NM_030652	NP_085155	Q99944	EGFL8_HUMAN			4	372	+			105			EMI.		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.314C>A	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852827	0.91355	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.89552	-2.53;-2.53;2.09	6.08	6.08	0.98989	EMI domain (1);	.	.	.	.	D	0.91290	0.7254	M	0.62723	1.935	0.50039	D	0.999848	D	0.89917	1.0	D	0.70227	0.968	D	0.88046	0.2784	9	0.22706	T	0.39	-12.9944	16.1635	0.81734	0.0:1.0:0.0:0.0	.	105	Q99944	EGFL8_HUMAN	Q	105	ENSP00000333380:P105Q;ENSP00000378888:P105Q;ENSP00000401694:P105Q	ENSP00000333380:P105Q	P	+	2	0	EGFL8	32242545	0.957000	0.32711	0.862000	0.33874	0.997000	0.91878	2.586000	0.46119	2.894000	0.99253	0.655000	0.94253	CCG		0.667	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		3	43	1	0	0.004672	0.004672	0.00511946	3	43				
CPNE5	57699	broad.mit.edu	37	6	36710137	36710137	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:36710137G>A	ENST00000244751.2	-	21	2314	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.R272C	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	564						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACGCGGGCGAATGCCCTGT	0.687																																							uc003omr.1		NA																	0				skin(1)	1						c.(1690-1692)CGC>TGC		copine V							97.0	85.0	89.0					6																	36710137		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36710137G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1690C>T	6.37:g.36710137G>A	ENSP00000244751:p.Arg564Cys					CPNE5_uc003omp.1_Missense_Mutation_p.R272C|CPNE5_uc010jwn.1_Missense_Mutation_p.R214C|CPNE5_uc003omq.1_Missense_Mutation_p.R214C	p.R564C	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN			21	1757	-			564					Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1690C>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736677	0.49045	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.12147	3.49;2.71	4.96	4.96	0.65561	.	0.138090	0.47093	D	0.000253	T	0.13372	0.0324	L	0.49778	1.585	0.47621	D	0.99947	D	0.61080	0.989	P	0.52343	0.696	T	0.00573	-1.1664	10	0.66056	D	0.02	.	11.2141	0.48817	0.0:0.0:0.8167:0.1833	.	564	Q9HCH3	CPNE5_HUMAN	C	564;272	ENSP00000244751:R564C;ENSP00000376885:R272C	ENSP00000244751:R564C	R	-	1	0	CPNE5	36818115	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	3.867000	0.56047	2.477000	0.83638	0.561000	0.74099	CGC		0.687	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		6	102	0	0	0	0.001168	0	6	102				
BTBD9	114781	broad.mit.edu	37	6	38562074	38562074	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:38562074G>C	ENST00000481247.1	-	3	366	c.215C>G	c.(214-216)tCt>tGt	p.S72C	BTBD9_ENST00000403056.1_Missense_Mutation_p.S72C|BTBD9_ENST00000408958.1_Missense_Mutation_p.S4C|BTBD9_ENST00000419706.2_Missense_Mutation_p.S13C|BTBD9_ENST00000314100.6_Missense_Mutation_p.S4C	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TTCAGGCTGAGACTCTCGCAT	0.428																																							uc003ooa.3		NA																	0					0						c.(214-216)TCT>TGT		BTB (POZ) domain containing 9 isoform a							76.0	79.0	78.0					6																	38562074		2030	4198	6228	SO:0001583	missense	114781				cell adhesion			g.chr6:38562074G>C		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.215C>G	6.37:g.38562074G>C	ENSP00000418751:p.Ser72Cys					BTBD9_uc003ony.3_Missense_Mutation_p.S4C|BTBD9_uc010jwv.2_Missense_Mutation_p.S4C|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.S72C	p.S72C	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN			4	791	-			72			BTB.		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.215C>G	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708221	0.89018	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958;ENST00000497373;ENST00000498633	T;T;T;T;T;T;T	0.74947	-0.89;-0.3;-0.3;-0.3;-0.89;0.75;-0.3	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85287	0.5662	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	D	0.86539	0.1827	10	0.87932	D	0	.	19.3029	0.94150	0.0:0.0:1.0:0.0	.	13;72	Q494V9;Q96Q07	.;BTBD9_HUMAN	C	4;72;13;72;4;4;72	ENSP00000323408:S4C;ENSP00000418751:S72C;ENSP00000415365:S13C;ENSP00000386121:S72C;ENSP00000386211:S4C;ENSP00000418201:S4C;ENSP00000419382:S72C	ENSP00000323408:S4C	S	-	2	0	BTBD9	38670052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.644000	0.89710	0.563000	0.77884	TCT		0.428	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		6	68	0	0	0	0.001168	0	6	68				
TREM2	54209	broad.mit.edu	37	6	41126515	41126515	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:41126515A>C	ENST00000373113.3	-	5	773	c.680T>G	c.(679-681)cTg>cGg	p.L227R	TREM2_ENST00000338469.3_Silent_p.A162A|TREM2_ENST00000373122.4_3'UTR	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	227					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGTGTCTCTCAGCCCTGCAAT	0.617																																							uc003opy.2		NA																	0				ovary(1)	1						c.(679-681)CTG>CGG		triggering receptor expressed on myeloid cells 2							128.0	117.0	120.0					6																	41126515		2203	4300	6503	SO:0001583	missense	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41126515A>C	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.680T>G	6.37:g.41126515A>C	ENSP00000362205:p.Leu227Arg					TREM2_uc003opz.2_3'UTR|TREM2_uc010jxl.1_Silent_p.A192A	p.L227R	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN			5	782	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		227			Cytoplasmic (Potential).		Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	c.680T>G	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	A	9.572	1.121228	0.20877	.	.	ENSG00000095970	ENST00000373113	T	0.41065	1.01	4.35	-6.36	0.01969	.	2.684040	0.01211	N	0.007840	T	0.07954	0.0199	L	0.40543	1.245	0.21604	N	0.999623	B	0.10296	0.003	B	0.06405	0.002	T	0.13308	-1.0514	10	0.09338	T	0.73	5.6571	1.3345	0.02142	0.1702:0.1327:0.3338:0.3633	.	227	Q9NZC2	TREM2_HUMAN	R	227	ENSP00000362205:L227R	ENSP00000362205:L227R	L	-	2	0	TREM2	41234493	0.000000	0.05858	0.001000	0.08648	0.289000	0.27227	-0.517000	0.06275	-1.149000	0.02843	0.519000	0.50382	CTG		0.617	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		10	93	0	0	0	0.006214	0	10	93				
GPR116	221395	broad.mit.edu	37	6	46826925	46826925	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:46826925G>C	ENST00000283296.7	-	17	3003	c.2715C>G	c.(2713-2715)ctC>ctG	p.L905L	GPR116_ENST00000265417.7_Silent_p.L905L|GPR116_ENST00000456426.2_Silent_p.L763L|GPR116_ENST00000362015.4_Silent_p.L905L|GPR116_ENST00000545669.1_Silent_p.L334L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	905					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGATGGCTTGGAGAGTTGGGA	0.453																																					NSCLC(59;410 1274 8751 36715 50546)	NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2713-2715)CTC>CTG		G-protein coupled receptor 116 precursor							101.0	95.0	97.0					6																	46826925		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826925G>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2715C>G	6.37:g.46826925G>C						GPR116_uc011dwj.1_Silent_p.L460L|GPR116_uc011dwk.1_Silent_p.L334L|GPR116_uc003oyp.3_Silent_p.L763L|GPR116_uc003oyq.3_Silent_p.L905L|GPR116_uc010jzi.1_Silent_p.L577L	p.L905L	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3004	-			905			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2715C>G	CCDS4919.1																																																																																				0.453	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		8	64	0	0	0	0.00308	0	8	64				
HMGCLL1	54511	broad.mit.edu	37	6	55378876	55378876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:55378876G>T	ENST00000398661.2	-	6	733	c.602C>A	c.(601-603)tCt>tAt	p.S201Y	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S171Y|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S139Y|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	201					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGTCTTGCAGACTTAACAAC	0.338																																					Ovarian(35;840 893 7837 15538 42887)	Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(601-603)TCT>TAT		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							85.0	79.0	81.0					6																	55378876		1814	4069	5883	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55378876G>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.602C>A	6.37:g.55378876G>T	ENSP00000381654:p.Ser201Tyr					HMGCLL1_uc003pco.2_Missense_Mutation_p.S171Y|HMGCLL1_uc010jzx.2_Missense_Mutation_p.S72Y|HMGCLL1_uc011dxc.1_Missense_Mutation_p.S139Y|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Missense_Mutation_p.S139Y	p.S201Y	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	761	-	Lung NSC(77;0.0875)		201					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.602C>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761929	0.69763	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000308161;ENST00000428842	D;D;D;D	0.97941	-4.62;-4.62;-4.62;-3.55	5.23	5.23	0.72850	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.056465	0.64402	D	0.000001	D	0.96030	0.8707	N	0.10916	0.065	0.80722	D	1	P;P;P;D	0.57571	0.933;0.919;0.799;0.98	P;P;P;P	0.60236	0.689;0.702;0.574;0.871	D	0.97802	1.0245	10	0.87932	D	0	-7.7359	19.1791	0.93615	0.0:0.0:1.0:0.0	.	139;139;171;201	F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	Y	171;201;139;139	ENSP00000274901:S171Y;ENSP00000381654:S201Y;ENSP00000309737:S139Y;ENSP00000412924:S139Y	ENSP00000274901:S171Y	S	-	2	0	HMGCLL1	55486835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.725000	0.68507	2.592000	0.87571	0.655000	0.94253	TCT		0.338	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		6	32	1	0	5.9392e-07	0.001168	7.45274e-07	6	32				
BAI3	577	broad.mit.edu	37	6	70070957	70070957	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:70070957G>T	ENST00000370598.1	+	29	4613	c.3792G>T	c.(3790-3792)gaG>gaT	p.E1264D	BAI3_ENST00000238918.8_Missense_Mutation_p.E470D|BAI3_ENST00000546190.1_Missense_Mutation_p.E228D	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1264					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTATGAATGAGCTTAGCAATC	0.423																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3790-3792)GAG>GAT		brain-specific angiogenesis inhibitor 3							92.0	85.0	87.0					6																	70070957		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70070957G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3792G>T	6.37:g.70070957G>T	ENSP00000359630:p.Glu1264Asp					BAI3_uc010kak.2_Missense_Mutation_p.E1264D|BAI3_uc011dxx.1_Missense_Mutation_p.E470D	p.E1264D	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4240	+		all_lung(197;0.212)	1264			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3792G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	6.227	0.410095	0.11812	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.47869	1.97;2.59;0.83	5.58	4.7	0.59300	.	0.052110	0.85682	D	0.000000	T	0.06554	0.0168	N	0.02266	-0.62	0.29211	N	0.874586	B;B	0.14012	0.0;0.009	B;B	0.08055	0.001;0.003	T	0.29212	-1.0019	10	0.13108	T	0.6	.	4.7526	0.13068	0.1587:0.2129:0.6283:0.0	.	470;1264	B7Z356;O60242	.;BAI3_HUMAN	D	1264;470;228	ENSP00000359630:E1264D;ENSP00000238918:E470D;ENSP00000441821:E228D	ENSP00000238918:E470D	E	+	3	2	BAI3	70127678	0.999000	0.42202	1.000000	0.80357	0.690000	0.40134	0.554000	0.23407	2.781000	0.95711	0.591000	0.81541	GAG		0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			11	33	1	0	4.68919e-08	0.008291	6.00031e-08	11	33				
CNR1	1268	broad.mit.edu	37	6	88854258	88854258	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:88854258C>T	ENST00000537554.1	-	2	4298	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	CNR1_ENST00000549890.1_Missense_Mutation_p.V246M|CNR1_ENST00000468898.1_Missense_Mutation_p.V213M|CNR1_ENST00000549716.1_Missense_Mutation_p.V185M|CNR1_ENST00000535130.1_Missense_Mutation_p.V246M|CNR1_ENST00000369501.2_Missense_Mutation_p.V246M|CNR1_ENST00000369499.2_Missense_Mutation_p.V246M|CNR1_ENST00000428600.2_Missense_Mutation_p.V246M|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	246				V -> A (in Ref. 5; AAD34320). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACGGCGATCACAATGGCTATG	0.527																																							uc011dzq.1		NA																	0				skin(2)	2						c.(736-738)GTG>ATG		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						81.0	74.0	77.0					6																	88854258		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854258C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.736G>A	6.37:g.88854258C>T	ENSP00000441046:p.Val246Met					CNR1_uc010kbz.2_Missense_Mutation_p.V246M|CNR1_uc011dzr.1_Missense_Mutation_p.V246M|CNR1_uc011dzs.1_Missense_Mutation_p.V246M|CNR1_uc003pmq.3_Missense_Mutation_p.V246M|CNR1_uc011dzt.1_Missense_Mutation_p.V246M|CNR1_uc010kca.2_Missense_Mutation_p.V213M	p.V246M	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4299	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	246	V -> A (in Ref. 5; AAD34320).		Helical; Name=4; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.736G>A	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407589	0.25378	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.171732	0.51477	D	0.000091	T	0.49029	0.1533	L	0.56124	1.755	0.46542	D	0.999098	P;P	0.42203	0.773;0.619	P;P	0.52514	0.592;0.701	T	0.45833	-0.9234	10	0.72032	D	0.01	.	20.2861	0.98535	0.0:1.0:0.0:0.0	.	213;246	P21554-3;P21554	.;CNR1_HUMAN	M	246;246;246;246;246;213;246;185	ENSP00000358513:V246M;ENSP00000442689:V246M;ENSP00000441046:V246M;ENSP00000358511:V246M;ENSP00000446819:V246M;ENSP00000420188:V213M;ENSP00000412192:V246M;ENSP00000449549:V185M	ENSP00000358511:V246M	V	-	1	0	CNR1	88910977	0.900000	0.30661	0.852000	0.33557	0.055000	0.15305	1.342000	0.33919	2.800000	0.96347	0.655000	0.94253	GTG		0.527	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			7	57	0	0	0	0.00308	0	7	57				
