#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRKCZ	5590	broad.mit.edu	37	1	2080336	2080336	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:2080336G>T	ENST00000400921.2	+	5	794	c.111G>T	c.(109-111)aaG>aaT	p.K37N	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.K37N	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	220	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CATCCCGGAAGCATGACAGCA	0.562																																						uc001aiq.2		NA																	0				central_nervous_system(4)|large_intestine(2)	6						c.(658-660)AAG>AAT		protein kinase C, zeta isoform 1							135.0	125.0	128.0					1																	2080336		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2080336G>T	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.111G>T	1.37:g.2080336G>T	ENSP00000383712:p.Lys37Asn					PRKCZ_uc001air.2_Missense_Mutation_p.K37N|PRKCZ_uc010nyw.1_Missense_Mutation_p.K116N|PRKCZ_uc001ais.2_Missense_Mutation_p.K37N|PRKCZ_uc009vla.2_Missense_Mutation_p.K44N|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Missense_Mutation_p.K33N	p.K220N	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	8	821	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	220					A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.660G>T	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396248	0.25205	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000496325;ENST00000482686;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000471018;ENST00000497183	T;T;T;T;T;T;T;T	0.69175	-0.36;-0.26;-0.38;1.43;-0.26;0.24;0.87;0.88	4.56	0.892	0.19230	.	0.195044	0.43260	D	0.000589	T	0.40222	0.1108	N	0.08118	0	0.48087	D	0.999587	B;B;B	0.14438	0.001;0.0;0.01	B;B;B	0.09377	0.002;0.001;0.004	T	0.05500	-1.0881	10	0.24483	T	0.36	.	8.8617	0.35261	0.6755:0.0:0.3245:0.0	.	116;44;220	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	N	220;37;116;37;37;37;37;33;37;37;37;33	ENSP00000367830:K220N;ENSP00000383712:K37N;ENSP00000426412:K116N;ENSP00000424228:K37N;ENSP00000383711:K37N;ENSP00000424763:K33N;ENSP00000421219:K37N;ENSP00000422764:K33N	ENSP00000367830:K220N	K	+	3	2	PRKCZ	2070196	1.000000	0.71417	0.956000	0.39512	0.730000	0.41778	0.702000	0.25631	-0.117000	0.11872	-0.959000	0.02639	AAG		0.562	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		26	52	1	0	1.32e-22	1.4e-22	26	52				
CASZ1	54897	broad.mit.edu	37	1	10715871	10715871	+	Splice_Site	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:10715871C>T	ENST00000377022.3	-	9	1818		c.e9-1		RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Splice_Site	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCGTGAACCTCTGCCAGGAGA	0.632																																						uc001aro.2		NA																	0				skin(1)	1						c.e9-1		castor homolog 1, zinc finger isoform a							176.0	139.0	151.0					1																	10715871		2203	4300	6503	SO:0001630	splice_region_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715871C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1501-1G>A	1.37:g.10715871C>T						CASZ1_uc001arp.1_Splice_Site_p.R501_splice|CASZ1_uc009vmx.2_Splice_Site_p.R525_splice	p.R501_splice	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	1821	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)						Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Splice_Site	SNP	ENST00000377022.3	37	c.1501_splice	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883371	0.91740	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9746	0.89123	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASZ1	10638458	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.313000	0.78978	2.331000	0.79229	0.561000	0.74099	.		0.632	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	Intron	4	85	0	0	0	0	4	85				
CLCN6	1185	broad.mit.edu	37	1	11896103	11896103	+	Silent	SNP	C	C	T	rs7412854	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:11896103C>T	ENST00000346436.6	+	18	1925	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.L603L|CLCN6_ENST00000376496.3_Silent_p.L625L	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	625	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAGCATCCTGCGCACCAC	0.592																																						uc001ate.3		NA																	0					0						c.(1873-1875)CTG>TTG		chloride channel 6 isoform ClC-6a							151.0	107.0	122.0					1																	11896103		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11896103C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1873C>T	1.37:g.11896103C>T						CLCN6_uc010oat.1_Silent_p.L341L|CLCN6_uc010oau.1_Silent_p.L603L	p.L625L	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	18	1986	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	625			Cytoplasmic (By similarity).|CBS 1.		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.1873C>T	CCDS138.1																																																																																				0.592	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		3	53	0	0	0	0	3	53				
GMEB1	10691	broad.mit.edu	37	1	29029013	29029013	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:29029013C>G	ENST00000294409.2	+	7	782	c.692C>G	c.(691-693)tCa>tGa	p.S231*	GMEB1_ENST00000361872.4_Nonsense_Mutation_p.S221*|GMEB1_ENST00000373816.1_Nonsense_Mutation_p.S221*|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	231					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGGAACTCAGCTCTCACC	0.488																																						uc001bra.2		NA																	0					0						c.(691-693)TCA>TGA		glucocorticoid modulatory element binding							121.0	112.0	115.0					1																	29029013		2203	4300	6503	SO:0001587	stop_gained	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29029013C>G	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.692C>G	1.37:g.29029013C>G	ENSP00000294409:p.Ser231*					GMEB1_uc001bqz.2_Nonsense_Mutation_p.S221*|GMEB1_uc001brb.2_Nonsense_Mutation_p.S221*	p.S231*	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	7	830	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	231					B1AT48|Q9NWH1|Q9UKD0	Nonsense_Mutation	SNP	ENST00000294409.2	37	c.692C>G	CCDS327.1	.	.	.	.	.	.	.	.	.	.	C	37	6.071530	0.97256	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	.	.	.	5.26	5.26	0.73747	.	0.225320	0.40818	N	0.001012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.7222	17.8555	0.88761	0.0:1.0:0.0:0.0	.	.	.	.	X	221;197;221;231	.	ENSP00000294409:S231X	S	+	2	0	GMEB1	28901600	0.998000	0.40836	0.970000	0.41538	0.997000	0.91878	5.054000	0.64275	2.755000	0.94549	0.650000	0.86243	TCA		0.488	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		5	104	0	0	0	0	5	104				
CSMD2	114784	broad.mit.edu	37	1	33992840	33992840	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:33992840C>G	ENST00000373381.4	-	65	10366	c.10190G>C	c.(10189-10191)aGa>aCa	p.R3397T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTGATGGGTCTCCCACTGGG	0.507																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(9757-9759)AGA>ACA		CUB and Sushi multiple domains 2							87.0	84.0	85.0					1																	33992840		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33992840C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10190G>C	1.37:g.33992840C>G	ENSP00000362479:p.Arg3397Thr					CSMD2_uc001bxm.1_Missense_Mutation_p.R3397T	p.R3253T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			64	9787	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3253			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9758G>C		.	.	.	.	.	.	.	.	.	.	C	15.38	2.816970	0.50633	.	.	ENSG00000121904	ENST00000373381	T	0.24908	1.83	5.41	5.41	0.78517	Complement control module (1);	0.237662	0.41605	D	0.000857	T	0.23054	0.0557	L	0.36672	1.1	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.02020	-1.1228	10	0.37606	T	0.19	.	15.9258	0.79615	0.0:1.0:0.0:0.0	.	3253;3397	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	3397	ENSP00000362479:R3397T	ENSP00000241312:R3253T	R	-	2	0	CSMD2	33765427	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.457000	0.45005	2.562000	0.86427	0.655000	0.94253	AGA		0.507	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		4	138	0	0	0	0	4	138				
CLSPN	63967	broad.mit.edu	37	1	36226454	36226454	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36226454C>T	ENST00000318121.3	-	8	1125	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	CLSPN_ENST00000373220.3_Missense_Mutation_p.M356I|CLSPN_ENST00000520551.1_Missense_Mutation_p.M356I|CLSPN_ENST00000251195.5_Missense_Mutation_p.M356I	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	356					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCACTGTTCATTTCAGTAG	0.383																																						uc001bzi.2		NA																	0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(1066-1068)ATG>ATA		claspin							85.0	85.0	85.0					1																	36226454		2190	4294	6484	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226454C>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1068G>A	1.37:g.36226454C>T	ENSP00000312995:p.Met356Ile					CLSPN_uc009vux.2_Missense_Mutation_p.M356I	p.M356I	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			8	1148	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	356					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.1068G>A	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.416156	0.01136	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.51	-0.488	0.12056	.	0.689037	0.15587	N	0.254620	T	0.11367	0.0277	L	0.28274	0.84	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23261	-1.0193	10	0.31617	T	0.26	1.0577	5.3029	0.15788	0.2096:0.4461:0.2752:0.0691	.	356;356	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	I	356	ENSP00000251195:M356I;ENSP00000312995:M356I;ENSP00000362317:M356I;ENSP00000428848:M356I	ENSP00000251195:M356I	M	-	3	0	CLSPN	35999041	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.305000	0.19254	0.245000	0.21373	0.591000	0.81541	ATG		0.383	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		6	138	0	0	0	0	6	138				
CLSPN	63967	broad.mit.edu	37	1	36226773	36226773	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36226773C>G	ENST00000318121.3	-	7	985	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	CLSPN_ENST00000373220.3_Missense_Mutation_p.E310Q|CLSPN_ENST00000520551.1_Missense_Mutation_p.E310Q|CLSPN_ENST00000251195.5_Missense_Mutation_p.E310Q	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	310					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTTATTCTCAGGCATATGA	0.358																																						uc001bzi.2		NA																	0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(928-930)GAG>CAG		claspin							113.0	114.0	114.0					1																	36226773		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226773C>G	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.928G>C	1.37:g.36226773C>G	ENSP00000312995:p.Glu310Gln					CLSPN_uc009vux.2_Missense_Mutation_p.E310Q	p.E310Q	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			7	1008	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	310					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.928G>C	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688184	0.88639	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.28895	1.62;1.63;1.59;1.62	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.74258	2.255	0.48087	D	0.999586	D;D	0.63046	0.992;0.992	P;P	0.61132	0.884;0.776	T	0.54957	-0.8215	10	0.51188	T	0.08	-11.9079	19.6406	0.95755	0.0:1.0:0.0:0.0	.	310;310	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	310	ENSP00000251195:E310Q;ENSP00000312995:E310Q;ENSP00000362317:E310Q;ENSP00000428848:E310Q	ENSP00000251195:E310Q	E	-	1	0	CLSPN	35999360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.733000	0.47360	2.634000	0.89283	0.591000	0.81541	GAG		0.358	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		8	177	0	0	0	0	8	177				
CLSPN	63967	broad.mit.edu	37	1	36228043	36228043	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36228043C>G	ENST00000318121.3	-	5	841	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	CLSPN_ENST00000373220.3_Missense_Mutation_p.E262Q|CLSPN_ENST00000520551.1_Missense_Mutation_p.E262Q|CLSPN_ENST00000251195.5_Missense_Mutation_p.E262Q	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	262					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCCTTCCTCAAATGAATGG	0.388																																						uc001bzi.2		NA																	0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(784-786)GAG>CAG		claspin							123.0	113.0	117.0					1																	36228043		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36228043C>G	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.784G>C	1.37:g.36228043C>G	ENSP00000312995:p.Glu262Gln					CLSPN_uc009vux.2_Missense_Mutation_p.E262Q	p.E262Q	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			5	864	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	262					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.784G>C	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166668	0.38217	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.26373	1.76;1.76;1.74;1.75	5.31	5.31	0.75309	.	0.240698	0.42420	D	0.000716	T	0.50990	0.1648	M	0.69823	2.125	0.35409	D	0.792319	D;D	0.89917	0.99;1.0	P;D	0.85130	0.858;0.997	T	0.63427	-0.6640	10	0.66056	D	0.02	-18.219	15.7016	0.77547	0.0:1.0:0.0:0.0	.	262;262	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	262	ENSP00000251195:E262Q;ENSP00000312995:E262Q;ENSP00000362317:E262Q;ENSP00000428848:E262Q	ENSP00000251195:E262Q	E	-	1	0	CLSPN	36000630	1.000000	0.71417	0.994000	0.49952	0.281000	0.26958	2.743000	0.47442	2.470000	0.83445	0.460000	0.39030	GAG		0.388	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		4	146	0	0	0	0	4	146				
PPCS	79717	broad.mit.edu	37	1	42925418	42925418	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:42925418C>G	ENST00000372561.3	+	3	764	c.757C>G	c.(757-759)Caa>Gaa	p.Q253E	PPCS_ENST00000372562.1_Missense_Mutation_p.Q80E|PPCS_ENST00000455780.1_Missense_Mutation_p.Q80E|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	253					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTATCAGCATCAAGTGGTGGT	0.408																																						uc001chl.2		NA																	0					0						c.(757-759)CAA>GAA		phosphopantothenoylcysteine synthetase isoform							125.0	117.0	120.0					1																	42925418		1866	4108	5974	SO:0001583	missense	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42925418C>G	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.757C>G	1.37:g.42925418C>G	ENSP00000361642:p.Gln253Glu					PPCS_uc001chk.2_Missense_Mutation_p.Q80E	p.Q253E	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN			3	821	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	253					Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	c.757C>G	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905802	0.92107	.	.	ENSG00000127125	ENST00000372562;ENST00000455780;ENST00000372561	.	.	.	6.01	6.01	0.97437	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.87038	2.855	0.80722	D	1	P	0.40282	0.711	P	0.46172	0.506	T	0.78863	-0.2036	9	0.45353	T	0.12	-10.232	18.015	0.89236	0.0:1.0:0.0:0.0	.	253	Q9HAB8	PPCS_HUMAN	E	80;80;253	.	ENSP00000361642:Q253E	Q	+	1	0	PPCS	42698005	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.082000	0.76851	2.861000	0.98227	0.650000	0.86243	CAA		0.408	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		6	245	0	0	0	0	6	245				
BEST4	266675	broad.mit.edu	37	1	45250344	45250344	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:45250344C>T	ENST00000372207.3	-	8	1104	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	369						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGCAGAGACTCGGCCGCCGTG	0.657																																						uc001cmm.2		NA																	0				ovary(1)	1						c.(1105-1107)GAG>AAG		bestrophin 4							36.0	42.0	40.0					1																	45250344		2202	4298	6500	SO:0001583	missense	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45250344C>T	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.1105G>A	1.37:g.45250344C>T	ENSP00000361281:p.Glu369Lys						p.E369K	NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN			8	1154	-	Acute lymphoblastic leukemia(166;0.155)		369			Cytoplasmic (Potential).		Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	c.1105G>A	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890972	0.33348	.	.	ENSG00000142959	ENST00000372207	D	0.97870	-4.58	4.71	3.8	0.43715	.	0.180393	0.47093	D	0.000254	D	0.94988	0.8378	L	0.57536	1.79	0.09310	N	1	B	0.27594	0.182	B	0.23574	0.047	D	0.85149	0.0985	10	0.10111	T	0.7	-11.7732	11.7477	0.51830	0.0:0.9131:0.0:0.0869	.	369	Q8NFU0	BEST4_HUMAN	K	369	ENSP00000361281:E369K	ENSP00000361281:E369K	E	-	1	0	BEST4	45022931	0.989000	0.36119	0.023000	0.16930	0.292000	0.27327	4.359000	0.59449	1.332000	0.45431	0.491000	0.48974	GAG		0.657	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		5	27	0	0	0	0	5	27				
USP1	7398	broad.mit.edu	37	1	62908868	62908868	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:62908868G>A	ENST00000339950.4	+	5	1250	c.435G>A	c.(433-435)ttG>ttA	p.L145L	USP1_ENST00000371146.1_Silent_p.L145L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	145	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GTTATGAATTGATATGCAGTT	0.358																																					Ovarian(122;1846 2315 3982 19504)	uc001daj.1		NA																	0				ovary(1)	1						c.(433-435)TTG>TTA		ubiquitin specific protease 1							132.0	133.0	133.0					1																	62908868		2203	4300	6503	SO:0001819	synonymous_variant	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62908868G>A		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.435G>A	1.37:g.62908868G>A						USP1_uc001dak.1_Silent_p.L145L|USP1_uc001dal.1_Silent_p.L145L	p.L145L	NM_001017415	NP_001017415	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	5	763	+		all_neural(321;0.0281)	145					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Silent	SNP	ENST00000339950.4	37	c.435G>A	CCDS621.1																																																																																				0.358	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		7	201	0	0	0	0	7	201				
IL23R	149233	broad.mit.edu	37	1	67635171	67635171	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:67635171G>C	ENST00000347310.5	+	3	388	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.E73Q	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	73					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGCATCAAAGAAAGATTTCA	0.343																																						uc001ddo.2		NA																	0					0						c.(217-219)GAA>CAA		interleukin 23 receptor precursor							89.0	101.0	97.0					1																	67635171		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67635171G>C	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.217G>C	1.37:g.67635171G>C	ENSP00000321345:p.Glu73Gln					IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.E30Q|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_5'UTR|IL23R_uc001ddr.2_RNA	p.E73Q	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			3	302	+			73			Extracellular (Potential).		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.217G>C	CCDS637.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142084	0.37825	.	.	ENSG00000162594	ENST00000347310;ENST00000371002;ENST00000540775;ENST00000543799	D;D	0.85484	-1.99;-1.99	5.61	4.67	0.58626	.	0.557822	0.19914	N	0.103227	D	0.84759	0.5543	L	0.54323	1.7	0.58432	D	0.999993	D;D	0.76494	0.991;0.999	P;D	0.64776	0.719;0.929	T	0.82579	-0.0387	10	0.23891	T	0.37	-22.8446	12.6282	0.56642	0.0:0.1664:0.8336:0.0	.	73;73	Q5VWK5-3;Q5VWK5	.;IL23R_HUMAN	Q	73;73;28;28	ENSP00000321345:E73Q;ENSP00000360041:E73Q	ENSP00000321345:E73Q	E	+	1	0	IL23R	67407759	0.959000	0.32827	0.193000	0.23327	0.401000	0.30781	1.782000	0.38654	1.459000	0.47892	0.655000	0.94253	GAA		0.343	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		9	227	0	0	0	0	9	227				
LRRC7	57554	broad.mit.edu	37	1	70518708	70518708	+	Splice_Site	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:70518708G>C	ENST00000035383.5	+	21	4026		c.e21-1		LRRC7_ENST00000415775.2_Splice_Site|LRRC7_ENST00000310961.5_Splice_Site	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTTGCAATAGACCCCGTCCC	0.393																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.e21-1		leucine rich repeat containing 7							118.0	113.0	115.0					1																	70518708		2203	4300	6503	SO:0001630	splice_region_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70518708G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3997-1G>C	1.37:g.70518708G>C						LRRC7_uc009wbg.2_Splice_Site_p.T617_splice|LRRC7_uc001deq.2_Splice_Site_p.T527_splice	p.T1333_splice	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			21	4027	+								Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Splice_Site	SNP	ENST00000035383.5	37	c.3997_splice	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380816	0.82792	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5344	0.91004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC7	70291296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.270000	0.89880	2.616000	0.88540	0.655000	0.94253	.		0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	Intron	8	196	0	0	0	0	8	196				
ACADM	34	broad.mit.edu	37	1	76215195	76215195	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:76215195G>A	ENST00000370841.4	+	9	1237	c.800G>A	c.(799-801)gGa>gAa	p.G267E	ACADM_ENST00000370834.5_Missense_Mutation_p.G300E|ACADM_ENST00000543667.1_Missense_Mutation_p.G78E|ACADM_ENST00000541113.1_Missense_Mutation_p.G231E|ACADM_ENST00000420607.2_Missense_Mutation_p.G271E	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	267			G -> R (in ACADMD). {ECO:0000269|PubMed:1684086}.		cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	ATTGGTGACGGAGCTGGTTTC	0.343																																						uc001dgw.3		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(799-801)GGA>GAA		medium-chain acyl-CoA dehydrogenase isoform a							128.0	140.0	136.0					1																	76215195		2203	4300	6503	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76215195G>A	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.800G>A	1.37:g.76215195G>A	ENSP00000359878:p.Gly267Glu					ACADM_uc010ord.1_Missense_Mutation_p.G181E|ACADM_uc009wbp.2_Missense_Mutation_p.G271E|ACADM_uc009wbr.2_Missense_Mutation_p.G300E|ACADM_uc010ore.1_Missense_Mutation_p.G231E|ACADM_uc010orf.1_Missense_Mutation_p.G78E|ACADM_uc001dgx.3_Missense_Mutation_p.G181E|ACADM_uc010org.1_Missense_Mutation_p.G137E|ACADM_uc009wbs.1_RNA	p.G267E	NM_000016	NP_000007	P11310	ACADM_HUMAN			9	1230	+			267		G -> R (in ACADMD).			Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.800G>A	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358181	0.95854	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	5.73	5.73	0.89815	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	M	0.92367	3.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.999	D	0.99593	1.0976	10	0.87932	D	0	.	19.5081	0.95127	0.0:0.0:1.0:0.0	.	231;181;300;271;267	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	E	267;300;231;78;271	ENSP00000359878:G267E;ENSP00000359871:G300E;ENSP00000442324:G231E;ENSP00000446176:G78E;ENSP00000409612:G271E	ENSP00000359871:G300E	G	+	2	0	ACADM	75987783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.586000	0.98226	2.703000	0.92315	0.557000	0.71058	GGA		0.343	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			14	179	0	0	0	0	14	179				
LRRC8C	84230	broad.mit.edu	37	1	90178478	90178478	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:90178478G>C	ENST00000370454.4	+	3	604	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	117					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)		GATGTGTTATGAGCGAGCCCT	0.453																																						uc001dnl.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(349-351)GAG>CAG		leucine rich repeat containing 8 family, member							131.0	124.0	126.0					1																	90178478		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178478G>C		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.349G>C	1.37:g.90178478G>C	ENSP00000359483:p.Glu117Gln						p.E117Q	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	591	+		all_lung(203;0.126)	117					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.349G>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126601	0.77549	.	.	ENSG00000171488	ENST00000370454	T	0.25579	1.79	5.85	5.85	0.93711	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.49126	1.545	0.54753	D	0.999986	D	0.89917	1.0	D	0.79108	0.992	T	0.01795	-1.1272	10	0.37606	T	0.19	.	20.1496	0.98084	0.0:0.0:1.0:0.0	.	117	Q8TDW0	LRC8C_HUMAN	Q	117	ENSP00000359483:E117Q	ENSP00000359483:E117Q	E	+	1	0	LRRC8C	89951066	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.872000	0.87187	2.755000	0.94549	0.655000	0.94253	GAG		0.453	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		8	222	0	0	0	0	8	222				
HFM1	164045	broad.mit.edu	37	1	91841220	91841220	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:91841220C>G	ENST00000370425.3	-	12	1558	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	HFM1_ENST00000370424.3_Missense_Mutation_p.R166T|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	487					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCACTGGTCTATGGCTCTC	0.378																																						uc001doa.3		NA																	0					0						c.(1459-1461)AGA>ACA		HFM1 protein							135.0	127.0	130.0					1																	91841220		1863	4099	5962	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91841220C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1460G>C	1.37:g.91841220C>G	ENSP00000359454:p.Arg487Thr					HFM1_uc010osu.1_Missense_Mutation_p.R166T|HFM1_uc010osv.1_Missense_Mutation_p.R171T	p.R487T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	12	1560	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	487					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1460G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666410	0.88251	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.94457	-0.63;-3.43	5.4	5.4	0.78164	DEAD-like helicase (1);	0.113565	0.28964	U	0.013562	D	0.97967	0.9331	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98860	1.0762	10	0.87932	D	0	.	19.1759	0.93602	0.0:1.0:0.0:0.0	.	166;487	A6NGI5;A2PYH4	.;HFM1_HUMAN	T	487;166;171;520	ENSP00000359454:R487T;ENSP00000359453:R166T	ENSP00000359450:R171T	R	-	2	0	HFM1	91613808	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.762000	0.85270	2.544000	0.85801	0.563000	0.77884	AGA		0.378	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		8	286	0	0	0	0	8	286				
HIST2H2AB	317772	broad.mit.edu	37	1	149859462	149859462	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:149859462G>A	ENST00000331128.3	-	1	4	c.5C>T	c.(4-6)tCa>tTa	p.S2L	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'UTR	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	2						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCCGCGTCCTGACATTACGGC	0.537																																						uc001ete.2		NA																	0				ovary(1)|breast(1)	2						c.(4-6)TCA>TTA		histone cluster 2, H2ab							54.0	59.0	57.0					1																	149859462		2186	4277	6463	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859462G>A	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.5C>T	1.37:g.149859462G>A	ENSP00000332790:p.Ser2Leu					HIST2H2BE_uc001etc.2_5'Flank	p.S2L	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	5	-	Breast(34;0.0124)|all_hematologic(923;0.127)		2	S->A: Blocks the inhibition of transcription by RPS6KA5/MSK1.					Missense_Mutation	SNP	ENST00000331128.3	37	c.5C>T	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814145	0.32053	.	.	ENSG00000184270	ENST00000331128	D	0.92965	-3.14	5.27	5.27	0.74061	Histone-fold (2);	0.169438	0.41001	D	0.000964	D	0.92296	0.7556	M	0.93898	3.47	0.39950	D	0.974522	B	0.25904	0.137	B	0.17722	0.019	D	0.92221	0.5784	10	0.87932	D	0	.	16.7454	0.85470	0.0:0.0:1.0:0.0	.	2	Q8IUE6	H2A2B_HUMAN	L	2	ENSP00000332790:S2L	ENSP00000332790:S2L	S	-	2	0	HIST2H2AB	148126086	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	5.432000	0.66514	2.621000	0.88768	0.655000	0.94253	TCA		0.537	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		12	263	0	0	0	0	12	263				
PIP5K1A	8394	broad.mit.edu	37	1	151204833	151204833	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:151204833G>A	ENST00000368888.4	+	6	900	c.478G>A	c.(478-480)Gat>Aat	p.D160N	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.D148N|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.D147N|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.D148N	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	160	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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;0.181)			CCGGCCCGATGATTACTTGGT	0.498																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(478-480)GAT>AAT		phosphatidylinositol-4-phosphate 5-kinase, type							138.0	130.0	133.0					1																	151204833		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151204833G>A	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.478G>A	1.37:g.151204833G>A	ENSP00000357883:p.Asp160Asn					PIP5K1A_uc001exi.2_Missense_Mutation_p.D147N|PIP5K1A_uc010pcu.1_Missense_Mutation_p.D148N|PIP5K1A_uc001exk.2_Missense_Mutation_p.D147N|PIP5K1A_uc010pcv.1_5'Flank	p.D160N	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	930	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		160			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.478G>A	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480380	0.96307	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.11	5.11	0.69529	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.93283	3.4	0.80722	D	1	P;D;P;D	0.76494	0.929;0.999;0.758;0.999	P;D;B;D	0.71414	0.477;0.963;0.21;0.973	T	0.75665	-0.3239	10	0.87932	D	0	.	18.3861	0.90466	0.0:0.0:1.0:0.0	.	148;147;160;147	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	N	147;148;148;147;160	ENSP00000271663:D147N;ENSP00000386432:D148N;ENSP00000415648:D148N;ENSP00000357885:D147N;ENSP00000357883:D160N	ENSP00000271663:D147N	D	+	1	0	PIP5K1A	149471457	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.602000	0.98312	2.683000	0.91414	0.479000	0.44913	GAT		0.498	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		9	284	0	0	0	0	9	284				
TCHH	7062	broad.mit.edu	37	1	152083217	152083217	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152083217C>G	ENST00000368804.1	-	2	2475	c.2476G>C	c.(2476-2478)Gag>Cag	p.E826Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	826					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCCCTCTCGCGTCGCTGG	0.687																																						uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2476-2478)GAG>CAG		trichohyalin							30.0	35.0	33.0					1																	152083217		1994	4157	6151	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083217C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2476G>C	1.37:g.152083217C>G	ENSP00000357794:p.Glu826Gln					TCHH_uc009wne.1_Missense_Mutation_p.E826Q	p.E826Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2476	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		826					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2476G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	3.200	-0.163884	0.06502	.	.	ENSG00000159450	ENST00000368804	T	0.05513	3.43	3.77	3.77	0.43336	.	.	.	.	.	T	0.04092	0.0114	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	P	0.57776	0.827	T	0.42682	-0.9437	9	0.15499	T	0.54	.	13.1172	0.59307	0.0:1.0:0.0:0.0	.	826	Q07283	TRHY_HUMAN	Q	826	ENSP00000357794:E826Q	ENSP00000357794:E826Q	E	-	1	0	TCHH	150349841	0.000000	0.05858	0.116000	0.21606	0.178000	0.23041	0.319000	0.19522	1.648000	0.50643	0.450000	0.29827	GAG		0.687	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	173	0	0	0	0	6	173				
TCHH	7062	broad.mit.edu	37	1	152083788	152083788	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152083788C>G	ENST00000368804.1	-	2	1904	c.1905G>C	c.(1903-1905)aaG>aaC	p.K635N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	635	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCTCGCTCTTCAGCAGCT	0.672																																						uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1903-1905)AAG>AAC		trichohyalin							40.0	46.0	44.0					1																	152083788		2000	4174	6174	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083788C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1905G>C	1.37:g.152083788C>G	ENSP00000357794:p.Lys635Asn					TCHH_uc009wne.1_Missense_Mutation_p.K635N	p.K635N	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1905	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		635			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1905G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.801	0.713540	0.15306	.	.	ENSG00000159450	ENST00000368804	T	0.10573	2.86	2.37	-2.62	0.06152	.	.	.	.	.	T	0.01353	0.0044	N	0.19112	0.55	0.09310	N	1	B	0.31931	0.347	B	0.17722	0.019	T	0.46456	-0.9190	9	0.21540	T	0.41	.	6.4197	0.21736	0.0:0.4087:0.0:0.5913	.	635	Q07283	TRHY_HUMAN	N	635	ENSP00000357794:K635N	ENSP00000357794:K635N	K	-	3	2	TCHH	150350412	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	0.297000	0.19101	-0.378000	0.07918	0.109000	0.15622	AAG		0.672	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		5	157	0	0	0	0	5	157				
FLG2	388698	broad.mit.edu	37	1	152323783	152323783	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152323783G>C	ENST00000388718.5	-	3	6551	c.6479C>G	c.(6478-6480)tCt>tGt	p.S2160C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2160					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGACCAGACTGGCCATG	0.512																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6478-6480)TCT>TGT		filaggrin family member 2							365.0	329.0	341.0					1																	152323783		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323783G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6479C>G	1.37:g.152323783G>C	ENSP00000373370:p.Ser2160Cys					uc001ezv.2_Intron	p.S2160C	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6552	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2160			Filaggrin 10.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6479C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197511	0.38806	.	.	ENSG00000143520	ENST00000388718	T	0.37584	1.19	3.1	3.1	0.35709	.	.	.	.	.	T	0.40645	0.1125	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.06570	-1.0819	9	0.44086	T	0.13	1.8661	9.9672	0.41732	0.0:0.0:1.0:0.0	.	2160	Q5D862	FILA2_HUMAN	C	2160	ENSP00000373370:S2160C	ENSP00000373370:S2160C	S	-	2	0	FLG2	150590407	0.048000	0.20356	0.002000	0.10522	0.064000	0.16182	2.397000	0.44477	1.776000	0.52262	0.551000	0.68910	TCT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	571	0	0	0	0	8	571				
SPRR2E	6704	broad.mit.edu	37	1	153066128	153066128	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:153066128C>G	ENST00000368751.1	-	2	174	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.E34Q			P22531	SPR2E_HUMAN	small proline-rich protein 2E	34	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCAGGGCTCAGGGCACTTC	0.617																																						uc001fbh.2		NA																	0				ovary(1)	1						c.(100-102)GAG>CAG		small proline-rich protein 2E							114.0	114.0	114.0					1																	153066128		2203	4297	6500	SO:0001583	missense	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066128C>G	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.100G>C	1.37:g.153066128C>G	ENSP00000357740:p.Glu34Gln					SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.E34Q	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	161	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		34			3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.|2.		Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	c.100G>C	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246603	0.22796	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.44881	0.91;0.91	4.3	3.31	0.37934	.	0.000000	0.33040	N	0.005357	T	0.20129	0.0484	.	.	.	0.09310	N	1	P	0.47677	0.899	B	0.42522	0.39	T	0.04885	-1.0920	9	0.87932	D	0	.	8.6249	0.33883	0.2285:0.7715:0.0:0.0	.	34	P22531	SPR2E_HUMAN	Q	34	ENSP00000357740:E34Q;ENSP00000357739:E34Q	ENSP00000357739:E34Q	E	-	1	0	SPRR2E	151332752	0.002000	0.14202	0.128000	0.21923	0.233000	0.25261	0.209000	0.17435	1.972000	0.57404	0.405000	0.27470	GAG		0.617	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			10	531	0	0	0	0	10	531				
ASH1L	55870	broad.mit.edu	37	1	155327111	155327111	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155327111C>T	ENST00000368346.3	-	15	7705	c.7066G>A	c.(7066-7068)Gaa>Aaa	p.E2356K	RNU6-106P_ENST00000384405.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.E2351K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2356					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTACCTTTCACGATTGGAC	0.363																																						uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(7066-7068)GAA>AAA		absent, small, or homeotic 1-like							126.0	122.0	123.0					1																	155327111		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155327111C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7066G>A	1.37:g.155327111C>T	ENSP00000357330:p.Glu2356Lys					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2351K	p.E2356K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		15	7546	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2356					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7066G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.380768	0.95945	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90385	-2.66;-2.66	4.57	4.57	0.56435	Bromodomain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	L	0.58810	1.83	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.73708	0.956;0.981	D	0.93915	0.7200	10	0.72032	D	0.01	.	17.1406	0.86752	0.0:1.0:0.0:0.0	.	2356;2351	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	2356;2351	ENSP00000357330:E2356K;ENSP00000376204:E2351K	ENSP00000357330:E2356K	E	-	1	0	ASH1L	153593735	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.498000	0.73679	2.357000	0.79964	0.585000	0.79938	GAA		0.363	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		6	159	0	0	0	0	6	159				
ASH1L	55870	broad.mit.edu	37	1	155448995	155448995	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155448995C>G	ENST00000368346.3	-	3	4305	c.3666G>C	c.(3664-3666)aaG>aaC	p.K1222N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K1222N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1222					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATGCCTCCTCTTTTTTTGCC	0.413																																						uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3664-3666)AAG>AAC		absent, small, or homeotic 1-like							160.0	167.0	164.0					1																	155448995		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448995C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3666G>C	1.37:g.155448995C>G	ENSP00000357330:p.Lys1222Asn					ASH1L_uc001fkt.2_Missense_Mutation_p.K1222N|ASH1L_uc009wqr.1_Missense_Mutation_p.K1222N	p.K1222N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4146	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1222					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3666G>C		.	.	.	.	.	.	.	.	.	.	C	11.59	1.684557	0.29872	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89939	-2.59;-2.59	5.16	4.24	0.50183	.	0.061525	0.64402	D	0.000006	D	0.82398	0.5028	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.61003	0.766;0.882	D	0.87448	0.2399	10	0.66056	D	0.02	.	13.9086	0.63853	0.0:0.9251:0.0:0.0749	.	1222;1222	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	1222	ENSP00000357330:K1222N;ENSP00000376204:K1222N	ENSP00000357330:K1222N	K	-	3	2	ASH1L	153715619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.201000	0.42734	1.388000	0.46506	0.585000	0.79938	AAG		0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		85	206	0	0	0	0	85	206				
ASH1L	55870	broad.mit.edu	37	1	155449016	155449016	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449016C>G	ENST00000368346.3	-	3	4284	c.3645G>C	c.(3643-3645)gaG>gaC	p.E1215D	ASH1L_ENST00000392403.3_Missense_Mutation_p.E1215D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1215					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1215D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACAAAATTTCTCTGCCCTGT	0.418																																						uc009wqq.2		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3643-3645)GAG>GAC		absent, small, or homeotic 1-like							147.0	153.0	151.0					1																	155449016		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449016C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3645G>C	1.37:g.155449016C>G	ENSP00000357330:p.Glu1215Asp					ASH1L_uc001fkt.2_Missense_Mutation_p.E1215D|ASH1L_uc009wqr.1_Missense_Mutation_p.E1215D	p.E1215D	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4125	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1215					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3645G>C		.	.	.	.	.	.	.	.	.	.	C	14.14	2.446331	0.43429	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91521	-2.86;-2.86	5.16	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	L	0.36672	1.1	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.75484	0.967;0.986	D	0.88801	0.3285	10	0.59425	D	0.04	.	10.745	0.46175	0.0:0.755:0.0:0.245	.	1215;1215	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	D	1215	ENSP00000357330:E1215D;ENSP00000376204:E1215D	ENSP00000357330:E1215D	E	-	3	2	ASH1L	153715640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.524000	0.45589	0.774000	0.33427	0.585000	0.79938	GAG		0.418	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		73	192	0	0	0	0	73	192				