MANEA	79694	broad.mit.edu	37	6	96034645	96034645	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:96034645G>T	ENST00000358812.4	+	2	464	c.330G>T	c.(328-330)tgG>tgT	p.W110C	MANEA_ENST00000369293.1_Missense_Mutation_p.W110C	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	110	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATTACAGTTGGTATGGAAATC	0.363																																							uc003poo.1		NA																	0				ovary(2)|breast(1)	3						c.(328-330)TGG>TGT		mannosidase, endo-alpha							95.0	98.0	97.0					6																	96034645		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96034645G>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.330G>T	6.37:g.96034645G>T	ENSP00000351669:p.Trp110Cys					MANEA_uc003pon.2_Missense_Mutation_p.W110C	p.W110C	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	2	470	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	110			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.330G>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669943	0.67814	.	.	ENSG00000172469	ENST00000358812;ENST00000369293;ENST00000542500	.	.	.	5.98	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.958;0.983	D	0.85973	0.1478	9	0.87932	D	0	-6.1346	14.4143	0.67139	0.0703:0.0:0.9297:0.0	.	110;110	Q5SRI9;Q8WWX4	MANEA_HUMAN;.	C	110	.	ENSP00000351669:W110C	W	+	3	0	MANEA	96141366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.519000	0.81809	1.534000	0.49203	0.650000	0.86243	TGG		0.363	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		7	39	1	0	8.12818e-05	0.001984	9.4384e-05	7	39				
HSF2	3298	broad.mit.edu	37	6	122744757	122744757	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:122744757G>C	ENST00000368455.4	+	10	1294	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	HSF2_ENST00000452194.1_Missense_Mutation_p.D368H	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	368	Hydrophobic repeat HR-C.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGACAGTATTGACTGCAGTTT	0.343																																							uc003pyu.2		NA																	0					0						c.(1102-1104)GAC>CAC		heat shock transcription factor 2 isoform a							145.0	129.0	135.0					6																	122744757		2203	4300	6503	SO:0001583	missense	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122744757G>C	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1102G>C	6.37:g.122744757G>C	ENSP00000357440:p.Asp368His					HSF2_uc003pyv.2_Missense_Mutation_p.D368H	p.D368H	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	10	1289	+			368			Hydrophobic repeat HR-C.		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	c.1102G>C	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473126	0.84640	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.35	5.35	0.76521	Vertebrate heat shock transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79140	-0.1926	9	0.87932	D	0	-20.2017	19.4431	0.94831	0.0:0.0:1.0:0.0	.	368;368	Q03933-2;Q03933	.;HSF2_HUMAN	H	368	.	ENSP00000357440:D368H	D	+	1	0	HSF2	122786456	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.555000	0.90693	2.660000	0.90430	0.655000	0.94253	GAC		0.343	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		7	61	0	0	0	0.004482	0	7	61				
VTA1	51534	broad.mit.edu	37	6	142468513	142468513	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:142468513G>A	ENST00000367630.4	+	1	147	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	VTA1_ENST00000452973.2_Missense_Mutation_p.E4K|VTA1_ENST00000367621.1_Missense_Mutation_p.E4K	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	30	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CATGACAAGCGAGACCCTGTG	0.582											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003qiw.2		NA																	0					0						c.(88-90)CGA>CAA		Vps20-associated 1 homolog							87.0	76.0	79.0					6																	142468513		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142468513G>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.89G>A	6.37:g.142468513G>A	ENSP00000356602:p.Arg30Gln		OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1671	VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Missense_Mutation_p.E4K	p.R30Q	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	1	104	+	Breast(32;0.155)		30			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.89G>A	CCDS5197.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.339906|5.339906	0.95783|0.95783	.|.	.|.	ENSG00000009844|ENSG00000009844	ENST00000367621;ENST00000452973|ENST00000367630;ENST00000427932	T|T	0.42900|0.46451	0.96|0.87	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Vacuolar protein sorting-associate Vta1, N-terminal (1);	.|0.066107	.|0.64402	.|D	.|0.000009	T|T	0.48822|0.48822	0.1521|0.1521	M|M	0.76574|0.76574	2.34|2.34	0.26721|0.26721	N|N	0.970788|0.970788	B|D	0.02656|0.76494	0.0|0.999	B|D	0.01281|0.69654	0.0|0.965	T|T	0.49322|0.49322	-0.8952|-0.8952	9|10	0.02654|0.12766	T|T	1|0.61	-17.587|-17.587	16.487|16.487	0.84187|0.84187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4|30	E7ETQ7|Q9NP79	.|VTA1_HUMAN	K|Q	4|30;31	ENSP00000356593:E4K|ENSP00000356602:R30Q	ENSP00000356593:E4K|ENSP00000356602:R30Q	E|R	+|+	1|2	0|0	VTA1|VTA1	142510206|142510206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.534000|6.534000	0.73833|0.73833	2.632000|2.632000	0.89209|0.89209	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.582	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		3	23	0	0	0	0.004672	0	3	23				
SYNJ2	8871	broad.mit.edu	37	6	158492658	158492658	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:158492658G>C	ENST00000355585.4	+	15	2040	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N	SYNJ2_ENST00000367122.2_Missense_Mutation_p.K655N|SYNJ2_ENST00000367121.3_Missense_Mutation_p.K655N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	655					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACACAGTGAAGACGGGCATGG	0.612																																							uc003qqx.1		NA																	0				skin(1)	1						c.(1963-1965)AAG>AAC		synaptojanin 2							69.0	69.0	69.0					6																	158492658		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158492658G>C	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1965G>C	6.37:g.158492658G>C	ENSP00000347792:p.Lys655Asn					SYNJ2_uc003qqw.1_Missense_Mutation_p.K655N|SYNJ2_uc003qqy.1_Missense_Mutation_p.K368N|SYNJ2_uc003qqz.1_Missense_Mutation_p.K272N|SYNJ2_uc003qra.1_5'UTR	p.K655N	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	15	2040	+			655			Catalytic (By similarity).		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1965G>C	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989775	0.74589	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.95272	-3.66;-3.66;-3.66	6.07	5.21	0.72293	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000005	D	0.97374	0.9141	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98050	1.0387	10	0.87932	D	0	.	11.4946	0.50400	0.1365:0.0:0.8635:0.0	.	655;655	O15056;O15056-3	SYNJ2_HUMAN;.	N	655	ENSP00000356089:K655N;ENSP00000356088:K655N;ENSP00000347792:K655N	ENSP00000347792:K655N	K	+	3	2	SYNJ2	158412646	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	3.584000	0.53936	2.340000	0.79590	0.529000	0.55759	AAG		0.612	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			6	75	0	0	0	0.001984	0	6	75				
TAGAP	117289	broad.mit.edu	37	6	159456967	159456967	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:159456967G>T	ENST00000367066.3	-	10	2419	c.2088C>A	c.(2086-2088)acC>acA	p.T696T	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Silent_p.T518T|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	696					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACTCGGAGACGGTCCTCAGCG	0.582																																							uc003qrz.2		NA																	0				ovary(1)	1						c.(2086-2088)ACC>ACA		T-cell activation Rho GTPase-activating protein							67.0	62.0	64.0					6																	159456967		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159456967G>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2088C>A	6.37:g.159456967G>T						TAGAP_uc011eft.1_Silent_p.T633T|TAGAP_uc003qsa.2_Silent_p.T518T	p.T696T	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2420	-		Breast(66;0.000776)|Ovarian(120;0.0303)	696					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.2088C>A	CCDS5261.1																																																																																				0.582	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		10	38	1	0	2.17888e-05	0.006214	2.592e-05	10	38				
PLG	5340	broad.mit.edu	37	6	161127552	161127552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr6:161127552G>T	ENST00000308192.9	+	2	226	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Nonsense_Mutation_p.E55*	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	55	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAATGTGAGGAGGACGAAGA	0.428																																							uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(163-165)GAG>TAG		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						141.0	143.0	142.0					6																	161127552		2203	4300	6503	SO:0001587	stop_gained	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161127552G>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.163G>T	6.37:g.161127552G>T	ENSP00000308938:p.Glu55*						p.E55*	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	2	226	+			55			PAN.		Q15146|Q5TEH4|Q6PA00	Nonsense_Mutation	SNP	ENST00000308192.9	37	c.163G>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.268414	0.80469	.	.	ENSG00000122194	ENST00000366924;ENST00000308192;ENST00000418964	.	.	.	4.74	3.85	0.44370	.	0.785568	0.10160	U	0.708417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	11.0203	0.47713	0.0953:0.0:0.9047:0.0	.	.	.	.	X	55	.	ENSP00000308938:E55X	E	+	1	0	PLG	161047542	0.967000	0.33354	0.439000	0.26833	0.444000	0.32077	1.892000	0.39748	2.335000	0.79485	0.655000	0.94253	GAG		0.428	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		18	99	1	0	1.01871e-10	0.008871	1.35712e-10	18	99				
TTYH3	80727	broad.mit.edu	37	7	2696097	2696097	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:2696097C>T	ENST00000258796.7	+	11	1384	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	TTYH3_ENST00000407643.1_Silent_p.L361L|TTYH3_ENST00000403167.1_Silent_p.L222L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	393					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		ACCTGGCCCTCTTCTCCTTCG	0.627																																							uc003smp.2		NA																	0					0						c.(1177-1179)CTC>CTT		tweety 3							96.0	85.0	89.0					7																	2696097		2203	4300	6503	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2696097C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1179C>T	7.37:g.2696097C>T						TTYH3_uc010ksn.2_Silent_p.L113L|TTYH3_uc003smq.2_Silent_p.L222L	p.L393L	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	11	1366	+		Ovarian(82;0.0112)	393			Helical; Name=5; (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.1179C>T	CCDS34588.1																																																																																				0.627	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		10	84	0	0	0	0.006214	0	10	84				
GNA12	2768	broad.mit.edu	37	7	2771079	2771079	+	Silent	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:2771079G>A	ENST00000275364.3	-	4	1044	c.882C>T	c.(880-882)ttC>ttT	p.F294F	GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Silent_p.F146F|GNA12_ENST00000544127.1_Silent_p.F201F|GNA12_ENST00000407904.3_Silent_p.F235F|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Silent_p.F218F	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	294					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TCTTGTTGAGGAAGAGAATGA	0.557																																							uc003smu.2		NA																	0				ovary(1)	1						c.(880-882)TTC>TTT		guanine nucleotide binding protein (G protein)							142.0	105.0	118.0					7																	2771079		2203	4300	6503	SO:0001819	synonymous_variant	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2771079G>A	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.882C>T	7.37:g.2771079G>A						GNA12_uc011jwb.1_Silent_p.F277F|GNA12_uc003smt.2_Silent_p.F235F	p.F294F	NM_007353	NP_031379	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	4	1046	-		Ovarian(82;0.0112)	294					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	ENST00000275364.3	37	c.882C>T	CCDS5335.1																																																																																				0.557	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		6	64	0	0	0	0.001168	0	6	64				
ADCY1	107	broad.mit.edu	37	7	45614412	45614412	+	Silent	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:45614412G>T	ENST00000297323.7	+	1	292	c.270G>T	c.(268-270)ctG>ctT	p.L90L	ADCY1_ENST00000432715.1_Intron	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	90					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)	cgcccggccTGGCCAAGGGCT	0.751																																							uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(268-270)CTG>CTT		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						11.0	13.0	12.0					7																	45614412		2038	4121	6159	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.chr7:45614412G>T	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.270G>T	7.37:g.45614412G>T						ADCY1_uc003tnd.2_Intron	p.L90L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			1	288	+			90			Helical; (Potential).		A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.270G>T	CCDS34631.1																																																																																				0.751	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		4	20	1	0	0.00024832	0.009096	0.000283274	4	20				