ASH1L	55870	broad.mit.edu	37	1	155449680	155449680	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449680C>G	ENST00000368346.3	-	3	3620	c.2981G>C	c.(2980-2982)aGa>aCa	p.R994T	ASH1L_ENST00000392403.3_Missense_Mutation_p.R994T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	994					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGTTTCTTTCTCTTTAAAGT	0.323																																						uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(2980-2982)AGA>ACA		absent, small, or homeotic 1-like							48.0	51.0	50.0					1																	155449680		2202	4297	6499	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449680C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2981G>C	1.37:g.155449680C>G	ENSP00000357330:p.Arg994Thr					ASH1L_uc001fkt.2_Missense_Mutation_p.R994T|ASH1L_uc009wqr.1_Missense_Mutation_p.R994T	p.R994T	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3461	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		994					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2981G>C		.	.	.	.	.	.	.	.	.	.	C	18.71	3.681998	0.68042	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.92048	-2.96;-2.96	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.93616	0.6943	10	0.72032	D	0.01	.	18.7713	0.91893	0.0:1.0:0.0:0.0	.	994;994	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	T	994	ENSP00000357330:R994T;ENSP00000376204:R994T	ENSP00000357330:R994T	R	-	2	0	ASH1L	153716304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.768000	0.95171	0.650000	0.86243	AGA		0.323	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		23	65	0	0	0	0	23	65				
ASH1L	55870	broad.mit.edu	37	1	155449745	155449745	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449745C>G	ENST00000368346.3	-	3	3555	c.2916G>C	c.(2914-2916)aaG>aaC	p.K972N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K972N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	972			K -> R. {ECO:0000269|PubMed:23033978}.		cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K972N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATTGTTTCTCTTGGTAATTT	0.343																																						uc009wqq.2		NA																	1	Substitution - Missense(1)		prostate(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(2914-2916)AAG>AAC		absent, small, or homeotic 1-like							74.0	75.0	75.0					1																	155449745		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449745C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2916G>C	1.37:g.155449745C>G	ENSP00000357330:p.Lys972Asn					ASH1L_uc001fkt.2_Missense_Mutation_p.K972N|ASH1L_uc009wqr.1_Missense_Mutation_p.K972N	p.K972N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3396	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		972					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2916G>C		.	.	.	.	.	.	.	.	.	.	C	8.451	0.852985	0.17106	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90069	-2.61;-2.6	5.16	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	N	0.17082	0.46	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.003;0.007	T	0.66256	-0.5969	10	0.37606	T	0.19	.	8.5119	0.33222	0.1517:0.7706:0.0:0.0777	.	972;972	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	972	ENSP00000357330:K972N;ENSP00000376204:K972N	ENSP00000357330:K972N	K	-	3	2	ASH1L	153716369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.800000	0.38833	1.426000	0.47256	0.650000	0.86243	AAG		0.343	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		50	101	0	0	0	0	50	101				
ASH1L	55870	broad.mit.edu	37	1	155449774	155449774	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449774C>G	ENST00000368346.3	-	3	3526	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.E963Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	963					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGTTCCATCTCAAGGTCACTC	0.353																																						uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(2887-2889)GAG>CAG		absent, small, or homeotic 1-like							113.0	111.0	112.0					1																	155449774		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449774C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2887G>C	1.37:g.155449774C>G	ENSP00000357330:p.Glu963Gln					ASH1L_uc001fkt.2_Missense_Mutation_p.E963Q|ASH1L_uc009wqr.1_Missense_Mutation_p.E963Q	p.E963Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3367	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		963					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2887G>C		.	.	.	.	.	.	.	.	.	.	C	15.01	2.706147	0.48412	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90788	-2.73;-2.73	5.16	5.16	0.70880	.	0.057947	0.64402	D	0.000002	T	0.74869	0.3773	N	0.08118	0	0.80722	D	1	B;B	0.28713	0.141;0.22	B;B	0.23574	0.021;0.047	T	0.77547	-0.2547	10	0.66056	D	0.02	.	16.6105	0.84881	0.0:1.0:0.0:0.0	.	963;963	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Q	963	ENSP00000357330:E963Q;ENSP00000376204:E963Q	ENSP00000357330:E963Q	E	-	1	0	ASH1L	153716398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.937000	0.48979	2.699000	0.92147	0.650000	0.86243	GAG		0.353	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		76	150	0	0	0	0	76	150				
SEMA4A	64218	broad.mit.edu	37	1	156142792	156142792	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:156142792G>A	ENST00000368285.3	+	11	1577	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	SEMA4A_ENST00000355014.2_Missense_Mutation_p.G437E|SEMA4A_ENST00000368282.1_Missense_Mutation_p.G437E|SEMA4A_ENST00000368284.1_Missense_Mutation_p.G305E|SEMA4A_ENST00000368286.2_Missense_Mutation_p.G305E|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	437	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATGTACCTGGGAACCAGTGAG	0.557																																						uc001fnl.2		NA																	0				ovary(1)|skin(1)	2						c.(1309-1311)GGA>GAA		semaphorin B precursor							54.0	47.0	49.0					1																	156142792		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156142792G>A	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1310G>A	1.37:g.156142792G>A	ENSP00000357268:p.Gly437Glu					SEMA4A_uc009wrq.2_Missense_Mutation_p.G437E|SEMA4A_uc001fnm.2_Missense_Mutation_p.G437E|SEMA4A_uc001fnn.2_Missense_Mutation_p.G305E|SEMA4A_uc001fno.2_Missense_Mutation_p.G437E	p.G437E	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			11	1414	+	Hepatocellular(266;0.158)		437			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.1310G>A	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214898	0.79352	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.203652	0.41294	D	0.000906	T	0.64394	0.2594	H	0.96398	3.815	0.45056	D	0.998075	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76879	-0.2796	10	0.87932	D	0	.	16.604	0.84823	0.0:0.0:1.0:0.0	.	305;437	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	E	437;437;305;399;399;305;437	ENSP00000347117:G437E;ENSP00000357268:G437E;ENSP00000357267:G305E;ENSP00000357269:G305E;ENSP00000357265:G437E	ENSP00000347117:G437E	G	+	2	0	SEMA4A	154409416	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.142000	0.64820	2.514000	0.84764	0.561000	0.74099	GGA		0.557	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		5	58	0	0	0	0	5	58				
IFI16	3428	broad.mit.edu	37	1	159002440	159002440	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:159002440C>G	ENST00000295809.7	+	7	1543	c.1288C>G	c.(1288-1290)Cag>Gag	p.Q430E	IFI16_ENST00000340979.6_Missense_Mutation_p.Q430E|IFI16_ENST00000368131.4_Missense_Mutation_p.Q430E|IFI16_ENST00000368132.3_Missense_Mutation_p.Q430E|IFI16_ENST00000359709.3_Missense_Mutation_p.Q374E|IFI16_ENST00000448393.2_Missense_Mutation_p.Q430E|IFI16_ENST00000430894.2_Missense_Mutation_p.Q378E			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	430					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCGGACTCCTCAGATGCCACC	0.512																																						uc001ftg.2		NA																	0				ovary(1)	1						c.(1288-1290)CAG>GAG		interferon, gamma-inducible protein 16							150.0	139.0	143.0					1																	159002440		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159002440C>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1288C>G	1.37:g.159002440C>G	ENSP00000295809:p.Gln430Glu					IFI16_uc010pis.1_Missense_Mutation_p.Q374E|IFI16_uc001fth.2_Missense_Mutation_p.Q29E|IFI16_uc010pit.1_Missense_Mutation_p.Q29E	p.Q430E	NM_005531	NP_005522	Q16666	IF16_HUMAN			7	1578	+	all_hematologic(112;0.0429)		430					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1288C>G		.	.	.	.	.	.	.	.	.	.	C	4.973	0.180720	0.09443	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.05319	3.54;3.53;3.58;3.58;3.46	2.15	1.22	0.21188	.	.	.	.	.	T	0.05273	0.0140	L	0.48642	1.525	0.09310	N	1	P;B;D	0.61697	0.544;0.201;0.99	B;B;D	0.64321	0.145;0.059;0.924	T	0.32295	-0.9912	9	0.37606	T	0.19	.	4.6192	0.12442	0.0:0.8078:0.0:0.1922	.	378;430;430	E7EPR3;Q16666-3;Q16666-2	.;.;.	E	430;430;430;430;378	ENSP00000295809:Q430E;ENSP00000342741:Q430E;ENSP00000357113:Q430E;ENSP00000357114:Q430E;ENSP00000394935:Q378E	ENSP00000295809:Q430E	Q	+	1	0	IFI16	157269064	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.051000	0.14141	0.447000	0.26695	0.462000	0.41574	CAG		0.512	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		11	188	0	0	0	0	11	188				
ATP1A4	480	broad.mit.edu	37	1	160128899	160128899	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:160128899C>G	ENST00000368081.4	+	5	1104	c.633C>G	c.(631-633)ctC>ctG	p.L211L		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	211					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTGACCTCCGGCTTATCT	0.532																																						uc001fve.3		NA																	0				ovary(2)|skin(2)	4						c.(631-633)CTC>CTG		Na+/K+ -ATPase alpha 4 subunit isoform 1							125.0	111.0	116.0					1																	160128899		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160128899C>G	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.633C>G	1.37:g.160128899C>G						ATP1A4_uc001fvf.3_RNA	p.L211L	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	1112	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		211			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.633C>G	CCDS1197.1																																																																																				0.532	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		5	132	0	0	0	0	5	132				
ATP1A4	480	broad.mit.edu	37	1	160147443	160147443	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:160147443G>A	ENST00000368081.4	+	18	3196	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	ATP1A4_ENST00000470705.1_Missense_Mutation_p.G45R|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	909					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACAGCTACGGACAGCAGTG	0.488																																						uc001fve.3		NA																	0				ovary(2)|skin(2)	4						c.(2725-2727)GGA>AGA		Na+/K+ -ATPase alpha 4 subunit isoform 1							108.0	103.0	105.0					1																	160147443		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160147443G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2725G>A	1.37:g.160147443G>A	ENSP00000357060:p.Gly909Arg					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.G412R|ATP1A4_uc001fvh.2_Missense_Mutation_p.G45R	p.G909R	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		18	3204	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		909			Extracellular (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2725G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393959	0.83011	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.89939	-2.59;-2.59	4.18	4.18	0.49190	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96025	0.9012	10	0.87932	D	0	.	14.3968	0.67015	0.0:0.0:1.0:0.0	.	909	Q13733	AT1A4_HUMAN	R	909;45	ENSP00000357060:G909R;ENSP00000433094:G45R	ENSP00000357060:G909R	G	+	1	0	ATP1A4	158414067	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	9.657000	0.98554	2.342000	0.79632	0.491000	0.48974	GGA		0.488	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		41	95	0	0	0	0	41	95				
FMO2	2327	broad.mit.edu	37	1	171178065	171178065	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:171178065C>G	ENST00000209929.7	+	9	1547	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_Silent_p.L463L|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	461					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGTGAGACTCTATTTCGGAC	0.478																																						uc001ghk.1		NA																	0				skin(1)	1						c.(1387-1389)CTC>CTG		flavin containing monooxygenase 2							186.0	184.0	185.0					1																	171178065		2203	4300	6503	SO:0001819	synonymous_variant	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171178065C>G	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1389C>G	1.37:g.171178065C>G						FMO2_uc010pmd.1_Silent_p.L243L	p.L463L	NM_001460	NP_001451	Q99518	FMO2_HUMAN			9	1506	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		463					Q53XR0	Silent	SNP	ENST00000209929.7	37	c.1389C>G	CCDS1293.1																																																																																				0.478	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		14	533	0	0	0	0	14	533				
TNFSF4	7292	broad.mit.edu	37	1	173155684	173155684	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:173155684G>C	ENST00000281834.3	-	3	659	c.523C>G	c.(523-525)Caa>Gaa	p.Q175E	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Missense_Mutation_p.Q125E	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	175					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCAGGATTTTGATGGATAAGA	0.468																																						uc001giw.2		NA																	0				central_nervous_system(1)	1						c.(523-525)CAA>GAA		tumor necrosis factor (ligand) superfamily,							68.0	63.0	65.0					1																	173155684		2203	4300	6503	SO:0001583	missense	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155684G>C	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.523C>G	1.37:g.173155684G>C	ENSP00000281834:p.Gln175Glu					TNFSF4_uc001giv.2_Missense_Mutation_p.Q125E	p.Q175E	NM_003326	NP_003317	P23510	TNFL4_HUMAN			3	679	-			175			Extracellular (Potential).		Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	ENST00000281834.3	37	c.523C>G	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759608	0.69763	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	D;D	0.94417	-3.42;-3.42	5.38	5.38	0.77491	Tumour necrosis factor (2);Tumour necrosis factor-like (1);	0.231257	0.30911	N	0.008637	D	0.94719	0.8296	M	0.63428	1.95	0.24107	N	0.995851	D;D	0.69078	0.997;0.997	P;P	0.60068	0.868;0.868	D	0.90187	0.4247	10	0.56958	D	0.05	-6.1194	14.5119	0.67794	0.0:0.0:1.0:0.0	.	175;125	P23510;Q8IV74	TNFL4_HUMAN;.	E	125;175;125	ENSP00000356691:Q125E;ENSP00000281834:Q175E	ENSP00000281834:Q175E	Q	-	1	0	TNFSF4	171422307	1.000000	0.71417	0.939000	0.37840	0.713000	0.41058	2.634000	0.46528	2.802000	0.96397	0.655000	0.94253	CAA		0.468	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			4	117	0	0	0	0	4	117				
ASTN1	460	broad.mit.edu	37	1	176993782	176993782	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:176993782G>C	ENST00000367654.3	-	6	1418	c.1207C>G	c.(1207-1209)Cac>Gac	p.H403D	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.H403D|ASTN1_ENST00000424564.2_Missense_Mutation_p.H403D|ASTN1_ENST00000361833.2_Missense_Mutation_p.H403D	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	403					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTTGACGTGAGAGGAGCAC	0.552																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1207-1209)CAC>GAC		astrotactin isoform 1							160.0	127.0	138.0					1																	176993782		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993782G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1207C>G	1.37:g.176993782G>C	ENSP00000356626:p.His403Asp					ASTN1_uc001glb.1_Missense_Mutation_p.H403D|ASTN1_uc001gld.1_Missense_Mutation_p.H403D|ASTN1_uc009wwx.1_Missense_Mutation_p.H403D|ASTN1_uc001gle.3_RNA	p.H403D	NM_004319	NP_004310	O14525	ASTN1_HUMAN			6	1419	-			403					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1207C>G		.	.	.	.	.	.	.	.	.	.	G	15.20	2.764316	0.49574	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14022	2.54;2.96;2.96;2.54	5.03	5.03	0.67393	.	0.048617	0.85682	D	0.000000	T	0.09335	0.0230	N	0.19112	0.55	0.80722	D	1	B;B;B	0.31817	0.341;0.218;0.218	B;B;B	0.25291	0.059;0.059;0.059	T	0.25152	-1.0140	10	0.13470	T	0.59	-31.0966	17.9705	0.89111	0.0:0.0:1.0:0.0	.	403;403;403	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	D	403	ENSP00000356629:H403D;ENSP00000354536:H403D;ENSP00000356626:H403D;ENSP00000395041:H403D	ENSP00000354536:H403D	H	-	1	0	ASTN1	175260405	1.000000	0.71417	0.962000	0.40283	0.781000	0.44180	9.291000	0.96070	2.340000	0.79590	0.655000	0.94253	CAC		0.552	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		5	84	0	0	0	0	5	84				
ASPM	259266	broad.mit.edu	37	1	197072981	197072981	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:197072981T>A	ENST00000367409.4	-	18	5656	c.5400A>T	c.(5398-5400)caA>caT	p.Q1800H	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1800					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTTTGACTTGCAAGAAGT	0.368																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(5398-5400)CAA>CAT		asp (abnormal spindle)-like, microcephaly							101.0	102.0	101.0					1																	197072981		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072981T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5400A>T	1.37:g.197072981T>A	ENSP00000356379:p.Gln1800His					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.Q1800H	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	5657	-			1800					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5400A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	7.108	0.575356	0.13623	.	.	ENSG00000066279	ENST00000367409	T	0.73047	-0.71	5.64	2.1	0.27182	.	0.556098	0.18743	N	0.132384	T	0.68778	0.3038	M	0.80982	2.52	0.09310	N	0.999999	P	0.37824	0.609	B	0.38264	0.269	T	0.57093	-0.7870	10	0.31617	T	0.26	.	9.0017	0.36085	0.0:0.2148:0.0:0.7852	.	1800	Q8IZT6	ASPM_HUMAN	H	1800	ENSP00000356379:Q1800H	ENSP00000356379:Q1800H	Q	-	3	2	ASPM	195339604	0.112000	0.22096	0.476000	0.27291	0.136000	0.21042	2.095000	0.41729	0.105000	0.17753	-0.386000	0.06593	CAA		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		93	146	0	0	0	0	93	146				
PPP1R15B	84919	broad.mit.edu	37	1	204379825	204379825	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:204379825G>C	ENST00000367188.4	-	1	1094	c.715C>G	c.(715-717)Cag>Gag	p.Q239E	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	239					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCACTGTTCTGATAGCTGACT	0.507																																						uc001hav.3		NA																	0				ovary(1)|pancreas(1)	2						c.(715-717)CAG>GAG		protein phosphatase 1, regulatory subunit 15B							100.0	96.0	97.0					1																	204379825		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204379825G>C	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.715C>G	1.37:g.204379825G>C	ENSP00000356156:p.Gln239Glu						p.Q239E	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1120	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		239					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.715C>G	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	G	9.133	1.011842	0.19277	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.22539	1.95	5.2	3.26	0.37387	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.225867	0.31438	N	0.007658	T	0.22085	0.0532	M	0.61703	1.905	0.09310	N	1	B	0.14438	0.01	B	0.19391	0.025	T	0.22487	-1.0215	10	0.72032	D	0.01	-4.0761	8.4852	0.33067	0.0:0.1688:0.6561:0.1751	.	239	Q5SWA1	PR15B_HUMAN	E	239;149	ENSP00000356156:Q239E	ENSP00000356156:Q239E	Q	-	1	0	PPP1R15B	202646448	0.769000	0.28531	0.497000	0.27552	0.098000	0.18820	2.450000	0.44943	0.535000	0.28714	0.655000	0.94253	CAG		0.507	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		6	210	0	0	0	0	6	210				
NEK2	4751	broad.mit.edu	37	1	211842543	211842543	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:211842543G>A	ENST00000366999.4	-	6	1035	c.897C>T	c.(895-897)tcC>tcT	p.S299S	NEK2_ENST00000540251.1_Silent_p.S256S|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Silent_p.S299S	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	299	Interaction with PCNT.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATACAGGGCTGGAATCCTGCG	0.443																																						uc001hir.1		NA																	0				breast(2)|stomach(1)	3						c.(895-897)TCC>TCT		NIMA-related kinase 2							153.0	155.0	154.0					1																	211842543		2203	4300	6503	SO:0001819	synonymous_variant	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211842543G>A	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.897C>T	1.37:g.211842543G>A						NEK2_uc001hiq.1_Silent_p.S299S|NEK2_uc001his.3_Silent_p.S299S|NEK2_uc001hit.1_RNA	p.S299S	NM_002497	NP_002488	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	6	1043	-			299			Interaction with PCNT.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Silent	SNP	ENST00000366999.4	37	c.897C>T	CCDS1500.1																																																																																				0.443	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		16	424	0	0	0	0	16	424				
PROX1	5629	broad.mit.edu	37	1	214171409	214171409	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:214171409T>C	ENST00000366958.4	+	2	2139	c.1531T>C	c.(1531-1533)Tct>Cct	p.S511P	PROX1_ENST00000261454.4_Missense_Mutation_p.S511P|PROX1_ENST00000498508.2_Missense_Mutation_p.S511P|PROX1_ENST00000435016.1_Missense_Mutation_p.S511P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	511					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGACAGAGCCTCTCCTGAATC	0.562																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1531-1533)TCT>CCT		prospero homeobox 1							82.0	88.0	86.0					1																	214171409		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171409T>C	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1531T>C	1.37:g.214171409T>C	ENSP00000355925:p.Ser511Pro					PROX1_uc001hkg.1_Missense_Mutation_p.S511P	p.S511P	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1803	+			511					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1531T>C	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206720	0.58343	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.56444	0.5;0.46;0.5;0.5	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	L	0.61387	1.9	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71636	-0.4533	10	0.54805	T	0.06	-3.0309	15.9812	0.80111	0.0:0.0:0.0:1.0	.	511	Q92786	PROX1_HUMAN	P	83;511;511;511;511	ENSP00000420283:S511P;ENSP00000355925:S511P;ENSP00000400694:S511P;ENSP00000261454:S511P	ENSP00000261454:S511P	S	+	1	0	PROX1	212238032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.178000	0.69098	0.533000	0.62120	TCT		0.562	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		5	211	0	0	0	0	5	211				
TP53BP2	7159	broad.mit.edu	37	1	223984046	223984046	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:223984046G>C	ENST00000343537.7	-	13	2486	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S603C|TP53BP2_ENST00000391879.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	726					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGGTGCGTTAGACAGTTTCTT	0.438																																						uc010pvb.1		NA																	0				ovary(2)|lung(1)	3						c.(2194-2196)TCT>TGT		tumor protein p53 binding protein, 2 isoform 1							139.0	135.0	137.0					1																	223984046		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223984046G>C	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2195C>G	1.37:g.223984046G>C	ENSP00000341957:p.Ser732Cys					TP53BP2_uc001hod.2_Missense_Mutation_p.S603C|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.S371C	p.S732C	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2487	-			726					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2195C>G	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.809840	0.70797	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.50001	0.76;0.93	5.68	5.68	0.88126	.	0.107078	0.64402	D	0.000003	T	0.61148	0.2324	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.65987	0.781;0.94	T	0.59606	-0.7423	10	0.49607	T	0.09	.	14.6158	0.68547	0.0:0.0:0.8543:0.1457	.	732;726	B4DG66;Q13625	.;ASPP2_HUMAN	C	603;732	ENSP00000375750:S603C;ENSP00000341957:S732C	ENSP00000341957:S732C	S	-	2	0	TP53BP2	222050669	1.000000	0.71417	0.853000	0.33588	0.650000	0.38633	4.267000	0.58877	2.702000	0.92279	0.655000	0.94253	TCT		0.438	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		6	261	0	0	0	0	6	261				
OBSCN	84033	broad.mit.edu	37	1	228480247	228480247	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:228480247G>T	ENST00000422127.1	+	40	10671	c.10627G>T	c.(10627-10629)Gat>Tat	p.D3543Y	OBSCN_ENST00000359599.6_Missense_Mutation_p.D2390Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D662Y|OBSCN_ENST00000570156.2_Missense_Mutation_p.D3972Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D3543Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D662Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3543	Ig-like 36.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTCATAGAAGATGTGAAAAA	0.567																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(10627-10629)GAT>TAT		obscurin, cytoskeletal calmodulin and							74.0	75.0	75.0					1																	228480247		1963	4159	6122	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228480247G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10627G>T	1.37:g.228480247G>T	ENSP00000409493:p.Asp3543Tyr					OBSCN_uc001hsn.2_Missense_Mutation_p.D3543Y|OBSCN_uc001hsq.1_Missense_Mutation_p.D799Y	p.D3543Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			40	10671	+		Prostate(94;0.0405)	3543			Ig-like 36.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.10627G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408732	0.62399	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	5.31	3.37	0.38596	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.044480	0.07524	N	0.911087	T	0.75206	0.3818	L	0.59436	1.845	0.09310	N	1	D;D	0.63880	0.99;0.993	D;P	0.63597	0.916;0.863	T	0.55952	-0.8059	10	0.44086	T	0.13	.	6.0274	0.19662	0.0767:0.1334:0.6517:0.1382	.	3543;3543	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	3543;3543;662;662;2390	ENSP00000284548:D3543Y;ENSP00000409493:D3543Y;ENSP00000355668:D662Y;ENSP00000355670:D662Y;ENSP00000352613:D2390Y	ENSP00000284548:D3543Y	D	+	1	0	OBSCN	226546870	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	0.915000	0.28638	0.558000	0.29135	0.511000	0.50034	GAT		0.567	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	152	1	0	1.34e-11	1.41e-11	9	152				
CCSAP	126731	broad.mit.edu	37	1	229462743	229462743	+	Silent	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:229462743C>A	ENST00000366687.1	-	2	429	c.378G>T	c.(376-378)gtG>gtT	p.V126V	CCSAP_ENST00000366686.1_Silent_p.V12V|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000284617.2_Silent_p.V126V			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	126					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CTACATCTTTCACTGGCAGTG	0.328																																						uc001htl.3		NA																	0					0						c.(376-378)GTG>GTT		hypothetical protein LOC126731							201.0	197.0	198.0					1																	229462743		2203	4300	6503	SO:0001819	synonymous_variant	126731					centrosome		g.chr1:229462743C>A	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.378G>T	1.37:g.229462743C>A						C1orf96_uc009xfc.2_RNA	p.V126V	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN			3	456	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	126					A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Silent	SNP	ENST00000366687.1	37	c.378G>T	CCDS1577.1																																																																																				0.328	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		52	118	1	0	6.08e-21	6.44e-21	52	118				
LYST	1130	broad.mit.edu	37	1	235972988	235972988	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:235972988C>G	ENST00000389794.3	-	5	1304	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T	LYST_ENST00000536965.1_Missense_Mutation_p.R377T|LYST_ENST00000389793.2_Missense_Mutation_p.R377T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	377					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTCTTTTGTCTTGGTGCAAA	0.378																																						uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(1129-1131)AGA>ACA		lysosomal trafficking regulator							113.0	119.0	117.0					1																	235972988		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972988C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1130G>C	1.37:g.235972988C>G	ENSP00000374444:p.Arg377Thr					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R377T	p.R377T	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1305	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	377					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.1130G>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451708	0.63290	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.15372	2.43;2.43;2.43	5.55	5.55	0.83447	.	0.053558	0.64402	D	0.000001	T	0.34890	0.0913	L	0.56769	1.78	0.46749	D	0.99918	D;P	0.89917	1.0;0.745	D;B	0.83275	0.996;0.347	T	0.01767	-1.1278	10	0.23302	T	0.38	.	12.401	0.55412	0.0:0.8797:0.0:0.1203	.	377;377	Q99698-3;Q99698	.;LYST_HUMAN	T	377	ENSP00000374444:R377T;ENSP00000374443:R377T;ENSP00000438315:R377T	ENSP00000374443:R377T	R	-	2	0	LYST	234039611	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.352000	0.52239	2.612000	0.88384	0.591000	0.81541	AGA		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			10	281	0	0	0	0	10	281				
OR2T4	127074	broad.mit.edu	37	1	248525533	248525533	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:248525533G>A	ENST00000366475.1	+	1	651	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	217						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(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTGCTGTATTGAATCTCTCCT	0.478																																						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(649-651)TTG>TTA		olfactory receptor, family 2, subfamily T,							184.0	177.0	179.0					1																	248525533		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525533G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.651G>A	1.37:g.248525533G>A							p.L217L	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	651	+	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)		217			Extracellular (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.651G>A	CCDS31113.1																																																																																				0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		13	282	0	0	0	0	13	282				
KIAA1462	57608	broad.mit.edu	37	10	30316406	30316406	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:30316406C>G	ENST00000375377.1	-	3	2772	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	891					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGCTGTGGCTCAACCCTCATT	0.622																																						uc001iux.2		NA																	0				ovary(4)	4						c.(2671-2673)GAG>CAG		hypothetical protein LOC57608							62.0	68.0	66.0					10																	30316406		2112	4220	6332	SO:0001583	missense	57608							g.chr10:30316406C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2671G>C	10.37:g.30316406C>G	ENSP00000364526:p.Glu891Gln					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.E753Q|KIAA1462_uc009xle.1_Missense_Mutation_p.E891Q	p.E891Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2730	-			891					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.2671G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815900	0.32145	.	.	ENSG00000165757	ENST00000375377	T	0.13089	2.62	5.26	3.4	0.38934	.	0.868989	0.10389	N	0.680624	T	0.18130	0.0435	L	0.54323	1.7	0.09310	N	1	P	0.49635	0.926	P	0.47626	0.552	T	0.13282	-1.0515	10	0.23302	T	0.38	-4.2652	8.9483	0.35773	0.0:0.7724:0.0:0.2276	.	891	Q9P266	K1462_HUMAN	Q	891	ENSP00000364526:E891Q	ENSP00000364526:E891Q	E	-	1	0	KIAA1462	30356412	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.466000	0.06672	0.615000	0.30124	0.655000	0.94253	GAG		0.622	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		4	166	0	0	0	0	4	166				
MAP3K8	1326	broad.mit.edu	37	10	30749691	30749691	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:30749691C>G	ENST00000263056.1	+	9	2026	c.1330C>G	c.(1330-1332)Ctc>Gtc	p.L444V	MAP3K8_ENST00000542547.1_Missense_Mutation_p.L444V|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L444V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	444			Missing (in oncogenic form).		cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GCAACGCTCTCTCTACATCGA	0.463																																						uc001ivi.1		NA																	0				breast(3)|central_nervous_system(1)	4						c.(1330-1332)CTC>GTC		mitogen-activated protein kinase kinase kinase							108.0	96.0	100.0					10																	30749691		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30749691C>G	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1330C>G	10.37:g.30749691C>G	ENSP00000263056:p.Leu444Val					MAP3K8_uc009xlf.1_Missense_Mutation_p.L444V|MAP3K8_uc001ivj.1_Missense_Mutation_p.L444V	p.L444V	NM_005204	NP_005195	P41279	M3K8_HUMAN			9	2026	+		Prostate(175;0.151)	444		Missing (in oncogenic form).			A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.1330C>G	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421991	0.62622	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.71698	-0.59;-0.59;-0.59	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.32530	0.975	0.51482	D	0.999928	D	0.63880	0.993	D	0.76071	0.987	T	0.80207	-0.1478	10	0.59425	D	0.04	.	18.887	0.92383	0.0:1.0:0.0:0.0	.	444	P41279	M3K8_HUMAN	V	444	ENSP00000263056:L444V;ENSP00000443610:L444V;ENSP00000364470:L444V	ENSP00000263056:L444V	L	+	1	0	MAP3K8	30789697	0.996000	0.38824	1.000000	0.80357	0.333000	0.28666	3.348000	0.52209	2.464000	0.83262	0.650000	0.86243	CTC		0.463	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		7	180	0	0	0	0	7	180				
ITGB1	3688	broad.mit.edu	37	10	33200866	33200866	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:33200866G>A	ENST00000396033.2	-	12	1791	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	ITGB1_ENST00000423113.1_Silent_p.F552F|ITGB1_ENST00000374956.4_Silent_p.F552F|ITGB1_ENST00000302278.3_Silent_p.F552F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	552	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CACACTCGCAGAATTTGCCAG	0.398																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1654-1656)TTC>TTT		integrin beta 1 isoform 1A precursor							132.0	128.0	130.0					10																	33200866		2203	4300	6503	SO:0001819	synonymous_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200866G>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1656C>T	10.37:g.33200866G>A						ITGB1_uc001iwp.3_Silent_p.F552F|ITGB1_uc001iwq.3_Silent_p.F552F|ITGB1_uc001iwr.3_Silent_p.F552F|ITGB1_uc001iwt.3_Silent_p.F552F|ITGB1_uc001iwu.1_Silent_p.F552F	p.F552F	NM_133376	NP_596867	P05556	ITB1_HUMAN			12	1792	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	552			Extracellular (Potential).|Cysteine-rich tandem repeats.|II.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	c.1656C>T	CCDS7174.1																																																																																				0.398	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		14	262	0	0	0	0	14	262				
POLR3A	11128	broad.mit.edu	37	10	79737257	79737257	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:79737257G>C	ENST00000372371.3	-	31	4289	c.4152C>G	c.(4150-4152)ttC>ttG	p.F1384L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1384					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|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)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGGGGATGTGGAATTCATTTG	0.517																																						uc001jzn.2		NA																	0					0						c.(4150-4152)TTC>TTG		polymerase (RNA) III (DNA directed) polypeptide							171.0	171.0	171.0					10																	79737257		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79737257G>C	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.4152C>G	10.37:g.79737257G>C	ENSP00000361446:p.Phe1384Leu						p.F1384L	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		31	4246	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1384					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.4152C>G	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451766	0.43531	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.74315	-0.83	5.47	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	N	0.11818	0.18	0.51767	D	0.99993	B	0.09022	0.002	B	0.08055	0.003	T	0.40213	-0.9575	9	.	.	.	-27.1496	8.916	0.35581	0.3086:0.0:0.6914:0.0	.	1384	O14802	RPC1_HUMAN	L	1384;1363	ENSP00000361446:F1384L	.	F	-	3	2	POLR3A	79407263	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.827000	0.39102	1.302000	0.44855	0.655000	0.94253	TTC		0.517	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		11	207	0	0	0	0	11	207				
POLR3A	11128	broad.mit.edu	37	10	79737319	79737319	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:79737319G>A	ENST00000372371.3	-	31	4227	c.4090C>T	c.(4090-4092)Cac>Tac	p.H1364Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1364					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|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)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCAGCCTTGTGAAGCAGCTTG	0.512																																						uc001jzn.2		NA																	0					0						c.(4090-4092)CAC>TAC		polymerase (RNA) III (DNA directed) polypeptide							137.0	135.0	136.0					10																	79737319		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79737319G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.4090C>T	10.37:g.79737319G>A	ENSP00000361446:p.His1364Tyr						p.H1364Y	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		31	4184	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1364					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.4090C>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217852	0.39201	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.66099	-0.19	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	N	0.19112	0.55	0.80722	D	1	B	0.17268	0.021	B	0.09377	0.004	T	0.39292	-0.9621	9	.	.	.	-25.568	19.3013	0.94145	0.0:0.0:1.0:0.0	.	1364	O14802	RPC1_HUMAN	Y	1364;1343	ENSP00000361446:H1364Y	.	H	-	1	0	POLR3A	79407325	1.000000	0.71417	0.976000	0.42696	0.672000	0.39443	8.896000	0.92521	2.569000	0.86673	0.655000	0.94253	CAC		0.512	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		9	175	0	0	0	0	9	175				
PNLIP	5406	broad.mit.edu	37	10	118306823	118306823	+	Missense_Mutation	SNP	G	G	A	rs568629341	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:118306823G>A	ENST00000369221.2	+	3	92	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	22					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AGTTTGCTACGAAAGACTCGG	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		18842	0.0		0.0	False		,,,				2504	0.002					uc001lcm.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(64-66)GAA>AAA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						91.0	90.0	90.0					10																	118306823		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306823G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.64G>A	10.37:g.118306823G>A	ENSP00000358223:p.Glu22Lys						p.E22K	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	107	+			22					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.64G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	6.346	0.431989	0.12045	.	.	ENSG00000175535	ENST00000369221	D	0.91180	-2.8	5.12	-8.78	0.00824	Lipase, N-terminal (1);	4.246040	0.00589	N	0.000344	T	0.80193	0.4578	N	0.25789	0.76	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	T	0.67538	-0.5645	10	0.13108	T	0.6	.	7.7827	0.29074	0.0585:0.4747:0.252:0.2147	.	22	P16233	LIPP_HUMAN	K	22	ENSP00000358223:E22K	ENSP00000358223:E22K	E	+	1	0	PNLIP	118296813	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.865000	0.04250	-0.877000	0.04012	-0.226000	0.12346	GAA		0.423	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		6	141	0	0	0	0	6	141				
TACC2	10579	broad.mit.edu	37	10	124001494	124001494	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:124001494G>C	ENST00000369005.1	+	19	8710	c.8370G>C	c.(8368-8370)gaG>gaC	p.E2790D	TACC2_ENST00000369004.3_Missense_Mutation_p.E850D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2790D|TACC2_ENST00000515273.1_Missense_Mutation_p.E2717D|TACC2_ENST00000358010.1_Missense_Mutation_p.E936D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2717D|TACC2_ENST00000260733.3_Missense_Mutation_p.E868D|TACC2_ENST00000513429.1_Missense_Mutation_p.E936D|TACC2_ENST00000369000.1_Missense_Mutation_p.E413D|TACC2_ENST00000369001.1_Missense_Mutation_p.E417D|TACC2_ENST00000360561.3_Missense_Mutation_p.E838D|TACC2_ENST00000368999.1_Missense_Mutation_p.E880D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2668D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2790					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCGAGTATGAGAAGACCATCG	0.522																																						uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(8368-8370)GAG>GAC		transforming, acidic coiled-coil containing							149.0	140.0	143.0					10																	124001494		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124001494G>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8370G>C	10.37:g.124001494G>C	ENSP00000358001:p.Glu2790Asp					TACC2_uc001lfw.2_Missense_Mutation_p.E936D|TACC2_uc009xzx.2_Missense_Mutation_p.E2668D|TACC2_uc010qtv.1_Missense_Mutation_p.E2717D|TACC2_uc001lfx.2_Missense_Mutation_p.E417D|TACC2_uc001lfy.2_Missense_Mutation_p.E413D|TACC2_uc001lfz.2_Missense_Mutation_p.E868D|TACC2_uc001lga.2_Missense_Mutation_p.E838D|TACC2_uc009xzy.2_Missense_Mutation_p.E850D|TACC2_uc001lgb.2_Missense_Mutation_p.E748D	p.E2790D	NM_206862	NP_996744	O95359	TACC2_HUMAN			19	8730	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2790			Potential.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8370G>C	CCDS7626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.145049|4.145049	0.77888|0.77888	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733|ENST00000490979	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.54279|.	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58|.	4.98|4.98	2.12|2.12	0.27331|0.27331	.|.	0.207551|.	0.24350|.	N|.	0.039286|.	T|T	0.65770|0.65770	0.2723|0.2723	M|M	0.78049|0.78049	2.395|2.395	0.44316|0.44316	D|D	0.997194|0.997194	D;D;D;D;D;D;P;D;D|.	0.89917|.	0.998;0.998;1.0;0.999;1.0;0.982;0.916;0.982;1.0|.	D;D;D;D;D;D;P;D;D|.	0.91635|.	0.998;0.996;0.999;0.998;0.999;0.975;0.901;0.966;0.999|.	T|T	0.64241|0.64241	-0.6454|-0.6454	10|5	0.62326|.	D|.	0.03|.	-23.4038|-23.4038	8.3342|8.3342	0.32204|0.32204	0.1414:0.0:0.729:0.1296|0.1414:0.0:0.729:0.1296	.|.	2717;850;2668;2717;838;868;413;936;2790|.	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359|.	.;.;.;.;.;.;.;.;TACC2_HUMAN|.	D|T	2790;936;2717;2668;2790;936;2717;2703;417;413;838;880;850;868|34	ENSP00000358001:E2790D;ENSP00000425062:E936D;ENSP00000424467:E2717D;ENSP00000427618:E2668D;ENSP00000334280:E2790D;ENSP00000350701:E936D;ENSP00000395048:E2717D;ENSP00000357997:E417D;ENSP00000357996:E413D;ENSP00000353763:E838D;ENSP00000357995:E880D;ENSP00000422815:E850D;ENSP00000260733:E868D|.	ENSP00000260733:E868D|.	E|R	+|+	3|2	2|0	TACC2|TACC2	123991484|123991484	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.138000|4.138000	0.58017|0.58017	0.797000|0.797000	0.33971|0.33971	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.522	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			9	184	0	0	0	0	9	184				
CPXM2	119587	broad.mit.edu	37	10	125516751	125516751	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:125516751G>A	ENST00000241305.3	-	12	2049	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	632					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CACGATCAGAGATTCCCGGTT	0.537																																						uc001lhk.1		NA																	0				ovary(2)	2						c.(1894-1896)TCT>TTT		carboxypeptidase X (M14 family), member 2							164.0	131.0	142.0					10																	125516751		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125516751G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1895C>T	10.37:g.125516751G>A	ENSP00000241305:p.Ser632Phe					CPXM2_uc001lhj.2_RNA	p.S632F	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	12	2220	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	632					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1895C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887282	0.91814	.	.	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.03496	3.91	4.72	4.72	0.59763	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	M	0.93375	3.41	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.37337	-0.9710	10	0.87932	D	0	-18.2664	17.8931	0.88878	0.0:0.0:1.0:0.0	.	632	Q8N436	CPXM2_HUMAN	F	128;632;465;607	ENSP00000241305:S632F	ENSP00000241305:S632F	S	-	2	0	CPXM2	125506741	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	9.480000	0.97931	2.437000	0.82529	0.655000	0.94253	TCT		0.537	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	198	0	0	0	0	7	198				
TUBGCP2	10844	broad.mit.edu	37	10	135096618	135096618	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:135096618G>A	ENST00000252936.3	-	14	2292	c.2253C>T	c.(2251-2253)ctC>ctT	p.L751L	TUBGCP2_ENST00000543663.1_Silent_p.L779L|TUBGCP2_ENST00000368562.1_Silent_p.L344L|TUBGCP2_ENST00000417178.2_Silent_p.L621L|TUBGCP2_ENST00000368563.2_Silent_p.L751L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	751					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACACAGACATGAGCTTGGAGA	0.612																																						uc001lmg.1		NA																	0					0						c.(2251-2253)CTC>CTT		tubulin, gamma complex associated protein 2							205.0	146.0	166.0					10																	135096618		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135096618G>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2253C>T	10.37:g.135096618G>A						TUBGCP2_uc001lmf.1_Silent_p.L344L|TUBGCP2_uc010qvc.1_Silent_p.L779L|TUBGCP2_uc009ybk.1_Silent_p.L774L|TUBGCP2_uc010qvd.1_Silent_p.L621L|TUBGCP2_uc001lmh.1_RNA	p.L751L	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	15	2610	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	751					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.2253C>T	CCDS7676.1																																																																																				0.612	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			7	123	0	0	0	0	7	123				
CDHR5	53841	broad.mit.edu	37	11	621851	621851	+	Silent	SNP	G	G	A	rs568991282		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:621851G>A	ENST00000358353.3	-	5	688	c.366C>T	c.(364-366)ccC>ccT	p.P122P	CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000349570.7_Silent_p.P122P|CDHR5_ENST00000397542.2_Silent_p.P122P			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)	p.P122P(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGGGGAATTCGGGGGCATTGT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16940	0.001		0.0	False		,,,				2504	0.0					uc001lqj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)CCC>CCT		mucin and cadherin-like isoform 1							84.0	69.0	74.0					11																	621851		2203	4300	6503	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621851G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.366C>T	11.37:g.621851G>A						CDHR5_uc001lqk.2_Silent_p.P122P|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Silent_p.P122P|CDHR5_uc001lql.2_Silent_p.P122P|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Intron	p.P122P	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			4	471	-			122			Extracellular (Potential).|Cadherin 1.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.366C>T	CCDS7707.1																																																																																				0.637	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		8	98	0	0	0	0	8	98				
MUC6	4588	broad.mit.edu	37	11	1017138	1017138	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1017138G>A	ENST00000421673.2	-	31	5713	c.5663C>T	c.(5662-5664)tCc>tTc	p.S1888F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1888	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGTGGGTGGACCCTGTGGC	0.567																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(5662-5664)TCC>TTC		mucin 6, gastric							573.0	577.0	575.0					11																	1017138		2201	4289	6490	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017138G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5663C>T	11.37:g.1017138G>A	ENSP00000406861:p.Ser1888Phe						p.S1888F	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5714	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1888			Thr-rich.|2.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5663C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189215	0.38707	.	.	ENSG00000184956	ENST00000421673	T	0.20069	2.1	3.05	2.05	0.26809	.	.	.	.	.	T	0.30293	0.0760	L	0.38175	1.15	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.12734	-1.0536	9	0.26408	T	0.33	.	7.4349	0.27150	0.0:0.0:0.74:0.26	.	1888	Q6W4X9	MUC6_HUMAN	F	1888	ENSP00000406861:S1888F	ENSP00000406861:S1888F	S	-	2	0	MUC6	1007138	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	1.886000	0.39688	0.517000	0.28361	0.313000	0.20887	TCC		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		97	622	0	0	0	0	97	622				
MUC5B	727897	broad.mit.edu	37	11	1271273	1271273	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1271273C>T	ENST00000529681.1	+	31	13221	c.13163C>T	c.(13162-13164)aCg>aTg	p.T4388M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4391M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4388	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCGGGGACGACCTGGATC	0.662																																						uc009ycr.1		NA																	0					0						c.(14581-14583)ACG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							83.0	98.0	93.0					11																	1271273		2064	4191	6255	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271273C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13163C>T	11.37:g.1271273C>T	ENSP00000436812:p.Thr4388Met					MUC5B_uc001ltb.2_Missense_Mutation_p.T4391M	p.T4861M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14708	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4388			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14582C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.338	0.062091	0.08339	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19669	2.13;2.31	2.64	1.66	0.24008	.	.	.	.	.	T	0.13415	0.0325	L	0.49126	1.545	0.09310	N	1	P;P	0.42456	0.78;0.78	B;B	0.23419	0.046;0.046	T	0.24225	-1.0166	9	0.87932	D	0	.	5.9635	0.19313	0.0:0.821:0.0:0.179	.	4861;4391	A7Y9J9;E9PBJ0	.;.	M	4388;4391;4332;4238;167	ENSP00000436812:T4388M;ENSP00000415793:T4391M	ENSP00000343037:T4332M	T	+	2	0	MUC5B	1227849	0.001000	0.12720	0.002000	0.10522	0.102000	0.19082	0.673000	0.25203	1.192000	0.43071	0.186000	0.17326	ACG		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	124	0	0	0	0	6	124				
BRSK2	9024	broad.mit.edu	37	11	1467115	1467115	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1467115G>A	ENST00000528841.1	+	12	1588	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	BRSK2_ENST00000382179.1_Missense_Mutation_p.E448K|BRSK2_ENST00000308219.9_Missense_Mutation_p.E402K|BRSK2_ENST00000528710.1_Missense_Mutation_p.E342K|BRSK2_ENST00000526678.1_Missense_Mutation_p.E402K|BRSK2_ENST00000531197.1_Missense_Mutation_p.E402K|BRSK2_ENST00000308230.5_Missense_Mutation_p.E402K|BRSK2_ENST00000544817.1_Missense_Mutation_p.E97K			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	402					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGGGCCATTGAGATGGCCCA	0.716																																						uc001lti.2		NA																	0					0						c.(1204-1206)GAG>AAG		BR serine/threonine kinase 2							25.0	31.0	29.0					11																	1467115		2129	4223	6352	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1467115G>A	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1204G>A	11.37:g.1467115G>A	ENSP00000432000:p.Glu402Lys					BRSK2_uc009ycv.1_Missense_Mutation_p.E402K|BRSK2_uc001lth.1_Missense_Mutation_p.E402K|BRSK2_uc001ltj.2_Missense_Mutation_p.E402K|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.E402K|BRSK2_uc001ltm.2_Missense_Mutation_p.E448K|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	p.E402K	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	12	1590	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	402					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.1204G>A	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321886	0.81580	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	4.71	4.71	0.59529	Protein kinase-like domain (1);	0.061133	0.64402	U	0.000005	T	0.49626	0.1568	L	0.47716	1.5	0.80722	D	1	P;P;B;B;B	0.49559	0.76;0.925;0.384;0.446;0.002	P;P;P;B;B	0.49561	0.615;0.54;0.492;0.211;0.015	T	0.39563	-0.9608	10	0.15499	T	0.54	.	17.6601	0.88191	0.0:0.0:1.0:0.0	.	402;448;402;402;402	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	K	402;402;402;402;402;342;448;97	ENSP00000310697:E402K;ENSP00000431152:E402K;ENSP00000310805:E402K;ENSP00000432000:E402K;ENSP00000433370:E402K;ENSP00000433235:E342K;ENSP00000371614:E448K;ENSP00000445168:E97K	ENSP00000310697:E402K	E	+	1	0	BRSK2	1423691	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	6.344000	0.72991	2.182000	0.69389	0.462000	0.41574	GAG		0.716	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		4	107	0	0	0	0	4	107				
NUP98	4928	broad.mit.edu	37	11	3784171	3784171	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:3784171G>C	ENST00000324932.7	-	9	1467	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	NUP98_ENST00000397007.4_Silent_p.L349L|NUP98_ENST00000359171.4_Silent_p.L349L|NUP98_ENST00000355260.3_Silent_p.L349L|NUP98_ENST00000397004.4_Silent_p.L349L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	349	FG repeats 2.|Gly/Thr-rich.				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)		TCTGCCCAAAGAGACCTGTTC	0.443			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.(1045-1047)CTC>CTG		nucleoporin 98kD isoform 1							146.0	141.0	143.0					11																	3784171		2201	4298	6499	SO:0001819	synonymous_variant	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.chr11:3784171G>C	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.1047C>G	11.37:g.3784171G>C						NUP98_uc001lyi.2_Silent_p.L349L|NUP98_uc001lyj.1_Silent_p.L349L|NUP98_uc001lyk.1_Silent_p.L349L	p.L349L	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)	9	1338	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	349			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.1047C>G	CCDS7746.1																																																																																				0.443	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		6	193	0	0	0	0	6	193				
OR52D1	390066	broad.mit.edu	37	11	5510656	5510656	+	Silent	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:5510656T>C	ENST00000322641.5	+	1	742	c.720T>C	c.(718-720)gcT>gcC	p.A240A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	240					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACAAAGCTCTGAGTACCT	0.512																																						uc010qzg.1		NA																	0				central_nervous_system(1)	1						c.(718-720)GCT>GCC		olfactory receptor, family 52, subfamily D,							208.0	184.0	192.0					11																	5510656		2201	4297	6498	SO:0001819	synonymous_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510656T>C	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.720T>C	11.37:g.5510656T>C						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.A240A	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	720	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	240			Cytoplasmic (Potential).		B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	c.720T>C	CCDS31384.1																																																																																				0.512	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		8	279	0	0	0	0	8	279				
C11orf42	160298	broad.mit.edu	37	11	6231403	6231403	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6231403G>C	ENST00000316375.2	+	2	446	c.396G>C	c.(394-396)aaG>aaC	p.K132N	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	132								p.K132delK(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGCGCAAGAAGGTTGCCT	0.552																																						uc001mcj.2		NA																	1	Deletion - In frame(1)		soft_tissue(1)	ovary(1)	1						c.(394-396)AAG>AAC		hypothetical protein LOC160298							114.0	111.0	112.0					11																	6231403		2201	4296	6497	SO:0001583	missense	160298							g.chr11:6231403G>C	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.396G>C	11.37:g.6231403G>C	ENSP00000321021:p.Lys132Asn						p.K132N	NM_173525	NP_775796	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	444	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	132						Missense_Mutation	SNP	ENST00000316375.2	37	c.396G>C	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590454	0.28357	.	.	ENSG00000180878	ENST00000316375	T	0.55234	0.53	5.35	3.35	0.38373	.	0.000000	0.64402	D	0.000014	T	0.41926	0.1180	N	0.24115	0.695	0.29853	N	0.828252	P	0.44429	0.835	P	0.47645	0.553	T	0.41342	-0.9514	10	0.62326	D	0.03	-7.7781	6.7276	0.23365	0.2123:0.0:0.7877:0.0	.	132	Q8N5U0	CK042_HUMAN	N	132	ENSP00000321021:K132N	ENSP00000321021:K132N	K	+	3	2	C11orf42	6187979	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.285000	0.43487	1.491000	0.48482	0.585000	0.79938	AAG		0.552	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		6	210	0	0	0	0	6	210				
CCKBR	887	broad.mit.edu	37	11	6291978	6291978	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6291978C>T	ENST00000334619.2	+	4	949	c.756C>T	c.(754-756)gaC>gaT	p.D252D	CCKBR_ENST00000532715.1_Silent_p.D168D|CCKBR_ENST00000525462.1_Silent_p.D252D	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	252					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.D252D(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCGCTTTGACGGCGACAGTG	0.602																																						uc001mcp.2		NA																	2	Substitution - coding silent(2)		large_intestine(2)	lung(5)|ovary(2)|breast(1)	8						c.(754-756)GAC>GAT		cholecystokinin B receptor	Pentagastrin(DB00183)						111.0	86.0	94.0					11																	6291978		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291978C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.756C>T	11.37:g.6291978C>T						CCKBR_uc001mcq.2_Silent_p.D180D|CCKBR_uc001mcr.2_Silent_p.D252D|CCKBR_uc001mcs.2_Silent_p.D252D|CCKBR_uc001mct.1_5'Flank	p.D252D	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	949	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	252			Cytoplasmic (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.756C>T	CCDS7761.1																																																																																				0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		61	79	0	0	0	0	61	79				
RRP8	23378	broad.mit.edu	37	11	6621416	6621416	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6621416G>C	ENST00000254605.6	-	7	1448	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	RRP8_ENST00000534343.1_Nonsense_Mutation_p.S128*	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	444					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTGCAGGCCTGAAAGCTGAGC	0.537																																						uc001med.2		NA																	0					0						c.(1330-1332)TCA>TGA		ribosomal RNA processing 8, methyltransferase,							59.0	64.0	62.0					11																	6621416		2201	4296	6497	SO:0001587	stop_gained	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6621416G>C	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.1331C>G	11.37:g.6621416G>C	ENSP00000254605:p.Ser444*						p.S444*	NM_015324	NP_056139	O43159	RRP8_HUMAN			7	1410	-			444					Q7KZ78|Q9BVM6	Nonsense_Mutation	SNP	ENST00000254605.6	37	c.1331C>G	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616186	0.66672	.	.	ENSG00000132275	ENST00000254605;ENST00000534343	.	.	.	5.36	3.43	0.39272	.	0.487586	0.21426	N	0.074729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-13.9749	10.401	0.44229	0.0:0.1438:0.7085:0.1477	.	.	.	.	X	444;128	.	ENSP00000254605:S444X	S	-	2	0	RRP8	6577992	0.780000	0.28664	1.000000	0.80357	0.957000	0.61999	0.167000	0.16602	2.793000	0.96121	0.561000	0.74099	TCA		0.537	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		6	128	0	0	0	0	6	128				
LYVE1	10894	broad.mit.edu	37	11	10585492	10585492	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:10585492G>A	ENST00000256178.3	-	3	550	c.392C>T	c.(391-393)tCa>tTa	p.S131L	MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Intron|LYVE1_ENST00000531706.1_5'UTR|MRVI1-AS1_ENST00000529829.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	131					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CTCACCAGATGAGTTGTAACA	0.507																																						uc001miv.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(391-393)TCA>TTA		lymphatic vessel endothelial hyaluronan receptor							109.0	91.0	97.0					11																	10585492		2201	4294	6495	SO:0001583	missense	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10585492G>A	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.392C>T	11.37:g.10585492G>A	ENSP00000256178:p.Ser131Leu					uc001miu.2_Intron|LYVE1_uc010rca.1_Intron	p.S131L	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	3	678	-			131			Extracellular (Potential).		Q8TC18|Q9UNF4	Missense_Mutation	SNP	ENST00000256178.3	37	c.392C>T	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392001	0.42410	.	.	ENSG00000133800	ENST00000256178	T	0.10573	2.86	5.52	5.52	0.82312	C-type lectin fold (1);Link (1);C-type lectin-like (1);	0.240568	0.37178	N	0.002201	T	0.18964	0.0455	M	0.66939	2.045	0.80722	D	1	B	0.29341	0.242	B	0.33295	0.161	T	0.01334	-1.1382	10	0.66056	D	0.02	-10.2177	18.5667	0.91119	0.0:0.0:1.0:0.0	.	131	Q9Y5Y7	LYVE1_HUMAN	L	131	ENSP00000256178:S131L	ENSP00000256178:S131L	S	-	2	0	LYVE1	10542068	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	5.917000	0.69989	2.756000	0.94617	0.561000	0.74099	TCA		0.507	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		5	83	0	0	0	0	5	83				
CCDC34	91057	broad.mit.edu	37	11	27384412	27384412	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:27384412C>T	ENST00000328697.6	-	1	1003	c.330G>A	c.(328-330)ctG>ctA	p.L110L	CCDC34_ENST00000317945.6_Silent_p.L110L	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	110										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CCATTCCTCTCAGGCTCGCCA	0.562																																						uc001mrh.1		NA																	0					0						c.(328-330)CTG>CTA		coiled-coil domain containing 34 isoform 1							140.0	127.0	132.0					11																	27384412		2202	4299	6501	SO:0001819	synonymous_variant	91057							g.chr11:27384412C>T	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.330G>A	11.37:g.27384412C>T						CCDC34_uc001mri.1_Silent_p.L110L	p.L110L	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			1	384	-			110					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Silent	SNP	ENST00000328697.6	37	c.330G>A	CCDS31448.1																																																																																				0.562	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		9	215	0	0	0	0	9	215				
CREB3L1	90993	broad.mit.edu	37	11	46321584	46321584	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:46321584G>C	ENST00000529193.1	+	2	652	c.201G>C	c.(199-201)aaG>aaC	p.K67N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.K67N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	67					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGGATGAGAAGAGCCCTCTAT	0.577			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	uc001ncf.2		NA		Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				soft_tissue(6)|ovary(2)	8						c.(199-201)AAG>AAC		cAMP responsive element binding protein 3-like							97.0	96.0	97.0					11																	46321584		2084	4230	6314	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46321584G>C		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.201G>C	11.37:g.46321584G>C	ENSP00000434939:p.Lys67Asn						p.K67N	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	2	636	+			67			Cytoplasmic (Potential).		Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.201G>C	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971726	0.92919	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415;ENST00000534787	T;T;T	0.67345	-0.26;-0.26;-0.26	5.56	5.56	0.83823	.	0.065482	0.64402	D	0.000012	T	0.78329	0.4266	M	0.64404	1.975	0.40406	D	0.9797	D	0.69078	0.997	P	0.60789	0.879	T	0.80487	-0.1361	10	0.66056	D	0.02	-21.2633	17.7051	0.88306	0.0:0.0:1.0:0.0	.	67	Q96BA8	CR3L1_HUMAN	N	67;67;67;21	ENSP00000434939:K67N;ENSP00000288400:K67N;ENSP00000431677:K21N	ENSP00000288400:K67N	K	+	3	2	CREB3L1	46278160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.042000	0.70996	2.608000	0.88229	0.655000	0.94253	AAG		0.577	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		17	45	0	0	0	0	17	45				
NUP160	23279	broad.mit.edu	37	11	47810131	47810131	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:47810131C>T	ENST00000378460.2	-	30	3590	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N	NUP160_ENST00000530326.1_Missense_Mutation_p.D1068N	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1182					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|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 pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTCTCCAGATCTTCCAGTTCC	0.413																																						uc001ngm.2		NA																	0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(3544-3546)GAT>AAT		nucleoporin 160kDa							115.0	102.0	106.0					11																	47810131		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47810131C>T	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3544G>A	11.37:g.47810131C>T	ENSP00000367721:p.Asp1182Asn					NUP160_uc009ylw.2_RNA	p.D1182N	NM_015231	NP_056046	Q12769	NU160_HUMAN			30	3629	-			1182					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.3544G>A	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099626	0.94197	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.55930	0.98;0.49	5.64	5.64	0.86602	.	0.054782	0.64402	D	0.000001	T	0.74816	0.3766	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.76919	-0.2781	10	0.72032	D	0.01	.	19.3373	0.94324	0.0:1.0:0.0:0.0	.	1182	Q12769	NU160_HUMAN	N	1182;1068	ENSP00000367721:D1182N;ENSP00000433590:D1068N	ENSP00000367721:D1182N	D	-	1	0	NUP160	47766707	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.507000	0.66999	2.676000	0.91093	0.555000	0.69702	GAT		0.413	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		5	100	0	0	0	0	5	100				
OR4C12	283093	broad.mit.edu	37	11	50003785	50003785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:50003785G>A	ENST00000335238.4	-	1	286	c.253C>T	c.(253-255)Caa>Taa	p.Q85*		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCTTCTCTTGAAAGGAATCC	0.443																																						uc010ria.1		NA																	0				ovary(2)|skin(1)	3						c.(253-255)CAA>TAA		olfactory receptor, family 4, subfamily C,							92.0	94.0	93.0					11																	50003785		2201	4296	6497	SO:0001587	stop_gained	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003785G>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.253C>T	11.37:g.50003785G>A	ENSP00000334418:p.Gln85*						p.Q85*	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	253	-			85			Extracellular (Potential).		B2RNF0|Q6IF49	Nonsense_Mutation	SNP	ENST00000335238.4	37	c.253C>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	12.40	1.928083	0.34002	.	.	ENSG00000221954	ENST00000335238	.	.	.	3.31	1.14	0.20703	.	0.965092	0.08447	U	0.944506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.4353	0.44433	0.0:0.3846:0.6154:0.0	.	.	.	.	X	85	.	ENSP00000334418:Q85X	Q	-	1	0	OR4C12	49960361	0.000000	0.05858	0.003000	0.11579	0.723000	0.41478	-2.437000	0.01018	0.165000	0.19558	0.398000	0.26397	CAA		0.443	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		76	125	0	0	0	0	76	125				
SSSCA1	10534	broad.mit.edu	37	11	65338884	65338884	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:65338884C>G	ENST00000309328.3	+	4	341	c.279C>G	c.(277-279)ctC>ctG	p.L93L	FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000531405.1_Silent_p.L56L|FAM89B_ENST00000449319.2_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron|FAM89B_ENST00000316409.2_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	93					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGGCTGCCCTCTCCCAAGCTC	0.632																																						uc001oek.2		NA																	0				ovary(1)|skin(1)	2						c.(277-279)CTC>CTG		Sjogren syndrome/scleroderma autoantigen 1							43.0	42.0	42.0					11																	65338884		2201	4297	6498	SO:0001819	synonymous_variant	10534				cell division|mitosis		protein binding	g.chr11:65338884C>G	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.279C>G	11.37:g.65338884C>G						FAM89B_uc001oen.2_5'Flank|FAM89B_uc001oem.2_5'Flank|FAM89B_uc001oel.2_5'Flank	p.L93L	NM_006396	NP_006387	O60232	SSA27_HUMAN			4	299	+			93						Silent	SNP	ENST00000309328.3	37	c.279C>G	CCDS8104.1																																																																																				0.632	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		10	158	0	0	0	0	10	158				
EFEMP2	30008	broad.mit.edu	37	11	65638808	65638808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:65638808C>A	ENST00000307998.6	-	4	417	c.187G>T	c.(187-189)Gag>Tag	p.E63*	EFEMP2_ENST00000528176.1_Nonsense_Mutation_p.E63*	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	63	EGF-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGCAGGCCTCAGGGATGGTC	0.647																																						uc001ofy.3		NA																	0				ovary(1)	1						c.(187-189)GAG>TAG		EGF-containing fibulin-like extracellular matrix							96.0	105.0	102.0					11																	65638808		2201	4296	6497	SO:0001587	stop_gained	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65638808C>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.187G>T	11.37:g.65638808C>A	ENSP00000309953:p.Glu63*					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Nonsense_Mutation_p.E63*	p.E63*	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	4	381	-			63			EGF-like 1; atypical.		A8K7R4|B3KM31|B3KQT1|O75967	Nonsense_Mutation	SNP	ENST00000307998.6	37	c.187G>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	C	38	6.654062	0.97739	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	.	.	.	4.93	4.93	0.64822	.	0.000000	0.39909	N	0.001221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.6604	0.77182	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000309953:E63X	E	-	1	0	EFEMP2	65395384	0.999000	0.42202	0.993000	0.49108	0.994000	0.84299	4.307000	0.59123	2.553000	0.86117	0.655000	0.94253	GAG		0.647	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		12	236	1	0	2.27e-07	2.37e-07	12	236				
SYT12	91683	broad.mit.edu	37	11	66811231	66811231	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:66811231C>T	ENST00000393946.2	+	8	1906	c.744C>T	c.(742-744)aaC>aaT	p.N248N	SYT12_ENST00000527043.1_Silent_p.N248N|SYT12_ENST00000525457.1_Silent_p.N248N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	248	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						ATGAGCGCAACGTCAGCACGG	0.547																																					Ovarian(65;2862 3307)	uc009yrl.2		NA																	0				ovary(1)	1						c.(742-744)AAC>AAT		synaptotagmin XII							120.0	100.0	107.0					11																	66811231		2200	4295	6495	SO:0001819	synonymous_variant	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66811231C>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.744C>T	11.37:g.66811231C>T						SYT12_uc001oju.2_Silent_p.N248N	p.N248N	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN			5	974	+			248			C2 1.|Cytoplasmic (Potential).			Silent	SNP	ENST00000393946.2	37	c.744C>T	CCDS8154.1																																																																																				0.547	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		9	165	0	0	0	0	9	165				
POLD4	57804	broad.mit.edu	37	11	67120197	67120197	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:67120197C>T	ENST00000312419.3	-	3	410	c.264G>A	c.(262-264)ctG>ctA	p.L88L	POLD4_ENST00000529704.1_5'UTR|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000539074.1_Intron	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	88					base-excision repair (GO:0006284)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			GGTGGGTCTTCAGCACCTGCC	0.662																																						uc001okm.2		NA																	0					0						c.(262-264)CTG>CTA		DNA-directed DNA polymerase delta 4							26.0	29.0	28.0					11																	67120197		2190	4287	6477	SO:0001819	synonymous_variant	57804				base-excision repair|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	nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:67120197C>T	AF179890	CCDS8158.1, CCDS58149.1	11q13	2012-05-18	2012-05-18		ENSG00000175482	ENSG00000175482		"""DNA polymerases"""	14106	protein-coding gene	gene with protein product	"""DNA polymerase delta smallest subunit p12"""	611525	"""polymerase (DNA-directed), delta 4"""			10751307	Standard	NM_021173		Approved	p12, POLDS	uc001okm.4	Q9HCU8	OTTHUMG00000167135	ENST00000312419.3:c.264G>A	11.37:g.67120197C>T						LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.2_RNA|POLD4_uc001oko.2_RNA|POLD4_uc001okp.1_3'UTR	p.L88L	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.08e-06)		3	411	-			88					F5H506	Silent	SNP	ENST00000312419.3	37	c.264G>A	CCDS8158.1																																																																																				0.662	POLD4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393336.1	NM_021173		10	101	0	0	0	0	10	101				
SLCO2B1	11309	broad.mit.edu	37	11	74914390	74914390	+	Missense_Mutation	SNP	G	G	T	rs200729218		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:74914390G>T	ENST00000289575.5	+	13	2262	c.1867G>T	c.(1867-1869)Gac>Tac	p.D623Y	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D507Y|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D396Y|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D601Y|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D396Y|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D479Y	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	623					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CAGCGCCATCGACACCACCTG	0.632																																						uc001owb.2		NA																	0				ovary(1)|breast(1)	2						c.(1867-1869)GAC>TAC		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						126.0	104.0	112.0					11																	74914390		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74914390G>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1867G>T	11.37:g.74914390G>T	ENSP00000289575:p.Asp623Tyr					SLCO2B1_uc010rrr.1_Missense_Mutation_p.D479Y|SLCO2B1_uc010rrs.1_Missense_Mutation_p.D507Y|SLCO2B1_uc001owc.2_Missense_Mutation_p.D396Y|SLCO2B1_uc001owd.2_Missense_Mutation_p.D601Y	p.D623Y	NM_007256	NP_009187	O94956	SO2B1_HUMAN			13	2254	+			623			Extracellular (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1867G>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545527	0.86022	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);	0.058626	0.64402	D	0.000002	D	0.89581	0.6756	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92156	0.5732	10	0.87932	D	0	.	14.3518	0.66708	0.0:0.0:1.0:0.0	.	479;396;623	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	Y	623;396;507;479;396;601	ENSP00000289575:D623Y;ENSP00000341286:D396Y;ENSP00000434112:D507Y;ENSP00000436324:D479Y;ENSP00000389653:D396Y;ENSP00000388912:D601Y	ENSP00000289575:D623Y	D	+	1	0	SLCO2B1	74592038	1.000000	0.71417	0.962000	0.40283	0.984000	0.73092	7.330000	0.79181	2.444000	0.82710	0.650000	0.86243	GAC		0.632	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		86	141	1	0	7.75e-53	8.24e-53	86	141				
MMP3	4314	broad.mit.edu	37	11	102713291	102713291	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:102713291C>G	ENST00000299855.5	-	3	626	c.370G>C	c.(370-372)Gat>Cat	p.D124H		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	124					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TTTGGCAAATCTGGTGTATAA	0.398																																						uc001phj.1		NA																	0				lung(1)|kidney(1)	2						c.(370-372)GAT>CAT		matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)						102.0	104.0	103.0					11																	102713291		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713291C>G	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.370G>C	11.37:g.102713291C>G	ENSP00000299855:p.Asp124His						p.D124H	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	3	435	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	124				Calcium 1.	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.370G>C	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716179	0.68844	.	.	ENSG00000149968	ENST00000299855	T	0.19806	2.12	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.243095	0.26871	N	0.022061	T	0.38558	0.1045	M	0.69185	2.1	0.80722	D	1	D	0.61697	0.99	P	0.58928	0.848	T	0.06127	-1.0844	10	0.54805	T	0.06	.	11.0431	0.47842	0.0:0.8633:0.0:0.1367	.	124	P08254	MMP3_HUMAN	H	124	ENSP00000299855:D124H	ENSP00000299855:D124H	D	-	1	0	MMP3	102218501	1.000000	0.71417	0.973000	0.42090	0.749000	0.42624	4.952000	0.63618	2.937000	0.99478	0.650000	0.86243	GAT		0.398	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		6	201	0	0	0	0	6	201				
BCO2	83875	broad.mit.edu	37	11	112050030	112050030	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:112050030C>G	ENST00000357685.5	+	2	253	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	BCO2_ENST00000531169.1_Missense_Mutation_p.Q6E|BCO2_ENST00000438022.1_Missense_Mutation_p.Q6E|BCO2_ENST00000361053.4_Missense_Mutation_p.Q40E|BCO2_ENST00000526088.1_Missense_Mutation_p.Q6E|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000525468.1_Intron|AP002884.3_ENST00000532612.1_Missense_Mutation_p.Q11E|BCO2_ENST00000393032.2_Missense_Mutation_p.Q6E			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	40					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AAATACTCCTCAGAAAAAAGC	0.478																																					GBM(177;1916 2099 21049 29541 39946)	uc001pnf.2		NA																	0					0						c.(118-120)CAG>GAG		beta-carotene dioxygenase 2 isoform a							73.0	78.0	76.0					11																	112050030		2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112050030C>G	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.118C>G	11.37:g.112050030C>G	ENSP00000350314:p.Gln40Glu					BCO2_uc001pne.1_Intron|BCO2_uc001png.2_Missense_Mutation_p.Q40E|BCO2_uc001pnh.2_Missense_Mutation_p.Q6E|BCO2_uc010rwt.1_Intron|BCO2_uc009yyn.2_Missense_Mutation_p.Q6E|BCO2_uc001pni.2_Missense_Mutation_p.Q6E	p.Q40E	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN			2	235	+			40					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.118C>G	CCDS8358.2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001493	0.35320	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000531169	D;D;D;D;D;D	0.94758	-3.49;-3.48;-3.51;-3.48;-3.48;-3.48	5.27	3.37	0.38596	.	2.855100	0.00695	N	0.000752	D	0.87609	0.6220	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.06405	0.001;0.001;0.002	T	0.77405	-0.2600	10	0.17832	T	0.49	-15.2573	7.2974	0.26401	0.0:0.738:0.17:0.0919	.	17;40;40	C9JEZ9;E9PBI8;Q9BYV7	.;.;BCDO2_HUMAN	E	40;6;40;6;6;6	ENSP00000350314:Q40E;ENSP00000376752:Q6E;ENSP00000354338:Q40E;ENSP00000414843:Q6E;ENSP00000436615:Q6E;ENSP00000437053:Q6E	ENSP00000350314:Q40E	Q	+	1	0	BCO2	111555240	0.018000	0.18449	0.009000	0.14445	0.309000	0.27889	0.273000	0.18662	0.601000	0.29879	0.467000	0.42956	CAG		0.478	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		48	38	0	0	0	0	48	38				