TRRAP	8295	broad.mit.edu	37	7	98528293	98528293	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:98528293G>C	ENST00000359863.4	+	25	3640	c.3431G>C	c.(3430-3432)cGc>cCc	p.R1144P	TRRAP_ENST00000446306.3_Missense_Mutation_p.R1143P|TRRAP_ENST00000355540.3_Missense_Mutation_p.R1144P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1144					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCGTGGAGCGCCTGTGTGCA	0.493																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(3430-3432)CGC>CCC		transformation/transcription domain-associated							176.0	175.0	175.0					7																	98528293		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98528293G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3431G>C	7.37:g.98528293G>C	ENSP00000352925:p.Arg1144Pro					TRRAP_uc011kis.1_Missense_Mutation_p.R1144P|TRRAP_uc003upr.2_Missense_Mutation_p.R836P	p.R1144P	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		25	3640	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1144					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3431G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.901862|4.901862	0.92035|0.92035	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.64085	.|3.64;-0.08	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78240|0.78240	0.4252|0.4252	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.72338	.|0.974;0.929;0.977	T|T	0.78952|0.78952	-0.2001|-0.2001	5|10	.|0.72032	.|D	.|0.01	.|.	19.8174|19.8174	0.96576|0.96576	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1144;858;1144	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	P|P	859|1144;1144;1142	.|ENSP00000352925:R1144P;ENSP00000347733:R1144P	.|ENSP00000347733:R1144P	A|R	+|+	1|2	0|0	TRRAP|TRRAP	98366229|98366229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.709000|0.709000	0.40893|0.40893	9.809000|9.809000	0.99208|0.99208	2.757000|2.757000	0.94681|0.94681	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.493	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		16	186	0	0	0	0.004007	0	16	186				
ZKSCAN1	7586	broad.mit.edu	37	7	99621545	99621545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:99621545C>T	ENST00000324306.6	+	2	650	c.416C>T	c.(415-417)tCa>tTa	p.S139L	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S103L	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTTGATTTATCAGGACAACAG	0.507																																							uc003usk.1		NA																	0				ovary(3)	3						c.(415-417)TCA>TTA		zinc finger protein 36							52.0	53.0	53.0					7																	99621545		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621545C>T	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.416C>T	7.37:g.99621545C>T	ENSP00000323148:p.Ser139Leu					ZKSCAN1_uc003usj.2_Missense_Mutation_p.S138L|ZKSCAN1_uc003usl.1_Missense_Mutation_p.S103L|ZKSCAN1_uc003usm.1_Intron	p.S139L	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	635	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		139					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.416C>T	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756860	0.31137	.	.	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.04406	3.63;3.63	4.64	4.64	0.57946	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.000000	0.42053	D	0.000768	T	0.10165	0.0249	N	0.20845	0.615	0.80722	D	1	D;D	0.64830	0.985;0.994	D;D	0.75020	0.966;0.985	T	0.21724	-1.0237	10	0.48119	T	0.1	.	12.8711	0.57965	0.0:1.0:0.0:0.0	.	139;103	P17029;E9PC66	ZKSC1_HUMAN;.	L	139;103	ENSP00000323148:S139L;ENSP00000409172:S103L	ENSP00000323148:S139L	S	+	2	0	ZKSCAN1	99459481	0.046000	0.20272	0.991000	0.47740	0.003000	0.03518	1.238000	0.32707	2.402000	0.81655	0.491000	0.48974	TCA		0.507	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		7	68	0	0	0	0.00308	0	7	68				
PIK3CG	5294	broad.mit.edu	37	7	106509705	106509705	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:106509705C>G	ENST00000359195.3	+	2	2009	c.1699C>G	c.(1699-1701)Ctc>Gtc	p.L567V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.L567V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.L567V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	567	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACTTAACCCTCTCACAGCAGA	0.502																																							uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1699-1701)CTC>GTC		phosphoinositide-3-kinase, catalytic, gamma							69.0	64.0	66.0					7																	106509705		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509705C>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1699C>G	7.37:g.106509705C>G	ENSP00000352121:p.Leu567Val					PIK3CG_uc003vdu.2_Missense_Mutation_p.L567V|PIK3CG_uc003vdw.2_Missense_Mutation_p.L567V	p.L567V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1784	+			567					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1699C>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703548	0.68501	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.71934	-0.61;-0.61;-0.61	5.81	5.81	0.92471	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.89232	0.3578	10	0.72032	D	0.01	-26.714	20.0833	0.97789	0.0:1.0:0.0:0.0	.	567	P48736	PK3CG_HUMAN	V	567	ENSP00000392258:L567V;ENSP00000419260:L567V;ENSP00000352121:L567V	ENSP00000352121:L567V	L	+	1	0	PIK3CG	106296941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.924000	0.70054	2.756000	0.94617	0.655000	0.94253	CTC		0.502	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			5	55	0	0	0	0.000602	0	5	55				
CADPS2	93664	broad.mit.edu	37	7	122131426	122131426	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:122131426C>T	ENST00000449022.2	-	10	1610	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	CADPS2_ENST00000313070.7_Missense_Mutation_p.E531K|CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000334010.7_Missense_Mutation_p.E531K|CADPS2_ENST00000412584.2_Missense_Mutation_p.E531K	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	531	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTGTGGTTCAGACTTCTTT	0.353																																							uc010lkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1591-1593)GAA>AAA		Ca2+-dependent activator protein for secretion 2							114.0	115.0	115.0					7																	122131426		1837	4082	5919	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122131426C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1591G>A	7.37:g.122131426C>T	ENSP00000398481:p.Glu531Lys					CADPS2_uc003vkg.3_Missense_Mutation_p.E231K|CADPS2_uc010lkq.2_Missense_Mutation_p.E531K	p.E531K	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			10	1754	-			531			PH.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1591G>A	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316675	0.95682	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.63	5.63	0.86233	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.69823	2.125	0.80722	D	1	D;P;D	0.63046	0.992;0.808;0.981	D;B;D	0.74674	0.974;0.421;0.984	D	0.86967	0.2095	10	0.87932	D	0	-24.0739	19.6841	0.95974	0.0:1.0:0.0:0.0	.	531;531;531	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	K	531;531;531;498;531;531	ENSP00000325581:E531K;ENSP00000333940:E531K;ENSP00000400401:E531K;ENSP00000398481:E531K	ENSP00000325581:E531K	E	-	1	0	CADPS2	121918662	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.818000	0.86416	2.651000	0.90000	0.650000	0.86243	GAA		0.353	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		3	6	0	0	0	0.004672	0	3	6				
ADCK2	90956	broad.mit.edu	37	7	140390572	140390572	+	Missense_Mutation	SNP	A	A	C	rs561363159	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:140390572A>C	ENST00000072869.4	+	7	1877	c.1699A>C	c.(1699-1701)Agc>Cgc	p.S567R	ADCK2_ENST00000476491.1_Missense_Mutation_p.S567R|NDUFB2_ENST00000482954.1_5'Flank	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	567	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCATGTGTCCAGCCTTCTCTC	0.547													A|||	2	0.000399361	0.0	0.0029	5008	,	,		13625	0.0		0.0	False		,,,				2504	0.0						uc003vvy.1		NA																	0					0						c.(1699-1701)AGC>CGC		aarF domain containing kinase 2							336.0	323.0	328.0					7																	140390572		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140390572A>C	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1699A>C	7.37:g.140390572A>C	ENSP00000072869:p.Ser567Arg					ADCK2_uc003vvz.2_Missense_Mutation_p.S567R	p.S567R	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN			7	1877	+	Melanoma(164;0.00956)		567			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1699A>C	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.938|9.938	1.216707|1.216707	0.22373|0.22373	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000483369|ENST00000072869;ENST00000476491;ENST00000473512	.|T;T;T	.|0.29917	.|1.55;1.55;1.55	4.42|4.42	4.42|4.42	0.53409|0.53409	.|.	.|0.421060	.|0.24806	.|N	.|0.035459	T|T	0.24160|0.24160	0.0585|0.0585	L|L	0.45137|0.45137	1.4|1.4	0.35725|0.35725	D|D	0.817482|0.817482	.|B;B	.|0.23490	.|0.086;0.02	.|B;B	.|0.15484	.|0.013;0.007	T|T	0.19353|0.19353	-1.0308|-1.0308	5|10	.|0.16420	.|T	.|0.52	-6.477|-6.477	12.4158|12.4158	0.55492|0.55492	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|567;567	.|C9JE15;Q7Z695	.|.;ADCK2_HUMAN	P|R	404|567;567;164	.|ENSP00000072869:S567R;ENSP00000420512:S567R;ENSP00000420288:S164R	.|ENSP00000072869:S567R	Q|S	+|+	2|1	0|0	ADCK2|ADCK2	140037041|140037041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.527000|0.527000	0.34593|0.34593	2.762000|2.762000	0.47597|0.47597	1.861000|1.861000	0.53984|0.53984	0.448000|0.448000	0.29417|0.29417	CAG|AGC		0.547	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		26	294	0	0	0	0.00632	0	26	294				
SSPO	23145	broad.mit.edu	37	7	149528279	149528279	+	RNA	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr7:149528279G>T	ENST00000378016.2	+	0	15198							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCACCAAAGGGACCTGTTACC	0.617																																							uc010lpk.2		NA																	0					0						c.(15193-15195)GGG>GGT		SCO-spondin precursor							51.0	55.0	54.0					7																	149528279		1934	4132	6066			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149528279G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149528279G>T						SSPO_uc003wgh.2_RNA	p.G5065G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		110	15195	+	Melanoma(164;0.165)|Ovarian(565;0.177)		5065			CTCK.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.15195G>T																																																																																					0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	24	1	0	1.23904e-05	0.000602	1.49685e-05	4	24				
RP1L1	94137	broad.mit.edu	37	8	10468390	10468390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:10468390C>A	ENST00000382483.3	-	4	3441	c.3218G>T	c.(3217-3219)cGg>cTg	p.R1073L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1073					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGAAGTGCCCGCAGGCTCAC	0.697																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3217-3219)CGG>CTG		retinitis pigmentosa 1-like 1							12.0	14.0	13.0					8																	10468390		1863	4070	5933	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468390C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3218G>T	8.37:g.10468390C>A	ENSP00000371923:p.Arg1073Leu						p.R1073L	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3447	-			1073					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3218G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	9.175	1.022161	0.19433	.	.	ENSG00000183638	ENST00000382483	T	0.76316	-1.01	4.49	1.64	0.23874	.	0.979193	0.08297	N	0.967544	T	0.58991	0.2161	N	0.14661	0.345	0.09310	N	1	P	0.36048	0.534	B	0.33392	0.163	T	0.49173	-0.8967	10	0.38643	T	0.18	2.6781	6.5423	0.22387	0.0:0.589:0.0:0.411	.	1073	A6NKC6	.	L	1073	ENSP00000371923:R1073L	ENSP00000371923:R1073L	R	-	2	0	RP1L1	10505800	0.280000	0.24249	0.000000	0.03702	0.020000	0.10135	0.530000	0.23036	0.520000	0.28426	0.491000	0.48974	CGG		0.697	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			5	21	1	0	0.000602214	0.000602	0.000673165	5	21				
LZTS1	11178	broad.mit.edu	37	8	20110421	20110422	+	Nonsense_Mutation	DNP	CC	CC	AA	rs147904321		TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:20110421_20110422CC>AA	ENST00000381569.1	-	3	1377_1378	c.1020_1021GG>TT	c.(1018-1023)caGGag>caTTag	p.340_341QE>H*	LZTS1_ENST00000265801.6_Nonsense_Mutation_p.340_341QE>H*|LZTS1_ENST00000522290.1_Nonsense_Mutation_p.340_341QE>H*			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	340					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCCGCTTCTCCTGCTGAAGCT	0.644																																							uc003wzr.2		NA																	0				ovary(1)	1						c.(1018-1023)CAGGAG>CATTAG		leucine zipper, putative tumor suppressor 1																																				SO:0001587	stop_gained	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110421_20110422CC>AA	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1020_1021delinsAA	8.37:g.20110421_20110422delinsAA	ENSP00000370981:p.Q340_E341delinsH*					LZTS1_uc010ltg.1_Nonsense_Mutation_p.340_341QE>H*	p.340_341QE>H*	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	1131_1132	-			340_341			Potential.		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Nonsense_Mutation	DNP	ENST00000381569.1	37	c.1020_1021GG>TT	CCDS6015.1																																																																																				0.644	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	32	0	0	0	0.004672	0	4	32				
KCNU1	157855	broad.mit.edu	37	8	36766899	36766899	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:36766899C>G	ENST00000399881.3	+	21	2214	c.2177C>G	c.(2176-2178)tCa>tGa	p.S726*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	726	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATGCCCACTCAGCCCCGATG	0.468																																							uc010lvw.2		NA																	0				ovary(1)	1						c.(2176-2178)TCA>TGA		potassium channel, subfamily U, member 1							233.0	226.0	228.0					8																	36766899		1872	4116	5988	SO:0001587	stop_gained	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766899C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2177C>G	8.37:g.36766899C>G	ENSP00000382770:p.Ser726*					KCNU1_uc003xjw.2_RNA	p.S726*	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2264	+			726			Segment S9.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000399881.3	37	c.2177C>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632082	0.96682	.	.	ENSG00000215262	ENST00000399881	.	.	.	5.8	5.8	0.92144	.	0.448326	0.16600	U	0.207380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.6708	19.6593	0.95859	0.0:1.0:0.0:0.0	.	.	.	.	X	726	.	ENSP00000382770:S726X	S	+	2	0	KCNU1	36886057	1.000000	0.71417	0.030000	0.17652	0.090000	0.18270	7.228000	0.78079	2.745000	0.94114	0.655000	0.94253	TCA		0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		33	236	0	0	0	0.004289	0	33	236				
TRIB1	10221	broad.mit.edu	37	8	126448348	126448348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:126448348G>T	ENST00000519576.1	+	2	324	c.61G>T	c.(61-63)Gag>Tag	p.E21*	TRIB1_ENST00000520847.1_Nonsense_Mutation_p.E86*|TRIB1_ENST00000311922.3_Nonsense_Mutation_p.E252*					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CGTGAGCCCTGAGATCCTCAA	0.532																																							uc003yrx.2		NA																	0				lung(1)	1						c.(754-756)GAG>TAG		G-protein-coupled receptor induced protein							85.0	75.0	78.0					8																	126448348		2203	4300	6503	SO:0001587	stop_gained	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126448348G>T	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.61G>T	8.37:g.126448348G>T	ENSP00000428879:p.Glu21*					TRIB1_uc011lis.1_Nonsense_Mutation_p.E86*|TRIB1_uc010mdn.2_Nonsense_Mutation_p.E21*	p.E252*	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		3	1336	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		252			Protein kinase.			Nonsense_Mutation	SNP	ENST00000519576.1	37	c.754G>T		.	.	.	.	.	.	.	.	.	.	G	38	6.966866	0.97967	.	.	ENSG00000173334	ENST00000311922;ENST00000520847;ENST00000519576	.	.	.	5.67	5.67	0.87782	.	0.000000	0.33670	U	0.004662	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.2851	19.3928	0.94592	0.0:0.0:1.0:0.0	.	.	.	.	X	252;86;21	.	ENSP00000312150:E252X	E	+	1	0	TRIB1	126517530	1.000000	0.71417	0.993000	0.49108	0.791000	0.44710	9.869000	0.99810	2.677000	0.91161	0.561000	0.74099	GAG		0.532	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195		5	62	1	0	1.23904e-05	0.000602	1.49685e-05	5	62				
TMEM71	137835	broad.mit.edu	37	8	133759318	133759318	+	Silent	SNP	A	A	G	rs74775484	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:133759318A>G	ENST00000377901.4	-	5	499	c.357T>C	c.(355-357)tcT>tcC	p.S119S	TMEM71_ENST00000356838.3_Intron|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000523829.1_Silent_p.S119S	NM_001145153.1	NP_001138625.1	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	119						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGTTGAAGAGAGAAGAAAAGG	0.393													A|||	210	0.0419329	0.0076	0.0937	5008	,	,		20297	0.0		0.0974	False		,,,				2504	0.0378						uc003ytp.2		NA																	0				ovary(2)	2						c.(355-357)TCT>TCC		transmembrane protein 71 isoform 1		A	,	82,4324	70.3+/-108.2	1,80,2122	78.0	71.0	74.0		357,	-1.5	1.0	8	dbSNP_132	74	1029,7571	214.1+/-253.8	61,907,3332	no	coding-synonymous,intron	TMEM71	NM_001145153.1,NM_144649.2	,	62,987,5454	GG,GA,AA		11.9651,1.8611,8.5422	,	119/233,	133759318	1111,11895	2203	4300	6503	SO:0001819	synonymous_variant	137835					integral to membrane		g.chr8:133759318A>G	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000377901.4:c.357T>C	8.37:g.133759318A>G						TMEM71_uc003ytm.1_5'UTR|TMEM71_uc003ytn.2_Intron|TMEM71_uc003yto.2_Silent_p.S119S	p.S119S	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		5	586	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		119					Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	ENST00000377901.4	37	c.357T>C	CCDS47921.1																																																																																				0.393	TMEM71-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379592.1	NM_144649		3	54	0	0	0	0.004672	0	3	54				
TG	7038	broad.mit.edu	37	8	133883593	133883593	+	Splice_Site	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:133883593G>T	ENST00000220616.4	+	4	315	c.275G>T	c.(274-276)tGt>tTt	p.C92F	TG_ENST00000377869.1_Splice_Site_p.C92F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	92	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTACCCACAGGTCTGTCATTT	0.507																																							uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(274-276)TGT>TTT		thyroglobulin precursor							172.0	149.0	157.0					8																	133883593		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883593G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.275-1G>T	8.37:g.133883593G>T							p.C92F	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	4	316	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	92			Thyroglobulin type-1 1.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.275G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881441	0.51801	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.89617	-2.54;-2.54	5.58	5.58	0.84498	Thyroglobulin type-1 (4);	0.000000	0.64402	D	0.000003	D	0.95822	0.8640	M	0.92970	3.365	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96551	0.9408	9	.	.	.	.	16.7298	0.85432	0.0:0.0:1.0:0.0	.	92	P01266	THYG_HUMAN	F	92	ENSP00000367100:C92F;ENSP00000220616:C92F	.	C	+	2	0	TG	133952775	1.000000	0.71417	0.985000	0.45067	0.132000	0.20833	8.483000	0.90442	2.630000	0.89119	0.460000	0.39030	TGT		0.507	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Missense_Mutation	13	95	1	0	1.5842e-08	0.001855	2.06105e-08	13	95				
EPPK1	83481	broad.mit.edu	37	8	144945369	144945369	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:144945369C>G	ENST00000525985.1	-	2	2124	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q				P58107	EPIPL_HUMAN	epiplakin 1	685						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCGCGCTCAGCCGACAGC	0.612																																							uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(2053-2055)GAG>CAG		epiplakin 1							47.0	50.0	49.0					8																	144945369		2184	4278	6462	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945369C>G	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2053G>C	8.37:g.144945369C>G	ENSP00000436337:p.Glu685Gln						p.E685Q	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	2066	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		685			Plectin 13.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2053G>C		.	.	.	.	.	.	.	.	.	.	C	15.68	2.906530	0.52333	.	.	ENSG00000227184	ENST00000525985	T	0.72725	-0.68	5.06	5.06	0.68205	.	.	.	.	.	T	0.78259	0.4255	L	0.52759	1.655	0.42346	D	0.992356	D	0.89917	1.0	D	0.91635	0.999	T	0.71892	-0.4455	9	0.11794	T	0.64	.	15.9742	0.80049	0.0:1.0:0.0:0.0	.	685	E9PPU0	.	Q	685	ENSP00000436337:E685Q	ENSP00000436337:E685Q	E	-	1	0	EPPK1	145017357	1.000000	0.71417	0.955000	0.39395	0.013000	0.08279	4.679000	0.61649	2.643000	0.89663	0.655000	0.94253	GAG		0.612	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	50	0	0	0	0.001168	0	6	50				
GPT	2875	broad.mit.edu	37	8	145730156	145730156	+	Silent	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:145730156C>G	ENST00000528431.1	+	4	412	c.255C>G	c.(253-255)gtC>gtG	p.V85V	GPT_ENST00000394955.2_Silent_p.V85V			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	85					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CTTCCCAGGTCTTGGCCCTCT	0.647																																							uc011lli.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(253-255)GTC>GTG		glutamic pyruvate transaminase	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						169.0	186.0	180.0					8																	145730156		2203	4300	6503	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145730156C>G		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.255C>G	8.37:g.145730156C>G						GPT_uc011llj.1_Silent_p.V85V|GPT_uc003zdh.3_Silent_p.V85V	p.V85V	NM_005309	NP_005300	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	412	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		85					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.255C>G	CCDS6430.1																																																																																				0.647	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			29	296	0	0	0	0.009535	0	29	296				
ARHGAP39	80728	broad.mit.edu	37	8	145770662	145770662	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:145770662C>A	ENST00000276826.5	-	5	2693	c.2492G>T	c.(2491-2493)cGg>cTg	p.R831L	ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R831L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R831L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	831	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GTCCATGTGCCGGTAGATGTA	0.627																																							uc003zdt.1		NA																	0					0						c.(2491-2493)CGG>CTG		KIAA1688 protein							88.0	85.0	86.0					8																	145770662		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145770662C>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2492G>T	8.37:g.145770662C>A	ENSP00000276826:p.Arg831Leu					ARHGAP39_uc011llk.1_Missense_Mutation_p.R831L|ARHGAP39_uc003zds.1_Missense_Mutation_p.R831L	p.R831L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			7	3047	-			831			MyTH4.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2492G>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.120760	0.77436	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	D;D;D	0.92249	-3.0;-3.0;-3.0	5.49	5.49	0.81192	MyTH4 domain (2);	0.068760	0.56097	D	0.000022	D	0.94427	0.8207	M	0.64997	1.995	0.51482	D	0.999921	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.983	D	0.94218	0.7465	10	0.72032	D	0.01	-47.6051	10.3263	0.43796	0.0:0.9103:0.0:0.0897	.	831;831	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	L	831	ENSP00000276826:R831L;ENSP00000366522:R831L;ENSP00000445075:R831L	ENSP00000276826:R831L	R	-	2	0	ARHGAP39	145741470	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.944000	0.70219	2.577000	0.86979	0.650000	0.86243	CGG		0.627	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			12	46	1	0	3.07112e-06	0.010729	3.78058e-06	12	46				
RIC1	57589	broad.mit.edu	37	9	5763244	5763244	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:5763244G>C	ENST00000414202.2	+	19	2408	c.2217G>C	c.(2215-2217)ctG>ctC	p.L739L	KIAA1432_ENST00000418622.3_Silent_p.L660L|KIAA1432_ENST00000251879.6_Silent_p.L739L|KIAA1432_ENST00000449720.2_Silent_p.L623L|KIAA1432_ENST00000381532.2_Silent_p.L660L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCCTCTGGCTGAGCTGTGGTG	0.532																																							uc003zji.2		NA																	0					0						c.(1978-1980)CTG>CTC		connexin 43-interacting protein 150 isoform a							169.0	147.0	154.0					9																	5763244		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5763244G>C																												ENST00000414202.2:c.2217G>C	9.37:g.5763244G>C						KIAA1432_uc003zjh.2_Silent_p.L660L|KIAA1432_uc003zjl.3_Silent_p.L623L|KIAA1432_uc003zjj.1_Silent_p.L202L	p.L660L	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	2073	+		Acute lymphoblastic leukemia(23;0.154)	739						Silent	SNP	ENST00000414202.2	37	c.1980G>C	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560320	0.13498	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.78	3.66	0.41972	.	.	.	.	.	T	0.58906	0.2155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52815	-0.8525	4	.	.	.	-9.8056	8.9978	0.36063	0.0986:0.3333:0.5681:0.0	.	.	.	.	Q	631	.	.	E	+	1	0	KIAA1432	5753244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.150000	0.42254	0.568000	0.29311	0.561000	0.74099	GAG		0.532	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			5	114	0	0	0	0.000602	0	5	114				
PRUNE2	158471	broad.mit.edu	37	9	79520851	79520851	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:79520851G>C	ENST00000376718.3	-	1	152	c.29C>G	c.(28-30)tCt>tGt	p.S10C	PRUNE2_ENST00000428286.1_De_novo_Start_OutOfFrame|PRUNE2_ENST00000376713.3_Missense_Mutation_p.S10C	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	10					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						TACCAGTTTAGATTTGGCGCG	0.532																																							uc010mpk.2		NA																	0					0						c.(28-30)TCT>TGT		prune homolog 2							136.0	121.0	126.0					9																	79520851		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79520851G>C	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.29C>G	9.37:g.79520851G>C	ENSP00000365908:p.Ser10Cys					PRUNE2_uc004akn.2_Missense_Mutation_p.S10C	p.S10C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			1	153	-			10					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.29C>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176376	0.78564	.	.	ENSG00000106772	ENST00000376718;ENST00000376713	T;T	0.14516	2.5;2.5	5.31	4.41	0.53225	.	0.563706	0.17258	N	0.180872	T	0.27278	0.0669	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.64595	0.927;0.635	T	0.00832	-1.1548	10	0.56958	D	0.05	.	11.2498	0.49020	0.087:0.0:0.913:0.0	.	10;10	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	C	10	ENSP00000365908:S10C;ENSP00000365903:S10C	ENSP00000365903:S10C	S	-	2	0	PRUNE2	78710671	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.023000	0.64084	1.355000	0.45865	0.655000	0.94253	TCT		0.532	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		7	65	0	0	0	0.001984	0	7	65				