LRTM2	654429	broad.mit.edu	37	12	1943732	1943732	+	Missense_Mutation	SNP	G	G	A	rs146537358		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:1943732G>A	ENST00000543818.1	+	5	1800	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.V320I|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.V320I	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	320						integral component of membrane (GO:0016021)		p.V320I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CGTGTGCGGCGTCGTCTGCAT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15194	0.001		0.0	False		,,,				2504	0.0					uc001qjt.2		NA																	1	Substitution - Missense(1)	p.V320I(1)	large_intestine(1)	large_intestine(1)	1						c.(958-960)GTC>ATC		leucine-rich repeats and transmembrane domains 2		G	ILE/VAL,ILE/VAL,ILE/VAL,	1,4399		0,1,2199	50.0	46.0	47.0		958,958,958,	-2.6	0.2	12	dbSNP_134	47	2,8584		0,2,4291	yes	missense,missense,missense,intron	CACNA2D4,LRTM2	NM_001039029.2,NM_001163925.1,NM_001163926.1,NM_172364.4	29,29,29,	0,3,6490	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,	320/371,320/371,320/371,	1943732	3,12983	2200	4293	6493	SO:0001583	missense	654429					integral to membrane		g.chr12:1943732G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.958G>A	12.37:g.1943732G>A	ENSP00000446278:p.Val320Ile					CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.V320I|LRTM2_uc010sdx.1_Missense_Mutation_p.V320I|LRTM2_uc001qjv.2_Missense_Mutation_p.V82I	p.V320I	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1764	+	Ovarian(42;0.107)		320			Helical; (Potential).		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.958G>A	CCDS31726.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	G|G	0.016|0.016	-1.525511|-1.525511	0.00959|0.00959	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000166159|ENSG00000166159	ENST00000424079|ENST00000543818;ENST00000299194;ENST00000535041	.|T;T;T	.|0.55052	.|0.54;0.54;0.54	5.44|5.44	-2.59|-2.59	0.06209|0.06209	.|.	.|0.354898	.|0.33346	.|N	.|0.005007	T|T	0.18299|0.18299	0.0439|0.0439	N|N	0.01874|0.01874	-0.695|-0.695	0.19775|0.19775	N|N	0.999959|0.999959	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.33675|0.33675	-0.9859|-0.9859	6|10	0.87932|0.02654	D|T	0|1	.|.	12.2366|12.2366	0.54518|0.54518	0.4957:0.0:0.5043:0.0|0.4957:0.0:0.5043:0.0	.|.	.|320	.|Q8N967	.|LRTM2_HUMAN	H|I	76|320	.|ENSP00000446278:V320I;ENSP00000299194:V320I;ENSP00000444737:V320I	ENSP00000394967:R76H|ENSP00000299194:V320I	R|V	+|+	2|1	0|0	LRTM2|LRTM2	1813993|1813993	0.972000|0.972000	0.33761|0.33761	0.160000|0.160000	0.22671|0.22671	0.030000|0.030000	0.12068|0.12068	1.885000|1.885000	0.39678|0.39678	-0.491000|-0.491000	0.06697|0.06697	-1.063000|-1.063000	0.02288|0.02288	CGT|GTC		0.657	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			18	171	0	0	0	0	18	171				
DYRK4	8798	broad.mit.edu	37	12	4705861	4705861	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:4705861C>T	ENST00000540757.2	+	6	686	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	DYRK4_ENST00000543431.1_Missense_Mutation_p.R176C|DYRK4_ENST00000010132.5_Missense_Mutation_p.R176C	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R578C(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCTACTTTCGCAATCACTT	0.443																																						uc001qmx.2		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(2)|skin(1)	3						c.(526-528)CGC>TGC		dual-specificity tyrosine-(Y)-phosphorylation							177.0	155.0	162.0					12																	4705861		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705861C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.526C>T	12.37:g.4705861C>T	ENSP00000441755:p.Arg176Cys					DYRK4_uc009zeh.1_Missense_Mutation_p.R291C|DYRK4_uc001qmy.1_Missense_Mutation_p.R176C	p.R176C	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		6	686	+			176			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.526C>T	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400752	0.83120	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.47	5.47	0.80525	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	0.49508	0.1561	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.79108	0.992;0.877;0.963	T	0.51228	-0.8732	10	0.87932	D	0	.	18.9413	0.92607	0.0:1.0:0.0:0.0	.	291;176;176	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	C	291;176;176;176	ENSP00000437534:R291C;ENSP00000441755:R176C;ENSP00000010132:R176C;ENSP00000439697:R176C	ENSP00000010132:R176C	R	+	1	0	DYRK4	4576122	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.634000	0.61325	2.570000	0.86706	0.655000	0.94253	CGC		0.443	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			42	124	0	0	0	0	42	124				
FAM90A1	55138	broad.mit.edu	37	12	8375318	8375318	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:8375318G>A	ENST00000538603.1	-	7	1053	c.495C>T	c.(493-495)ctC>ctT	p.L165L	FAM90A1_ENST00000307435.6_Silent_p.L165L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	165							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGCGATCAGAGAGGACAGGGT	0.547																																						uc001qui.2		NA																	0				ovary(1)	1						c.(493-495)CTC>CTT		hypothetical protein LOC55138							24.0	34.0	31.0					12																	8375318		1983	3835	5818	SO:0001819	synonymous_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8375318G>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.495C>T	12.37:g.8375318G>A						FAM90A1_uc001quh.2_Silent_p.L165L	p.L165L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1054	-			165					D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	c.495C>T	CCDS31738.1																																																																																				0.547	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		6	158	0	0	0	0	6	158				
DDN	23109	broad.mit.edu	37	12	49391846	49391846	+	Missense_Mutation	SNP	C	C	G	rs371421443		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:49391846C>G	ENST00000421952.2	-	2	834	c.813G>C	c.(811-813)aaG>aaC	p.K271N	RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	271						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K217K(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GATCCAGCCTCTTCTTTGTGC	0.657																																						uc001rsv.1		NA																	1	Substitution - coding silent(1)	p.K217K(1)	large_intestine(1)	large_intestine(1)	1						c.(811-813)AAG>AAC		dendrin							51.0	58.0	56.0					12																	49391846		2203	4297	6500	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391846C>G	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.813G>C	12.37:g.49391846C>G	ENSP00000390590:p.Lys271Asn					uc001rsw.2_5'Flank	p.K271N	NM_015086	NP_055901	O94850	DEND_HUMAN			2	831	-			271						Missense_Mutation	SNP	ENST00000421952.2	37	c.813G>C	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066177	0.55539	.	.	ENSG00000181418	ENST00000421952	T	0.58358	0.34	3.89	2.06	0.26882	.	0.000000	0.48286	D	0.000198	T	0.52837	0.1759	L	0.27053	0.805	0.36925	D	0.891594	D	0.76494	0.999	D	0.69479	0.964	T	0.56141	-0.8028	10	0.45353	T	0.12	-19.3521	7.8991	0.29723	0.0:0.7968:0.0:0.2032	.	271	O94850	DEND_HUMAN	N	271	ENSP00000390590:K271N	ENSP00000390590:K271N	K	-	3	2	DDN	47678113	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.202000	0.42743	0.621000	0.30232	0.561000	0.74099	AAG		0.657	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			6	270	0	0	0	0	6	270				
PRPH	5630	broad.mit.edu	37	12	49690818	49690818	+	Silent	SNP	G	G	A	rs374136491		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:49690818G>A	ENST00000257860.4	+	4	2348	c.849G>A	c.(847-849)gcG>gcA	p.A283A	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TGCAGGAGGCGGAGGAGTGGT	0.672											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rtu.2		NA																	0					0						c.(847-849)GCG>GCA		peripherin		G		0,4406		0,0,2203	45.0	47.0	47.0		849	-8.2	0.9	12		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRPH	NM_006262.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		283/471	49690818	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5630						structural molecule activity	g.chr12:49690818G>A		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.849G>A	12.37:g.49690818G>A			OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964		p.A283A	NM_006262	NP_006253	P41219	PERI_HUMAN			4	924	+			283			Coil 2.|Rod.		Q5TFH5|Q6DK65	Silent	SNP	ENST00000257860.4	37	c.849G>A	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630461	0.46944	0.0	1.16E-4	ENSG00000135406	ENST00000532332	.	.	.	5.95	-8.21	0.01041	.	.	.	.	.	T	0.43986	0.1272	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50381	-0.8835	4	.	.	.	.	5.8509	0.18691	0.4213:0.4097:0.0848:0.0843	.	.	.	.	R	12	.	.	G	+	1	0	PRPH	47977085	0.000000	0.05858	0.914000	0.36105	0.998000	0.95712	-2.105000	0.01339	-1.067000	0.03160	0.655000	0.94253	GGA		0.672	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		4	103	0	0	0	0	4	103				
AAAS	8086	broad.mit.edu	37	12	53702757	53702757	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53702757G>A	ENST00000209873.4	-	10	1148	c.983C>T	c.(982-984)tCa>tTa	p.S328L	AAAS_ENST00000394384.3_Missense_Mutation_p.S295L|AAAS_ENST00000550286.1_Missense_Mutation_p.S204L|AAAS_ENST00000549983.1_5'Flank	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGCGCCCTGATAGAGTAGG	0.522																																						uc001scr.3		NA																	0				ovary(1)	1						c.(982-984)TCA>TTA		achalasia, adrenocortical insufficiency,							162.0	159.0	160.0					12																	53702757		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53702757G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.983C>T	12.37:g.53702757G>A	ENSP00000209873:p.Ser328Leu					AAAS_uc001scs.3_Missense_Mutation_p.S295L	p.S328L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			10	1146	-			328					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.983C>T	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313598	0.81358	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286	D;D;D	0.95821	-3.82;-3.81;-3.82	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);	0.180460	0.47455	D	0.000228	D	0.92277	0.7550	L	0.43923	1.385	0.31049	N	0.715448	P;P	0.44734	0.842;0.61	B;B	0.40165	0.321;0.204	D	0.92273	0.5827	10	0.56958	D	0.05	-6.049	11.8044	0.52145	0.0:0.0:0.8247:0.1753	.	295;328	Q5JB47;Q9NRG9	.;AAAS_HUMAN	L	328;295;204	ENSP00000209873:S328L;ENSP00000377908:S295L;ENSP00000446885:S204L	ENSP00000209873:S328L	S	-	2	0	AAAS	51989024	0.994000	0.37717	0.383000	0.26132	0.974000	0.67602	2.717000	0.47227	2.639000	0.89480	0.558000	0.71614	TCA		0.522	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			16	439	0	0	0	0	16	439				
AAAS	8086	broad.mit.edu	37	12	53702953	53702953	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53702953G>A	ENST00000209873.4	-	9	1088	c.923C>T	c.(922-924)tCa>tTa	p.S308L	AAAS_ENST00000394384.3_Missense_Mutation_p.S275L|AAAS_ENST00000550286.1_Missense_Mutation_p.S184L|AAAS_ENST00000549983.1_5'Flank	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	308					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AAAGACAGCTGAAGGAGTGGT	0.577																																						uc001scr.3		NA																	0				ovary(1)	1						c.(922-924)TCA>TTA		achalasia, adrenocortical insufficiency,							174.0	165.0	168.0					12																	53702953		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53702953G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.923C>T	12.37:g.53702953G>A	ENSP00000209873:p.Ser308Leu					AAAS_uc001scs.3_Missense_Mutation_p.S275L	p.S308L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			9	1086	-			308			WD 4.		Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.923C>T	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224104	0.79576	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.96168	-3.86;-3.93;-3.86;-0.93	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058253	0.64402	D	0.000001	D	0.93520	0.7932	L	0.31926	0.97	0.58432	D	0.999995	P;P	0.47762	0.675;0.9	B;P	0.46237	0.111;0.508	D	0.93646	0.6969	10	0.49607	T	0.09	-14.5718	16.9908	0.86353	0.0:0.0:1.0:0.0	.	275;308	Q5JB47;Q9NRG9	.;AAAS_HUMAN	L	308;275;184;275	ENSP00000209873:S308L;ENSP00000377908:S275L;ENSP00000446885:S184L;ENSP00000448020:S275L	ENSP00000209873:S308L	S	-	2	0	AAAS	51989220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.926000	0.75835	2.696000	0.92011	0.558000	0.71614	TCA		0.577	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			26	583	0	0	0	0	26	583				
TIMELESS	8914	broad.mit.edu	37	12	56812008	56812008	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:56812008C>G	ENST00000553532.1	-	27	3514	c.3364G>C	c.(3364-3366)Gat>Cat	p.D1122H	TIMELESS_ENST00000229201.4_Missense_Mutation_p.D1121H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.D619H					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCTCCTCATCAGAGCCTTGC	0.582																																						uc001slf.2		NA																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(3364-3366)GAT>CAT		timeless homolog							142.0	150.0	148.0					12																	56812008		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56812008C>G	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3364G>C	12.37:g.56812008C>G	ENSP00000450607:p.Asp1122His						p.D1122H	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			27	3532	-			1122						Missense_Mutation	SNP	ENST00000553532.1	37	c.3364G>C	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487453	0.26686	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.15017	2.46;2.46;2.46	5.26	0.854	0.19007	Timeless C-terminal (1);	1.592650	0.03422	N	0.206435	T	0.11153	0.0272	N	0.08118	0	0.09310	N	1	P	0.37612	0.602	B	0.41619	0.361	T	0.17471	-1.0368	10	0.46703	T	0.11	8.1871	3.8755	0.09054	0.1682:0.3345:0.0:0.4972	.	1122	Q9UNS1	TIM_HUMAN	H	1121;1122;619	ENSP00000229201:D1121H;ENSP00000450607:D1122H;ENSP00000450848:D619H	ENSP00000229201:D1122H	D	-	1	0	TIMELESS	55098275	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.120000	0.10660	0.181000	0.19994	-0.857000	0.03018	GAT		0.582	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		23	846	0	0	0	0	23	846				
GPR182	11318	broad.mit.edu	37	12	57389816	57389816	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:57389816C>A	ENST00000300098.1	+	2	1042	c.823C>A	c.(823-825)Cat>Aat	p.H275N	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	275					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCTGCCCTATCATGTGACCCT	0.607																																						uc001smk.2		NA																	0				lung(1)	1						c.(823-825)CAT>AAT		G protein-coupled receptor 182							206.0	177.0	187.0					12																	57389816		2203	4300	6503	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389816C>A	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.823C>A	12.37:g.57389816C>A	ENSP00000300098:p.His275Asn					RDH16_uc010sqx.1_Intron	p.H275N	NM_007264	NP_009195	O15218	GP182_HUMAN			2	917	+			275			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000300098.1	37	c.823C>A	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165681	0.78339	.	.	ENSG00000166856	ENST00000300098	T	0.38077	1.16	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.057929	0.64402	D	0.000002	T	0.45175	0.1329	L	0.46157	1.445	0.51233	D	0.999911	D	0.63880	0.993	D	0.63113	0.911	T	0.22695	-1.0209	10	0.07175	T	0.84	.	14.6465	0.68764	0.0:1.0:0.0:0.0	.	275	O15218	GP182_HUMAN	N	275	ENSP00000300098:H275N	ENSP00000300098:H275N	H	+	1	0	GPR182	55676083	1.000000	0.71417	0.941000	0.38009	0.967000	0.64934	7.545000	0.82128	2.382000	0.81193	0.561000	0.74099	CAT		0.607	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		11	519	1	0	0.00010058	0.000103112	11	519				
PPM1H	57460	broad.mit.edu	37	12	63225906	63225906	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:63225906C>T	ENST00000228705.6	-	2	699	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	133							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AGTTCTCCTTCAGCTGCAGCC	0.532																																						uc001srk.3		NA																	0				lung(3)|ovary(1)	4						c.(397-399)CTG>CTA		protein phosphatase 1H (PP2C domain containing)							96.0	91.0	93.0					12																	63225906		1948	4153	6101	SO:0001819	synonymous_variant	57460						phosphoprotein phosphatase activity	g.chr12:63225906C>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.399G>A	12.37:g.63225906C>T							p.L133L	NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	2	548	-			133					B1Q2A9|B2RXG4|Q6PI86	Silent	SNP	ENST00000228705.6	37	c.399G>A	CCDS44934.1																																																																																				0.532	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		39	44	0	0	0	0	39	44				
KCNMB4	27345	broad.mit.edu	37	12	70824287	70824287	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:70824287C>T	ENST00000258111.4	+	3	946	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	163					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GCTTCTGCATCGCACTCATGA	0.483																																						uc001svx.2		NA																	0					0						c.(487-489)CGC>TGC		calcium-activated potassium channel beta 4							202.0	187.0	192.0					12																	70824287		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70824287C>T	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.487C>T	12.37:g.70824287C>T	ENSP00000258111:p.Arg163Cys					uc001svy.1_5'Flank	p.R163C	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		3	940	+	Renal(347;0.236)		163			Extracellular (Potential).		Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.487C>T	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488300	0.84854	.	.	ENSG00000135643	ENST00000258111	T	0.16196	2.36	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07908	-1.0748	10	0.87932	D	0	-23.5357	14.9452	0.71026	0.1429:0.8571:0.0:0.0	.	163	Q86W47	KCMB4_HUMAN	C	163	ENSP00000258111:R163C	ENSP00000258111:R163C	R	+	1	0	KCNMB4	69110554	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.633000	0.54295	2.768000	0.95171	0.655000	0.94253	CGC		0.483	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		15	429	0	0	0	0	15	429				
PWP1	11137	broad.mit.edu	37	12	108082473	108082473	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:108082473C>T	ENST00000412830.3	+	3	381	c.213C>T	c.(211-213)cgC>cgT	p.R71R	PWP1_ENST00000541166.1_Silent_p.R9R	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	71					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CCCAGGCACGCCCAAGAGAGC	0.522																																						uc001tmo.1		NA																	0					0						c.(211-213)CGC>CGT		periodic tryptophan protein 1							127.0	120.0	122.0					12																	108082473		2203	4300	6503	SO:0001819	synonymous_variant	11137				transcription, DNA-dependent	nucleus		g.chr12:108082473C>T	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.213C>T	12.37:g.108082473C>T						PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Silent_p.R71R	p.R71R	NM_007062	NP_008993	Q13610	PWP1_HUMAN			3	300	+			71					A8K3R6|Q7Z3X9	Silent	SNP	ENST00000412830.3	37	c.213C>T	CCDS9114.1																																																																																				0.522	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		39	100	0	0	0	0	39	100				
SART3	9733	broad.mit.edu	37	12	108939002	108939002	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:108939002G>C	ENST00000228284.3	-	4	876	c.642C>G	c.(640-642)ctC>ctG	p.L214L	SART3_ENST00000431469.2_Silent_p.L214L|SART3_ENST00000552221.1_5'Flank	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	214					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CAACAGACGAGAGAGCCCTTT	0.507									Porokeratosis																													uc001tmz.1		NA																	0				pancreas(1)	1						c.(640-642)CTC>CTG		squamous cell carcinoma antigen recognized by T							151.0	134.0	140.0					12																	108939002		2203	4300	6503	SO:0001819	synonymous_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108939002G>C	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.642C>G	12.37:g.108939002G>C						SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Silent_p.L214L|SART3_uc010swy.1_Silent_p.L82L|SART3_uc010swz.1_Silent_p.L214L|SART3_uc001tna.1_RNA	p.L214L	NM_014706	NP_055521	Q15020	SART3_HUMAN			4	877	-			214			HAT 3.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	ENST00000228284.3	37	c.642C>G	CCDS9117.1																																																																																				0.507	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			145	120	0	0	0	0	145	120				
ACACB	32	broad.mit.edu	37	12	109647006	109647006	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:109647006C>T	ENST00000338432.7	+	21	3216	c.3097C>T	c.(3097-3099)Cgg>Tgg	p.R1033W	ACACB_ENST00000377854.5_Missense_Mutation_p.R1033W|ACACB_ENST00000377848.3_Missense_Mutation_p.R1033W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1033					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GATGACCCTCCGGCACCCGTC	0.662																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3097-3099)CGG>TGG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)																																			SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109647006C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3097C>T	12.37:g.109647006C>T	ENSP00000341044:p.Arg1033Trp					ACACB_uc001toc.2_Missense_Mutation_p.R1033W	p.R1033W	NM_001093	NP_001084	O00763	ACACB_HUMAN			21	3216	+			1033					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3097C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325995	0.81580	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.50813	0.73;0.73;0.73	5.5	5.5	0.81552	Acetyl-CoA carboxylase, central domain (1);	0.056446	0.64402	D	0.000001	T	0.75243	0.3823	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.80125	-0.1513	10	0.87932	D	0	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	1033	O00763	ACACB_HUMAN	W	1033;1033;1033;264	ENSP00000341044:R1033W;ENSP00000367079:R1033W;ENSP00000367085:R1033W	ENSP00000341044:R1033W	R	+	1	2	ACACB	108131389	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	4.052000	0.57420	2.584000	0.87258	0.563000	0.77884	CGG		0.662	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		8	24	0	0	0	0	8	24				
GCN1L1	10985	broad.mit.edu	37	12	120594339	120594339	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:120594339C>G	ENST00000300648.6	-	28	3250	c.3238G>C	c.(3238-3240)Gag>Cag	p.E1080Q	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1080					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCCTGCTCTGCAAAGGCA	0.597																																						uc001txo.2		NA																	0				ovary(4)	4						c.(3238-3240)GAG>CAG		GCN1 general control of amino-acid synthesis							52.0	58.0	56.0					12																	120594339		2183	4279	6462	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120594339C>G	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3238G>C	12.37:g.120594339C>G	ENSP00000300648:p.Glu1080Gln						p.E1080Q	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			28	3251	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1080			HEAT 4.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.3238G>C	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468271	0.63625	.	.	ENSG00000089154	ENST00000300648	T	0.37584	1.19	5.79	4.91	0.64330	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.50333	1.59	0.80722	D	1	B	0.31837	0.342	B	0.28709	0.093	T	0.06250	-1.0837	10	0.18276	T	0.48	.	14.8383	0.70201	0.0:0.9313:0.0:0.0687	.	1080	Q92616	GCN1L_HUMAN	Q	1080	ENSP00000300648:E1080Q	ENSP00000300648:E1080Q	E	-	1	0	GCN1L1	119078722	1.000000	0.71417	0.959000	0.39883	0.861000	0.49209	7.229000	0.78088	1.444000	0.47605	0.655000	0.94253	GAG		0.597	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			3	87	0	0	0	0	3	87				
PXN	5829	broad.mit.edu	37	12	120652792	120652792	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:120652792C>T	ENST00000228307.7	-	9	1255	c.1114G>A	c.(1114-1116)Gcc>Acc	p.A372T	PXN_ENST00000267257.7_Missense_Mutation_p.A386T|PXN_ENST00000424649.2_Missense_Mutation_p.A338T|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000458477.2_Missense_Mutation_p.A205T|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000536957.1_Missense_Mutation_p.A370T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000397506.3_Missense_Mutation_p.A184T	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	372	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCCATGGCGGTCACAACC	0.662																																						uc001txt.2		NA																	0				ovary(1)|breast(1)	2						c.(1114-1116)GCC>ACC		paxillin isoform 1							56.0	63.0	61.0					12																	120652792		2106	4204	6310	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120652792C>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1114G>A	12.37:g.120652792C>T	ENSP00000228307:p.Ala372Thr					PXN_uc001txu.2_Missense_Mutation_p.A184T|PXN_uc001txv.2_Missense_Mutation_p.A253T|PXN_uc001txx.2_Missense_Mutation_p.A205T|PXN_uc001txy.2_Missense_Mutation_p.A338T|PXN_uc001txz.2_RNA	p.A372T	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			9	1245	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		372			LIM zinc-binding 1.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.1114G>A	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363974	0.95877	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000541856	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.06	5.06	0.68205	Zinc finger, LIM-type (5);	.	.	.	.	D	0.95893	0.8663	M	0.92880	3.355	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;0.997;1.0	D;P;P;D	0.76575	0.953;0.719;0.864;0.988	D	0.96937	0.9685	9	0.87932	D	0	.	18.4266	0.90611	0.0:1.0:0.0:0.0	.	338;386;184;372	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	T	205;372;338;370;386;184;97	ENSP00000395536:A205T;ENSP00000228307:A372T;ENSP00000391283:A338T;ENSP00000443887:A370T;ENSP00000267257:A386T;ENSP00000380643:A184T	ENSP00000228307:A372T	A	-	1	0	PXN	119137175	1.000000	0.71417	0.940000	0.37924	0.885000	0.51271	7.755000	0.85180	2.354000	0.79902	0.551000	0.68910	GCC		0.662	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		19	12	0	0	0	0	19	12				
WDR66	144406	broad.mit.edu	37	12	122359293	122359293	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:122359293C>G	ENST00000288912.4	+	2	936	c.82C>G	c.(82-84)Cca>Gca	p.P28A	WDR66_ENST00000397454.2_Missense_Mutation_p.P28A|RP11-87C12.2_ENST00000546333.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	28	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAACCTAATCCAAATTATAA	0.443																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(82-84)CCA>GCA		WD repeat domain 66							73.0	73.0	73.0					12																	122359293		1862	4102	5964	SO:0001583	missense	144406						calcium ion binding	g.chr12:122359293C>G	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.82C>G	12.37:g.122359293C>G	ENSP00000288912:p.Pro28Ala						p.P28A	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	2	224	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		28			Glu-rich.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.82C>G	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	1.518	-0.547716	0.04024	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.04502	3.62;3.61	2.3	-4.59	0.03400	.	10.570500	0.00166	N	0.000005	T	0.03053	0.0090	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38499	-0.9658	10	0.25751	T	0.34	.	0.1996	0.00143	0.3041:0.193:0.1508:0.3521	.	28	Q8TBY9	WDR66_HUMAN	A	28	ENSP00000288912:P28A;ENSP00000380595:P28A	ENSP00000288912:P28A	P	+	1	0	WDR66	120843676	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.395000	0.02516	-1.615000	0.01573	0.467000	0.42956	CCA		0.443	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		3	78	0	0	0	0	3	78				
LRRC43	254050	broad.mit.edu	37	12	122677376	122677376	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:122677376G>A	ENST00000339777.4	+	7	1202	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	LRRC43_ENST00000425921.1_Missense_Mutation_p.E207K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	392	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AGACATTGTTGAAGAGGTTAC	0.517																																						uc009zxm.2		NA																	0					0						c.(1174-1176)GAA>AAA		leucine rich repeat containing 43 isoform 1							110.0	111.0	111.0					12																	122677376		2050	4225	6275	SO:0001583	missense	254050							g.chr12:122677376G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1174G>A	12.37:g.122677376G>A	ENSP00000344233:p.Glu392Lys					LRRC43_uc001ubw.3_Missense_Mutation_p.E207K|LRRC43_uc009zxn.2_Missense_Mutation_p.E153K	p.E392K	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	7	1199	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		392			Glu-rich.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1174G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.218337	0.01542	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.55588	0.51;0.92	0.913	-0.377	0.12501	.	1.503550	0.03989	N	0.294525	T	0.28333	0.0700	N	0.20685	0.6	0.09310	N	1	P	0.35481	0.504	B	0.29598	0.104	T	0.08743	-1.0707	10	0.06365	T	0.9	-3.0084	3.7036	0.08391	0.0:0.0:0.5389:0.4611	.	392	Q8N309	LRC43_HUMAN	K	392;263;207	ENSP00000344233:E392K;ENSP00000416628:E207K	ENSP00000289014:E263K	E	+	1	0	LRRC43	121243329	0.005000	0.15991	0.001000	0.08648	0.004000	0.04260	0.604000	0.24164	-0.129000	0.11620	0.313000	0.20887	GAA		0.517	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		7	192	0	0	0	0	7	192				
XPO4	64328	broad.mit.edu	37	13	21429888	21429888	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:21429888G>A	ENST00000255305.6	-	4	405	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Missense_Mutation_p.R112W			Q9C0E2	XPO4_HUMAN	exportin 4	112					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R85W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATCTGTTCCCGAACATACTTT	0.328																																						uc001unq.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(334-336)CGG>TGG		exportin 4							116.0	108.0	110.0					13																	21429888		1801	4071	5872	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21429888G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.334C>T	13.37:g.21429888G>A	ENSP00000255305:p.Arg112Trp					XPO4_uc010tcr.1_Missense_Mutation_p.R38W	p.R112W	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	4	370	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	112					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.334C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253403	0.95336	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.74526	-0.85;-0.85	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84916	0.0851	10	0.62326	D	0.03	-12.1368	20.8794	0.99867	0.0:0.0:1.0:0.0	.	112	Q9C0E2	XPO4_HUMAN	W	112	ENSP00000383444:R112W;ENSP00000255305:R112W	ENSP00000255305:R112W	R	-	1	2	XPO4	20327888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.828000	0.69307	2.941000	0.99782	0.655000	0.94253	CGG		0.328	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		9	206	0	0	0	0	9	206				
SACS	26278	broad.mit.edu	37	13	23906424	23906424	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:23906424G>C	ENST00000382292.3	-	9	11864	c.11591C>G	c.(11590-11592)tCt>tGt	p.S3864C	SACS_ENST00000402364.1_Missense_Mutation_p.S3114C|SACS_ENST00000382298.3_Missense_Mutation_p.S3864C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3864					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGCCCTCAGAATTTTTAAA	0.373																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11590-11592)TCT>TGT		sacsin							105.0	108.0	107.0					13																	23906424		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906424G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11591C>G	13.37:g.23906424G>C	ENSP00000371729:p.Ser3864Cys					SACS_uc001uoo.2_Missense_Mutation_p.S3717C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S3864C	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12180	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3864					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11591C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945838	0.53079	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.13;-2.27;-2.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90755	0.7098	L	0.36672	1.1	0.52501	D	0.999953	D	0.89917	1.0	D	0.83275	0.996	D	0.88293	0.2944	10	0.30854	T	0.27	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	3864	Q9NZJ4	SACS_HUMAN	C	3864;3114;3864	ENSP00000371729:S3864C;ENSP00000385844:S3114C;ENSP00000371735:S3864C	ENSP00000371729:S3864C	S	-	2	0	SACS	22804424	1.000000	0.71417	0.502000	0.27614	0.193000	0.23685	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	TCT		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		13	231	0	0	0	0	13	231				
ENOX1	55068	broad.mit.edu	37	13	43930093	43930093	+	Missense_Mutation	SNP	G	G	A	rs200537425		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:43930093G>A	ENST00000261488.6	-	8	1362	c.785C>T	c.(784-786)tCg>tTg	p.S262L	ENOX1_ENST00000412891.1_Missense_Mutation_p.S262L|ENOX1_ENST00000540032.1_Missense_Mutation_p.S75L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	262					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTCGTGCTCCGAGTAGTGCAT	0.637													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17014	0.0		0.0	False		,,,				2504	0.0					uc001uza.3		NA																	0				pancreas(1)|skin(1)	2						c.(784-786)TCG>TTG		ecto-NOX disulfide-thiol exchanger 1							104.0	117.0	113.0					13																	43930093		2197	4294	6491	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43930093G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.785C>T	13.37:g.43930093G>A	ENSP00000261488:p.Ser262Leu					ENOX1_uc001uzb.3_Missense_Mutation_p.S262L|ENOX1_uc001uzc.3_Missense_Mutation_p.S262L|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.S75L	p.S262L	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	8	1085	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	262					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.785C>T	CCDS9389.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.457287	0.96223	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.53857	0.6;0.6	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.968	T	0.75334	-0.3354	10	0.87932	D	0	-0.1241	19.9025	0.96993	0.0:0.0:1.0:0.0	.	75;262	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	L	262;262;75	ENSP00000261488:S262L;ENSP00000415054:S262L	ENSP00000261488:S262L	S	-	2	0	ENOX1	42828093	1.000000	0.71417	0.973000	0.42090	0.952000	0.60782	9.461000	0.97646	2.722000	0.93159	0.655000	0.94253	TCG		0.637	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		14	207	0	0	0	0	14	207				
RCBTB1	55213	broad.mit.edu	37	13	50125565	50125565	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:50125565C>T	ENST00000378302.2	-	8	1011	c.751G>A	c.(751-753)Gag>Aag	p.E251K	RCBTB1_ENST00000258646.3_Missense_Mutation_p.E251K|RCBTB1_ENST00000546015.1_Missense_Mutation_p.E251K	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	251					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCAAGCCCTCATCTGTTAGT	0.473																																						uc001vde.1		NA																	0				ovary(1)	1						c.(751-753)GAG>AAG		regulator of chromosome condensation (RCC1) and							151.0	129.0	137.0					13																	50125565		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50125565C>T	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.751G>A	13.37:g.50125565C>T	ENSP00000367552:p.Glu251Lys						p.E251K	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	8	1012	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	251					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.751G>A	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956642	0.53293	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.85702	-2.02;-2.02;-2.02	5.39	4.54	0.55810	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.047339	0.85682	D	0.000000	T	0.81221	0.4777	L	0.43554	1.36	0.58432	D	0.999997	B	0.23540	0.087	B	0.36766	0.232	T	0.73639	-0.3919	10	0.20046	T	0.44	-16.1375	9.9772	0.41791	0.0:0.7894:0.1378:0.0728	.	251	Q8NDN9	RCBT1_HUMAN	K	251	ENSP00000258646:E251K;ENSP00000367552:E251K;ENSP00000443293:E251K	ENSP00000258646:E251K	E	-	1	0	RCBTB1	49023566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	1.408000	0.46895	0.655000	0.94253	GAG		0.473	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		4	115	0	0	0	0	4	115				
FAM155A	728215	broad.mit.edu	37	13	108518355	108518355	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:108518355C>T	ENST00000375915.2	-	1	728	c.590G>A	c.(589-591)cGg>cAg	p.R197Q		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	197						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCGCCCCCCGACTCCAGTT	0.632																																						uc001vql.2		NA																	0				skin(1)	1						c.(589-591)CGG>CAG		family with sequence similarity 155, member A							48.0	59.0	55.0					13																	108518355		2202	4300	6502	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518355C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.590G>A	13.37:g.108518355C>T	ENSP00000365080:p.Arg197Gln						p.R197Q	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1106	-			197					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.590G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	5.851	0.341144	0.11069	.	.	ENSG00000204442	ENST00000375915	T	0.10288	2.89	5.89	1.8	0.24995	.	0.737753	0.12883	N	0.431261	T	0.05823	0.0152	N	0.08118	0	0.25302	N	0.989271	B	0.13145	0.007	B	0.08055	0.003	T	0.37079	-0.9721	10	0.39692	T	0.17	.	10.0658	0.42303	0.0:0.6232:0.0:0.3768	.	197	B1AL88	F155A_HUMAN	Q	197	ENSP00000365080:R197Q	ENSP00000365080:R197Q	R	-	2	0	FAM155A	107316356	0.982000	0.34865	0.998000	0.56505	0.004000	0.04260	0.188000	0.17018	0.414000	0.25790	-1.036000	0.02392	CGG		0.632	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		29	217	0	0	0	0	29	217				
CPNE6	9362	broad.mit.edu	37	14	24545039	24545039	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:24545039G>C	ENST00000397016.2	+	11	1179	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	CPNE6_ENST00000537691.1_Missense_Mutation_p.E345Q|CPNE6_ENST00000216775.2_Missense_Mutation_p.E290Q	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	290					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCAGGTGGAGAAGGTGCA	0.602																																						uc001wll.2		NA																	0				skin(2)|ovary(1)	3						c.(868-870)GAG>CAG		copine 6							69.0	63.0	65.0					14																	24545039		2203	4300	6503	SO:0001583	missense	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24545039G>C	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.868G>C	14.37:g.24545039G>C	ENSP00000380211:p.Glu290Gln					CPNE6_uc010tnv.1_Missense_Mutation_p.E345Q|CPNE6_uc001wlm.2_Missense_Mutation_p.E115Q|CPNE6_uc001wln.2_5'UTR	p.E290Q	NM_006032	NP_006023	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	967	+			290					B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.868G>C	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426941	0.43122	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.07908	3.15;3.17;3.17	5.02	5.02	0.67125	.	0.000000	0.49916	D	0.000129	T	0.08358	0.0208	L	0.39085	1.19	0.31971	N	0.607091	P;B	0.42908	0.793;0.3	B;B	0.41271	0.352;0.191	T	0.06954	-1.0798	10	0.32370	T	0.25	-41.1487	11.5515	0.50723	0.0:0.1801:0.8199:0.0	.	345;290	F5GXN1;O95741	.;CPNE6_HUMAN	Q	345;290;290	ENSP00000440077:E345Q;ENSP00000380211:E290Q;ENSP00000216775:E290Q	ENSP00000216775:E290Q	E	+	1	0	CPNE6	23614879	0.516000	0.26218	1.000000	0.80357	0.828000	0.46876	0.423000	0.21313	2.620000	0.88729	0.563000	0.77884	GAG		0.602	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			3	100	0	0	0	0	3	100				
L3HYPDH	112849	broad.mit.edu	37	14	59939793	59939793	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:59939793C>G	ENST00000247194.4	-	5	1068	c.955G>C	c.(955-957)Gat>Cat	p.D319H	L3HYPDH_ENST00000543619.1_5'UTR	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	319					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	GCTTTAAAATCACCACATTTC	0.373																																						uc001xee.1		NA																	0				ovary(1)	1						c.(955-957)GAT>CAT		proline racemase-like	L-Proline(DB00172)						159.0	150.0	153.0					14																	59939793		2203	4300	6503	SO:0001583	missense	112849						proline racemase activity	g.chr14:59939793C>G	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.955G>C	14.37:g.59939793C>G	ENSP00000247194:p.Asp319His						p.D319H	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.14)	5	994	-			319					Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.955G>C	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	c	17.36	3.370977	0.61624	.	.	ENSG00000126790	ENST00000247194	T	0.20463	2.07	4.99	4.99	0.66335	.	0.141538	0.64402	D	0.000007	T	0.33177	0.0854	M	0.67953	2.075	0.80722	D	1	P	0.49253	0.921	P	0.51355	0.667	T	0.04635	-1.0937	10	0.51188	T	0.08	.	11.4181	0.49965	0.0:0.9162:0.0:0.0838	.	319	Q96EM0	PRCM_HUMAN	H	319	ENSP00000247194:D319H	ENSP00000247194:D319H	D	-	1	0	C14orf149	59009546	0.990000	0.36364	0.998000	0.56505	0.723000	0.41478	2.804000	0.47931	2.285000	0.76669	0.651000	0.88453	GAT		0.373	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		5	162	0	0	0	0	5	162				