C9orf129	445577	broad.mit.edu	37	9	96080730	96080730	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:96080730G>A	ENST00000375419.1	-	5	904	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S	WNK2_ENST00000471076.1_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000349097.3_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	181										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CACACTGGCGGAGCTGCTTGC	0.612																																							uc010mre.2		NA																	0				ovary(1)	1						c.(541-543)CCG>TCG		hypothetical protein LOC445577							84.0	93.0	90.0					9																	96080730		2058	4206	6264	SO:0001583	missense	445577							g.chr9:96080730G>A		CCDS43850.1	9q22.31	2012-04-02			ENSG00000204352	ENSG00000204352			31116	protein-coding gene	gene with protein product							Standard	NM_001098808		Approved	bA165J3.3	uc010mre.3	Q5T035	OTTHUMG00000020248	ENST00000375419.1:c.541C>T	9.37:g.96080730G>A	ENSP00000364568:p.Pro181Ser					WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	p.P181S	NM_001098808	NP_001092278	Q5T035	CI129_HUMAN			5	905	-			181						Missense_Mutation	SNP	ENST00000375419.1	37	c.541C>T	CCDS43850.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930666	0.52866	.	.	ENSG00000204352	ENST00000375419	T	0.52057	0.68	3.96	-4.11	0.03928	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15093	-1.0449	9	0.87932	D	0	.	0.6714	0.00859	0.2357:0.1453:0.1796:0.4394	.	181	Q5T035	CI129_HUMAN	S	181	ENSP00000364568:P181S	ENSP00000364568:P181S	P	-	1	0	C9orf129	95120551	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.079000	0.14782	-0.857000	0.04115	-0.261000	0.10672	CCG		0.612	C9orf129-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053147.1	NM_001098808		8	86	0	0	0	0.006214	0	8	86				
COL27A1	85301	broad.mit.edu	37	9	116930955	116930955	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:116930955G>T	ENST00000356083.3	+	3	1511	c.1120G>T	c.(1120-1122)Gcc>Tcc	p.A374S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	374	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAAGCCTTCGGCCCCTTCTAC	0.537																																							uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(1120-1122)GCC>TCC		collagen, type XXVII, alpha 1 precursor							116.0	114.0	114.0					9																	116930955		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930955G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1120G>T	9.37:g.116930955G>T	ENSP00000348385:p.Ala374Ser					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.A224S	p.A374S	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	1120	+			374			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1120G>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	9.843	1.191659	0.21954	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91237	-2.49;-2.81	4.94	-0.331	0.12679	.	.	.	.	.	T	0.78773	0.4336	N	0.24115	0.695	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.14578	0.007;0.011	T	0.63060	-0.6721	9	0.32370	T	0.25	.	0.3066	0.00281	0.3337:0.1928:0.2777:0.1959	.	374;321	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	S	374;374;321;321	ENSP00000348385:A374S;ENSP00000391328:A321S	ENSP00000348385:A374S	A	+	1	0	COL27A1	115970776	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.333000	0.07894	0.087000	0.17167	0.462000	0.41574	GCC		0.537	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		10	99	1	0	1.58986e-06	0.008291	1.96961e-06	10	99				
CNTRL	11064	broad.mit.edu	37	9	123919802	123919802	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr9:123919802G>C	ENST00000373855.1	+	28	4680	c.4420G>C	c.(4420-4422)Gag>Cag	p.E1474Q	CNTRL_ENST00000373847.1_Missense_Mutation_p.E922Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E922Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373844.1_5'Flank|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1474Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1474					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATTGCAAACTGAGTCAGATGC	0.408																																							uc004bkx.1		NA																	0					0						c.(4420-4422)GAG>CAG		centrosomal protein 110kDa							103.0	102.0	102.0					9																	123919802		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123919802G>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4420G>C	9.37:g.123919802G>C	ENSP00000362962:p.Glu1474Gln					CEP110_uc004bla.1_Missense_Mutation_p.E922Q|CEP110_uc010mvo.1_Missense_Mutation_p.E143Q|CEP110_uc004blb.1_Missense_Mutation_p.E143Q|CEP110_uc010mvp.1_5'UTR	p.E1474Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			26	4451	+			1474			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.4420G>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826915	0.50739	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.80480	1.5;1.5;1.5;2.55;-1.38	5.61	4.69	0.59074	.	.	.	.	.	T	0.77336	0.4115	M	0.63843	1.955	0.30847	N	0.735076	B	0.29531	0.247	B	0.23716	0.048	T	0.73430	-0.3985	9	0.25751	T	0.34	.	15.3986	0.74818	0.0:0.1399:0.86:0.0	.	1474	Q7Z7A1	CNTRL_HUMAN	Q	1474;1474;1474;230;922;922;143;156	ENSP00000362962:E1474Q;ENSP00000238341:E1474Q;ENSP00000362956:E922Q;ENSP00000362953:E922Q;ENSP00000413014:E143Q	ENSP00000238341:E1474Q	E	+	1	0	CNTRL	122959623	1.000000	0.71417	0.714000	0.30535	0.986000	0.74619	5.699000	0.68310	1.460000	0.47911	0.655000	0.94253	GAG		0.408	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		4	41	0	0	0	0.009096	0	4	41				
DMD	1756	broad.mit.edu	37	X	32841411	32841411	+	Splice_Site	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:32841411C>A	ENST00000357033.4	-	5	564		c.e5+1		DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000288447.4_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGATTCTTACCTGCCAGTGG	0.328																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CS024533|CS071222	DMD	S		c.e5+1		dystrophin Dp427m isoform							143.0	135.0	138.0					X																	32841411		2202	4299	6501	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32841411C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.357+1G>T	X.37:g.32841411C>A						DMD_uc004dcz.2_Splice_Site|DMD_uc004dcy.1_Splice_Site_p.Q115_splice|DMD_uc004ddb.1_Splice_Site_p.Q111_splice|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Splice_Site_p.Q111_splice|DMD_uc010ngq.1_Splice_Site|DMD_uc010ngr.1_Intron	p.Q119_splice	NM_004006	NP_003997	P11532	DMD_HUMAN			5	601	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)						E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.357_splice	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442825	0.83993	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4171	0.90574	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMD	32751332	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.290000	0.77057	0.523000	0.50628	.		0.328	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Intron	5	113	1	0	3.59834e-05	0.001168	4.24167e-05	5	113				
ZNF41	7592	broad.mit.edu	37	X	47306910	47306910	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:47306910C>G	ENST00000377065.4	-	5	2898	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	ZNF41_ENST00000397050.2_Missense_Mutation_p.Q763H|ZNF41_ENST00000313116.7_Missense_Mutation_p.Q753H|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	795					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TAAAGGCCTTCTGACATTCTG	0.383																																							uc004dhs.3		NA																	0				ovary(3)	3						c.(2383-2385)CAG>CAC		zinc finger protein 41							160.0	137.0	145.0					X																	47306910		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47306910C>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.2259G>C	X.37:g.47306910C>G	ENSP00000366265:p.Gln753His					ZNF41_uc004dhu.3_Missense_Mutation_p.Q787H|ZNF41_uc004dht.3_Missense_Mutation_p.Q667H|ZNF41_uc004dhv.3_Missense_Mutation_p.Q763H|ZNF41_uc004dhw.3_Missense_Mutation_p.Q755H|ZNF41_uc004dhy.3_Missense_Mutation_p.Q753H|ZNF41_uc004dhx.3_Missense_Mutation_p.Q753H|ZNF41_uc011mlm.1_Missense_Mutation_p.Q667H	p.Q795H	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	2452	-		all_lung(315;0.000129)	795			C2H2-type 18.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.2385G>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541507	0.45280	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07800	3.16;3.16;3.16	3.87	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.248541	0.21193	N	0.078612	T	0.07098	0.0180	N	0.17872	0.535	0.25837	N	0.984109	P;P;P;P;P	0.44946	0.545;0.545;0.846;0.545;0.6	B;B;P;B;P	0.46110	0.371;0.371;0.465;0.371;0.504	T	0.17992	-1.0351	10	0.87932	D	0	.	7.202	0.25887	0.0:0.7643:0.0:0.2357	.	753;755;763;787;795	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	H	753;753;763	ENSP00000315173:Q753H;ENSP00000366265:Q753H;ENSP00000380243:Q763H	ENSP00000315173:Q753H	Q	-	3	2	ZNF41	47191854	0.028000	0.19301	0.880000	0.34516	0.966000	0.64601	0.076000	0.14712	0.431000	0.26258	0.600000	0.82982	CAG		0.383	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		13	70	0	0	0	0.001368	0	13	70				
HUWE1	10075	broad.mit.edu	37	X	53591666	53591666	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:53591666C>G	ENST00000342160.3	-	50	7355	c.6898G>C	c.(6898-6900)Gaa>Caa	p.E2300Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2300Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2300	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTGCACTTCTGCTTCCCCA	0.517																																							uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(6898-6900)GAA>CAA		HECT, UBA and WWE domain containing 1							157.0	110.0	126.0					X																	53591666		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53591666C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6898G>C	X.37:g.53591666C>G	ENSP00000340648:p.Glu2300Gln					HUWE1_uc004dsn.2_Missense_Mutation_p.E1124Q	p.E2300Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			51	7300	-			2300			Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.6898G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.67|16.67	3.186897|3.186897	0.57909|0.57909	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.39592|.	1.07;1.07|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52403|0.52403	0.1732|0.1732	N|N	0.19112|0.19112	0.55|0.55	0.49582|0.49582	D|D	0.9998|0.9998	D;D|.	0.61080|.	0.981;0.989|.	D;D|.	0.70487|.	0.932;0.969|.	T|T	0.49113|0.49113	-0.8973|-0.8973	10|5	0.19590|.	T|.	0.45|.	.|.	16.9602|16.9602	0.86270|0.86270	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2300;2300|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Q|T	2300|1333	ENSP00000340648:E2300Q;ENSP00000262854:E2300Q|.	ENSP00000262854:E2300Q|.	E|R	-|-	1|2	0|0	HUWE1|HUWE1	53608391|53608391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.763000|6.763000	0.74955|0.74955	2.266000|2.266000	0.75297|0.75297	0.513000|0.513000	0.50165|0.50165	GAA|AGA		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	107	0	0	0	0.001984	0	5	107				
HUWE1	10075	broad.mit.edu	37	X	53616620	53616620	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:53616620G>T	ENST00000342160.3	-	35	4805	c.4348C>A	c.(4348-4350)Ctt>Att	p.L1450I	HUWE1_ENST00000218328.8_Missense_Mutation_p.L1450I|HUWE1_ENST00000262854.6_Missense_Mutation_p.L1450I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1450					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCATCAAGAAGGTGGAAGCAG	0.468																																							uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(4348-4350)CTT>ATT		HECT, UBA and WWE domain containing 1							215.0	161.0	179.0					X																	53616620		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53616620G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4348C>A	X.37:g.53616620G>T	ENSP00000340648:p.Leu1450Ile					HUWE1_uc004dsn.2_Missense_Mutation_p.L275I	p.L1450I	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			36	4750	-			1450					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.4348C>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.511814|4.511814	0.85389|0.85389	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.56611|.	0.7;0.7;0.45|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Armadillo-like helical (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.55481|0.55481	0.1923|0.1923	L|L	0.36672|0.36672	1.1|1.1	0.51233|0.51233	D|D	0.999917|0.999917	D;D|.	0.76494|.	0.999;0.986|.	D;P|.	0.68353|.	0.957;0.836|.	T|T	0.52245|0.52245	-0.8601|-0.8601	10|5	0.56958|.	D|.	0.05|.	.|.	11.463|11.463	0.50221|0.50221	0.085:0.0:0.915:0.0|0.085:0.0:0.915:0.0	.|.	1450;1450|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	I|H	1450|483	ENSP00000340648:L1450I;ENSP00000262854:L1450I;ENSP00000218328:L1450I|.	ENSP00000218328:L1450I|.	L|P	-|-	1|2	0|0	HUWE1|HUWE1	53633345|53633345	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.691000|7.691000	0.84191|0.84191	2.513000|2.513000	0.84729|0.84729	0.600000|0.600000	0.82982|0.82982	CTT|CCT		0.468	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		9	93	1	0	0.00448238	0.004482	0.00493951	9	93				
ASB12	142689	broad.mit.edu	37	X	63445529	63445529	+	5'Flank	SNP	A	A	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:63445529A>T	ENST00000396130.2	-	0	0				MTMR8_ENST00000453546.1_Missense_Mutation_p.M376K|ASB12_ENST00000362002.2_Start_Codon_SNP_p.M1K			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						AACTATTCTCATTATGAGCAC	0.493																																							uc011mou.1		NA																	2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1126-1128)ATG>AAG		myotubularin related protein 8							25.0	20.0	22.0					X																	63445529		2202	4292	6494	SO:0001631	upstream_gene_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445529A>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705		X.37:g.63445529A>T	Exception_encountered					ASB12_uc004dvp.1_5'Flank|ASB12_uc004dvq.1_Missense_Mutation_p.M1K|ASB12_uc004dvr.1_Missense_Mutation_p.M1K	p.M376K	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1195	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1127T>A		.	.	.	.	.	.	.	.	.	.	A	8.621	0.891308	0.17613	.	.	ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000361287;ENST00000453546	T;T	0.74421	0.14;-0.84	4.36	4.36	0.52297	.	1.033050	0.07665	N	0.934437	T	0.74366	0.3707	.	.	.	0.23386	N	0.997788	P	0.49783	0.928	P	0.45343	0.477	T	0.64271	-0.6447	9	0.87932	D	0	.	11.794	0.52088	1.0:0.0:0.0:0.0	.	376	B4DQL0	.	K	1;1;376	ENSP00000355195:M1K;ENSP00000394003:M376K	ENSP00000354626:M1K	M	-	2	0	ASB12;MTMR8	63362254	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	6.845000	0.75394	1.728000	0.51552	0.430000	0.28490	ATG		0.493	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	8	0	0	0	0.004672	0	3	8				
VSIG4	11326	broad.mit.edu	37	X	65253491	65253491	+	Silent	SNP	C	C	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:65253491C>T	ENST00000374737.4	-	2	345	c.237G>A	c.(235-237)caG>caA	p.Q79Q	VSIG4_ENST00000412866.2_Silent_p.Q79Q|VSIG4_ENST00000455586.2_Silent_p.Q79Q	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	79	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTACTTTGCCTGCTGGATAT	0.547																																							uc004dwh.2		NA																	0					0						c.(235-237)CAG>CAA		V-set and immunoglobulin domain containing 4							117.0	96.0	103.0					X																	65253491		2203	4300	6503	SO:0001819	synonymous_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253491C>T	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.237G>A	X.37:g.65253491C>T						VSIG4_uc004dwi.2_Silent_p.Q79Q|VSIG4_uc010nkq.1_Silent_p.Q79Q|VSIG4_uc004dwj.2_Silent_p.Q79Q|VSIG4_uc011moy.1_Silent_p.Q79Q|VSIG4_uc004dwk.2_Silent_p.Q79Q|VSIG4_uc004dwl.2_5'UTR	p.Q79Q	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			2	364	-			79			Ig-like 1.|Extracellular (Potential).		Q6UXI4	Silent	SNP	ENST00000374737.4	37	c.237G>A	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	C	0.641	-0.813458	0.02798	.	.	ENSG00000155659	ENST00000427538	.	.	.	4.93	-1.46	0.08800	.	.	.	.	.	T	0.54515	0.1863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-3.6861	9.3578	0.38177	0.0:0.3756:0.0:0.6244	.	.	.	.	S	6	.	.	G	-	1	0	VSIG4	65170216	0.992000	0.36948	0.907000	0.35723	0.158000	0.22134	0.014000	0.13333	-1.112000	0.02984	-1.225000	0.01585	GGC		0.547	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		13	101	0	0	0	0.001855	0	13	101				
AR	367	broad.mit.edu	37	X	66863140	66863140	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:66863140C>G	ENST00000374690.3	+	2	2183	c.1659C>G	c.(1657-1659)taC>taG	p.Y553*	AR_ENST00000396044.3_Nonsense_Mutation_p.Y553*|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Nonsense_Mutation_p.Y553*|AR_ENST00000396043.2_Nonsense_Mutation_p.Y21*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	552	Interaction with LPXN.|Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTGACTATTACTTTCCACCCC	0.468									Androgen Insensitivity Syndrome																														uc004dwu.1		NA																	0				ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	GRCh37	CI962561	AR	I		c.(1657-1659)TAC>TAG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						168.0	138.0	149.0					X																	66863140		2203	4300	6503	SO:0001587	stop_gained	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66863140C>G	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1659C>G	X.37:g.66863140C>G	ENSP00000363822:p.Tyr553*					AR_uc011mpd.1_Nonsense_Mutation_p.Y553*|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Nonsense_Mutation_p.Y553*|AR_uc004dwv.1_Nonsense_Mutation_p.Y21*	p.Y553*	NM_000044	NP_000035	P10275	ANDR_HUMAN			2	2774	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	552			Modulating.		A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	ENST00000374690.3	37	c.1659C>G	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	C	40	8.326844	0.98762	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	.	.	.	5.37	3.61	0.41365	.	0.055573	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	9.1174	0.36766	0.0:0.8166:0.0:0.1834	.	.	.	.	X	363;553;553;553;21	.	ENSP00000363822:Y553X	Y	+	3	2	AR	66779865	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.198000	0.42705	0.473000	0.27368	-0.306000	0.09157	TAC		0.468	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		7	58	0	0	0	0.00308	0	7	58				
RLIM	51132	broad.mit.edu	37	X	73811920	73811920	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:73811920C>G	ENST00000332687.6	-	4	1448	c.1230G>C	c.(1228-1230)atG>atC	p.M410I	RLIM_ENST00000349225.2_Missense_Mutation_p.M410I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	410					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAAACCTGTCATTATCTGCC	0.408																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NA																	0				ovary(2)	2						c.(1228-1230)ATG>ATC		ring finger protein, LIM domain interacting							103.0	93.0	97.0					X																	73811920		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811920C>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1230G>C	X.37:g.73811920C>G	ENSP00000328059:p.Met410Ile					RLIM_uc004ebw.2_Missense_Mutation_p.M410I	p.M410I	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1520	-			410					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1230G>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609252	0.46527	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.13196	2.61;2.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	M	0.79123	2.44	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.24764	-1.0151	10	0.66056	D	0.02	-1.8244	18.5132	0.90925	0.0:1.0:0.0:0.0	.	410	Q9NVW2	RNF12_HUMAN	I	410	ENSP00000328059:M410I;ENSP00000253571:M410I	ENSP00000328059:M410I	M	-	3	0	RLIM	73728645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.742000	0.68646	2.314000	0.78098	0.600000	0.82982	ATG		0.408	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		8	91	0	0	0	0.004482	0	8	91				
P2RY10	27334	broad.mit.edu	37	X	78216469	78216469	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:78216469G>C	ENST00000171757.2	+	4	732	c.452G>C	c.(451-453)gGc>gCc	p.G151A	P2RY10_ENST00000544091.1_Missense_Mutation_p.G151A|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TACGATGTGGGCATCAGTGCT	0.498																																							uc004ede.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(451-453)GGC>GCC		G-protein coupled purinergic receptor P2Y10							113.0	99.0	104.0					X																	78216469		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216469G>C	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.452G>C	X.37:g.78216469G>C	ENSP00000171757:p.Gly151Ala					P2RY10_uc004edf.2_Missense_Mutation_p.G151A	p.G151A	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	821	+			151			Helical; Name=4; (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.452G>C	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	1.357	-0.589798	0.03799	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.70282	-0.47;-0.47	4.93	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.354000	0.28425	N	0.015383	T	0.44222	0.1283	N	0.05414	-0.055	0.31710	N	0.639635	B	0.02656	0.0	B	0.04013	0.001	T	0.37776	-0.9691	10	0.16420	T	0.52	.	8.4225	0.32710	0.0:0.5229:0.3361:0.141	.	151	O00398	P2Y10_HUMAN	A	151	ENSP00000443138:G151A;ENSP00000171757:G151A	ENSP00000171757:G151A	G	+	2	0	P2RY10	78103125	0.563000	0.26594	0.999000	0.59377	0.336000	0.28762	1.056000	0.30480	0.463000	0.27118	0.417000	0.27973	GGC		0.498	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			23	71	0	0	0	0.012319	0	23	71				
TCEAL5	340543	broad.mit.edu	37	X	102529098	102529098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:102529098G>A	ENST00000372680.1	-	3	688	c.394C>T	c.(394-396)Cag>Tag	p.Q132*		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AAGTCCTCCTGAGAGTCCTTG	0.532																																							uc004ejz.1		NA																	0				lung(1)|breast(1)	2						c.(394-396)CAG>TAG		transcription elongation factor A (SII)-like 5							174.0	152.0	159.0					X																	102529098		2203	4300	6503	SO:0001587	stop_gained	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102529098G>A		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.394C>T	X.37:g.102529098G>A	ENSP00000361765:p.Gln132*						p.Q132*	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN			3	689	-			132					A2RUJ4	Nonsense_Mutation	SNP	ENST00000372680.1	37	c.394C>T	CCDS35356.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997039	0.54147	.	.	ENSG00000204065	ENST00000372680	.	.	.	2.59	1.68	0.24146	.	0.656537	0.12684	N	0.447692	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9452	0.19215	0.0:0.0:0.6915:0.3085	.	.	.	.	X	132	.	ENSP00000361765:Q132X	Q	-	1	0	TCEAL5	102415754	1.000000	0.71417	0.088000	0.20740	0.386000	0.30323	2.043000	0.41231	0.496000	0.27904	0.292000	0.19580	CAG		0.532	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		6	166	0	0	0	0.001984	0	6	166				
MID2	11043	broad.mit.edu	37	X	107160843	107160843	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:107160843C>A	ENST00000262843.6	+	7	1857	c.1309C>A	c.(1309-1311)Cag>Aag	p.Q437K	MID2_ENST00000443968.2_Missense_Mutation_p.Q437K|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	437	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTATGAGCTTCAGTACACCAT	0.488																																							uc004enl.2		NA																	0				ovary(1)	1						c.(1309-1311)CAG>AAG		midline 2 isoform 1							236.0	208.0	218.0					X																	107160843		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107160843C>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1309C>A	X.37:g.107160843C>A	ENSP00000262843:p.Gln437Lys					MID2_uc004enk.2_Missense_Mutation_p.Q437K	p.Q437K	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			7	1882	+			437			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1309C>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743079	0.69418	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.57107	1.03;0.42	5.48	5.48	0.80851	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.057190	0.64402	D	0.000001	T	0.60792	0.2296	L	0.36672	1.1	0.80722	D	1	P;P	0.51537	0.925;0.946	P;P	0.59595	0.651;0.86	T	0.63180	-0.6695	10	0.62326	D	0.03	.	15.6561	0.77136	0.0:1.0:0.0:0.0	.	437;437	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	K	437	ENSP00000262843:Q437K;ENSP00000413976:Q437K	ENSP00000262843:Q437K	Q	+	1	0	MID2	107047499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.294000	0.77228	0.538000	0.68166	CAG		0.488	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		18	274	1	0	3.52763e-06	0.00499	4.31525e-06	18	274				
ALG13	79868	broad.mit.edu	37	X	110951607	110951607	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:110951607G>T	ENST00000394780.3	+	4	748	c.736G>T	c.(736-738)Gcc>Tcc	p.A246S	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.A142S	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	246	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCTCTTTCGGGCCATTTCGGA	0.448																																							uc011msy.1		NA																	0				lung(1)	1						c.(736-738)GCC>TCC		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							146.0	126.0	132.0					X																	110951607		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110951607G>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.736G>T	X.37:g.110951607G>T	ENSP00000378260:p.Ala246Ser					ALG13_uc011msw.1_Missense_Mutation_p.A168S|ALG13_uc011msx.1_Missense_Mutation_p.A142S|ALG13_uc011msz.1_Missense_Mutation_p.A168S|ALG13_uc011mta.1_Missense_Mutation_p.A142S|ALG13_uc011mtb.1_Missense_Mutation_p.A142S	p.A246S			Q9NP73	ALG13_HUMAN			4	770	+			246			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.736G>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404755	0.83230	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.55234	0.53;0.53;0.53	5.67	5.67	0.87782	Ovarian tumour, otubain (2);	0.000000	0.56097	U	0.000026	T	0.69753	0.3146	L	0.59912	1.85	0.42872	D	0.994148	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.68292	-0.5447	9	.	.	.	-11.4356	17.6548	0.88175	0.0:0.0:1.0:0.0	.	168;246;142	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	S	142;246;142	ENSP00000251943:A142S;ENSP00000378260:A246S;ENSP00000427093:A142S	.	A	+	1	0	ALG13	110838263	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.503000	0.81632	2.527000	0.85204	0.600000	0.82982	GCC		0.448	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		12	146	1	0	7.93312e-07	0.00245	9.92278e-07	12	146				
ATP1B4	23439	broad.mit.edu	37	X	119513442	119513442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:119513442G>A	ENST00000218008.3	+	8	1084	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ATP1B4_ENST00000539306.1_Missense_Mutation_p.D300N|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D339N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	343					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTCATCAATGATCGTTTTGT	0.453																																							uc004esr.2		NA																	0				ovary(1)|skin(1)	2						c.(1027-1029)GAT>AAT		ATPase, (Na+)/K+ transporting, beta 4							142.0	112.0	123.0					X																	119513442		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119513442G>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.1027G>A	X.37:g.119513442G>A	ENSP00000218008:p.Asp343Asn					ATP1B4_uc004esq.2_Missense_Mutation_p.D339N|ATP1B4_uc011mtx.1_Missense_Mutation_p.D308N|ATP1B4_uc011mty.1_Missense_Mutation_p.D300N	p.D343N	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			8	1111	+			343			Perinuclear space (Potential).		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.1027G>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749346	0.89753	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.38722	1.12;1.12;1.12	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.77236	-0.2662	10	0.52906	T	0.07	-12.3043	16.9636	0.86279	0.0:0.0:1.0:0.0	.	300;308;343;339	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	N	343;339;300	ENSP00000218008:D343N;ENSP00000355346:D339N;ENSP00000443334:D300N	ENSP00000218008:D343N	D	+	1	0	ATP1B4	119397470	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.876000	0.92379	2.213000	0.71641	0.600000	0.82982	GAT		0.453	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		6	84	0	0	0	0.001168	0	6	84				