SYT16	83851	broad.mit.edu	37	14	62547795	62547795	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:62547795G>A	ENST00000430451.2	+	4	1434	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	413	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GCCCAACCCCGTCTTCAGGGA	0.582																																						uc001xfu.1		NA																	0				central_nervous_system(1)	1						c.(1237-1239)GTC>ATC		synaptotagmin XIV-like							39.0	43.0	41.0					14																	62547795		2150	4262	6412	SO:0001583	missense	83851							g.chr14:62547795G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1237G>A	14.37:g.62547795G>A	ENSP00000394700:p.Val413Ile					SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	p.V413I	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1434	+			413			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1237G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558571	0.27827	.	.	ENSG00000139973	ENST00000430451	T	0.71698	-0.59	5.27	-1.55	0.08558	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.513822	0.21864	N	0.068000	T	0.60637	0.2284	L	0.56124	1.755	0.42947	D	0.994361	B	0.15930	0.015	B	0.13407	0.009	T	0.51411	-0.8709	10	0.25751	T	0.34	-30.5872	12.5233	0.56072	0.4687:0.0:0.5313:0.0	.	413	Q17RD7	SYT16_HUMAN	I	413	ENSP00000394700:V413I	ENSP00000394700:V413I	V	+	1	0	SYT16	61617548	0.000000	0.05858	0.128000	0.21923	0.947000	0.59692	-1.244000	0.02902	-0.181000	0.10619	-0.119000	0.15052	GTC		0.582	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		22	28	0	0	0	0	22	28				
CALM1	801	broad.mit.edu	37	14	90870274	90870274	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:90870274G>A	ENST00000356978.4	+	4	495	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	CALM1_ENST00000447653.3_Missense_Mutation_p.E84K|CALM1_ENST00000544280.2_Missense_Mutation_p.E47K|CALM1_ENST00000553542.1_Missense_Mutation_p.E47K|RP11-471B22.2_ENST00000555853.1_RNA	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	83	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TACAGATAGTGAAGAAGAAAT	0.383																																						uc001xyl.1		NA																	0				central_nervous_system(1)	1						c.(247-249)GAA>AAA		calmodulin 1 isoform 1	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						104.0	95.0	98.0					14																	90870274		2203	4300	6503	SO:0001583	missense	801				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr14:90870274G>A		CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.247G>A	14.37:g.90870274G>A	ENSP00000349467:p.Glu83Lys					CALM1_uc010atq.1_Missense_Mutation_p.E84K|CALM1_uc010atr.1_Intron|CALM1_uc001xym.1_Missense_Mutation_p.E47K	p.E83K	NM_006888	NP_008819	P62158	CALM_HUMAN		COAD - Colon adenocarcinoma(157;0.208)	4	449	+		all_cancers(154;0.13)	83			EF-hand 3.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000356978.4	37	c.247G>A	CCDS9892.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774475	0.70107	.	.	ENSG00000198668	ENST00000557020;ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	.	.	.	0.80722	D	1	B;P	0.34699	0.442;0.464	B;B	0.25291	0.046;0.059	T	0.80509	-0.1351	9	0.87932	D	0	.	19.1394	0.93441	0.0:0.0:1.0:0.0	.	84;83	E7ETZ0;P62158	.;CALM_HUMAN	K	47;83;84;47;47	ENSP00000451062:E47K;ENSP00000349467:E83K;ENSP00000403491:E84K;ENSP00000450829:E47K;ENSP00000442853:E47K	ENSP00000349467:E83K	E	+	1	0	CALM1	89940027	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.736000	0.98828	2.583000	0.87209	0.555000	0.69702	GAA		0.383	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1			33	21	0	0	0	0	33	21				
DYNC1H1	1778	broad.mit.edu	37	14	102452268	102452268	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:102452268G>A	ENST00000360184.4	+	8	1870	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	569	Interaction with DYNC1I2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCTCGCCTTCGGGATCAGCTT	0.547																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(1705-1707)CGG>CAG		cytoplasmic dynein 1 heavy chain 1							77.0	73.0	74.0					14																	102452268		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102452268G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1706G>A	14.37:g.102452268G>A	ENSP00000348965:p.Arg569Gln						p.R569Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			8	1870	+			569			Interaction with DYNC1I2 (By similarity).|Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.1706G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481786	0.96307	.	.	ENSG00000197102	ENST00000360184	T	0.56941	0.43	5.85	5.85	0.93711	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.79191	0.4404	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.77474	-0.2574	10	0.14252	T	0.57	.	20.155	0.98106	0.0:0.0:1.0:0.0	.	569	Q14204	DYHC1_HUMAN	Q	569	ENSP00000348965:R569Q	ENSP00000348965:R569Q	R	+	2	0	DYNC1H1	101522021	1.000000	0.71417	0.089000	0.20774	0.976000	0.68499	9.471000	0.97696	2.760000	0.94817	0.655000	0.94253	CGG		0.547	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		38	27	0	0	0	0	38	27				
FAN1	22909	broad.mit.edu	37	15	31218129	31218129	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:31218129C>T	ENST00000362065.4	+	10	2766	c.2475C>T	c.(2473-2475)agC>agT	p.S825S	RP11-540B6.6_ENST00000602886.1_RNA|FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	825					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACAGACGCAGCGGTTTTGACC	0.627								Direct reversal of damage																														uc001zff.2		NA																	0					0						c.(2473-2475)AGC>AGT	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							124.0	123.0	123.0					15																	31218129		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31218129C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2475C>T	15.37:g.31218129C>T						MTMR15_uc001zfe.2_Silent_p.S430S	p.S825S	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	10	2766	+		all_lung(180;2.23e-09)	825					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.2475C>T	CCDS32186.1																																																																																				0.627	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		22	277	0	0	0	0	22	277				
TYRO3	7301	broad.mit.edu	37	15	41864735	41864735	+	Silent	SNP	C	C	T	rs377341711		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:41864735C>T	ENST00000263798.3	+	15	2072	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TYRO3_ENST00000559066.1_Silent_p.L571L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTTCCTGCTCGCCTCCCGGA	0.617																																						uc001zof.1		NA																	0				ovary(3)|lung(2)|central_nervous_system(1)	6						c.(1846-1848)CTC>CTT		TYRO3 protein tyrosine kinase precursor		C		0,4406		0,0,2203	72.0	64.0	67.0		1848	-7.2	0.7	15		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TYRO3	NM_006293.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		616/891	41864735	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41864735C>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1848C>T	15.37:g.41864735C>T							p.L616L	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	15	2072	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	616			Protein kinase.|Cytoplasmic (Potential).		O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	c.1848C>T	CCDS10080.1																																																																																				0.617	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			4	83	0	0	0	0	4	83				
VPS39	23339	broad.mit.edu	37	15	42457948	42457948	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:42457948C>G	ENST00000348544.4	-	18	1779	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	VPS39_ENST00000318006.5_Missense_Mutation_p.E583Q			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	594					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTAAAATTCTCTATTAAGAAG	0.443																																						uc001zpd.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1780-1782)GAG>CAG		vacuolar protein sorting 39							92.0	94.0	93.0					15																	42457948		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42457948C>G	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1780G>C	15.37:g.42457948C>G	ENSP00000335193:p.Glu594Gln					VPS39_uc001zpc.2_Missense_Mutation_p.E583Q|VPS39_uc001zpb.2_5'UTR	p.E594Q	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	18	1931	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	594					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.1780G>C	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355886	0.61293	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.42900	0.96;0.97	5.68	5.68	0.88126	.	0.050100	0.85682	D	0.000000	T	0.31827	0.0809	N	0.20530	0.585	0.58432	D	0.999998	B;B	0.13145	0.002;0.007	B;B	0.15052	0.005;0.012	T	0.08186	-1.0734	10	0.18710	T	0.47	-27.0619	19.794	0.96471	0.0:1.0:0.0:0.0	.	594;583	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Q	583;594	ENSP00000326534:E583Q;ENSP00000335193:E594Q	ENSP00000326534:E583Q	E	-	1	0	VPS39	40245240	1.000000	0.71417	0.987000	0.45799	0.918000	0.54935	6.698000	0.74608	2.678000	0.91216	0.655000	0.94253	GAG		0.443	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		8	148	0	0	0	0	8	148				
BLOC1S6	26258	broad.mit.edu	37	15	45898619	45898619	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:45898619G>C	ENST00000220531.3	+	5	747	c.426G>C	c.(424-426)aaG>aaC	p.K142N	BLOC1S6_ENST00000565409.1_Missense_Mutation_p.K45N|BLOC1S6_ENST00000568816.1_Missense_Mutation_p.K45N|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.K147N|BLOC1S6_ENST00000567740.1_3'UTR|BLOC1S6_ENST00000564765.1_Missense_Mutation_p.K16N|BLOC1S6_ENST00000562384.1_Missense_Mutation_p.K45N|BLOC1S6_ENST00000567461.1_Missense_Mutation_p.K45N|BLOC1S6_ENST00000565216.1_Missense_Mutation_p.K101N|RP11-96O20.4_ENST00000564080.1_Intron	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	142					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										TGCAGCAGAAGAGGCAAAAAG	0.383																																						uc001zvq.2		NA																	0				skin(1)	1						c.(424-426)AAG>AAC		pallidin							156.0	155.0	156.0					15																	45898619		2198	4298	6496	SO:0001583	missense	26258				post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding	g.chr15:45898619G>C	AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.426G>C	15.37:g.45898619G>C	ENSP00000220531:p.Lys142Asn					PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	p.K142N	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)	5	651	+		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)	142			Potential.			Missense_Mutation	SNP	ENST00000220531.3	37	c.426G>C	CCDS10126.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286485	0.40494	.	.	ENSG00000104164	ENST00000220531	.	.	.	6.17	4.25	0.50352	.	0.134805	0.64402	D	0.000002	T	0.41259	0.1151	L	0.54323	1.7	0.44843	D	0.997855	P	0.35272	0.493	B	0.27380	0.079	T	0.31308	-0.9948	9	0.30854	T	0.27	-16.3821	8.8904	0.35429	0.1875:0.0:0.8125:0.0	.	142	Q9UL45	PLDN_HUMAN	N	142	.	ENSP00000220531:K142N	K	+	3	2	PLDN	43685911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.855000	0.39378	1.538000	0.49270	0.655000	0.94253	AAG		0.383	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2	NM_012388		7	183	0	0	0	0	7	183				
RFX7	64864	broad.mit.edu	37	15	56387891	56387891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:56387891G>A	ENST00000559447.2	-	9	2015	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*	RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q679*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q582*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.Q679*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	582					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGAAAGCTGTTCCACAATT	0.448																																						uc010bfn.2		NA																	0					0						c.(2035-2037)CAG>TAG		regulatory factor X domain containing 2							107.0	101.0	103.0					15																	56387891		1887	4113	6000	SO:0001587	stop_gained	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387891G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1744C>T	15.37:g.56387891G>A	ENSP00000453281:p.Gln582*					RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Nonsense_Mutation_p.Q493*	p.Q679*	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	2035	-			582					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	ENST00000559447.2	37	c.2035C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.742795	0.96873	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	5.57	5.57	0.84162	.	0.089115	0.47852	D	0.000210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.7457	18.5333	0.91000	0.0:0.0:1.0:0.0	.	.	.	.	X	582;679;679	.	ENSP00000313299:Q679X	Q	-	1	0	RFX7	54175183	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.134000	0.71689	2.600000	0.87896	0.655000	0.94253	CAG		0.448	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		10	197	0	0	0	0	10	197				
HERC1	8925	broad.mit.edu	37	15	63972741	63972741	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:63972741C>T	ENST00000443617.2	-	35	6547	c.6460G>A	c.(6460-6462)Gga>Aga	p.G2154R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2154	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTACCTCTCCATTTTTCCCA	0.388																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(6460-6462)GGA>AGA		hect domain and RCC1-like domain 1							83.0	80.0	81.0					15																	63972741		1869	4097	5966	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63972741C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6460G>A	15.37:g.63972741C>T	ENSP00000390158:p.Gly2154Arg						p.G2154R	NM_003922	NP_003913	Q15751	HERC1_HUMAN			35	6608	-			2154			B30.2/SPRY.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6460G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188428	0.94923	.	.	ENSG00000103657	ENST00000443617	T	0.66099	-0.19	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000001	T	0.78368	0.4272	M	0.64404	1.975	0.80722	D	1	D	0.69078	0.997	D	0.71184	0.972	T	0.78879	-0.2030	10	0.87932	D	0	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	2154	Q15751	HERC1_HUMAN	R	2154	ENSP00000390158:G2154R	ENSP00000390158:G2154R	G	-	1	0	HERC1	61759794	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.037000	0.70956	2.763000	0.94921	0.557000	0.71058	GGA		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	74	0	0	0	0	4	74				
PTPLAD1	51495	broad.mit.edu	37	15	65847227	65847227	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:65847227C>G	ENST00000261875.5	+	3	299	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	PTPLAD1_ENST00000565299.1_Missense_Mutation_p.Q83E|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.Q45E|RNU6-19P_ENST00000384718.1_RNA|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.Q20E|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000569894.1_5'UTR	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	45	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTTATAGCTCAAGGACATGG	0.433																																						uc002apc.2		NA																	0					0						c.(133-135)CAA>GAA		protein tyrosine phosphatase-like A domain							195.0	185.0	188.0					15																	65847227		1887	4118	6005	SO:0001583	missense	51495				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	g.chr15:65847227C>G		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.133C>G	15.37:g.65847227C>G	ENSP00000261875:p.Gln45Glu					PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.Q45E	p.Q45E	NM_016395	NP_057479	Q9P035	HACD3_HUMAN			3	281	+			45			CS.|Cytoplasmic (Potential).		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation	SNP	ENST00000261875.5	37	c.133C>G	CCDS45282.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161883	0.57368	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.41065	1.01;2.57	4.7	4.7	0.59300	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.313588	0.35349	N	0.003277	T	0.43634	0.1256	L	0.46157	1.445	0.80722	D	1	P;P	0.43857	0.625;0.819	B;P	0.44990	0.138;0.466	T	0.23762	-1.0179	10	0.27082	T	0.32	-2.2948	17.8174	0.88639	0.0:1.0:0.0:0.0	.	45;45	B4DRF4;Q9P035	.;HACD3_HUMAN	E	45	ENSP00000392491:Q45E;ENSP00000261875:Q45E	ENSP00000261875:Q45E	Q	+	1	0	PTPLAD1	63634280	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.600000	0.67599	2.447000	0.82792	0.563000	0.77884	CAA		0.433	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395		7	254	0	0	0	0	7	254				
ISLR2	57611	broad.mit.edu	37	15	74425126	74425126	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:74425126T>G	ENST00000361742.3	+	4	800	c.31T>G	c.(31-33)Tgg>Ggg	p.W11G	ISLR2_ENST00000435464.1_Missense_Mutation_p.W11G|ISLR2_ENST00000419208.1_Missense_Mutation_p.W11G|ISLR2_ENST00000453268.2_Missense_Mutation_p.W11G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.W11G|ISLR2_ENST00000445793.1_Missense_Mutation_p.W11G|ISLR2_ENST00000565540.1_Missense_Mutation_p.W11G	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	11					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTGGTTGGTCTGGGCGCTTCT	0.607																																						uc002axd.2		NA																	0					0						c.(31-33)TGG>GGG		immunoglobulin superfamily containing							40.0	39.0	39.0					15																	74425126		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425126T>G		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.31T>G	15.37:g.74425126T>G	ENSP00000355402:p.Trp11Gly					ISLR2_uc002axe.2_Missense_Mutation_p.W11G|ISLR2_uc010bjg.2_Missense_Mutation_p.W11G|ISLR2_uc010bjf.2_Missense_Mutation_p.W11G	p.W11G	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	800	+			11					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.31T>G	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	T	7.346	0.621881	0.14193	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	4.8	4.8	0.61643	.	0.000000	0.42420	D	0.000711	T	0.27866	0.0686	N	0.04297	-0.235	0.40662	D	0.982138	B	0.33694	0.421	B	0.27500	0.08	T	0.28522	-1.0041	10	0.59425	D	0.04	.	10.5067	0.44839	0.0:0.0:0.1626:0.8374	.	11	Q6UXK2	ISLR2_HUMAN	G	11	ENSP00000403244:W11G;ENSP00000355402:W11G;ENSP00000411443:W11G;ENSP00000411834:W11G;ENSP00000408872:W11G	ENSP00000355402:W11G	W	+	1	0	ISLR2	72212179	0.997000	0.39634	0.948000	0.38648	0.204000	0.24138	2.946000	0.49050	1.793000	0.52555	0.334000	0.21626	TGG		0.607	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		40	58	0	0	0	0	40	58				
PLIN1	5346	broad.mit.edu	37	15	90210857	90210857	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:90210857C>T	ENST00000300055.5	-	7	1104	c.939G>A	c.(937-939)gaG>gaA	p.E313E	PLIN1_ENST00000430628.2_Silent_p.E313E	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	313	Poly-Glu.|Required for interaction with CIDEC. {ECO:0000250}.				lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						tctcctcagtctccaattctt	0.607																																						uc010upx.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(937-939)GAG>GAA		perilipin 1							242.0	170.0	194.0					15																	90210857		2200	4299	6499	SO:0001819	synonymous_variant	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90210857C>T	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.939G>A	15.37:g.90210857C>T						PLIN1_uc002boh.2_Silent_p.E313E	p.E313E	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN			7	1049	-			313			Poly-Glu.		Q8N5Y6	Silent	SNP	ENST00000300055.5	37	c.939G>A	CCDS10353.1																																																																																				0.607	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		5	52	0	0	0	0	5	52				
MVP	9961	broad.mit.edu	37	16	29853148	29853148	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:29853148G>A	ENST00000357402.5	+	9	1561	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E475K	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	475					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGACTACCGAGAGAAGCGAGC	0.662																																						uc002dui.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1423-1425)GAG>AAG		major vault protein							40.0	41.0	41.0					16																	29853148		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29853148G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1423G>A	16.37:g.29853148G>A	ENSP00000349977:p.Glu475Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E475K|MVP_uc010vea.1_Missense_Mutation_p.E69K	p.E475K	NM_005115	NP_005106	Q14764	MVP_HUMAN			9	1507	+			475			MVP 9.		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1423G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317152	0.40996	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.31247	1.5;1.5	5.92	5.92	0.95590	.	0.149213	0.64402	D	0.000012	T	0.32882	0.0844	M	0.66939	2.045	0.80722	D	1	B	0.33103	0.397	B	0.32465	0.146	T	0.11616	-1.0580	10	0.09084	T	0.74	-11.4064	17.8054	0.88600	0.0:0.0:1.0:0.0	.	475	Q14764	MVP_HUMAN	K	475	ENSP00000349977:E475K;ENSP00000378760:E475K	ENSP00000349977:E475K	E	+	1	0	MVP	29760649	1.000000	0.71417	0.977000	0.42913	0.355000	0.29361	6.348000	0.73009	2.793000	0.96121	0.650000	0.86243	GAG		0.662	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		4	73	0	0	0	0	4	73				
ALDOA	226	broad.mit.edu	37	16	30080707	30080707	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:30080707G>C	ENST00000566897.1	+	9	1773	c.621G>C	c.(619-621)gaG>gaC	p.E207D	ALDOA_ENST00000564546.1_Missense_Mutation_p.E207D|ALDOA_ENST00000569798.1_Missense_Mutation_p.E207D|ALDOA_ENST00000395248.1_Missense_Mutation_p.E261D|ALDOA_ENST00000563060.2_Missense_Mutation_p.E207D|ALDOA_ENST00000412304.2_Missense_Mutation_p.E207D|ALDOA_ENST00000338110.5_Missense_Mutation_p.E207D|ALDOA_ENST00000564595.2_Missense_Mutation_p.E261D|ALDOA_ENST00000569545.1_Missense_Mutation_p.E207D|ALDOA_ENST00000395240.3_Missense_Mutation_p.E211D			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	207			E -> K (in GSD12; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity). {ECO:0000269|PubMed:8598869}.		actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ATGTGACCGAGAAGGTAAATG	0.622											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dvw.2		NA																	0				lung(1)	1						c.(619-621)GAG>GAC		fructose-bisphosphate aldolase A							110.0	100.0	103.0					16																	30080707		2197	4300	6497	SO:0001583	missense	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30080707G>C	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.621G>C	16.37:g.30080707G>C	ENSP00000455724:p.Glu207Asp		OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.E207D|ALDOA_uc002dvy.2_Missense_Mutation_p.E207D|ALDOA_uc002dvz.2_Missense_Mutation_p.E207D|ALDOA_uc002dwa.3_Missense_Mutation_p.E207D|ALDOA_uc002dwb.1_Missense_Mutation_p.E207D|ALDOA_uc002dwc.2_Missense_Mutation_p.E207D|ALDOA_uc010veg.1_Missense_Mutation_p.E261D|ALDOA_uc002dwd.2_Missense_Mutation_p.E211D	p.E207D	NM_184043	NP_908932	P04075	ALDOA_HUMAN			9	1749	+			207		E -> K (in GSD12; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity).			B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	c.621G>C	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827746	0.71143	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.87256	-2.23;-2.23;-2.23	5.87	4.87	0.63330	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.93621	0.7963	M	0.90705	3.14	0.80722	D	1	P;D;P	0.59767	0.937;0.986;0.937	P;D;P	0.71414	0.723;0.973;0.723	D	0.93911	0.7197	10	0.87932	D	0	.	9.9744	0.41774	0.1747:0.0:0.8253:0.0	.	66;89;207	A4UCT0;A4UCS9;P04075	.;.;ALDOA_HUMAN	D	261;207;207;207	ENSP00000378669:E261D;ENSP00000336927:E207D;ENSP00000400452:E207D	ENSP00000336927:E207D	E	+	3	2	ALDOA	29988208	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.652000	0.61454	1.354000	0.45846	0.655000	0.94253	GAG		0.622	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		5	160	0	0	0	0	5	160				
SRCAP	10847	broad.mit.edu	37	16	30727497	30727497	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:30727497C>G	ENST00000262518.4	+	17	2989	c.2604C>G	c.(2602-2604)ctC>ctG	p.L868L	SRCAP_ENST00000395059.2_Silent_p.L868L|SRCAP_ENST00000344771.4_Silent_p.L868L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	868					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AACGCTGTCTCTATGATGACT	0.512																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(2602-2604)CTC>CTG		Snf2-related CBP activator protein							127.0	112.0	117.0					16																	30727497		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30727497C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2604C>G	16.37:g.30727497C>G						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L725L|SRCAP_uc010bzz.1_Silent_p.L438L	p.L868L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		17	2989	+			868					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.2604C>G	CCDS10689.2																																																																																				0.512	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	173	0	0	0	0	10	173				
KCTD19	146212	broad.mit.edu	37	16	67329284	67329284	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:67329284G>C	ENST00000304372.5	-	9	1328	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	425	BTB 2.				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)		TACACTCTCTGAGGGTTGGAC	0.527																																						uc002esu.2		NA																	0				skin(1)	1						c.(1273-1275)CAG>GAG		potassium channel tetramerisation domain							92.0	85.0	87.0					16																	67329284		1949	4142	6091	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67329284G>C	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.1273C>G	16.37:g.67329284G>C	ENSP00000305702:p.Gln425Glu					KCTD19_uc002est.2_Missense_Mutation_p.Q197E|KCTD19_uc010vjj.1_Missense_Mutation_p.Q168E	p.Q425E	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	9	1324	-		Ovarian(137;0.192)	425			BTB 2.		B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1273C>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885386	0.33255	.	.	ENSG00000168676	ENST00000304372	T	0.56941	0.43	5.5	5.5	0.81552	BTB/POZ fold (2);	0.208547	0.34156	N	0.004219	T	0.34454	0.0898	L	0.31371	0.925	0.28204	N	0.927224	P	0.34699	0.464	B	0.29353	0.101	T	0.21415	-1.0246	10	0.08837	T	0.75	-9.4631	11.9718	0.53067	0.0:0.0:0.8271:0.1729	.	425	Q17RG1	KCD19_HUMAN	E	425	ENSP00000305702:Q425E	ENSP00000305702:Q425E	Q	-	1	0	KCTD19	65886785	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.266000	0.51569	2.600000	0.87896	0.655000	0.94253	CAG		0.527	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		3	93	0	0	0	0	3	93				
CIRH1A	84916	broad.mit.edu	37	16	69184786	69184786	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:69184786C>T	ENST00000314423.7	+	8	1158	c.981C>T	c.(979-981)ctC>ctT	p.L327L	CIRH1A_ENST00000352319.4_Silent_p.L327L|CIRH1A_ENST00000563094.1_Silent_p.L327L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	327					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATGCCGCTCTCCGAAAAATCA	0.527																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3		NA																	0					0						c.(979-981)CTC>CTT		cirhin							113.0	96.0	102.0					16																	69184786		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69184786C>T	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.981C>T	16.37:g.69184786C>T						CIRH1A_uc002ewr.2_Silent_p.L327L|CIRH1A_uc002ewt.3_Silent_p.L244L|CIRH1A_uc010cfi.2_Silent_p.L244L|CIRH1A_uc010cfj.1_Silent_p.L146L	p.L327L	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	8	1077	+			327			WD 8.		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.981C>T	CCDS10872.1																																																																																				0.527	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		9	179	0	0	0	0	9	179				
RFWD3	55159	broad.mit.edu	37	16	74660297	74660297	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:74660297C>T	ENST00000361070.4	-	12	2222	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	RFWD3_ENST00000571750.1_Missense_Mutation_p.E709K	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	709					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCATCATTCTCTGGGCTTTGG	0.423																																						uc002fda.2		NA																	0				lung(2)|breast(1)	3						c.(2125-2127)GAG>AAG		ring finger and WD repeat domain 3							207.0	186.0	193.0					16																	74660297		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74660297C>T	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.2125G>A	16.37:g.74660297C>T	ENSP00000354361:p.Glu709Lys					RFWD3_uc010vmx.1_Missense_Mutation_p.E229K|RFWD3_uc010cgq.2_Missense_Mutation_p.E709K	p.E709K	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			12	2223	-			709					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.2125G>A	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422472	0.43020	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.19250	2.16	5.49	0.201	0.15186	WD40/YVTN repeat-like-containing domain (1);	0.503225	0.23249	N	0.050266	T	0.19485	0.0468	M	0.72118	2.19	0.41029	D	0.985143	B	0.14805	0.011	B	0.14023	0.01	T	0.06954	-1.0798	10	0.23891	T	0.37	-9.6181	7.4495	0.27229	0.0:0.6508:0.1139:0.2353	.	709	Q6PCD5	RFWD3_HUMAN	K	709;198	ENSP00000354361:E709K	ENSP00000354361:E709K	E	-	1	0	RFWD3	73217798	0.987000	0.35691	0.983000	0.44433	0.681000	0.39784	2.758000	0.47565	-0.164000	0.10927	-0.304000	0.09214	GAG		0.423	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		12	387	0	0	0	0	12	387				
ZFP1	162239	broad.mit.edu	37	16	75203689	75203689	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:75203689C>T	ENST00000393430.2	+	4	805	c.681C>T	c.(679-681)ctC>ctT	p.L227L	ZFP1_ENST00000332307.4_Silent_p.L194L|ZFP1_ENST00000570010.1_Silent_p.L227L|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AGGCCAACCTCATCAAACATC	0.423																																					NSCLC(187;1429 2122 10143 20357 42217)	uc002fdo.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(679-681)CTC>CTT		zinc finger protein 1 homolog							45.0	47.0	46.0					16																	75203689		2198	4300	6498	SO:0001819	synonymous_variant	162239				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:75203689C>T	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.681C>T	16.37:g.75203689C>T						ZFP1_uc002fdp.2_Silent_p.L172L|ZFP1_uc010cgt.2_Silent_p.L194L|ZFP1_uc010cgs.2_Silent_p.L172L|ZFP1_uc002fdq.2_Silent_p.L227L	p.L227L	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN			4	845	+			227			C2H2-type 2.		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Silent	SNP	ENST00000393430.2	37	c.681C>T	CCDS10914.2																																																																																				0.423	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		25	52	0	0	0	0	25	52				
TMEM231	79583	broad.mit.edu	37	16	75579249	75579249	+	Splice_Site	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:75579249C>T	ENST00000258173.6	-	4	659		c.e4+1		RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000569294.1_Splice_Site|TMEM231_ENST00000565067.1_Intron|TMEM231_ENST00000568377.1_Splice_Site|RP11-77K12.7_ENST00000460606.1_Splice_Site	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231						cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCGCTCTTACGTTGTATCGG	0.507																																						uc002fem.2		NA																	0					0						c.e4+1		transmembrane protein 231 isoform 2							125.0	125.0	125.0					16																	75579249		1992	4157	6149	SO:0001630	splice_region_variant	79583					integral to membrane		g.chr16:75579249C>T		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.582+1G>A	16.37:g.75579249C>T						CHST5_uc002fej.1_Intron|TMEM231_uc002fek.2_Splice_Site_p.N223_splice|TMEM231_uc002fel.2_Splice_Site_p.N78_splice|TMEM231_uc010vne.1_Intron|TMEM231_uc010cgx.1_Splice_Site_p.N158_splice	p.N194_splice	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN			4	645	-								A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Splice_Site	SNP	ENST00000258173.6	37	c.582_splice	CCDS45530.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707761	0.15239	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	.	.	.	4.19	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3979	0.49854	0.0:0.9078:0.0:0.0922	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM231	74136750	1.000000	0.71417	0.962000	0.40283	0.003000	0.03518	7.478000	0.81082	1.072000	0.40860	-0.384000	0.06662	.		0.507	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2	NM_001077416	Intron	71	148	0	0	0	0	71	148				
CENPN	55839	broad.mit.edu	37	16	81045655	81045655	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:81045655G>A	ENST00000305850.5	+	2	901	c.111G>A	c.(109-111)caG>caA	p.Q37Q	CMC2_ENST00000565914.1_Intron|CENPN_ENST00000428963.2_Silent_p.Q37Q|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000393335.3_Silent_p.Q37Q|CENPN_ENST00000299572.5_Silent_p.Q37Q|CENPN_ENST00000439957.3_Silent_p.Q37Q	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	37					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						ATCAACTGCAGACTGTAAATT	0.413																																						uc002ffx.2		NA																	0					0						c.(109-111)CAG>CAA		centromere protein N isoform 2							95.0	94.0	95.0					16																	81045655		2203	4300	6503	SO:0001819	synonymous_variant	55839				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr16:81045655G>A	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.111G>A	16.37:g.81045655G>A						CENPN_uc002ffw.3_Silent_p.Q37Q|CENPN_uc010vnl.1_Silent_p.Q37Q|CENPN_uc010vnm.1_Silent_p.Q37Q|CENPN_uc002ffy.3_Silent_p.Q37Q	p.Q37Q	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN			2	901	+			37					A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Silent	SNP	ENST00000305850.5	37	c.111G>A	CCDS42200.1																																																																																				0.413	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455		37	63	0	0	0	0	37	63				
DNAAF1	123872	broad.mit.edu	37	16	84211375	84211375	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:84211375C>G	ENST00000378553.5	+	12	2230	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	702					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.V702V(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGACGTGTGTCGGAGTTGCCC	0.577																																						uc002fhl.3		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(2104-2106)GTC>GTG		leucine rich repeat containing 50							113.0	106.0	108.0					16																	84211375		2200	4300	6500	SO:0001819	synonymous_variant	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84211375C>G	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2106C>G	16.37:g.84211375C>G						LRRC50_uc010vnw.1_Silent_p.V466V	p.V702V	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			12	2287	+			702					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.2106C>G	CCDS10943.2																																																																																				0.577	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		106	154	0	0	0	0	106	154				
NLRP1	22861	broad.mit.edu	37	17	5462809	5462809	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:5462809C>G	ENST00000572272.1	-	4	1206	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	NLRP1_ENST00000345221.3_Missense_Mutation_p.E403Q|NLRP1_ENST00000577119.1_Missense_Mutation_p.E403Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.E403Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.E403Q|NLRP1_ENST00000354411.3_Missense_Mutation_p.E403Q			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCAGCCGCTCTGGCCTAGAC	0.597																																						uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(1207-1209)GAG>CAG		NLR family, pyrin domain containing 1 isoform 1							43.0	45.0	44.0					17																	5462809		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462809C>G	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1207G>C	17.37:g.5462809C>G	ENSP00000460475:p.Glu403Gln					NLRP1_uc002gcg.1_Missense_Mutation_p.E403Q|NLRP1_uc002gck.2_Missense_Mutation_p.E403Q|NLRP1_uc002gcj.2_Missense_Mutation_p.E403Q|NLRP1_uc002gcl.2_Missense_Mutation_p.E403Q|NLRP1_uc002gch.3_Missense_Mutation_p.E403Q|NLRP1_uc010clh.2_Missense_Mutation_p.E403Q	p.E403Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			4	1762	-		Colorectal(1115;3.48e-05)	403			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.1207G>C	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281400	0.40394	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	4.33	2.33	0.28932	NACHT nucleoside triphosphatase (1);	0.868647	0.09615	N	0.778365	D	0.82962	0.5151	L	0.39566	1.225	0.09310	N	1	D;D;D;D;D	0.71674	0.997;0.997;0.992;0.997;0.998	D;D;D;D;D	0.70935	0.933;0.951;0.928;0.933;0.971	T	0.68731	-0.5331	10	0.66056	D	0.02	.	6.2665	0.20930	0.0:0.7776:0.0:0.2224	.	403;403;403;403;403	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	Q	403	ENSP00000442029:E403Q;ENSP00000262467:E403Q;ENSP00000269280:E403Q;ENSP00000346390:E403Q;ENSP00000324366:E403Q	ENSP00000262467:E403Q	E	-	1	0	NLRP1	5403533	0.000000	0.05858	0.004000	0.12327	0.579000	0.36224	0.301000	0.19174	1.179000	0.42884	0.650000	0.86243	GAG		0.597	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		4	95	0	0	0	0	4	95				
ATP1B2	482	broad.mit.edu	37	17	7557557	7557557	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:7557557C>G	ENST00000250111.4	+	4	941	c.534C>G	c.(532-534)gtC>gtG	p.V178V		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	178					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		AGCCCTGTGTCTTCATCAAGA	0.567																																						uc002gif.1		NA																	3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|pancreas(1)	2						c.(532-534)GTC>GTG		Na+/K+ -ATPase beta 2 subunit							114.0	111.0	112.0					17																	7557557		2203	4300	6503	SO:0001819	synonymous_variant	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7557557C>G	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.534C>G	17.37:g.7557557C>G							p.V178V	NM_001678	NP_001669	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	4	1117	+		all_cancers(10;0.000178)|Prostate(122;0.081)	178			Extracellular (Potential).		A0AV17|A8K278|D3DTQ2|O60444	Silent	SNP	ENST00000250111.4	37	c.534C>G	CCDS32550.1																																																																																				0.567	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		134	249	0	0	0	0	134	249				
TEFM	79736	broad.mit.edu	37	17	29226242	29226242	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:29226242G>A	ENST00000581216.1	-	4	1649	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	343					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										TTGTAATAATGAATCATAAAG	0.363																																						uc002hfu.2		NA																	0				ovary(1)	1						c.(1027-1029)TCA>TTA		hypothetical protein LOC79736							130.0	126.0	127.0					17																	29226242		1830	4085	5915	SO:0001583	missense	79736				oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	g.chr17:29226242G>A		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.1028C>T	17.37:g.29226242G>A	ENSP00000462963:p.Ser343Leu					C17orf42_uc002hfv.2_RNA	p.S343L	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN			4	1098	-		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	343					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Missense_Mutation	SNP	ENST00000581216.1	37	c.1028C>T	CCDS42291.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285667	0.95517	.	.	ENSG00000172171	ENST00000306049	.	.	.	6.16	6.16	0.99307	Ribonuclease H-like (1);	0.056878	0.64402	D	0.000002	T	0.77478	0.4136	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.77387	-0.2607	9	0.72032	D	0.01	-20.075	19.6313	0.95704	0.0:0.0:1.0:0.0	.	343	Q96QE5	TEFM_HUMAN	L	343	.	ENSP00000306574:S343L	S	-	2	0	C17orf42	26250368	1.000000	0.71417	0.960000	0.40013	0.997000	0.91878	5.548000	0.67255	2.937000	0.99478	0.650000	0.86243	TCA		0.363	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		9	278	0	0	0	0	9	278				
KRT24	192666	broad.mit.edu	37	17	38855880	38855880	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:38855880C>T	ENST00000264651.2	-	6	1233	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	393	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TAGCCAGCTTCTGTGTCAGCC	0.438																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2		NA																	0					0						c.(1177-1179)GAA>AAA		keratin 24							73.0	72.0	73.0					17																	38855880		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38855880C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1177G>A	17.37:g.38855880C>T	ENSP00000264651:p.Glu393Lys						p.E393K	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			6	1234	-		Breast(137;0.00526)	393			Rod.|Coil 2.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.1177G>A	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739279	0.89573	.	.	ENSG00000167916	ENST00000264651	D	0.91577	-2.87	5.34	5.34	0.76211	Filament (1);	.	.	.	.	D	0.95033	0.8392	M	0.75264	2.295	0.54753	D	0.999981	D	0.67145	0.996	D	0.71184	0.972	D	0.94681	0.7865	9	0.49607	T	0.09	.	19.0616	0.93095	0.0:1.0:0.0:0.0	.	393	Q2M2I5	K1C24_HUMAN	K	393	ENSP00000264651:E393K	ENSP00000264651:E393K	E	-	1	0	KRT24	36109406	0.992000	0.36948	0.995000	0.50966	0.986000	0.74619	2.964000	0.49192	2.499000	0.84300	0.591000	0.81541	GAA		0.438	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		14	242	0	0	0	0	14	242				
CBX1	10951	broad.mit.edu	37	17	46152376	46152376	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:46152376C>G	ENST00000393408.3	-	4	885	c.405G>C	c.(403-405)ctG>ctC	p.L135L	CBX1_ENST00000225603.4_Silent_p.L135L|CBX1_ENST00000495350.1_Silent_p.L135L	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	135	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						ACCATTTCATCAGGAACATGA	0.478																																					NSCLC(136;694 2497 38792 39034)	uc002ind.3		NA																	0					0						c.(403-405)CTG>CTC		heterochromatin protein 1-beta							137.0	138.0	138.0					17																	46152376		2203	4300	6503	SO:0001819	synonymous_variant	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46152376C>G	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.405G>C	17.37:g.46152376C>G						CBX1_uc002ine.3_Silent_p.L135L	p.L135L	NM_006807	NP_006798	P83916	CBX1_HUMAN			4	886	-			135			Chromo 2; shadow subtype.	PxVxL motif (By similarity).	P23197	Silent	SNP	ENST00000393408.3	37	c.405G>C	CCDS11525.1																																																																																				0.478	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		11	286	0	0	0	0	11	286				
MTMR4	9110	broad.mit.edu	37	17	56573327	56573327	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:56573327C>T	ENST00000323456.5	-	16	2300	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	MTMR4_ENST00000579925.1_Missense_Mutation_p.E669K	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	726					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTAGTCTCTTCTAGGACTTTG	0.493																																						uc002iwj.2		NA																	0				skin(1)	1						c.(2176-2178)GAA>AAA		myotubularin related protein 4							201.0	209.0	206.0					17																	56573327		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56573327C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2176G>A	17.37:g.56573327C>T	ENSP00000325285:p.Glu726Lys						p.E726K	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			16	2286	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		726					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.2176G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	5.186	0.219847	0.09863	.	.	ENSG00000108389	ENST00000323456	D	0.93712	-3.27	4.57	1.48	0.22813	.	1.150470	0.05990	N	0.645931	D	0.86134	0.5860	N	0.24115	0.695	0.21950	N	0.999457	B	0.16603	0.018	B	0.15484	0.013	T	0.70626	-0.4820	10	0.07482	T	0.82	.	8.2864	0.31930	0.0:0.6633:0.0:0.3367	.	726	Q9NYA4	MTMR4_HUMAN	K	726	ENSP00000325285:E726K	ENSP00000325285:E726K	E	-	1	0	MTMR4	53928326	0.000000	0.05858	0.958000	0.39756	0.558000	0.35554	0.743000	0.26231	0.273000	0.22049	-0.137000	0.14449	GAA		0.493	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		31	610	0	0	0	0	31	610				
PRR11	55771	broad.mit.edu	37	17	57270903	57270903	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:57270903G>A	ENST00000262293.4	+	5	765	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	151						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CATGTCACATGAGTGGTAAAC	0.458																																						uc002ixf.1		NA																	0				ovary(2)	2						c.(451-453)ATG>ATA		proline rich 11							157.0	128.0	138.0					17																	57270903		2203	4300	6503	SO:0001583	missense	55771							g.chr17:57270903G>A		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.453G>A	17.37:g.57270903G>A	ENSP00000262293:p.Met151Ile					PRR11_uc002ixg.1_RNA	p.M151I	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN			5	532	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		151					Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	c.453G>A	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213134	0.39102	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.25	1.01	0.19927	.	1.649200	0.03184	N	0.172437	T	0.25082	0.0609	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17806	-1.0357	9	0.27785	T	0.31	-11.327	7.9439	0.29974	0.3344:0.0:0.6656:0.0	.	151	Q96HE9	PRR11_HUMAN	I	151	.	ENSP00000262293:M151I	M	+	3	0	PRR11	54625685	0.000000	0.05858	0.000000	0.03702	0.730000	0.41778	0.532000	0.23067	0.043000	0.15746	0.561000	0.74099	ATG		0.458	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		7	138	0	0	0	0	7	138				
AXIN2	8313	broad.mit.edu	37	17	63532463	63532463	+	Missense_Mutation	SNP	C	C	T	rs121908567		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:63532463C>T	ENST00000375702.5	-	6	2029	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	AXIN2_ENST00000307078.5_Missense_Mutation_p.E706K			Q9Y2T1	AXIN2_HUMAN	axin 2	706					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTCGACACCTCAGCTAGCCTG	0.642									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2116-2118)GAG>AAG		axin 2							21.0	21.0	21.0					17																	63532463		2203	4300	6503	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532463C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1921G>A	17.37:g.63532463C>T	ENSP00000364854:p.Glu641Lys					AXIN2_uc002jfh.2_Missense_Mutation_p.E641K	p.E706K	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			8	2405	-			706					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.2116G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.061394	0.93846	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.73258	-0.73;-0.6	5.51	5.51	0.81932	.	0.050594	0.85682	D	0.000000	D	0.84329	0.5448	M	0.70595	2.14	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.985	D	0.85596	0.1249	10	0.87932	D	0	-32.8056	19.4276	0.94749	0.0:1.0:0.0:0.0	.	706;641	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	K	706;641	ENSP00000302625:E706K;ENSP00000364854:E641K	ENSP00000302625:E706K	E	-	1	0	AXIN2	60962925	1.000000	0.71417	0.895000	0.35142	0.799000	0.45148	7.311000	0.78958	2.574000	0.86865	0.650000	0.86243	GAG		0.642	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		3	24	0	0	0	0	3	24				
QRICH2	84074	broad.mit.edu	37	17	74287166	74287166	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74287166C>T	ENST00000262765.5	-	4	3323	c.3144G>A	c.(3142-3144)atG>atA	p.M1048I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1048										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGATCCTTCATACTCTCCT	0.532																																						uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3142-3144)ATG>ATA		glutamine rich 2							116.0	112.0	113.0					17																	74287166		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74287166C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3144G>A	17.37:g.74287166C>T	ENSP00000262765:p.Met1048Ile					QRICH2_uc010wsz.1_Missense_Mutation_p.M974I|QRICH2_uc010dgw.1_Intron	p.M1048I	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	3324	-			1048					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3144G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927993	0.34002	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.45668	3.0;0.89	5.54	3.3	0.37823	.	.	.	.	.	T	0.23649	0.0572	N	0.14661	0.345	0.20307	N	0.999912	B;B	0.17667	0.023;0.023	B;B	0.18561	0.022;0.006	T	0.25745	-1.0123	9	0.16896	T	0.51	-2.1145	8.1919	0.31374	0.0:0.7831:0.0:0.2169	.	1048;1048	B5MD94;Q9H0J4	.;QRIC2_HUMAN	I	1048;56;1048	ENSP00000262765:M1048I;ENSP00000394461:M56I	ENSP00000262765:M1048I	M	-	3	0	QRICH2	71798761	0.445000	0.25657	0.194000	0.23346	0.055000	0.15305	0.353000	0.20130	0.514000	0.28300	0.555000	0.69702	ATG		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		8	195	0	0	0	0	8	195				
JMJD6	23210	broad.mit.edu	37	17	74721741	74721741	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74721741G>A	ENST00000397625.4	-	2	440	c.326C>T	c.(325-327)tCa>tTa	p.S109L	METTL23_ENST00000589977.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.S109L|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.S109L|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588822.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	109					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CATCTTCACTGAGTAGCCATC	0.463																																						uc002jso.2		NA																	0				skin(2)|ovary(1)	3						c.(325-327)TCA>TTA		jumonji domain containing 6 isoform 2							177.0	172.0	173.0					17																	74721741		1972	4166	6138	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74721741G>A	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.326C>T	17.37:g.74721741G>A	ENSP00000380750:p.Ser109Leu					JMJD6_uc002jsn.1_Missense_Mutation_p.S109L|JMJD6_uc010dgz.2_Missense_Mutation_p.S109L|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	p.S109L	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN			2	650	-			109					B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.326C>T	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895812	0.91962	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.69806	-0.43;-0.43	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.88640	2.97	0.80722	D	1	D;D;D	0.56287	0.975;0.968;0.975	B;B;P	0.48524	0.317;0.309;0.58	D	0.83726	0.0195	10	0.66056	D	0.02	-6.8881	19.7472	0.96257	0.0:0.0:1.0:0.0	.	109;109;109	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	L	109	ENSP00000394085:S109L;ENSP00000380750:S109L	ENSP00000302916:S109L	S	-	2	0	JMJD6	72233336	1.000000	0.71417	0.982000	0.44146	0.824000	0.46624	9.854000	0.99522	2.653000	0.90120	0.561000	0.74099	TCA		0.463	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		11	262	0	0	0	0	11	262				
JMJD6	23210	broad.mit.edu	37	17	74721784	74721784	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74721784G>C	ENST00000397625.4	-	2	397	c.283C>G	c.(283-285)Cgg>Ggg	p.R95G	METTL23_ENST00000589977.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.R95G|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.R95G|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588822.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	95					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TTCTGGTTCCGATATTTCCTT	0.473																																						uc002jso.2		NA																	0				skin(2)|ovary(1)	3						c.(283-285)CGG>GGG		jumonji domain containing 6 isoform 2							165.0	156.0	159.0					17																	74721784		1932	4150	6082	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74721784G>C	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.283C>G	17.37:g.74721784G>C	ENSP00000380750:p.Arg95Gly					JMJD6_uc002jsn.1_Missense_Mutation_p.R95G|JMJD6_uc010dgz.2_Missense_Mutation_p.R95G|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	p.R95G	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN			2	607	-			95			Nuclear localization signal 2.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.283C>G	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841997	0.32513	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.63580	-0.05;-0.05	5.66	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.31926	0.97	0.80722	D	1	B;B;B	0.22080	0.051;0.064;0.029	B;B;B	0.20384	0.029;0.019;0.027	T	0.44544	-0.9321	10	0.25751	T	0.34	-11.8651	14.7043	0.69176	0.0:0.0:0.616:0.384	.	95;95;95	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	G	95	ENSP00000394085:R95G;ENSP00000380750:R95G	ENSP00000302916:R95G	R	-	1	2	JMJD6	72233379	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.404000	0.44539	1.360000	0.45960	-0.314000	0.08810	CGG		0.473	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		10	241	0	0	0	0	10	241				
DNAH17	8632	broad.mit.edu	37	17	76459075	76459075	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:76459075C>G	ENST00000585328.1	-	57	9134	c.9010G>C	c.(9010-9012)Gag>Cag	p.E3004Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E2995Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2995					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGCGCCTCTCAGTAGCCAGG	0.498																																						uc010dhp.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(25-27)GAG>CAG		SubName: Full=DNAH17 variant protein; Flags: Fragment;							177.0	139.0	152.0					17																	76459075		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76459075C>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9010G>C	17.37:g.76459075C>G	ENSP00000465516:p.Glu3004Gln					DNAH17_uc002jvs.2_RNA	p.E9Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	247	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.25G>C		.	.	.	.	.	.	.	.	.	.	C	29.4	5.004249	0.93287	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56103	0.48	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000016	T	0.71558	0.3354	M	0.79475	2.455	0.50467	D	0.999874	D	0.61697	0.99	P	0.62298	0.9	T	0.73030	-0.4111	10	0.42905	T	0.14	.	18.4592	0.90732	0.0:1.0:0.0:0.0	.	3004	E7EUM8	.	Q	3004;2995	ENSP00000374490:E2995Q	ENSP00000300671:E3004Q	E	-	1	0	DNAH17	73970670	1.000000	0.71417	0.901000	0.35422	0.872000	0.50106	7.387000	0.79785	2.361000	0.80049	0.555000	0.69702	GAG		0.498	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		9	97	0	0	0	0	9	97				
GAA	2548	broad.mit.edu	37	17	78092121	78092121	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:78092121G>C	ENST00000302262.3	+	18	2830	c.2611G>C	c.(2611-2613)Ggg>Cgg	p.G871R	GAA_ENST00000390015.3_Missense_Mutation_p.G871R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	871					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GCTGGAGCGAGGGGCCTACAC	0.677																																						uc002jxo.2		NA																	0				ovary(1)	1						c.(2611-2613)GGG>CGG		acid alpha-glucosidase preproprotein	Acarbose(DB00284)						66.0	74.0	71.0					17																	78092121		2203	4300	6503	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78092121G>C		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2611G>C	17.37:g.78092121G>C	ENSP00000305692:p.Gly871Arg					GAA_uc002jxp.2_Missense_Mutation_p.G871R|GAA_uc002jxq.2_Missense_Mutation_p.G871R	p.G871R	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		19	2793	+	all_neural(118;0.117)		871					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.2611G>C	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333502	0.41297	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91237	-2.81;-2.81	5.65	5.65	0.86999	.	0.283582	0.39759	N	0.001276	D	0.91503	0.7317	M	0.85859	2.78	0.45378	D	0.998368	B	0.25105	0.118	B	0.29077	0.098	D	0.88699	0.3214	10	0.35671	T	0.21	-34.336	14.8741	0.70481	0.0:0.1436:0.8564:0.0	.	871	P10253	LYAG_HUMAN	R	871	ENSP00000305692:G871R;ENSP00000374665:G871R	ENSP00000305692:G871R	G	+	1	0	GAA	75706716	1.000000	0.71417	0.954000	0.39281	0.593000	0.36681	3.799000	0.55529	2.650000	0.89964	0.655000	0.94253	GGG		0.677	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			7	165	0	0	0	0	7	165				
CETN1	1068	broad.mit.edu	37	18	580886	580886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:580886G>T	ENST00000327228.3	+	1	520	c.478G>T	c.(478-480)Gag>Tag	p.E160*		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	160	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGTGAACGAGGAGGAGTTCCT	0.537																																						uc002kko.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(478-480)GAG>TAG		centrin 1							77.0	76.0	76.0					18																	580886		2203	4298	6501	SO:0001587	stop_gained	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580886G>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.478G>T	18.37:g.580886G>T	ENSP00000319052:p.Glu160*						p.E160*	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	520	+			160			2 (Probable).|EF-hand 4.		B2R536	Nonsense_Mutation	SNP	ENST00000327228.3	37	c.478G>T	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126758	0.77549	.	.	ENSG00000177143	ENST00000327228	.	.	.	5.2	1.07	0.20283	.	0.272209	0.33980	N	0.004373	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.5048	0.11881	0.0845:0.3931:0.3805:0.1419	.	.	.	.	X	160	.	ENSP00000319052:E160X	E	+	1	0	CETN1	570886	0.997000	0.39634	0.760000	0.31359	0.701000	0.40568	0.937000	0.28951	0.415000	0.25817	-0.182000	0.12963	GAG		0.537	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		27	117	1	0	1.04e-07	1.09e-07	27	117				
DLGAP1	9229	broad.mit.edu	37	18	3879505	3879505	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:3879505G>A	ENST00000315677.3	-	4	1159	c.564C>T	c.(562-564)cgC>cgT	p.R188R	DLGAP1_ENST00000584874.1_Silent_p.R188R|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.R188R|DLGAP1_ENST00000515196.2_Silent_p.R188R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	188					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGGCTCCGCGCGCCGCTCCT	0.706																																						uc002kmf.2		NA																	0		p.R188C(1)		ovary(2)|pancreas(1)|skin(1)	4						c.(562-564)CGC>CGT		discs large homolog-associated protein 1 isoform							53.0	63.0	59.0					18																	3879505		2202	4298	6500	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879505G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.564C>T	18.37:g.3879505G>A						DLGAP1_uc010wyz.1_Silent_p.R188R|DLGAP1_uc002kmk.2_Silent_p.R188R|uc002kml.1_Intron	p.R188R	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	631	-		Colorectal(8;0.0257)	188					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.564C>T	CCDS11836.1																																																																																				0.706	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			110	399	0	0	0	0	110	399				
MTCL1	23255	broad.mit.edu	37	18	8825033	8825033	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:8825033G>C	ENST00000306329.11	+	13	4482	c.4482G>C	c.(4480-4482)caG>caC	p.Q1494H	SOGA2_ENST00000400050.3_Missense_Mutation_p.Q1134H|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q1134H|SOGA2_ENST00000359865.3_Missense_Mutation_p.Q1175H|SOGA2_ENST00000518815.1_Missense_Mutation_p.Q500H|SOGA2_ENST00000306285.7_Missense_Mutation_p.Q500H																							AGCACTGCCAGAAGCAGCCAC	0.647																																						uc002knr.2		NA																	0					0						c.(3523-3525)CAG>CAC		hypothetical protein LOC23255							61.0	42.0	48.0					18																	8825033		2174	4262	6436	SO:0001583	missense	23255							g.chr18:8825033G>C																												ENST00000306329.11:c.4482G>C	18.37:g.8825033G>C	ENSP00000305027:p.Gln1494His					KIAA0802_uc002knq.2_Missense_Mutation_p.Q1134H|KIAA0802_uc002kns.2_Missense_Mutation_p.Q515H	p.Q1175H	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			15	3667	+			1485						Missense_Mutation	SNP	ENST00000306329.11	37	c.3525G>C		.	.	.	.	.	.	.	.	.	.	G	15.11	2.735229	0.48939	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.44	4.56	0.56223	.	0.542019	0.15906	N	0.238843	T	0.41236	0.1150	L	0.51422	1.61	0.33792	D	0.62558	D;B	0.69078	0.997;0.107	D;B	0.63597	0.916;0.023	T	0.52734	-0.8536	10	0.46703	T	0.11	-15.8036	11.2939	0.49267	0.0702:0.1278:0.802:0.0	.	1485;1175	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	H	1196;1134;1175;1134;500	ENSP00000429556:Q1134H;ENSP00000352927:Q1175H;ENSP00000382924:Q1134H;ENSP00000303670:Q500H	ENSP00000303670:Q500H	Q	+	3	2	CCDC165	8815033	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.707000	0.54838	1.270000	0.44297	0.650000	0.86243	CAG		0.647	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			4	135	0	0	0	0	4	135				
ATP8B1	5205	broad.mit.edu	37	18	55398973	55398973	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:55398973G>A	ENST00000283684.4	-	1	66	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.P23S			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	23					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCACTGTAGGGAACCACTTCG	0.463																																						uc002lgw.2		NA																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(67-69)CCC>TCC		ATPase, class I, type 8B, member 1							308.0	289.0	296.0					18																	55398973		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55398973G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.67C>T	18.37:g.55398973G>A	ENSP00000283684:p.Pro23Ser					uc002lgv.1_RNA	p.P23S	NM_005603	NP_005594	O43520	AT8B1_HUMAN			1	67	-		Colorectal(73;0.229)	23			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.67C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408369	0.83340	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.27104	1.69;1.69	5.34	5.34	0.76211	.	0.905884	0.09807	N	0.753373	T	0.49762	0.1576	L	0.46157	1.445	0.51012	D	0.999907	D	0.89917	1.0	D	0.83275	0.996	T	0.37009	-0.9724	10	0.62326	D	0.03	.	18.6413	0.91397	0.0:0.0:1.0:0.0	.	23	O43520	AT8B1_HUMAN	S	23	ENSP00000283684:P23S;ENSP00000445359:P23S	ENSP00000283684:P23S	P	-	1	0	ATP8B1	53549971	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.609000	0.74173	2.501000	0.84356	0.655000	0.94253	CCC		0.463	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		13	735	0	0	0	0	13	735				
MALT1	10892	broad.mit.edu	37	18	56411652	56411652	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:56411652G>C	ENST00000348428.3	+	15	2094	c.1836G>C	c.(1834-1836)atG>atC	p.M612I	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.M601I	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	612					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCAATGTCATGATCATCTATA	0.338			T	BIRC3	MALT																																	uc002lhm.1		NA		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1834-1836)ATG>ATC		mucosa associated lymphoid tissue lymphoma							184.0	174.0	177.0					18																	56411652		2202	4299	6501	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56411652G>C		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1836G>C	18.37:g.56411652G>C	ENSP00000319279:p.Met612Ile					MALT1_uc002lhn.1_Missense_Mutation_p.M601I	p.M612I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			15	2094	+			612					Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1836G>C	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356209	0.61293	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.12361	2.7;2.69	5.22	5.22	0.72569	.	0.038038	0.85682	D	0.000000	T	0.27629	0.0679	L	0.58101	1.795	0.44515	D	0.997468	P;P	0.52692	0.955;0.925	P;P	0.52627	0.704;0.509	T	0.00485	-1.1711	10	0.46703	T	0.11	.	18.7367	0.91757	0.0:0.0:1.0:0.0	.	601;612	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	I	612;601	ENSP00000319279:M612I;ENSP00000304161:M601I	ENSP00000304161:M601I	M	+	3	0	MALT1	54562632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.972000	0.63756	2.572000	0.86782	0.591000	0.81541	ATG		0.338	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			6	355	0	0	0	0	6	355				
CNDP2	55748	broad.mit.edu	37	18	72180810	72180810	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:72180810G>A	ENST00000324262.4	+	8	1075	c.759G>A	c.(757-759)aaG>aaA	p.K253K	CNDP2_ENST00000579847.1_Silent_p.K253K|CNDP2_ENST00000324301.8_Silent_p.K169K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	253					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGGTGGACAAGAGGGGGAACA	0.607																																						uc002llm.1		NA																	0				ovary(2)|skin(1)	3						c.(757-759)AAG>AAA		CNDP dipeptidase 2							44.0	40.0	41.0					18																	72180810		2203	4300	6503	SO:0001819	synonymous_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72180810G>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.759G>A	18.37:g.72180810G>A						CNDP2_uc002lln.1_Silent_p.K169K|CNDP2_uc010dqs.2_Intron	p.K253K	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	8	921	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	253					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	c.759G>A	CCDS12006.1																																																																																				0.607	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		22	93	0	0	0	0	22	93				
SALL3	27164	broad.mit.edu	37	18	76753093	76753093	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:76753093G>A	ENST00000537592.2	+	2	1102	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	SALL3_ENST00000536229.3_Missense_Mutation_p.A235T|SALL3_ENST00000575389.2_Missense_Mutation_p.A368T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	368					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCAGACTTCCGCCAGCGGCGT	0.716																																						uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1102-1104)GCC>ACC		sal-like 3							13.0	14.0	14.0					18																	76753093		2174	4257	6431	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753093G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1102G>A	18.37:g.76753093G>A	ENSP00000441823:p.Ala368Thr					SALL3_uc010dra.2_5'UTR	p.A368T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1102	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	368					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1102G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	5.161	0.215291	0.09810	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.09350	2.99	4.37	-0.631	0.11526	.	0.253252	0.27691	N	0.018241	T	0.05914	0.0154	L	0.36672	1.1	0.20196	N	0.99992	B	0.11235	0.004	B	0.04013	0.001	T	0.42068	-0.9473	10	0.11794	T	0.64	-28.9039	4.2452	0.10669	0.1114:0.0775:0.4469:0.3643	.	368	Q9BXA9	SALL3_HUMAN	T	368;368;100	ENSP00000441823:A368T	ENSP00000299466:A368T	A	+	1	0	SALL3	74854081	0.981000	0.34729	0.021000	0.16686	0.006000	0.05464	1.652000	0.37313	-0.265000	0.09352	-1.546000	0.00904	GCC		0.716	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		4	53	0	0	0	0	4	53				
JSRP1	126306	broad.mit.edu	37	19	2254199	2254199	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:2254199C>T	ENST00000300961.6	-	4	313	c.249G>A	c.(247-249)ctG>ctA	p.L83L	JSRP1_ENST00000586471.2_Silent_p.L83L	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	83					protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGGCTTTCAGCCTCTCCT	0.632											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lvi.1		NA																	0				pancreas(1)	1						c.(247-249)CTG>CTA		junctional sarcoplasmic reticulum protein 1							132.0	131.0	131.0					19																	2254199		2203	4300	6503	SO:0001819	synonymous_variant	126306					sarcoplasmic reticulum membrane		g.chr19:2254199C>T	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"""homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"""	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.249G>A	19.37:g.2254199C>T			OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	602	JSRP1_uc002lvj.1_Silent_p.L83L	p.L83L	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	284	-			83						Silent	SNP	ENST00000300961.6	37	c.249G>A	CCDS12086.1																																																																																				0.632	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616		11	531	0	0	0	0	11	531				
LONP1	9361	broad.mit.edu	37	19	5711832	5711832	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:5711832C>G	ENST00000360614.3	-	4	977	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	LONP1_ENST00000540670.2_Missense_Mutation_p.E78Q|LONP1_ENST00000585374.1_Missense_Mutation_p.E160Q|LONP1_ENST00000590729.1_Missense_Mutation_p.E160Q|LONP1_ENST00000593119.1_Missense_Mutation_p.E210Q	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCTCTACCTCCACCATGAGC	0.682																																						uc002mcx.2		NA																	0					0						c.(820-822)GAG>CAG		mitochondrial lon peptidase 1 precursor							85.0	78.0	81.0					19																	5711832		2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5711832C>G	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.820G>C	19.37:g.5711832C>G	ENSP00000353826:p.Glu274Gln					LONP1_uc002mcy.2_Missense_Mutation_p.E210Q|LONP1_uc010duh.2_Missense_Mutation_p.E15Q|LONP1_uc010dui.2_Missense_Mutation_p.E274Q|LONP1_uc002mcz.2_Missense_Mutation_p.E78Q	p.E274Q	NM_004793	NP_004784	P36776	LONM_HUMAN			4	853	-			274			Lon.			Missense_Mutation	SNP	ENST00000360614.3	37	c.820G>C	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873953	0.72180	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.45668	0.89;0.89	4.87	4.87	0.63330	Peptidase S16, lon N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.82517	2.595	0.35515	D	0.800957	D;D;D	0.60160	0.987;0.987;0.987	D;P;D	0.66497	0.925;0.876;0.944	T	0.77169	-0.2686	10	0.54805	T	0.06	-17.9888	15.5045	0.75728	0.0:1.0:0.0:0.0	.	274;210;274	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	Q	274;238;78	ENSP00000353826:E274Q;ENSP00000441523:E78Q	ENSP00000351177:E238Q	E	-	1	0	LONP1	5662832	1.000000	0.71417	0.997000	0.53966	0.566000	0.35808	6.902000	0.75699	2.249000	0.74217	0.555000	0.69702	GAG		0.682	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		8	271	0	0	0	0	8	271				
TRIP10	9322	broad.mit.edu	37	19	6743836	6743836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:6743836C>T	ENST00000313244.9	+	7	666	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	TRIP10_ENST00000600428.1_Nonsense_Mutation_p.Q103*|TRIP10_ENST00000596758.1_Nonsense_Mutation_p.Q211*|TRIP10_ENST00000313285.8_Nonsense_Mutation_p.Q211*			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	211	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ACAGATGCCCCAGATATTCGA	0.498																																						uc002mfs.2		NA																	0				ovary(1)	1						c.(631-633)CAG>TAG		thyroid hormone receptor interactor 10							158.0	152.0	154.0					19																	6743836		2203	4300	6503	SO:0001587	stop_gained	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6743836C>T	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.631C>T	19.37:g.6743836C>T	ENSP00000320117:p.Gln211*					TRIP10_uc010dux.1_Nonsense_Mutation_p.Q211*|TRIP10_uc002mfr.2_Nonsense_Mutation_p.Q211*|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Nonsense_Mutation_p.Q30*	p.Q211*	NM_004240	NP_004231	Q15642	CIP4_HUMAN			7	697	+			211			Induction of membrane tubulation.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Nonsense_Mutation	SNP	ENST00000313244.9	37	c.631C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.196286	0.94960	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	.	.	.	4.78	4.78	0.61160	.	0.151952	0.44688	D	0.000434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-27.7892	13.6758	0.62454	0.0:1.0:0.0:0.0	.	.	.	.	X	211	.	ENSP00000320117:Q211X	Q	+	1	0	TRIP10	6694836	0.998000	0.40836	1.000000	0.80357	0.924000	0.55760	3.812000	0.55628	2.373000	0.80994	0.462000	0.41574	CAG		0.498	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			8	224	0	0	0	0	8	224				
FBN3	84467	broad.mit.edu	37	19	8138080	8138080	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:8138080C>G	ENST00000600128.1	-	62	8218	c.7804G>C	c.(7804-7806)Gat>Cat	p.D2602H	FBN3_ENST00000601739.1_Missense_Mutation_p.D2602H|FBN3_ENST00000270509.2_Missense_Mutation_p.D2602H			Q75N90	FBN3_HUMAN	fibrillin 3	2602	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCTGATCAAAGTCAAAG	0.662																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(7804-7806)GAT>CAT		fibrillin 3 precursor							37.0	43.0	41.0					19																	8138080		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8138080C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7804G>C	19.37:g.8138080C>G	ENSP00000470498:p.Asp2602His					FBN3_uc002mje.2_Missense_Mutation_p.D398H	p.D2602H	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			61	7825	-			2602			EGF-like 43; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7804G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319079	0.41096	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	T	0.21361	2.01	4.39	2.21	0.28008	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.183051	0.46145	U	0.000307	T	0.38268	0.1034	L	0.58969	1.84	0.47441	D	0.999429	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.969	T	0.07366	-1.0776	10	0.72032	D	0.01	.	10.111	0.42563	0.0:0.8315:0.0:0.1685	.	2602;665	Q75N90;Q6ZNB8	FBN3_HUMAN;.	H	2602;665	ENSP00000270509:D2602H	ENSP00000270509:D2602H	D	-	1	0	FBN3	8044080	0.991000	0.36638	0.039000	0.18376	0.071000	0.16799	2.919000	0.48836	0.303000	0.22785	0.561000	0.74099	GAT		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		58	154	0	0	0	0	58	154				
P2RY11	5032	broad.mit.edu	37	19	10227615	10227615	+	IGR	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:10227615C>T	ENST00000321826.4	+	0	1943				EIF3G_ENST00000587168.1_5'Flank|EIF3G_ENST00000253108.4_Silent_p.Q152Q	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ACACGATCTTCTGGCCCTTGA	0.647																																						uc002mnd.2		NA																	0					0						c.(454-456)CAG>CAA		eukaryotic translation initiation factor 3,							79.0	78.0	78.0					19																	10227615		2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10227615C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10227615C>T							p.Q152Q	NM_003755	NP_003746	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		7	520	-			152					B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.456G>A	CCDS12226.1																																																																																				0.647	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		11	294	0	0	0	0	11	294				
DNMT1	1786	broad.mit.edu	37	19	10265371	10265371	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:10265371C>G	ENST00000340748.4	-	20	1910	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	DNMT1_ENST00000359526.4_Missense_Mutation_p.E575Q|DNMT1_ENST00000540357.1_Missense_Mutation_p.E559Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	559	Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCCACCTGCTCCACCACAAAC	0.582																																						uc002mng.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(1675-1677)GAG>CAG		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						54.0	46.0	49.0					19																	10265371		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10265371C>G	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1675G>C	19.37:g.10265371C>G	ENSP00000345739:p.Glu559Gln					DNMT1_uc010xlc.1_Missense_Mutation_p.E575Q|DNMT1_uc002mnh.2_Missense_Mutation_p.E454Q|DNMT1_uc010xld.1_Missense_Mutation_p.E559Q	p.E559Q	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		20	1855	-			559			Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.1675G>C	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362932	0.61403	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.22539	1.95;1.95;1.95	5.61	3.2	0.36748	.	0.163511	0.52532	D	0.000063	T	0.31888	0.0811	L	0.59436	1.845	0.44067	D	0.996816	P;P;P	0.52577	0.954;0.907;0.923	P;P;P	0.56088	0.791;0.733;0.623	T	0.03259	-1.1055	10	0.18710	T	0.47	.	12.1069	0.53818	0.0:0.8965:0.0:0.1035	.	559;575;559	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	Q	575;559;559;427	ENSP00000352516:E575Q;ENSP00000440457:E559Q;ENSP00000345739:E559Q	ENSP00000345739:E559Q	E	-	1	0	DNMT1	10126371	1.000000	0.71417	0.852000	0.33557	0.443000	0.32047	3.611000	0.54132	0.587000	0.29643	0.655000	0.94253	GAG		0.582	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		4	128	0	0	0	0	4	128				
ZNF563	147837	broad.mit.edu	37	19	12430300	12430300	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:12430300G>C	ENST00000293725.5	-	4	744	c.539C>G	c.(538-540)tCt>tGt	p.S180C	ZNF563_ENST00000595977.1_Missense_Mutation_p.S180C	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTCTACGAGAACTGAAGGT	0.433																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NA																	0					0						c.(538-540)TCT>TGT		zinc finger protein 563							200.0	187.0	191.0					19																	12430300		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430300G>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.539C>G	19.37:g.12430300G>C	ENSP00000293725:p.Ser180Cys					ZNF563_uc002mtq.2_Missense_Mutation_p.S180C	p.S180C	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	777	-			180			C2H2-type 2; degenerate.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.539C>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	9.012	0.982660	0.18889	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.20332	2.08	0.814	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25232	0.0613	N	0.26092	0.79	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	T	0.17899	-1.0354	9	0.35671	T	0.21	.	4.7458	0.13036	0.0:0.4062:0.3905:0.2033	.	180;180	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	C	180	ENSP00000293725:S180C	ENSP00000293725:S180C	S	-	2	0	ZNF563	12291300	0.000000	0.05858	0.001000	0.08648	0.637000	0.38172	-6.825000	0.00052	-1.795000	0.01255	-0.676000	0.03789	TCT		0.433	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		8	359	0	0	0	0	8	359				
ZSWIM4	65249	broad.mit.edu	37	19	13941729	13941729	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:13941729C>G	ENST00000254323.2	+	13	3024	c.2835C>G	c.(2833-2835)ttC>ttG	p.F945L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F779L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	945							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCATCGAATTCCTGGGCAAGG	0.612																																						uc002mxh.1		NA																	0				central_nervous_system(2)	2						c.(2833-2835)TTC>TTG		zinc finger, SWIM-type containing 4							44.0	45.0	45.0					19																	13941729		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941729C>G	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2835C>G	19.37:g.13941729C>G	ENSP00000254323:p.Phe945Leu					ZSWIM4_uc010xng.1_Missense_Mutation_p.F868L	p.F945L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	3024	+			945						Missense_Mutation	SNP	ENST00000254323.2	37	c.2835C>G	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547994	0.86022	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.47869	0.83;0.84	4.22	4.22	0.49857	.	0.000000	0.64402	D	0.000009	T	0.66694	0.2815	M	0.75615	2.305	0.52501	D	0.99995	D;P	0.71674	0.998;0.895	D;P	0.76071	0.987;0.907	T	0.68796	-0.5314	10	0.44086	T	0.13	-33.5863	14.0611	0.64800	0.0:1.0:0.0:0.0	.	779;945	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	L	945;779	ENSP00000254323:F945L;ENSP00000405278:F779L	ENSP00000254323:F945L	F	+	3	2	ZSWIM4	13802729	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.855000	0.48333	1.892000	0.54788	0.491000	0.48974	TTC		0.612	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		7	209	0	0	0	0	7	209				
TECR	9524	broad.mit.edu	37	19	14675667	14675667	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:14675667C>T	ENST00000215567.5	+	8	696	c.559C>T	c.(559-561)Cct>Tct	p.P187S	TECR_ENST00000600083.1_Missense_Mutation_p.P32S|TECR_ENST00000596073.1_Missense_Mutation_p.P32S|TECR_ENST00000436007.2_Missense_Mutation_p.P202S	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	187					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						CTACACTCCCCCTAGTAAGTG	0.617																																						uc002mza.2		NA																	0					0						c.(559-561)CCT>TCT		glycoprotein, synaptic 2							119.0	111.0	114.0					19																	14675667		2203	4300	6503	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14675667C>T	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.559C>T	19.37:g.14675667C>T	ENSP00000215567:p.Pro187Ser					TECR_uc002mzb.2_Missense_Mutation_p.P202S|TECR_uc010xns.1_Missense_Mutation_p.P32S|TECR_uc002mzc.2_Missense_Mutation_p.P32S|TECR_uc002mzd.2_Missense_Mutation_p.P187S|TECR_uc002mze.2_Missense_Mutation_p.P13S|TECR_uc002mzf.1_5'Flank	p.P187S	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN			8	686	+			187					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.559C>T	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822083	0.71028	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.27104	1.69;1.69	4.42	4.42	0.53409	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.80508	2.5	0.80722	D	1	D;D;D	0.62365	0.972;0.991;0.972	P;P;P	0.61275	0.886;0.886;0.886	T	0.49214	-0.8963	10	0.72032	D	0.01	-2.4285	8.397	0.32564	0.0:0.8918:0.0:0.1082	.	187;202;187	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	S	187;202	ENSP00000215567:P187S;ENSP00000397206:P202S	ENSP00000215567:P187S	P	+	1	0	TECR	14536667	0.998000	0.40836	0.999000	0.59377	0.500000	0.33767	5.348000	0.66004	2.010000	0.58986	0.555000	0.69702	CCT		0.617	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		9	189	0	0	0	0	9	189				
ILVBL	10994	broad.mit.edu	37	19	15233935	15233935	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:15233935G>C	ENST00000263383.3	-	4	596	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V	ILVBL_ENST00000531635.1_5'UTR|AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Missense_Mutation_p.L46V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	153						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACCTGCAGCAGAGTGCTGGCA	0.627																																						uc002nam.2		NA																	0				ovary(2)	2						c.(457-459)CTG>GTG		ilvB (bacterial acetolactate synthase)-like							59.0	65.0	63.0					19																	15233935		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15233935G>C	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.457C>G	19.37:g.15233935G>C	ENSP00000263383:p.Leu153Val					ILVBL_uc010dzw.2_Missense_Mutation_p.L46V|ILVBL_uc010dzx.1_Missense_Mutation_p.L153V	p.L153V	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN			4	578	-			153					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.457C>G	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100525	0.37048	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.31247	1.5	4.52	0.594	0.17485	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.32436	0.0829	L	0.45581	1.43	0.80722	D	1	P	0.47962	0.903	P	0.53689	0.732	T	0.08493	-1.0719	10	0.16420	T	0.52	-13.9913	9.0823	0.36558	0.311:0.0:0.689:0.0	.	153	A1L0T0	ILVBL_HUMAN	V	153	ENSP00000263383:L153V	ENSP00000263383:L153V	L	-	1	2	ILVBL	15094935	0.727000	0.28069	0.631000	0.29282	0.361000	0.29550	0.957000	0.29215	0.370000	0.24538	0.462000	0.41574	CTG		0.627	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		9	224	0	0	0	0	9	224				