DCAF12L1	139170	broad.mit.edu	37	X	125685379	125685379	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:125685379C>A	ENST00000371126.1	-	1	1455	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	405								p.A405S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGCCACAGGCAAGCCTGAGC	0.557																																							uc004eul.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1213-1215)GCC>TCC		DDB1 and CUL4 associated factor 12-like 1							83.0	79.0	81.0					X																	125685379		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685379C>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1213G>T	X.37:g.125685379C>A	ENSP00000360167:p.Ala405Ser						p.A405S	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1464	-			405					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1213G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128630	0.01756	.	.	ENSG00000198889	ENST00000371126	T	0.16897	2.31	3.78	1.02	0.19986	.	0.669254	0.12408	N	0.471526	T	0.04907	0.0132	N	0.02539	-0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.42682	-0.9437	10	0.11485	T	0.65	.	3.2704	0.06879	0.2019:0.1375:0.0:0.6606	.	405	Q5VU92	DC121_HUMAN	S	405	ENSP00000360167:A405S	ENSP00000360167:A405S	A	-	1	0	DCAF12L1	125513060	0.962000	0.33011	0.000000	0.03702	0.008000	0.06430	0.605000	0.24179	0.115000	0.18071	-0.312000	0.09012	GCC		0.557	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		15	110	1	0	1.5739e-10	0.004007	2.08958e-10	15	110				
SMARCA1	6594	broad.mit.edu	37	X	128599538	128599538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:128599538G>A	ENST00000371122.4	-	23	3118	c.2989C>T	c.(2989-2991)Cag>Tag	p.Q997*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q985*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q985*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	997	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AATCTAAACTGGGGAGCATTT	0.343																																							uc004eun.3		NA																	0				ovary(3)|skin(1)	4						c.(2989-2991)CAG>TAG		SWI/SNF-related matrix-associated							171.0	158.0	162.0					X																	128599538		2203	4300	6503	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599538G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2989C>T	X.37:g.128599538G>A	ENSP00000360163:p.Gln997*					SMARCA1_uc004eup.3_Nonsense_Mutation_p.Q985*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.Q997*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.Q985*	p.Q997*	NM_003069	NP_003060	P28370	SMCA1_HUMAN			23	3102	-			997			SANT 2.		Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.2989C>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	42	9.599711	0.99216	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-11.6177	18.688	0.91573	0.0:0.0:1.0:0.0	.	.	.	.	X	985;985;997;976	.	ENSP00000360162:Q985X	Q	-	1	0	SMARCA1	128427219	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.804000	0.99143	2.358000	0.79984	0.538000	0.68166	CAG		0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		5	66	0	0	0	0.000602	0	5	66				
ELF4	2000	broad.mit.edu	37	X	129201451	129201451	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:129201451A>C	ENST00000308167.5	-	9	1616	c.1237T>G	c.(1237-1239)Tcg>Gcg	p.S413A	ELF4_ENST00000335997.7_Missense_Mutation_p.S413A	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCGAGCCCGACCCCACGGGG	0.597			T	ERG	AML																																		uc004evd.3		NA		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				ovary(1)	1						c.(1237-1239)TCG>GCG		E74-like factor 4							51.0	52.0	51.0					X																	129201451		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201451A>C	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1237T>G	X.37:g.129201451A>C	ENSP00000311280:p.Ser413Ala					ELF4_uc004eve.3_Missense_Mutation_p.S413A	p.S413A	NM_001421	NP_001412	Q99607	ELF4_HUMAN			9	1622	-			413						Missense_Mutation	SNP	ENST00000308167.5	37	c.1237T>G	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	a	0.349	-0.946225	0.02304	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.18016	2.24;2.24	4.67	2.26	0.28386	.	0.978587	0.08351	N	0.959175	T	0.10078	0.0247	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.32481	-0.9905	10	0.52906	T	0.07	.	3.4452	0.07478	0.6033:0.263:0.1337:0.0	.	413	Q99607	ELF4_HUMAN	A	413	ENSP00000338608:S413A;ENSP00000311280:S413A	ENSP00000311280:S413A	S	-	1	0	ELF4	129029132	0.014000	0.17966	0.008000	0.14137	0.255000	0.26057	0.482000	0.22276	0.654000	0.30846	0.352000	0.21897	TCG		0.597	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		4	95	0	0	0	0.009096	0	4	95				
USP26	83844	broad.mit.edu	37	X	132160973	132160973	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:132160973C>G	ENST00000511190.1	-	6	1745	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H	USP26_ENST00000406273.1_Missense_Mutation_p.D426H|USP26_ENST00000370832.1_Missense_Mutation_p.D426H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	426	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCACTGGTGTCAGGATCATCA	0.378																																					NSCLC(104;342 1621 36940 47097 52632)	NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NA																	0				lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(1276-1278)GAC>CAC		ubiquitin-specific protease 26							84.0	79.0	81.0					X																	132160973		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160973C>G	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1276G>C	X.37:g.132160973C>G	ENSP00000423390:p.Asp426His					USP26_uc011mvf.1_Missense_Mutation_p.D426H	p.D426H	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1746	-	Acute lymphoblastic leukemia(192;0.000127)		426					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1276G>C	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	c	11.66	1.705006	0.30232	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.29142	1.58;1.58;1.58	3.62	0.747	0.18371	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.057780	0.07512	N	0.909083	T	0.27349	0.0671	N	0.17474	0.49	0.09310	N	1	D	0.53885	0.963	D	0.63033	0.91	T	0.20075	-1.0286	10	0.14252	T	0.57	-4.0E-4	0.5779	0.00707	0.1966:0.3687:0.1899:0.2448	.	426	Q9BXU7	UBP26_HUMAN	H	426	ENSP00000359869:D426H;ENSP00000423390:D426H;ENSP00000384360:D426H	ENSP00000359869:D426H	D	-	1	0	USP26	131988639	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.509000	0.22707	0.039000	0.15632	0.519000	0.50382	GAC		0.378	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		11	80	0	0	0	0.008291	0	11	80				
GPR112	139378	broad.mit.edu	37	X	135426905	135426905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:135426905C>A	ENST00000394143.1	+	6	1331	c.1040C>A	c.(1039-1041)tCt>tAt	p.S347Y	GPR112_ENST00000412101.1_Missense_Mutation_p.S142Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S142Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S347Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S284Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	347					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAATCTCCATCTTCAGAAAGC	0.393																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(1039-1041)TCT>TAT		G-protein coupled receptor 112							92.0	84.0	87.0					X																	135426905		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426905C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1040C>A	X.37:g.135426905C>A	ENSP00000377699:p.Ser347Tyr					GPR112_uc010nsb.1_Missense_Mutation_p.S142Y|GPR112_uc010nsc.1_Missense_Mutation_p.S114Y	p.S347Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	1331	+	Acute lymphoblastic leukemia(192;0.000127)		347			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.1040C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	2.791	-0.251257	0.05867	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29397	1.61;1.61;1.57;1.71;1.57	3.95	2.02	0.26589	.	.	.	.	.	T	0.19005	0.0456	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24258	0.1;0.1;0.061	B;B;B	0.20767	0.031;0.031;0.014	T	0.19451	-1.0305	9	0.45353	T	0.12	.	8.3939	0.32544	0.4346:0.5654:0.0:0.0	.	284;142;347	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	347;347;142;284;142	ENSP00000377699:S347Y;ENSP00000359686:S347Y;ENSP00000416526:S142Y;ENSP00000287534:S284Y;ENSP00000377697:S142Y	ENSP00000287534:S284Y	S	+	2	0	GPR112	135254571	0.052000	0.20516	0.003000	0.11579	0.003000	0.03518	0.947000	0.29082	0.211000	0.20683	-0.383000	0.06682	TCT		0.393	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			6	47	1	0	0.00116845	0.001168	0.00129864	6	47				
RBMX	27316	broad.mit.edu	37	X	135960088	135960088	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:135960088C>A	ENST00000320676.7	-	4	528	c.374G>T	c.(373-375)cGg>cTg	p.R125L	RBMX_ENST00000431446.3_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Missense_Mutation_p.R125L|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000565438.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	125					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTGTCCTCCCCGTGAGGGAGG	0.547																																							uc004fae.1		NA																	0				ovary(1)	1						c.(373-375)CGG>CTG		RNA binding motif protein, X-linked isoform 1							73.0	69.0	70.0					X																	135960088		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135960088C>A		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.374G>T	X.37:g.135960088C>A	ENSP00000359645:p.Arg125Leu					RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.R125L|RBMX_uc011mwg.1_Missense_Mutation_p.R86L|RBMX_uc004faf.1_Intron|RBMX_uc010nsf.1_Missense_Mutation_p.R86L|RBMX_uc004fag.1_5'UTR	p.R125L	NM_002139	NP_002130	P38159	HNRPG_HUMAN			4	584	-	Acute lymphoblastic leukemia(192;0.000127)		125					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.374G>T	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	15.83	2.949994	0.53186	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.79940	-1.32	5.65	3.89	0.44902	.	0.000000	0.85682	U	0.000000	T	0.74726	0.3754	M	0.72624	2.21	0.80722	D	1	P;P	0.42757	0.623;0.789	B;B	0.35073	0.195;0.17	T	0.70037	-0.4982	10	0.31617	T	0.26	.	10.0358	0.42129	0.0:0.8407:0.0:0.1593	.	125;112	P38159;Q8N8Y7	HNRPG_HUMAN;.	L	125;112	ENSP00000359645:R125L	ENSP00000359645:R125L	R	-	2	0	RBMX	135787754	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	3.657000	0.54474	0.576000	0.29452	0.504000	0.49776	CGG		0.547	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		7	76	1	0	8.12818e-05	0.001984	9.4384e-05	7	76				
ATP11C	286410	broad.mit.edu	37	X	138827966	138827966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:138827966G>T	ENST00000327569.3	-	25	2986	c.2888C>A	c.(2887-2889)aCa>aAa	p.T963K	ATP11C_ENST00000361648.2_Missense_Mutation_p.T963K|ATP11C_ENST00000370543.1_Missense_Mutation_p.T963K|ATP11C_ENST00000359686.2_Missense_Mutation_p.T963K|ATP11C_ENST00000370557.1_Missense_Mutation_p.T957K|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	963					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGCCAGAAATGTCCAATATAA	0.393																																							uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(2887-2889)ACA>AAA		ATPase, class VI, type 11C isoform a							84.0	76.0	79.0					X																	138827966		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138827966G>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2888C>A	X.37:g.138827966G>T	ENSP00000332756:p.Thr963Lys					ATP11C_uc004fax.2_Missense_Mutation_p.T171K|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.T963K	p.T963K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			25	2987	-	Acute lymphoblastic leukemia(192;0.000127)		963			Helical; (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.2888C>A	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648538	0.87958	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000450801;ENST00000370543;ENST00000359686	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.97	5.11	0.69529	.	0.050257	0.85682	D	0.000000	D	0.82981	0.5155	M	0.81682	2.555	0.58432	D	0.999997	D;D;D	0.65815	0.995;0.991;0.995	D;P;D	0.66497	0.944;0.881;0.92	D	0.84826	0.0799	10	0.62326	D	0.03	.	13.6255	0.62161	0.0769:0.0:0.9231:0.0	.	963;963;963	Q8NB49-3;Q8NB49;Q8NB49-2	.;AT11C_HUMAN;.	K	957;963;963;27;963;963	ENSP00000359588:T957K;ENSP00000355165:T963K;ENSP00000332756:T963K;ENSP00000391259:T27K;ENSP00000359574:T963K;ENSP00000352715:T963K	ENSP00000332756:T963K	T	-	2	0	ATP11C	138655632	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.640000	0.83355	2.527000	0.85204	0.600000	0.82982	ACA		0.393	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		8	62	1	0	1.06961e-07	0.00308	1.35974e-07	8	62				
LDOC1	23641	broad.mit.edu	37	X	140270995	140270995	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:140270995G>C	ENST00000370526.2	-	1	315	c.212C>G	c.(211-213)aCg>aGg	p.T71R	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	71					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GTAAGACGCCGTCTGCACGAT	0.622																																							uc004fbj.2		NA																	0					0						c.(211-213)ACG>AGG		leucine zipper, down-regulated in cancer 1							81.0	68.0	72.0					X																	140270995		2203	4300	6503	SO:0001583	missense	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140270995G>C	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.212C>G	X.37:g.140270995G>C	ENSP00000359557:p.Thr71Arg						p.T71R	NM_012317	NP_036449	O95751	LDOC1_HUMAN			1	316	-	Acute lymphoblastic leukemia(192;7.65e-05)		71					Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	c.212C>G	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	17.77	3.472232	0.63737	.	.	ENSG00000182195	ENST00000370526	T	0.31510	1.49	3.67	3.67	0.42095	.	0.289611	0.25270	N	0.031889	T	0.44829	0.1312	L	0.48642	1.525	0.27827	N	0.941579	D	0.89917	1.0	D	0.79784	0.993	T	0.19353	-1.0308	10	0.87932	D	0	-12.9592	9.9233	0.41476	0.0:0.0:1.0:0.0	.	71	O95751	LDOC1_HUMAN	R	71	ENSP00000359557:T71R	ENSP00000359557:T71R	T	-	2	0	LDOC1	140098661	0.998000	0.40836	0.914000	0.36105	0.830000	0.47004	3.962000	0.56766	2.092000	0.63282	0.287000	0.19450	ACG		0.622	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		9	91	0	0	0	0.004482	0	9	91				
AFF2	2334	broad.mit.edu	37	X	148037467	148037467	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:148037467C>A	ENST00000370460.2	+	11	2371	c.1892C>A	c.(1891-1893)cCc>cAc	p.P631H	AFF2_ENST00000370457.5_Missense_Mutation_p.P598H|AFF2_ENST00000342251.3_Missense_Mutation_p.P598H|AFF2_ENST00000286437.5_Missense_Mutation_p.P272H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	631					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAAACAGCCCAAAAAAGTT	0.433																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1891-1893)CCC>CAC		fragile X mental retardation 2							93.0	99.0	97.0					X																	148037467		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037467C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1892C>A	X.37:g.148037467C>A	ENSP00000359489:p.Pro631His					AFF2_uc004fcq.2_Missense_Mutation_p.P621H|AFF2_uc004fcr.2_Missense_Mutation_p.P592H|AFF2_uc011mxb.1_Missense_Mutation_p.P596H|AFF2_uc004fcs.2_Missense_Mutation_p.P598H|AFF2_uc011mxc.1_Missense_Mutation_p.P272H	p.P631H	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2371	+	Acute lymphoblastic leukemia(192;6.56e-05)		631					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1892C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250816	0.80135	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.5	5.5	0.81552	.	0.056934	0.64402	D	0.000001	D	0.85159	0.5633	M	0.82193	2.58	0.58432	D	0.999999	D;D;D;D;D;D	0.63880	0.993;0.991;0.991;0.991;0.991;0.993	D;P;P;P;P;D	0.66196	0.942;0.849;0.849;0.849;0.904;0.942	D	0.87466	0.2411	10	0.87932	D	0	.	18.4401	0.90664	0.0:1.0:0.0:0.0	.	272;596;598;592;621;631	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	631;598;598;272	ENSP00000359489:P631H;ENSP00000359486:P598H;ENSP00000345459:P598H;ENSP00000286437:P272H	ENSP00000286437:P272H	P	+	2	0	AFF2	147845167	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	5.148000	0.64857	2.295000	0.77249	0.556000	0.70494	CCC		0.433	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		15	134	1	0	0.00244969	0.00245	0.0027149	15	134				
GABRE	2564	broad.mit.edu	37	X	151124235	151124235	+	Silent	SNP	G	G	C			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:151124235G>C	ENST00000370328.3	-	7	935	c.882C>G	c.(880-882)ctC>ctG	p.L294L	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_Silent_p.L294L|GABRE_ENST00000483564.1_5'UTR|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	294					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAACCCAGGAGAGCATCGTGG	0.498																																							uc004ffi.2		NA																	0				ovary(2)	2						c.(880-882)CTC>CTG		gamma-aminobutyric acid (GABA) A receptor,							149.0	126.0	134.0					X																	151124235		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151124235G>C	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.882C>G	X.37:g.151124235G>C						GABRE_uc011myd.1_RNA	p.L294L	NM_004961	NP_004952	P78334	GBRE_HUMAN			7	936	-	Acute lymphoblastic leukemia(192;6.56e-05)		294			Helical; (Potential).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.882C>G	CCDS14703.1																																																																																				0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		7	105	0	0	0	0.001984	0	7	105				
GABRE	2564	broad.mit.edu	37	X	151128375	151128375	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:151128375C>A	ENST00000370328.3	-	6	773	c.720G>T	c.(718-720)tgG>tgT	p.W240C	GABRE_ENST00000393914.3_Missense_Mutation_p.W47C|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.W240C|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	240					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAAGAGCTTCCAGGAGTTCT	0.443																																							uc004ffi.2		NA																	0				ovary(2)	2						c.(718-720)TGG>TGT		gamma-aminobutyric acid (GABA) A receptor,							102.0	98.0	99.0					X																	151128375		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151128375C>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.720G>T	X.37:g.151128375C>A	ENSP00000359353:p.Trp240Cys					GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank	p.W240C	NM_004961	NP_004952	P78334	GBRE_HUMAN			6	774	-	Acute lymphoblastic leukemia(192;6.56e-05)		240			Extracellular (Probable).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.720G>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877000	0.72180	.	.	ENSG00000102287	ENST00000370328;ENST00000370325;ENST00000393914	T;T	0.78924	-1.22;-1.22	5.78	5.78	0.91487	Neurotransmitter-gated ion-channel ligand-binding (3);	0.388960	0.22665	N	0.057152	D	0.86192	0.5874	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86122	0.1569	10	0.54805	T	0.06	.	16.3838	0.83490	0.0:1.0:0.0:0.0	.	240	P78334	GBRE_HUMAN	C	240;240;47	ENSP00000359353:W240C;ENSP00000359350:W240C	ENSP00000359350:W240C	W	-	3	0	GABRE	150879031	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.653000	0.61462	2.562000	0.86427	0.600000	0.82982	TGG		0.443	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		8	81	1	0	0.000157383	0.00308	0.000180065	8	81				
F8	2157	broad.mit.edu	37	X	154221309	154221309	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chrX:154221309G>A	ENST00000360256.4	-	4	703	c.503C>T	c.(502-504)tCt>tTt	p.S168F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	168	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGTGGGTCAGAGGCCATTGG	0.463																																							uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(502-504)TCT>TTT		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						271.0	233.0	246.0					X																	154221309		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154221309G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.503C>T	X.37:g.154221309G>A	ENSP00000353393:p.Ser168Phe					F8_uc011mzx.1_Missense_Mutation_p.S133F	p.S168F	NM_000132	NP_000123	P00451	FA8_HUMAN			4	674	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		168			Plastocyanin-like 1.|F5/8 type A 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.503C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863418	0.51482	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99150	-5.49;-5.49;-5.41	4.74	3.72	0.42706	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.377369	0.31709	N	0.007186	D	0.98495	0.9498	M	0.65498	2.005	0.31060	N	0.714262	D;B	0.60160	0.987;0.362	P;B	0.57679	0.825;0.173	D	0.96990	0.9721	10	0.66056	D	0.02	-16.2932	7.9299	0.29897	0.0:0.0:0.6831:0.3169	.	133;168	B1B0G8;P00451	.;FA8_HUMAN	F	168;133;162	ENSP00000353393:S168F;ENSP00000409446:S133F;ENSP00000389153:S162F	ENSP00000353393:S168F	S	-	2	0	F8	153874503	0.000000	0.05858	0.998000	0.56505	0.615000	0.37417	0.146000	0.16180	2.085000	0.62840	0.523000	0.50628	TCT		0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			16	193	0	0	0	0.006122	0	16	193				
IRF2BP2	359948	broad.mit.edu	37	1	234743316	234743317	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:234743316_234743317insCT	ENST00000366609.3	-	2	1360_1361	c.1330_1331insAG	c.(1330-1332)gccfs	p.A444fs	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Frame_Shift_Ins_p.A428fs|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AACCTGGTTGGCATCTTTTGAG	0.604																																							uc001hwg.2		NA																	0					0						c.(1330-1332)GCCfs		interferon regulatory factor 2 binding protein 2																																				SO:0001589	frameshift_variant	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743316_234743317insCT	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1330_1331insAG	1.37:g.234743316_234743317insCT	ENSP00000355568:p.Ala444fs					IRF2BP2_uc009xfw.2_Frame_Shift_Ins_p.A54fs|IRF2BP2_uc001hwf.2_Frame_Shift_Ins_p.A428fs	p.A444fs	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1361_1362	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	444					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Frame_Shift_Ins	INS	ENST00000366609.3	37	c.1330_1331insAG	CCDS1602.1																																																																																				0.604	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		11	164	NA	NA	NA	NA	NA	11	164	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343457	248343457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr1:248343457delC	ENST00000359682.2	+	1	170	c.170delC	c.(169-171)accfs	p.T57fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			CAGCTCCACACCCCCATGTAC	0.537																																							uc010pzf.1		NA																	0				ovary(3)|skin(1)	4						c.(169-171)ACCfs		olfactory receptor, family 2, subfamily M,							313.0	298.0	303.0					1																	248343457		2203	4298	6501	SO:0001589	frameshift_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343457delC	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.170delC	1.37:g.248343457delC	ENSP00000352710:p.Thr57fs						p.T57fs	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	170	+	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)		57			Cytoplasmic (Potential).		A3KFT4	Frame_Shift_Del	DEL	ENST00000359682.2	37	c.170delC	CCDS31106.1																																																																																				0.537	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		31	392	NA	NA	NA	NA	NA	31	392	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37643721	37643721	+	Frame_Shift_Del	DEL	C	C	-	rs146669317	byFrequency	TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr19:37643721delC	ENST00000356958.4	-	5	1338	c.1080delG	c.(1078-1080)gggfs	p.G360fs	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000355533.2_Frame_Shift_Del_p.G305fs|ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.G305fs			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAGGCCTTCCCACACTCAG	0.408																																							uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1078-1080)GGGfs		zinc finger protein 585A							97.0	95.0	96.0					19																	37643721		2203	4300	6503	SO:0001589	frameshift_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643721delC	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1080delG	19.37:g.37643721delC	ENSP00000349440:p.Gly360fs					ZNF585A_uc002ofm.1_Frame_Shift_Del_p.G305fs|ZNF585A_uc002ofn.1_Frame_Shift_Del_p.G305fs	p.G360fs	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1311	-			360			C2H2-type 8.		Q8TE95|Q96MV3	Frame_Shift_Del	DEL	ENST00000356958.4	37	c.1080delG																																																																																					0.408	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		26	73	NA	NA	NA	NA	NA	26	73	---	---	---	---
FLRT3	23767	broad.mit.edu	37	20	14306373	14306375	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr20:14306373_14306375delAAG	ENST00000378053.3	-	2	2034_2036	c.1778_1780delCTT	c.(1777-1782)tctttt>ttt	p.S593del	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_In_Frame_Del_p.S593del	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	593					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.S593Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AACATCTGAAAAGAAGTTTCCCT	0.399																																							uc002wov.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	kidney(1)	1						c.(1777-1782)TCTTTT>TTT		fibronectin leucine rich transmembrane protein 3																																				SO:0001651	inframe_deletion	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306373_14306375delAAG	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1778_1780delCTT	20.37:g.14306376_14306378delAAG	ENSP00000367292:p.Ser593del					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_In_Frame_Del_p.S593del	p.S593del	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	2245_2247	-		Colorectal(1;0.0464)	593			Cytoplasmic (Potential).		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	In_Frame_Del	DEL	ENST00000378053.3	37	c.1778_1780delCTT	CCDS13121.1																																																																																				0.399	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		16	137	NA	NA	NA	NA	NA	16	137	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134851761	134851761	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr3:134851761delC	ENST00000398015.3	+	5	1537	c.1167delC	c.(1165-1167)tgcfs	p.C389fs	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	389	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGACGGAGTGCCGCGTCTCCA	0.617																																							uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1165-1167)TGCfs		ephrin receptor EphB1 precursor							41.0	48.0	45.0					3																	134851761		2199	4297	6496	SO:0001589	frameshift_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851761delC	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1167delC	3.37:g.134851761delC	ENSP00000381097:p.Cys389fs					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.C389fs	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1387	+			389			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Frame_Shift_Del	DEL	ENST00000398015.3	37	c.1167delC	CCDS46921.1																																																																																				0.617	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		8	43	NA	NA	NA	NA	NA	8	43	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885535	88885536	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7574-01A-11D-2036-08	TCGA-55-7574-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	61ff2f50-8ae1-4332-a96e-e5dc24213556	c5e5daaa-44dc-4055-91d9-36d4ab69a60f	g.chr8:88885535_88885536insA	ENST00000319675.3	-	1	760_761	c.664_665insT	c.(664-666)gggfs	p.G222fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	222										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACTGCTAGTCCCAAATGACTGC	0.53																																							uc003ydz.2		NA																	0				ovary(1)	1						c.(664-666)GGGfs		WD repeat domain 21C																																				SO:0001589	frameshift_variant	138009							g.chr8:88885535_88885536insA	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.664_665insT	8.37:g.88885535_88885536insA	ENSP00000316496:p.Gly222fs						p.G222fs	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	761_762	-			222						Frame_Shift_Ins	INS	ENST00000319675.3	37	c.664_665insT	CCDS6245.1																																																																																				0.530	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		8	131	NA	NA	NA	NA	NA	8	131	---	---	---	---