BRD4	23476	broad.mit.edu	37	19	15375245	15375245	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:15375245G>C	ENST00000263377.2	-	6	1403	c.1182C>G	c.(1180-1182)atC>atG	p.I394M	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.I394M|BRD4_ENST00000371835.4_Missense_Mutation_p.I394M	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	394	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGGGTGCTTGATGATGTCAC	0.567			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nar.2		NA		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		0				ovary(2)	2						c.(1180-1182)ATC>ATG		bromodomain-containing protein 4 isoform long							174.0	155.0	161.0					19																	15375245		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15375245G>C	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1182C>G	19.37:g.15375245G>C	ENSP00000263377:p.Ile394Met		OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	702	BRD4_uc002nas.2_Missense_Mutation_p.I394M|BRD4_uc002nat.3_Missense_Mutation_p.I394M|BRD4_uc002nau.3_Missense_Mutation_p.I394M	p.I394M	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		6	1404	-			394			Bromo 2.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1182C>G	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482337	0.63962	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.40476	1.03;1.03;1.03	5.21	4.15	0.48705	Bromodomain (5);	0.000000	0.64402	D	0.000009	T	0.75657	0.3879	H	0.98682	4.3	0.48696	D	0.99969	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.97110	0.999;1.0;0.998	T	0.82053	-0.0648	10	0.87932	D	0	-19.3918	10.1489	0.42780	0.166:0.0:0.834:0.0	.	394;394;394	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	M	394	ENSP00000263377:I394M;ENSP00000360901:I394M;ENSP00000353112:I394M	ENSP00000263377:I394M	I	-	3	3	BRD4	15236245	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.510000	0.22723	1.175000	0.42826	0.563000	0.77884	ATC		0.567	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		13	351	0	0	0	0	13	351				
CILP2	148113	broad.mit.edu	37	19	19656685	19656685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:19656685C>T	ENST00000291495.5	+	8	3416	c.3331C>T	c.(3331-3333)Cga>Tga	p.R1111*	CILP2_ENST00000586018.1_Nonsense_Mutation_p.R1117*	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1111						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCGGCCGGACGACCCAGCCT	0.672																																						uc002nmv.3		NA																	0				ovary(1)	1						c.(3331-3333)CGA>TGA		cartilage intermediate layer protein 2							9.0	10.0	10.0					19																	19656685		2038	4045	6083	SO:0001587	stop_gained	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656685C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.3331C>T	19.37:g.19656685C>T	ENSP00000291495:p.Arg1111*					CILP2_uc002nmw.3_Nonsense_Mutation_p.R1117*	p.R1111*	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	3416	+			1111					Q6NV88|Q8N4A6|Q8WV21	Nonsense_Mutation	SNP	ENST00000291495.5	37	c.3331C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	37	6.405813	0.97542	.	.	ENSG00000160161	ENST00000291495	.	.	.	4.25	4.25	0.50352	.	0.116572	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.0493	14.214	0.65781	0.0:1.0:0.0:0.0	.	.	.	.	X	1111	.	ENSP00000291495:R1111X	R	+	1	2	CILP2	19517685	0.185000	0.23213	0.967000	0.41034	0.294000	0.27393	0.727000	0.25999	1.943000	0.56356	0.555000	0.69702	CGA		0.672	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		5	16	0	0	0	0	5	16				
ZNF493	284443	broad.mit.edu	37	19	21606544	21606544	+	Silent	SNP	C	C	T	rs563481308	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:21606544C>T	ENST00000355504.4	+	2	965	c.699C>T	c.(697-699)tcC>tcT	p.S233S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S361S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCCTCACACCTTA	0.358													.|||	2	0.000399361	0.0	0.0014	5008	,	,		18685	0.001		0.0	False		,,,				2504	0.0					uc002npx.2		NA																	0				ovary(1)	1						c.(697-699)TCC>TCT		zinc finger protein 493 isoform 1							48.0	53.0	51.0					19																	21606544		2202	4296	6498	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606544C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.699C>T	19.37:g.21606544C>T						ZNF493_uc002npw.2_Silent_p.S361S|ZNF493_uc002npy.2_Silent_p.S233S	p.S233S	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	979	+			233			C2H2-type 8; degenerate.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.699C>T	CCDS12412.1																																																																																				0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	196	0	0	0	0	4	196				
ZNF91	7644	broad.mit.edu	37	19	23544861	23544861	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:23544861G>A	ENST00000300619.7	-	4	1125	c.920C>T	c.(919-921)tCa>tTa	p.S307L	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S275L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAATGGCT	0.403																																						uc002nre.2		NA																	0					0						c.(919-921)TCA>TTA		zinc finger protein 91							76.0	79.0	78.0					19																	23544861		2173	4285	6458	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544861G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.920C>T	19.37:g.23544861G>A	ENSP00000300619:p.Ser307Leu					ZNF91_uc010xrj.1_Missense_Mutation_p.S275L	p.S307L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1033	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	307			C2H2-type 6.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.920C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701103	0.30142	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01705	4.68;4.68	1.97	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	M	0.75777	2.31	0.09310	N	1	P;P	0.52061	0.82;0.95	B;B	0.39258	0.295;0.199	T	0.41197	-0.9522	9	0.66056	D	0.02	.	10.9757	0.47465	0.0:0.0:1.0:0.0	.	275;307	Q05481-2;Q05481	.;ZNF91_HUMAN	L	307;275	ENSP00000300619:S307L;ENSP00000380272:S275L	ENSP00000300619:S307L	S	-	2	0	ZNF91	23336701	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.758000	0.26447	1.100000	0.41517	0.162000	0.16502	TCA		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		10	296	0	0	0	0	10	296				
MAG	4099	broad.mit.edu	37	19	35786781	35786781	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:35786781C>G	ENST00000392213.3	+	4	471	c.312C>G	c.(310-312)ctC>ctG	p.L104L	MAG_ENST00000537831.2_Silent_p.L79L|MAG_ENST00000597035.1_Intron|MAG_ENST00000361922.4_Silent_p.L104L	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	104	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTCCTGCTCAGCAACGTCA	0.642																																						uc002nyy.1		NA																	0				breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(310-312)CTC>CTG		myelin associated glycoprotein isoform a							96.0	102.0	100.0					19																	35786781		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786781C>G	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.312C>G	19.37:g.35786781C>G						MAG_uc002nyx.1_Silent_p.L104L|MAG_uc010eds.1_Silent_p.L79L|MAG_uc002nyz.1_Silent_p.L104L	p.L104L	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	461	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	104			Ig-like V-type.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.312C>G	CCDS12455.1																																																																																				0.642	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		10	562	0	0	0	0	10	562				
CAPNS1	826	broad.mit.edu	37	19	36637120	36637120	+	Silent	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:36637120C>A	ENST00000246533.3	+	9	1225	c.627C>A	c.(625-627)ctC>ctA	p.L209L	CAPNS1_ENST00000587718.1_Silent_p.L209L|CAPNS1_ENST00000590874.1_Silent_p.L179L|CAPNS1_ENST00000588815.1_Silent_p.L209L|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Silent_p.L219L|CAPNS1_ENST00000589146.1_Silent_p.L35L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	209	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATGAGCATCTCTATAACATGA	0.537																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	uc002odj.2		NA																	0					0						c.(625-627)CTC>CTA		calpain, small subunit 1							237.0	226.0	230.0					19																	36637120		2203	4300	6503	SO:0001819	synonymous_variant	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36637120C>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.627C>A	19.37:g.36637120C>A						CAPNS1_uc002odi.1_Silent_p.L209L|CAPNS1_uc002odk.2_Silent_p.L209L|CAPNS1_uc002odl.2_Silent_p.L209L	p.L209L	NM_001749	NP_001740	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	784	+	Esophageal squamous(110;0.162)		209			EF-hand 4.		A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	c.627C>A	CCDS12489.1																																																																																				0.537	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			9	619	1	0	0.000442599	0.000451217	9	619				
PLEKHG2	64857	broad.mit.edu	37	19	39914871	39914871	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:39914871C>T	ENST00000409794.3	+	19	3948	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.S1004L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S974L|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1033					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCACAGTTTCAGTCACCACC	0.547																																						uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(3097-3099)TCA>TTA		common-site lymphoma/leukemia guanine nucleotide							126.0	115.0	119.0					19																	39914871		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914871C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3098C>T	19.37:g.39914871C>T	ENSP00000386733:p.Ser1033Leu					PLEKHG2_uc010xuy.1_Missense_Mutation_p.S974L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.S811L	p.S1033L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	3423	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1033					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.3098C>T	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.50|12.50	1.956023|1.956023	0.34471|0.34471	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.65916	.|-0.05;-0.05;-0.18	3.08|3.08	-3.41|-3.41	0.04839|0.04839	.|.	.|1.788450	.|0.03467	.|N	.|0.213043	.|T	.|0.48003	.|0.1476	L|L	0.31420|0.31420	0.93|0.93	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.0	.|T	.|0.27640	.|-1.0068	.|10	.|0.28530	.|T	.|0.3	.|.	9.007|9.007	0.36117|0.36117	0.0:0.6787:0.0:0.3213|0.0:0.6787:0.0:0.3213	.|.	.|1004;1033;974	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	X|L	901|1033;1004;974	.|ENSP00000386733:S1033L;ENSP00000392906:S1004L;ENSP00000408857:S974L	.|ENSP00000386733:S1033L	Q|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44606711|44606711	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.725000|0.725000	0.41563|0.41563	-0.142000|-0.142000	0.10311|0.10311	-0.739000|-0.739000	0.04809|0.04809	0.491000|0.491000	0.48974|0.48974	CAG|TCA		0.547	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		10	292	0	0	0	0	10	292				
SNRPD2	6633	broad.mit.edu	37	19	46190931	46190931	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46190931C>G	ENST00000342669.3	-	3	681	c.237G>C	c.(235-237)aaG>aaC	p.K79N	SNRPD2_ENST00000391932.3_Missense_Mutation_p.K69N|SNRPD2_ENST00000587367.1_Missense_Mutation_p.K69N|SNRPD2_ENST00000588301.1_Missense_Mutation_p.K79N|SNRPD2_ENST00000588599.1_Missense_Mutation_p.K69N|SNRPD2_ENST00000585392.1_Missense_Mutation_p.K15N|SNRPD2_ENST00000590212.1_3'UTR	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	79					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CCTTGCCACTCTTGGGTACCT	0.597																																						uc002pcw.2		NA																	0					0						c.(235-237)AAG>AAC		small nuclear ribonucleoprotein D2 isoform 1							153.0	116.0	128.0					19																	46190931		2203	4300	6503	SO:0001583	missense	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46190931C>G		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.237G>C	19.37:g.46190931C>G	ENSP00000342374:p.Lys79Asn					SNRPD2_uc002pcv.2_Missense_Mutation_p.K69N	p.K79N	NM_004597	NP_004588	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	3	534	-		Ovarian(192;0.051)|all_neural(266;0.112)	79					A8K797|J3KPM5|P43330	Missense_Mutation	SNP	ENST00000342669.3	37	c.237G>C	CCDS33053.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850403	0.71719	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	.	.	.	5.82	2.54	0.30619	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	M	0.86268	2.805	0.80722	D	1	D	0.67145	0.996	P	0.62089	0.898	T	0.77587	-0.2532	9	0.62326	D	0.03	.	9.8618	0.41118	0.0:0.7697:0.0:0.2303	.	79	P62316	SMD2_HUMAN	N	79;69	.	ENSP00000342374:K79N	K	-	3	2	SNRPD2	50882771	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.444000	0.35068	0.811000	0.34303	-0.140000	0.14226	AAG		0.597	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		5	208	0	0	0	0	5	208				
IRF2BP1	26145	broad.mit.edu	37	19	46387755	46387755	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46387755C>T	ENST00000302165.3	-	1	1621	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCACATTCTTCAGGGCGGCAA	0.716																																						uc002pds.1		NA																	0					0						c.(1276-1278)CTG>CTA		interferon regulatory factor 2 binding protein							14.0	17.0	16.0					19																	46387755		2116	4142	6258	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387755C>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1278G>A	19.37:g.46387755C>T							p.L426L	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1622	-		all_neural(266;0.113)|Ovarian(192;0.127)	426					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.1278G>A	CCDS12678.1																																																																																				0.716	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		4	114	0	0	0	0	4	114				
IGFL3	388555	broad.mit.edu	37	19	46627533	46627533	+	Missense_Mutation	SNP	C	C	T	rs148630126		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46627533C>T	ENST00000341415.2	-	2	95	c.71G>A	c.(70-72)gGa>gAa	p.G24E	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	24						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACCTGTAGTTCCTTTTGAACA	0.453																																						uc002pea.1		NA																	0					0						c.(70-72)GGA>GAA		IGF-like family member 3 precursor		C	GLU/GLY	1,4371	2.1+/-5.4	0,1,2185	110.0	78.0	89.0		71	-2.5	0.0	19	dbSNP_134	89	0,8600		0,0,4300	no	missense	IGFL3	NM_207393.1	98	0,1,6485	TT,TC,CC		0.0,0.0229,0.0077	possibly-damaging	24/126	46627533	1,12971	2186	4300	6486	SO:0001583	missense	388555					extracellular region	protein binding	g.chr19:46627533C>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.71G>A	19.37:g.46627533C>T	ENSP00000344860:p.Gly24Glu						p.G24E	NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	2	96	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	24						Missense_Mutation	SNP	ENST00000341415.2	37	c.71G>A	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	C	0.966	-0.701795	0.03255	2.29E-4	0.0	ENSG00000188624	ENST00000341415	T	0.29397	1.57	1.26	-2.51	0.06365	.	.	.	.	.	T	0.24198	0.0586	L	0.43923	1.385	0.09310	N	1	P	0.43352	0.804	B	0.43301	0.415	T	0.09509	-1.0671	9	0.52906	T	0.07	-0.0091	4.4991	0.11855	0.2725:0.3168:0.4107:0.0	.	24	Q6UXB1	IGFL3_HUMAN	E	24	ENSP00000344860:G24E	ENSP00000344860:G24E	G	-	2	0	IGFL3	51319373	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.306000	0.02735	-2.656000	0.00421	-1.892000	0.00534	GGA		0.453	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		8	125	0	0	0	0	8	125				
SLC8A2	6543	broad.mit.edu	37	19	47951487	47951487	+	Splice_Site	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:47951487C>G	ENST00000236877.6	-	4	1737	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	SLC8A2_ENST00000542837.1_Splice_Site_p.E204Q|SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	448	Calx-beta 1.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGCGTGCCCTCGCTGCGGCGG	0.637																																						uc002pgx.2		NA																	0				skin(3)|ovary(1)	4						c.(1342-1344)GAG>CAG		solute carrier family 8 member 2 precursor							25.0	22.0	23.0					19																	47951487		2197	4281	6478	SO:0001630	splice_region_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47951487C>G	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1341-1G>C	19.37:g.47951487C>G						SLC8A2_uc010xyq.1_Missense_Mutation_p.E204Q|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E448Q	p.E448Q	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	4	1620	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	448			Calx-beta 1.|Cytoplasmic (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.1342G>C	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703637	0.68501	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000542837	T;T	0.27720	1.65;1.65	4.05	4.05	0.47172	Na-Ca exchanger/integrin-beta4 (2);	0.220504	0.37955	N	0.001868	T	0.56470	0.1987	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;0.969	D;P	0.87578	0.998;0.718	T	0.62872	-0.6762	10	0.62326	D	0.03	.	15.5317	0.75968	0.0:1.0:0.0:0.0	.	276;448	E9PGS7;Q9UPR5	.;NAC2_HUMAN	Q	276;448;204	ENSP00000236877:E448Q;ENSP00000437536:E204Q	ENSP00000236877:E448Q	E	-	1	0	SLC8A2	52643299	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.485000	0.81204	2.259000	0.74868	0.561000	0.74099	GAG		0.637	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		Missense_Mutation	5	104	0	0	0	0	5	104				
CRX	1406	broad.mit.edu	37	19	48342644	48342644	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:48342644C>G	ENST00000221996.7	+	4	526	c.320C>G	c.(319-321)cCc>cGc	p.P107R	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.P107R	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	107					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		cagcagcagcCCCCAGGGGGC	0.627																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(319-321)CCC>CGC		cone-rod homeobox protein							41.0	49.0	46.0					19																	48342644		2202	4299	6501	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342644C>G	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.320C>G	19.37:g.48342644C>G	ENSP00000221996:p.Pro107Arg						p.P107R	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	524	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	107					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.320C>G	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	9.337	1.062148	0.19987	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90197	-2.63;-2.63	3.86	2.78	0.32641	.	0.611095	0.13798	N	0.362046	D	0.85017	0.5601	L	0.44542	1.39	0.09310	N	1	D	0.59357	0.985	P	0.45538	0.484	T	0.74586	-0.3616	10	0.12430	T	0.62	-11.6326	7.5486	0.27781	0.0:0.8758:0.0:0.1242	.	107	O43186	CRX_HUMAN	R	107	ENSP00000221996:P107R;ENSP00000445565:P107R	ENSP00000221996:P107R	P	+	2	0	CRX	53034456	0.965000	0.33210	0.550000	0.28217	0.978000	0.69477	2.239000	0.43079	1.982000	0.57802	0.460000	0.39030	CCC		0.627	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		11	268	0	0	0	0	11	268				
LMTK3	114783	broad.mit.edu	37	19	49001313	49001313	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49001313C>T	ENST00000600059.1	-	11	3240	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1034K			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1005	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCCCATTCTCTGACACCTTG	0.647																																						uc002pjk.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(3100-3102)GAG>AAG		lemur tyrosine kinase 3							68.0	72.0	71.0					19																	49001313		1904	4106	6010	SO:0001583	missense	114783							g.chr19:49001313C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3013G>A	19.37:g.49001313C>T	ENSP00000472020:p.Glu1005Lys						p.E1034K	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	12	3100	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.3100G>A		.	.	.	.	.	.	.	.	.	.	C	13.74	2.327417	0.41197	.	.	ENSG00000142235	ENST00000270238	D	0.82619	-1.63	4.14	3.1	0.35709	.	0.102069	0.33691	N	0.004652	T	0.67618	0.2912	N	0.19112	0.55	0.23361	N	0.997835	B	0.02656	0.0	B	0.01281	0.0	T	0.52852	-0.8520	10	0.26408	T	0.33	.	7.9756	0.30153	0.0:0.8813:0.0:0.1187	.	1005	Q96Q04	LMTK3_HUMAN	K	1034	ENSP00000270238:E1034K	ENSP00000270238:E1034K	E	-	1	0	LMTK3	53693125	0.999000	0.42202	0.791000	0.31998	0.974000	0.67602	3.237000	0.51344	0.875000	0.35847	0.305000	0.20034	GAG		0.647	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		10	365	0	0	0	0	10	365				
LMTK3	114783	broad.mit.edu	37	19	49001325	49001325	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49001325C>T	ENST00000600059.1	-	11	3228	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	LMTK3_ENST00000270238.3_Missense_Mutation_p.D1030N			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1001	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACACCTTGTCCTCGCTCTTT	0.642																																						uc002pjk.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(3088-3090)GAC>AAC		lemur tyrosine kinase 3							79.0	84.0	82.0					19																	49001325		1921	4114	6035	SO:0001583	missense	114783							g.chr19:49001325C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3001G>A	19.37:g.49001325C>T	ENSP00000472020:p.Asp1001Asn						p.D1030N	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	12	3088	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.3088G>A		.	.	.	.	.	.	.	.	.	.	C	13.50	2.254835	0.39896	.	.	ENSG00000142235	ENST00000270238	T	0.76839	-1.05	4.14	1.94	0.25998	.	0.470122	0.18676	N	0.134292	T	0.54224	0.1845	N	0.14661	0.345	0.20975	N	0.999818	B	0.23058	0.079	B	0.16289	0.015	T	0.32188	-0.9916	10	0.16896	T	0.51	.	6.1015	0.20049	0.0:0.7592:0.0:0.2408	.	1001	Q96Q04	LMTK3_HUMAN	N	1030	ENSP00000270238:D1030N	ENSP00000270238:D1030N	D	-	1	0	LMTK3	53693137	0.001000	0.12720	1.000000	0.80357	0.926000	0.56050	0.324000	0.19610	0.870000	0.35726	0.305000	0.20034	GAC		0.642	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		9	428	0	0	0	0	9	428				
PPFIA3	8541	broad.mit.edu	37	19	49636556	49636556	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49636556G>C	ENST00000334186.4	+	9	1438	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.Q363H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	363					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCTGCAGCAGACGCTGCAGA	0.682																																						uc002pmr.2		NA																	0				lung(1)	1						c.(1087-1089)CAG>CAC		PTPRF interacting protein alpha 3							29.0	32.0	31.0					19																	49636556		2197	4289	6486	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49636556G>C	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1089G>C	19.37:g.49636556G>C	ENSP00000335614:p.Gln363His					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.Q287H|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.Q231H	p.Q363H	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	9	1421	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	363			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.1089G>C	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887967	0.72410	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.37235	1.21	3.91	2.87	0.33458	.	0.141093	0.30911	N	0.008630	T	0.60728	0.2291	M	0.88181	2.935	0.42026	D	0.991003	D;D;P	0.63880	0.983;0.993;0.81	P;D;P	0.66602	0.849;0.945;0.642	T	0.67432	-0.5672	10	0.87932	D	0	-19.7585	10.3607	0.43991	0.0999:0.0:0.9001:0.0	.	287;363;363	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	H	363;287	ENSP00000335614:Q363H	ENSP00000335614:Q363H	Q	+	3	2	PPFIA3	54328368	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.264000	0.43302	1.012000	0.39366	0.555000	0.69702	CAG		0.682	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		6	118	0	0	0	0	6	118				
HRC	3270	broad.mit.edu	37	19	49658238	49658238	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49658238G>C	ENST00000252825.4	-	1	443	c.257C>G	c.(256-258)cCa>cGa	p.P86R	TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000355712.5_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.P86R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	86					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCACGGTCTGGGTGGCTCCA	0.537																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	0				ovary(1)	1						c.(256-258)CCA>CGA		histidine rich calcium binding protein							204.0	162.0	176.0					19																	49658238		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658238G>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.257C>G	19.37:g.49658238G>C	ENSP00000252825:p.Pro86Arg					TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	p.P86R	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	444	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	86					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.257C>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.817776	0.00595	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.05786	3.39	2.87	1.81	0.25067	.	.	.	.	.	T	0.02418	0.0074	N	0.01668	-0.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	9	0.21014	T	0.42	0.1351	9.7507	0.40475	0.0:0.7717:0.2283:0.0	.	86	P23327	SRCH_HUMAN	R	86;56	ENSP00000252825:P86R	ENSP00000252825:P86R	P	-	2	0	HRC	54350050	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.264000	0.08658	0.753000	0.32945	-0.479000	0.04858	CCA		0.537	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		13	344	0	0	0	0	13	344				
KLK9	284366	broad.mit.edu	37	19	51506440	51506440	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:51506440C>T	ENST00000594211.1	-	5	680	c.680G>A	c.(679-681)aGa>aAa	p.R227K	KLK8_ENST00000600767.1_5'Flank|KLK8_ENST00000347619.4_5'Flank|KLK8_ENST00000593490.1_5'Flank|KLK8_ENST00000291726.7_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_5'Flank|KLK8_ENST00000391806.2_5'Flank|KLK9_ENST00000376832.4_Missense_Mutation_p.R227K|KLK9_ENST00000250366.6_Missense_Mutation_p.R227K			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	227	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCGCCGGGGTCTGGAGCAGGG	0.642																																						uc002pux.1		NA																	0				central_nervous_system(1)	1						c.(679-681)AGA>AAA		kallikrein-related peptidase 9 precursor							63.0	67.0	66.0					19																	51506440		2203	4300	6503	SO:0001583	missense	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51506440C>T	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.680G>A	19.37:g.51506440C>T	ENSP00000469417:p.Arg227Lys					KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.R198K|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'UTR|KLK9_uc002puv.1_RNA	p.R227K	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	5	767	-		all_neural(266;0.0652)	227			Peptidase S1.		Q6QA55	Missense_Mutation	SNP	ENST00000594211.1	37	c.680G>A	CCDS12816.1	.	.	.	.	.	.	.	.	.	.	C	0.163	-1.078791	0.01903	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	D;D	0.88201	-2.35;-2.35	4.37	1.05	0.20165	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.79125	0.4393	L	0.31157	0.91	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.68405	-0.5417	9	0.33141	T	0.24	.	6.1073	0.20081	0.0:0.6:0.0:0.4	.	227;227	Q2XQG6;Q9UKQ9	.;KLK9_HUMAN	K	227	ENSP00000366028:R227K;ENSP00000250366:R227K	ENSP00000250366:R227K	R	-	2	0	KLK9	56198252	0.165000	0.22948	0.985000	0.45067	0.176000	0.22953	-0.198000	0.09505	0.587000	0.29643	-0.265000	0.10407	AGA		0.642	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315		96	219	0	0	0	0	96	219				
SIGLEC8	27181	broad.mit.edu	37	19	51955701	51955701	+	Nonsense_Mutation	SNP	G	G	A	rs370177010		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:51955701G>A	ENST00000321424.3	-	7	1498	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*	SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.R385*|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.R369*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	478					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAGTTTCTCGCTTGTGGATC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19354	0.0		0.0	False		,,,				2504	0.0					uc002pwt.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1432-1434)CGA>TGA		sialic acid binding Ig-like lectin 8 precursor		G	stop/ARG	0,4406		0,0,2203	132.0	119.0	124.0		1432	-0.4	0.0	19		124	1,8599		0,1,4299	no	stop-gained	SIGLEC8	NM_014442.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		478/500	51955701	1,13005	2203	4300	6503	SO:0001587	stop_gained	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51955701G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1432C>T	19.37:g.51955701G>A	ENSP00000321077:p.Arg478*					SIGLEC8_uc010yda.1_Nonsense_Mutation_p.R369*|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R385*	p.R478*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	7	1499	-		all_neural(266;0.0199)	478			Cytoplasmic (Potential).		Q7Z728	Nonsense_Mutation	SNP	ENST00000321424.3	37	c.1432C>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	15.52	2.857726	0.51376	0.0	1.16E-4	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	.	.	.	1.96	-0.39	0.12450	.	.	.	.	.	.	.	.	.	.	.	0.49051	D	0.999748	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6668	0.05054	0.5506:0.275:0.1744:0.0	.	.	.	.	X	369;478;385	.	ENSP00000321077:R478X	R	-	1	2	SIGLEC8	56647513	0.002000	0.14202	0.002000	0.10522	0.081000	0.17604	-0.091000	0.11146	-0.197000	0.10350	-2.189000	0.00312	CGA		0.517	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		73	255	0	0	0	0	73	255				
SIGLEC6	946	broad.mit.edu	37	19	52033951	52033951	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:52033951G>C	ENST00000425629.3	-	3	844	c.690C>G	c.(688-690)atC>atG	p.I230M	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.I230M|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.I194M|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.I219M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.I230M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.I230M|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	230	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CATTGAGCTGGATGGTTCTCT	0.637																																						uc002pwy.2		NA																	0				ovary(1)	1						c.(688-690)ATC>ATG		sialic acid binding Ig-like lectin 6 isoform 1							68.0	75.0	73.0					19																	52033951		2198	4299	6497	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033951G>C	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.690C>G	19.37:g.52033951G>C	ENSP00000401502:p.Ile230Met					SIGLEC6_uc002pwz.2_Missense_Mutation_p.I230M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.I230M|SIGLEC6_uc010ydb.1_Missense_Mutation_p.I183M|SIGLEC6_uc010ydc.1_Missense_Mutation_p.I219M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.I208M|SIGLEC6_uc010epb.1_Missense_Mutation_p.I183M|SIGLEC6_uc010epa.1_Missense_Mutation_p.I219M	p.I230M	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	852	-		all_neural(266;0.0199)	230			Ig-like C2-type 1.|Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.690C>G	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870768	0.33069	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.03413	3.94;3.94;3.94;3.94	3.6	-0.0186	0.13963	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220649	0.22770	N	0.055856	T	0.16385	0.0394	M	0.91196	3.185	0.09310	N	1	D;D;D;D;D;D	0.89917	0.984;0.999;0.968;1.0;0.999;1.0	D;D;D;D;D;D	0.77557	0.939;0.977;0.917;0.99;0.981;0.977	T	0.04767	-1.0928	10	0.87932	D	0	.	3.932	0.09290	0.2344:0.1982:0.5673:0.0	.	230;194;219;230;230;230	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	M	219;230;230;230;194;230	ENSP00000401502:I230M;ENSP00000353071:I230M;ENSP00000410679:I194M;ENSP00000345907:I230M	ENSP00000345907:I230M	I	-	3	3	SIGLEC6	56725763	0.152000	0.22762	0.005000	0.12908	0.045000	0.14185	0.613000	0.24299	0.006000	0.14734	-0.217000	0.12591	ATC		0.637	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		9	272	0	0	0	0	9	272				
ZNF480	147657	broad.mit.edu	37	19	52825764	52825764	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:52825764C>G	ENST00000595962.1	+	5	1327	c.1261C>G	c.(1261-1263)Cat>Gat	p.H421D	ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.H378D|ZNF480_ENST00000335090.6_Missense_Mutation_p.H344D	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCGAAGAATTCATACTGGAGA	0.373																																						uc010ydl.1		NA																	0				large_intestine(1)	1						c.(1261-1263)CAT>GAT		zinc finger protein 480							91.0	96.0	94.0					19																	52825764		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825764C>G	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1261C>G	19.37:g.52825764C>G	ENSP00000471754:p.His421Asp					ZNF480_uc002pyv.2_Missense_Mutation_p.H344D|ZNF480_uc010ydm.1_Missense_Mutation_p.H378D|ZNF480_uc010epn.2_Missense_Mutation_p.H252D|uc002pyw.1_Intron	p.H421D	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1331	+			421			C2H2-type 8.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.1261C>G	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	8.467	0.856604	0.17106	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.67698	-0.28;-0.28;-0.28	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86397	0.5923	H	0.96662	3.86	0.30876	N	0.731963	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.84831	0.0802	9	0.87932	D	0	.	11.5389	0.50655	0.0:1.0:0.0:0.0	.	378;421	F8WEZ9;Q8WV37	.;ZN480_HUMAN	D	421;378;344	ENSP00000417424:H421D;ENSP00000334164:H378D;ENSP00000335670:H344D	ENSP00000334164:H378D	H	+	1	0	ZNF480	57517576	0.971000	0.33674	0.013000	0.15412	0.103000	0.19146	4.432000	0.59922	1.225000	0.43566	0.461000	0.40582	CAT		0.373	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		9	236	0	0	0	0	9	236				
TPO	7173	broad.mit.edu	37	2	1497617	1497617	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:1497617G>A	ENST00000345913.4	+	11	1903	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	TPO_ENST00000349624.3_Silent_p.E431E|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Silent_p.E547E|TPO_ENST00000382198.1_Silent_p.E431E|TPO_ENST00000329066.4_Silent_p.E604E|TPO_ENST00000346956.3_Silent_p.E604E|TPO_ENST00000337415.3_Silent_p.E604E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	604					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCGCCTGGAGACCCCCGCTG	0.587																																						uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1810-1812)GAG>GAA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						55.0	50.0	52.0					2																	1497617		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497617G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1812G>A	2.37:g.1497617G>A						TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.E547E|TPO_uc002qwr.2_Silent_p.E604E|TPO_uc002qwx.2_Silent_p.E547E|TPO_uc010yio.1_Silent_p.E431E|TPO_uc010yip.1_Silent_p.E604E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	p.E604E	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1903	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	604			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1812G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	0.939	-0.710189	0.03230	.	.	ENSG00000115705	ENST00000446278	.	.	.	4.84	2.99	0.34606	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52563	-0.8559	4	.	.	.	-9.865	9.3657	0.38223	0.0808:0.2722:0.6469:0.0	.	.	.	.	K	79	.	.	R	+	2	0	TPO	1476624	0.266000	0.24112	0.491000	0.27477	0.148000	0.21650	0.321000	0.19558	0.532000	0.28657	0.561000	0.74099	AGA		0.587	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		28	35	0	0	0	0	28	35				
ODC1	4953	broad.mit.edu	37	2	10582007	10582007	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:10582007C>T	ENST00000234111.4	-	10	1472	c.962G>A	c.(961-963)gGc>gAc	p.G321D	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Missense_Mutation_p.G321D	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	TCCATAGACGCCATCATTCAC	0.373																																						uc010exg.1		NA																	0				ovary(1)	1						c.(961-963)GGC>GAC		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						174.0	169.0	171.0					2																	10582007		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582007C>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.962G>A	2.37:g.10582007C>T	ENSP00000234111:p.Gly321Asp					ODC1_uc002ran.1_Missense_Mutation_p.G7D|ODC1_uc002rao.1_Missense_Mutation_p.G321D|ODC1_uc010yjd.1_Missense_Mutation_p.G191D	p.G321D	NM_002539	NP_002530	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	10	1396	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		321					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.962G>A	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943416	0.92593	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.59502	0.26;0.26	5.65	5.65	0.86999	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86087	0.5849	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90924	0.4785	10	0.87932	D	0	.	19.7398	0.96223	0.0:1.0:0.0:0.0	.	321	P11926	DCOR_HUMAN	D	321;321;192	ENSP00000234111:G321D;ENSP00000385333:G321D	ENSP00000234111:G321D	G	-	2	0	ODC1	10499458	1.000000	0.71417	0.478000	0.27316	0.816000	0.46133	7.622000	0.83099	2.660000	0.90430	0.655000	0.94253	GGC		0.373	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			92	149	0	0	0	0	92	149				
LAPTM4A	9741	broad.mit.edu	37	2	20240727	20240727	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:20240727G>A	ENST00000175091.4	-	2	664	c.157C>T	c.(157-159)Cat>Tat	p.H53Y		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	53					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTTGGATGAGTCACTTCC	0.368																																					Ovarian(90;1240 1386 7711 14384 46863)	uc002rdm.2		NA																	0				ovary(1)	1						c.(157-159)CAT>TAT		lysosomal protein transmembrane 4 alpha							143.0	131.0	135.0					2																	20240727		2203	4300	6503	SO:0001583	missense	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20240727G>A	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.157C>T	2.37:g.20240727G>A	ENSP00000175091:p.His53Tyr					LAPTM4A_uc002rdn.2_Missense_Mutation_p.H11Y|LAPTM4A_uc010yjx.1_Missense_Mutation_p.H53Y	p.H53Y	NM_014713	NP_055528	Q15012	LAP4A_HUMAN			2	665	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		53					Q6UW22	Missense_Mutation	SNP	ENST00000175091.4	37	c.157C>T	CCDS1696.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506152	0.64410	.	.	ENSG00000068697	ENST00000175091	T	0.49432	0.78	5.99	5.99	0.97316	.	0.046840	0.85682	D	0.000000	T	0.39384	0.1076	L	0.31294	0.92	0.80722	D	1	B;B	0.22080	0.031;0.064	B;B	0.20767	0.008;0.031	T	0.09530	-1.0670	10	0.30078	T	0.28	-9.7268	17.6337	0.88116	0.0:0.0:1.0:0.0	.	53;53	B4E2U6;Q15012	.;LAP4A_HUMAN	Y	53	ENSP00000175091:H53Y	ENSP00000175091:H53Y	H	-	1	0	LAPTM4A	20104208	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.435000	0.97529	2.840000	0.97914	0.655000	0.94253	CAT		0.368	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713		9	157	0	0	0	0	9	157				
ATAD2B	54454	broad.mit.edu	37	2	24033258	24033258	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:24033258G>C	ENST00000238789.5	-	18	2725	c.2382C>G	c.(2380-2382)ttC>ttG	p.F794L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	794						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGCACAGAGAATCTTTCTA	0.478																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(2380-2382)TTC>TTG		ATPase family, AAA domain containing 2B							90.0	93.0	92.0					2																	24033258		1925	4133	6058	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24033258G>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2382C>G	2.37:g.24033258G>C	ENSP00000238789:p.Phe794Leu					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.F39L|ATAD2B_uc002rej.3_5'UTR	p.F794L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			18	2676	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		794					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2382C>G	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.286050|2.286050	0.40394|0.40394	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000381024	D|.	0.94457|.	-3.43|.	5.51|5.51	3.68|3.68	0.42216|0.42216	.|.	0.938897|.	0.08987|.	N|.	0.864943|.	T|T	0.36386|0.36386	0.0965|0.0965	N|N	0.16037|0.16037	0.36|0.36	0.48696|0.48696	D|D	0.999698|0.999698	B;B|.	0.26483|.	0.093;0.15|.	B;B|.	0.31101|.	0.058;0.124|.	T|T	0.10917|0.10917	-1.0609|-1.0609	10|5	0.24483|.	T|.	0.36|.	.|.	8.0601|8.0601	0.30627|0.30627	0.295:0.0:0.705:0.0|0.295:0.0:0.705:0.0	.|.	794;794|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	L|C	794|75	ENSP00000238789:F794L|.	ENSP00000238789:F794L|.	F|S	-|-	3|2	2|0	ATAD2B|ATAD2B	23886762|23886762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.862000|0.862000	0.27899|0.27899	1.455000|1.455000	0.47813|0.47813	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.478	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		5	102	0	0	0	0	5	102				
NCOA1	8648	broad.mit.edu	37	2	24928094	24928094	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:24928094C>T	ENST00000406961.1	+	12	1741	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	NCOA1_ENST00000348332.3_Silent_p.I363I|NCOA1_ENST00000405141.1_Silent_p.I363I|NCOA1_ENST00000288599.5_Silent_p.I363I|NCOA1_ENST00000407230.1_Silent_p.I212I|NCOA1_ENST00000538539.1_Silent_p.I363I|NCOA1_ENST00000395856.3_Silent_p.I363I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	363	Interaction with STAT3.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATTCATATCATCGACAGGT	0.378			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1087-1089)ATC>ATT		nuclear receptor coactivator 1 isoform 1							102.0	99.0	100.0					2																	24928094		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24928094C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1089C>T	2.37:g.24928094C>T						NCOA1_uc010eye.2_Silent_p.I363I|NCOA1_uc002rfi.2_Silent_p.I212I|NCOA1_uc002rfj.2_Silent_p.I363I|NCOA1_uc002rfl.2_Silent_p.I363I	p.I363I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			10	1347	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		363			Interaction with STAT3.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.1089C>T	CCDS1712.1																																																																																				0.378	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		5	129	0	0	0	0	5	129				
PLB1	151056	broad.mit.edu	37	2	28789673	28789673	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:28789673G>A	ENST00000327757.5	+	20	1335	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	PLB1_ENST00000422425.2_Missense_Mutation_p.D442N|PLB1_ENST00000329020.6_Missense_Mutation_p.D119N	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	431	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CGTCGGCGGAGATGAGAACAT	0.622											OREG0014523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rmb.1		NA																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(1291-1293)GAT>AAT		phospholipase B1 precursor							89.0	88.0	89.0					2																	28789673		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28789673G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1291G>A	2.37:g.28789673G>A	ENSP00000330442:p.Asp431Asn		OREG0014523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	804	PLB1_uc010ezj.1_Missense_Mutation_p.D442N|PLB1_uc002rmc.2_Missense_Mutation_p.D119N|PLB1_uc002rmd.1_5'UTR	p.D431N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			20	1291	+	Acute lymphoblastic leukemia(172;0.155)		431			4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1291G>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172127	0.38315	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.35	4.36	0.52297	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.129222	0.56097	D	0.000033	T	0.16128	0.0388	L	0.52905	1.665	0.58432	D	0.999997	B;P;P	0.35982	0.044;0.51;0.531	B;B;B	0.42798	0.075;0.398;0.306	T	0.01666	-1.1300	10	0.42905	T	0.14	-31.1308	6.0113	0.19578	0.1623:0.0:0.8377:0.0	.	442;119;431	Q6P1J6-3;Q6P1J6-2;Q6P1J6	.;.;PLB1_HUMAN	N	431;442;141;119	ENSP00000330442:D431N;ENSP00000416440:D442N;ENSP00000392493:D141N;ENSP00000330729:D119N	ENSP00000330442:D431N	D	+	1	0	PLB1	28643177	1.000000	0.71417	0.351000	0.25721	0.045000	0.14185	1.985000	0.40668	2.502000	0.84385	0.561000	0.74099	GAT		0.622	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			9	109	0	0	0	0	9	109				
PRKD3	23683	broad.mit.edu	37	2	37520348	37520348	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:37520348C>T	ENST00000379066.1	-	3	1117	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	PRKD3_ENST00000234179.2_Missense_Mutation_p.E119K			O94806	KPCD3_HUMAN	protein kinase D3	119					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAAATGTTTTCTGAGTTCATG	0.398																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(355-357)GAA>AAA		protein kinase D3							125.0	115.0	118.0					2																	37520348		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37520348C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.355G>A	2.37:g.37520348C>T	ENSP00000368356:p.Glu119Lys					PRKD3_uc002rqf.1_Missense_Mutation_p.E119K	p.E119K	NM_005813	NP_005804	O94806	KPCD3_HUMAN			2	910	-		all_hematologic(82;0.21)	119					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.355G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754022	0.49362	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.85556	-0.16;-0.16;-2.0	5.31	5.31	0.75309	.	0.125586	0.53938	D	0.000043	D	0.82351	0.5018	L	0.46157	1.445	0.58432	D	0.999995	B;B	0.22746	0.074;0.036	B;B	0.29077	0.098;0.028	T	0.76751	-0.2844	10	0.13108	T	0.6	-18.6037	19.3605	0.94436	0.0:1.0:0.0:0.0	.	119;119	O94806-2;O94806	.;KPCD3_HUMAN	K	119;119;15	ENSP00000368356:E119K;ENSP00000234179:E119K;ENSP00000401839:E15K	ENSP00000234179:E119K	E	-	1	0	PRKD3	37373852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.630000	0.89119	0.650000	0.86243	GAA		0.398	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		79	106	0	0	0	0	79	106				
SOS1	6654	broad.mit.edu	37	2	39234270	39234270	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:39234270G>C	ENST00000426016.1	-	17	2661	c.2575C>G	c.(2575-2577)Cta>Gta	p.L859V	SOS1_ENST00000395038.2_Missense_Mutation_p.L859V|SOS1_ENST00000402219.2_Missense_Mutation_p.L859V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	859	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAGACTTGTAGAATCTCAATA	0.348									Noonan syndrome																													uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(2575-2577)CTA>GTA		son of sevenless homolog 1							143.0	147.0	145.0					2																	39234270		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39234270G>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2575C>G	2.37:g.39234270G>C	ENSP00000387784:p.Leu859Val					SOS1_uc002rrj.3_Missense_Mutation_p.L473V	p.L859V	NM_005633	NP_005624	Q07889	SOS1_HUMAN			16	2616	-		all_hematologic(82;0.21)	859			Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2575C>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623719	0.66901	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.30182	1.54;1.54;1.54	5.89	5.0	0.66597	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.50599	0.1625	M	0.74881	2.28	0.80722	D	1	D	0.59357	0.985	P	0.61658	0.892	T	0.51980	-0.8636	10	0.72032	D	0.01	.	11.723	0.51693	0.1344:0.0:0.8656:0.0	.	859	Q07889	SOS1_HUMAN	V	859;859;591;859;859	ENSP00000387784:L859V;ENSP00000384675:L859V;ENSP00000378479:L859V	ENSP00000263879:L859V	L	-	1	2	SOS1	39087774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.897000	0.56273	2.775000	0.95449	0.603000	0.83216	CTA		0.348	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		6	269	0	0	0	0	6	269				
C2orf61	285051	broad.mit.edu	37	2	47378441	47378441	+	Missense_Mutation	SNP	C	C	G	rs147631903		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:47378441C>G	ENST00000445927.2	-	3	481	c.355G>C	c.(355-357)Gac>Cac	p.D119H	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000294947.2_Missense_Mutation_p.D119H	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	119								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGTGGTTTGTCTTTGAATGAG	0.473																																						uc002rvs.2		NA																	2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)		0						c.(355-357)GAC>CAC		hypothetical protein LOC285051 isoform 2							148.0	136.0	140.0					2																	47378441		2203	4300	6503	SO:0001583	missense	285051							g.chr2:47378441C>G	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.355G>C	2.37:g.47378441C>G	ENSP00000408527:p.Asp119His					C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Missense_Mutation_p.D119H	p.D119H	NM_173649	NP_775920	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	482	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	119					H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	c.355G>C	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937359	0.52972	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.34667	1.43;1.35	4.97	3.14	0.36123	.	0.243776	0.28748	N	0.014271	T	0.43166	0.1235	L	0.60455	1.87	0.26971	N	0.965581	D	0.59767	0.986	P	0.55999	0.789	T	0.26710	-1.0095	10	0.56958	D	0.05	-8.6717	5.4854	0.16747	0.0:0.6591:0.0:0.3409	.	119	Q8N801	CB061_HUMAN	H	119	ENSP00000408527:D119H;ENSP00000294947:D119H	ENSP00000294947:D119H	D	-	1	0	C2orf61	47231945	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	1.706000	0.37878	1.084000	0.41184	0.467000	0.42956	GAC		0.473	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		10	173	0	0	0	0	10	173				
CCDC85A	114800	broad.mit.edu	37	2	56599513	56599513	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:56599513A>G	ENST00000407595.2	+	4	1854	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	451										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCAACTAGAAACAGCTCAAAT	0.502																																						uc002rzn.2		NA																	0				breast(3)|ovary(2)	5						c.(1351-1353)AAC>AGC		coiled-coil domain containing 85A							29.0	31.0	31.0					2																	56599513		1886	4112	5998	SO:0001583	missense	114800							g.chr2:56599513A>G	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1352A>G	2.37:g.56599513A>G	ENSP00000384040:p.Asn451Ser						p.N451S	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1854	+			451						Missense_Mutation	SNP	ENST00000407595.2	37	c.1352A>G	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665962	0.29604	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	5.84	0.93424	.	0.610900	0.16267	N	0.221958	T	0.21022	0.0506	N	0.08118	0	0.32409	N	0.550889	B	0.32918	0.39	B	0.27380	0.079	T	0.19353	-1.0308	9	0.10636	T	0.68	-33.4554	12.6005	0.56494	1.0:0.0:0.0:0.0	.	451	Q96PX6	CC85A_HUMAN	S	451;40	.	ENSP00000384040:N451S	N	+	2	0	CCDC85A	56453017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.247000	0.58750	2.233000	0.73108	0.482000	0.46254	AAC		0.502	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			7	10	0	0	0	0	7	10				
EHBP1	23301	broad.mit.edu	37	2	63053232	63053232	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:63053232C>G	ENST00000263991.5	+	6	805	c.323C>G	c.(322-324)tCt>tGt	p.S108C	EHBP1_ENST00000354487.3_Missense_Mutation_p.S108C|EHBP1_ENST00000405289.1_Missense_Mutation_p.S108C|EHBP1_ENST00000431489.1_Missense_Mutation_p.S108C|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.S108C	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	108						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAATCCCCTTCTGGTCGAAGG	0.318																																						uc002sby.2		NA																	0				ovary(1)|breast(1)	2						c.(322-324)TCT>TGT		EH domain binding protein 1 isoform 1							59.0	59.0	59.0					2																	63053232		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63053232C>G	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.323C>G	2.37:g.63053232C>G	ENSP00000263991:p.Ser108Cys					EHBP1_uc010fcp.2_Missense_Mutation_p.S108C|EHBP1_uc010fcq.1_Missense_Mutation_p.S108C|EHBP1_uc002sbx.2_Missense_Mutation_p.S108C|EHBP1_uc002sbz.2_Missense_Mutation_p.S108C|EHBP1_uc002scb.2_Missense_Mutation_p.S108C	p.S108C	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		6	805	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		108					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.323C>G	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598391	0.66332	.	.	ENSG00000115504	ENST00000405015;ENST00000413434;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.52	4.65	0.58169	.	0.186060	0.47852	D	0.000202	T	0.53238	0.1784	L	0.38175	1.15	0.49582	D	0.999804	P;P;B	0.51351	0.944;0.858;0.263	P;P;P	0.55824	0.785;0.575;0.759	T	0.57010	-0.7884	10	0.72032	D	0.01	.	14.2335	0.65908	0.0:0.9283:0.0:0.0717	.	108;108;108	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	C	108;76;108;108;108;108;108	ENSP00000384143:S108C;ENSP00000392192:S76C;ENSP00000384829:S108C;ENSP00000403783:S108C;ENSP00000263991:S108C;ENSP00000346482:S108C;ENSP00000385524:S108C	ENSP00000263991:S108C	S	+	2	0	EHBP1	62906736	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	5.717000	0.68446	1.345000	0.45676	-0.218000	0.12543	TCT		0.318	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		3	107	0	0	0	0	3	107				
NAT8	9027	broad.mit.edu	37	2	73868552	73868552	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:73868552G>A	ENST00000272425.3	-	2	353	c.204C>T	c.(202-204)atC>atT	p.I68I		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAAGAGGCTGATGCTGAACA	0.537																																						uc002sji.1		NA																	0				ovary(1)	1						c.(202-204)ATC>ATT		N-acetyltransferase 8							103.0	111.0	108.0					2																	73868552		2203	4300	6503	SO:0001819	synonymous_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868552G>A	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.204C>T	2.37:g.73868552G>A							p.I68I	NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN			2	371	-			68			Helical; (Potential).|N-acetyltransferase.			Silent	SNP	ENST00000272425.3	37	c.204C>T	CCDS1926.1																																																																																				0.537	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		10	224	0	0	0	0	10	224				
MRPS9	64965	broad.mit.edu	37	2	105665724	105665724	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:105665724G>A	ENST00000258455.3	+	2	341	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	77					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTAAAAAGCAGATTGAAGAGT	0.348																																						uc002tcn.3		NA																	0					0						c.(229-231)CAG>CAA		mitochondrial ribosomal protein S9 precursor							82.0	82.0	82.0					2																	105665724		2203	4300	6503	SO:0001819	synonymous_variant	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105665724G>A		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.231G>A	2.37:g.105665724G>A							p.Q77Q	NM_182640	NP_872578	P82933	RT09_HUMAN			2	299	+			77					Q6PG40	Silent	SNP	ENST00000258455.3	37	c.231G>A	CCDS2065.1																																																																																				0.348	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		7	99	0	0	0	0	7	99				
SLC20A1	6574	broad.mit.edu	37	2	113410356	113410356	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:113410356C>T	ENST00000272542.3	+	5	1178	c.639C>T	c.(637-639)atC>atT	p.I213I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	213					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTTTTCCATCATGTATACTG	0.353																																						uc002tib.2		NA																	0				ovary(2)	2						c.(637-639)ATC>ATT		solute carrier family 20 (phosphate							169.0	157.0	161.0					2																	113410356		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113410356C>T		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.639C>T	2.37:g.113410356C>T							p.I213I	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			5	1085	+			213			Helical; (Potential).		Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.639C>T	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.093|8.093	0.775025|0.775025	0.16051|0.16051	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000433924|ENST00000423633	.|.	.|.	.|.	5.69|5.69	4.81|4.81	0.61882|0.61882	.|.	.|.	.|.	.|.	.|.	T|T	0.58963|0.58963	0.2159|0.2159	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57112|0.57112	-0.7867|-0.7867	4|4	.|.	.|.	.|.	-24.1024|-24.1024	8.0805|8.0805	0.30741|0.30741	0.0:0.8155:0.0:0.1844|0.0:0.8155:0.0:0.1844	.|.	.|.	.|.	.|.	Y|L	39|61	.|.	.|.	H|S	+|+	1|2	0|0	SLC20A1|SLC20A1	113126827|113126827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.611000|2.611000	0.46334|0.46334	1.373000|1.373000	0.46208|0.46208	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.353	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		7	273	0	0	0	0	7	273				
PROC	5624	broad.mit.edu	37	2	128186312	128186312	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:128186312G>A	ENST00000234071.3	+	9	1263	c.1176G>A	c.(1174-1176)ggG>ggA	p.G392G	PROC_ENST00000409048.1_Silent_p.G426G|PROC_ENST00000422777.3_Silent_p.G392G|PROC_ENST00000453608.2_Silent_p.G447G	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	392	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> R (in THPH3; Osaka-9). {ECO:0000269|PubMed:7865674}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GCATCCTCGGGGACCGGCAGG	0.632																																						uc002tok.2		NA																	0					0						c.(1174-1176)GGG>GGA		protein C	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						74.0	82.0	79.0					2																	128186312		2203	4300	6503	SO:0001819	synonymous_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186312G>A	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1176G>A	2.37:g.128186312G>A						PROC_uc002tol.2_Silent_p.G413G|PROC_uc010yzi.1_Silent_p.G448G|PROC_uc010yzj.1_Silent_p.G287G|PROC_uc010yzk.1_Silent_p.G447G|PROC_uc002tom.2_Silent_p.G426G	p.G392G	NM_000312	NP_000303	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	9	1249	+	Colorectal(110;0.1)		392		G -> R (in ADPROCD; Osaka-9).	Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Silent	SNP	ENST00000234071.3	37	c.1176G>A	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	G	8.330	0.826388	0.16749	.	.	ENSG00000115718	ENST00000402125	D	0.92595	-3.07	4.84	1.89	0.25635	.	0.000000	0.44688	D	0.000426	D	0.91643	0.7359	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.89117	0.3500	7	0.87932	D	0	.	4.8376	0.13473	0.3545:0.0:0.505:0.1404	.	.	.	.	E	167	ENSP00000384225:G167E	ENSP00000384225:G167E	G	+	2	0	PROC	127902782	0.153000	0.22777	0.981000	0.43875	0.838000	0.47535	-0.574000	0.05868	0.633000	0.30452	0.655000	0.94253	GGG		0.632	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		8	205	0	0	0	0	8	205				
POTEF	728378	broad.mit.edu	37	2	130832366	130832366	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:130832366G>A	ENST00000409914.2	-	17	3078	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	POTEF_ENST00000357462.5_Silent_p.L893L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	893	Actin-like.				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						CATGCTCGGTGAGGATCTTCA	0.587																																						uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(2677-2679)CTC>CTT		prostate, ovary, testis expressed protein on							20.0	28.0	26.0					2																	130832366		1853	3898	5751	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130832366G>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.2679C>T	2.37:g.130832366G>A							p.L893L	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	3079	-			893			Actin-like.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.2679C>T	CCDS46409.1																																																																																				0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		9	98	0	0	0	0	9	98				
ACMSD	130013	broad.mit.edu	37	2	135659429	135659429	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:135659429G>C	ENST00000356140.5	+	10	1146	c.1010G>C	c.(1009-1011)tGa>tCa	p.*337S	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Nonstop_Mutation_p.*279S|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000428857.1_RNA|ACMSD_ENST00000283054.4_Nonstop_Mutation_p.*279S	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	0					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CAATTTGAATGACTGAATTTA	0.299																																						uc002ttz.2		NA																	0				skin(1)	1						c.(1009-1011)TGA>TCA		aminocarboxymuconate semialdehyde decarboxylase							44.0	47.0	46.0					2																	135659429		2201	4294	6495	SO:0001578	stop_lost	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135659429G>C	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.1010G>C	2.37:g.135659429G>C	ENSP00000348459:p.*337Serext*18					ACMSD_uc002tua.2_Nonstop_Mutation_p.*279S|uc010zbe.1_Intron	p.*337S	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	10	1077	+			337					Q3B7X3|Q53SR5|Q96KY2	Nonstop_Mutation	SNP	ENST00000356140.5	37	c.1010G>C	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946579	0.53186	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.72	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7193	0.34430	0.2975:0.0:0.7025:0.0	.	.	.	.	S	337;279;279	.	.	X	+	2	2	ACMSD	135375899	1.000000	0.71417	0.992000	0.48379	0.906000	0.53458	1.911000	0.39937	0.708000	0.31955	0.655000	0.94253	TGA		0.299	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			3	75	0	0	0	0	3	75				
UBXN4	23190	broad.mit.edu	37	2	136537915	136537915	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:136537915G>A	ENST00000272638.9	+	12	1659	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	450					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACATCGTCAGAACCCCCAAA	0.388																																						uc002tur.2		NA																	0				skin(2)	2						c.(1348-1350)GAA>AAA		UBX domain containing 2							170.0	157.0	161.0					2																	136537915		1871	4109	5980	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136537915G>A	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1348G>A	2.37:g.136537915G>A	ENSP00000272638:p.Glu450Lys					UBXN4_uc002tus.2_Missense_Mutation_p.E216K|UBXN4_uc002tut.2_Missense_Mutation_p.E86K	p.E450K	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			12	1659	+			450			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.1348G>A	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992472	0.35131	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.46063	0.88	5.03	5.03	0.67393	.	0.194957	0.43579	D	0.000555	T	0.28863	0.0716	L	0.43152	1.355	0.24950	N	0.991797	P	0.38922	0.651	B	0.30401	0.115	T	0.20371	-1.0277	10	0.12430	T	0.62	.	12.3584	0.55188	0.0878:0.0:0.9122:0.0	.	450	Q92575	UBXN4_HUMAN	K	450;432	ENSP00000272638:E450K	ENSP00000272638:E450K	E	+	1	0	UBXN4	136254385	1.000000	0.71417	0.486000	0.27416	0.949000	0.60115	8.021000	0.88750	2.613000	0.88420	0.484000	0.47621	GAA		0.388	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		13	256	0	0	0	0	13	256				
ITGB6	3694	broad.mit.edu	37	2	161052754	161052754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:161052754G>A	ENST00000283249.2	-	3	556	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	ITGB6_ENST00000409872.1_Nonsense_Mutation_p.Q107*|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.Q107*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.Q65*|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	107					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAAGCTTTGAGGCGCAATC	0.383																																						uc002ubh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(319-321)CAA>TAA		integrin, beta 6 precursor							158.0	148.0	151.0					2																	161052754		2203	4300	6503	SO:0001587	stop_gained	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161052754G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.319C>T	2.37:g.161052754G>A	ENSP00000283249:p.Gln107*					ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Nonsense_Mutation_p.Q107*|ITGB6_uc010zcq.1_Nonsense_Mutation_p.Q65*|ITGB6_uc010fov.1_Nonsense_Mutation_p.Q107*	p.Q107*	NM_000888	NP_000879	P18564	ITB6_HUMAN			3	335	-			107			Extracellular (Potential).		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Nonsense_Mutation	SNP	ENST00000283249.2	37	c.319C>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	38	6.929646	0.97944	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	107;65;107;107	.	ENSP00000283249:Q107X	Q	-	1	0	ITGB6	160761000	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	8.721000	0.91446	2.885000	0.99019	0.655000	0.94253	CAA		0.383	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		13	244	0	0	0	0	13	244				
HOXD10	3236	broad.mit.edu	37	2	176983913	176983913	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:176983913G>C	ENST00000249501.4	+	2	1232	c.977G>C	c.(976-978)cGa>cCa	p.R326P	HOXD-AS2_ENST00000440016.2_RNA|HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	326					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AAGATGAGCCGAGAGAACCGG	0.572																																						uc002ukj.2		NA																	0				ovary(1)	1						c.(976-978)CGA>CCA		homeobox D10							50.0	54.0	52.0					2																	176983913		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176983913G>C		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.977G>C	2.37:g.176983913G>C	ENSP00000249501:p.Arg326Pro						p.R326P	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	2	1047	+			326					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.977G>C	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551926	0.86127	.	.	ENSG00000128710	ENST00000249501	D	0.96041	-3.89	5.94	5.94	0.96194	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98015	0.9346	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98294	1.0515	10	0.87932	D	0	.	19.9695	0.97278	0.0:0.0:1.0:0.0	.	326	P28358	HXD10_HUMAN	P	326	ENSP00000249501:R326P	ENSP00000249501:R326P	R	+	2	0	HOXD10	176692159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.816000	0.96949	0.561000	0.74099	CGA		0.572	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			5	101	0	0	0	0	5	101				
TTN	7273	broad.mit.edu	37	2	179569097	179569097	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:179569097C>G	ENST00000591111.1	-	104	29273	c.29049G>C	c.(29047-29049)ctG>ctC	p.L9683L	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L8756L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.L10000L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13761	Ig-like 78.				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)			GGCCTTCTTTCAGAGTCACAT	0.428																																						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.(26266-26268)CTG>CTC		titin isoform N2-A							185.0	177.0	180.0					2																	179569097		1973	4171	6144	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569097C>G	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.29049G>C	2.37:g.179569097C>G						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L5417L	p.L8756L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		103	26492	-			9683					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	Silent	SNP	ENST00000591111.1	37	c.26268G>C																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	338	0	0	0	0	16	338				
DNAH7	56171	broad.mit.edu	37	2	196801458	196801458	+	Missense_Mutation	SNP	G	G	T	rs199839208		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:196801458G>T	ENST00000312428.6	-	20	3237	c.3137C>A	c.(3136-3138)tCt>tAt	p.S1046Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1046	Stem. {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						AAGTTCATTAGATTTTTTCAG	0.299																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(3136-3138)TCT>TAT		dynein, axonemal, heavy chain 7							58.0	56.0	56.0					2																	196801458		1796	4062	5858	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196801458G>T	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.3137C>A	2.37:g.196801458G>T	ENSP00000311273:p.Ser1046Tyr						p.S1046Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			20	3238	-			1046			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.3137C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595542	0.28445	.	.	ENSG00000118997	ENST00000312428	T	0.61040	0.14	5.78	1.33	0.21861	Dynein heavy chain, domain-2 (1);	0.740543	0.12903	N	0.429635	T	0.70649	0.3248	M	0.82716	2.605	0.19300	N	0.999973	P	0.47677	0.899	P	0.60173	0.87	T	0.63519	-0.6619	10	0.02654	T	1	.	15.1449	0.72643	0.0:0.4452:0.4688:0.0859	.	1046	Q8WXX0	DYH7_HUMAN	Y	1046	ENSP00000311273:S1046Y	ENSP00000311273:S1046Y	S	-	2	0	DNAH7	196509703	0.988000	0.35896	0.783000	0.31826	0.707000	0.40811	0.599000	0.24089	0.116000	0.18110	-0.226000	0.12346	TCT		0.299	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	103	1	0	0.00909568	0.00919605	4	103				
SGOL2	151246	broad.mit.edu	37	2	201437872	201437872	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:201437872G>C	ENST00000357799.4	+	7	2901	c.2803G>C	c.(2803-2805)Gaa>Caa	p.E935Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	935					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACATGTCCAAGAAAGCTATAC	0.274																																						uc002uvw.2		NA																	0				ovary(2)|skin(2)	4						c.(2803-2805)GAA>CAA		shugoshin-like 2 isoform 1							73.0	75.0	74.0					2																	201437872		1820	4041	5861	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437872G>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2803G>C	2.37:g.201437872G>C	ENSP00000350447:p.Glu935Gln					SGOL2_uc010zhd.1_Missense_Mutation_p.E935Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E935Q	p.E935Q	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	2916	+			935					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2803G>C	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	8.857	0.946055	0.18356	.	.	ENSG00000163535	ENST00000357799	T	0.15139	2.45	5.24	3.31	0.37934	.	0.146649	0.31392	N	0.007732	T	0.29028	0.0721	L	0.60455	1.87	0.22684	N	0.998858	D;D;D	0.76494	0.999;0.996;0.98	D;P;P	0.65443	0.935;0.892;0.714	T	0.10520	-1.0626	10	0.72032	D	0.01	-8.5073	3.6649	0.08252	0.1397:0.0:0.6155:0.2448	.	935;935;935	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	Q	935	ENSP00000350447:E935Q	ENSP00000350447:E935Q	E	+	1	0	SGOL2	201146117	0.725000	0.28048	0.009000	0.14445	0.108000	0.19459	2.750000	0.47500	0.667000	0.31107	-0.302000	0.09304	GAA		0.274	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		9	198	0	0	0	0	9	198				
ALS2	57679	broad.mit.edu	37	2	202572650	202572650	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:202572650C>G	ENST00000264276.6	-	28	4717	c.4345G>C	c.(4345-4347)Gaa>Caa	p.E1449Q	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1449					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GACTTCCTTTCGGTTGGCAGA	0.438																																						uc002uyo.2		NA																	0				skin(5)|lung(1)|breast(1)	7						c.(4345-4347)GAA>CAA		alsin isoform 1							68.0	65.0	66.0					2																	202572650		1843	4098	5941	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202572650C>G	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4345G>C	2.37:g.202572650C>G	ENSP00000264276:p.Glu1449Gln					ALS2_uc010ftl.2_RNA	p.E1449Q	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			28	4701	-			1449					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.4345G>C	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.332956	0.60853	.	.	ENSG00000003393	ENST00000264276	T	0.57595	0.39	5.93	5.93	0.95920	.	0.503845	0.22824	N	0.055182	T	0.46718	0.1407	L	0.33485	1.01	0.80722	D	1	B	0.12013	0.005	B	0.15052	0.012	T	0.23190	-1.0195	10	0.29301	T	0.29	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1449	Q96Q42	ALS2_HUMAN	Q	1449	ENSP00000264276:E1449Q	ENSP00000264276:E1449Q	E	-	1	0	ALS2	202280895	0.996000	0.38824	0.981000	0.43875	0.984000	0.73092	3.787000	0.55439	2.805000	0.96524	0.655000	0.94253	GAA		0.438	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		3	103	0	0	0	0	3	103				
RPL37A	6168	broad.mit.edu	37	2	217364725	217364725	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:217364725G>C	ENST00000491306.1	+	3	872	c.186G>C	c.(184-186)aaG>aaC	p.K62N	AC098820.3_ENST00000453157.1_RNA|RPL37A_ENST00000456586.1_Missense_Mutation_p.K38N|RPL37A_ENST00000427280.2_Missense_Mutation_p.K38N|RPL37A_ENST00000441179.2_Missense_Mutation_p.K38N|RPL37A_ENST00000446558.1_Missense_Mutation_p.K62N|AC098820.3_ENST00000438978.1_RNA|RPL37A_ENST00000600880.1_Missense_Mutation_p.K62N|RPL37A_ENST00000598925.1_Missense_Mutation_p.K38N	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	62					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCATGAAGACAGTGGCTG	0.473																																						uc002vgf.2		NA																	0				ovary(1)	1						c.(184-186)AAG>AAC		ribosomal protein L37a							120.0	117.0	118.0					2																	217364725		2203	4300	6503	SO:0001583	missense	6168				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome	g.chr2:217364725G>C		CCDS2404.1	2q35	2011-04-06			ENSG00000197756	ENSG00000197756		"""L ribosomal proteins"""	10348	protein-coding gene	gene with protein product		613314				1437567	Standard	NM_000998		Approved	L37A	uc002vgf.3	P61513	OTTHUMG00000133052	ENST00000491306.1:c.186G>C	2.37:g.217364725G>C	ENSP00000418082:p.Lys62Asn					RPL37A_uc002vgg.2_Missense_Mutation_p.K62N	p.K62N	NM_000998	NP_000989	P61513	RL37A_HUMAN		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	264	+		Renal(323;0.0458)	62					P12751|Q6FGF5	Missense_Mutation	SNP	ENST00000491306.1	37	c.186G>C	CCDS2404.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448013	0.63178	.	.	ENSG00000197756	ENST00000491306;ENST00000446558;ENST00000456586	.	.	.	5.29	-7.04	0.01578	Ribosomal protein L37ae/L37e, N-terminal (1);Ribosomal protein, zinc-binding domain (1);	0.000000	0.64402	U	0.000008	T	0.60235	0.2253	.	.	.	0.58432	D	0.999999	B;B	0.23650	0.032;0.089	B;B	0.32724	0.151;0.09	T	0.37979	-0.9682	8	0.51188	T	0.08	.	19.1248	0.93378	0.2737:0.0:0.7263:0.0	.	62;62	Q6P4E4;P61513	.;RL37A_HUMAN	N	62;62;38	.	ENSP00000388690:K62N	K	+	3	2	RPL37A	217072970	0.993000	0.37304	0.280000	0.24747	0.978000	0.69477	0.329000	0.19698	-1.569000	0.01668	-0.302000	0.09304	AAG		0.473	RPL37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256665.2	NM_000998		4	132	0	0	0	0	4	132				
PLCD4	84812	broad.mit.edu	37	2	219496958	219496958	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:219496958G>C	ENST00000450993.2	+	10	1711	c.1372G>C	c.(1372-1374)Gaa>Caa	p.E458Q	RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.E458Q|PLCD4_ENST00000417849.1_Missense_Mutation_p.E458Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	458	Glu-rich.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAAGAGTCAGAATTGGCGCT	0.502																																						uc002vij.1		NA																	0				ovary(3)	3						c.(1372-1374)GAA>CAA		phospholipase C, delta 4							51.0	55.0	54.0					2																	219496958		1971	4162	6133	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219496958G>C	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1372G>C	2.37:g.219496958G>C	ENSP00000388631:p.Glu458Gln					PLCD4_uc010zkk.1_Intron	p.E458Q	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	1567	+		Renal(207;0.0915)	458			Glu-rich.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.1372G>C	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107566	0.20714	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.52526	0.66;0.66;2.33	5.26	1.33	0.21861	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	13.720900	0.00797	N	0.001388	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.23440	-1.0188	10	0.37606	T	0.19	.	8.2858	0.31928	0.1371:0.2568:0.6061:0.0	.	458	Q9BRC7	PLCD4_HUMAN	Q	458	ENSP00000388631:E458Q;ENSP00000396942:E458Q;ENSP00000396185:E458Q	ENSP00000251959:E458Q	E	+	1	0	PLCD4	219205202	0.055000	0.20627	0.000000	0.03702	0.101000	0.19017	1.891000	0.39738	0.056000	0.16144	0.655000	0.94253	GAA		0.502	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			4	17	0	0	0	0	4	17				
COL4A4	1286	broad.mit.edu	37	2	227973311	227973311	+	Nonsense_Mutation	SNP	G	G	A	rs374740993		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:227973311G>A	ENST00000396625.3	-	12	928	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.Q241*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	241	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTCCCATTTGCCCCTTTACT	0.418																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(721-723)CAA>TAA		alpha 4 type IV collagen precursor							100.0	104.0	103.0					2																	227973311		1892	4111	6003	SO:0001587	stop_gained	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227973311G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.721C>T	2.37:g.227973311G>A	ENSP00000379866:p.Gln241*						p.Q241*	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	12	1375	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	241			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	37	c.721C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	39	7.390510	0.98255	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	14.5639	0.68162	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000328553:Q241X	Q	-	1	0	COL4A4	227681555	0.996000	0.38824	0.600000	0.28864	0.954000	0.61252	5.038000	0.64177	2.587000	0.87381	0.585000	0.79938	CAA		0.418	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		7	231	0	0	0	0	7	231				
NMUR1	10316	broad.mit.edu	37	2	232393432	232393432	+	Silent	SNP	G	G	A	rs139992213	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:232393432G>A	ENST00000305141.4	-	2	433	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	100					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCAGGCTGAAGAGGTAGT	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0					uc002vry.3		NA																	0				lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(298-300)TTC>TTT		neuromedin U receptor 1		G		3,4403	6.2+/-15.9	0,3,2200	89.0	91.0	90.0		300	5.2	1.0	2	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	NMUR1	NM_006056.4		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		100/427	232393432	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393432G>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.300C>T	2.37:g.232393432G>A							p.F100F	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	410	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	100			Helical; Name=2; (Potential).		O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	c.300C>T	CCDS2486.1																																																																																				0.627	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		10	156	0	0	0	0	10	156				
PCED1A	64773	broad.mit.edu	37	20	2820550	2820550	+	Silent	SNP	G	G	A	rs143418384		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:2820550G>A	ENST00000360652.2	-	2	511	c.9C>T	c.(7-9)ttC>ttT	p.F3F	PCED1A_ENST00000356872.3_Silent_p.F3F|VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	3																	TCGACAGACAGAAGACCATGC	0.647																																						uc002wgz.1		NA																	0				ovary(2)	2						c.(7-9)TTC>TTT		hypothetical protein LOC64773		G		0,4406		0,0,2203	45.0	43.0	44.0		9	3.8	1.0	20	dbSNP_134	44	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	FAM113A	NM_022760.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		3/455	2820550	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64773						hydrolase activity|protein binding	g.chr20:2820550G>A	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.9C>T	20.37:g.2820550G>A						FAM113A_uc002whb.1_5'UTR|FAM113A_uc002wha.1_5'UTR|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Silent_p.F3F|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	p.F3F	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN			2	506	-			3					Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	ENST00000360652.2	37	c.9C>T	CCDS13035.1																																																																																				0.647	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		15	32	0	0	0	0	15	32				
UBOX5	22888	broad.mit.edu	37	20	3102039	3102039	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:3102039A>G	ENST00000217173.2	-	3	1717	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R	UBOX5_ENST00000348031.2_Missense_Mutation_p.C416R|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CCTGTCGAGCAGTCCATATGT	0.532																																						uc002whw.2		NA																	0				ovary(1)|skin(1)	2						c.(1246-1248)TGC>CGC		U-box domain containing 5 isoform a							110.0	95.0	100.0					20																	3102039		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3102039A>G	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1246T>C	20.37:g.3102039A>G	ENSP00000217173:p.Cys416Arg					uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.C416R|UBOX5_uc002why.1_Missense_Mutation_p.C416R	p.C416R	NM_014948	NP_055763	O94941	RNF37_HUMAN			3	1416	-			416						Missense_Mutation	SNP	ENST00000217173.2	37	c.1246T>C	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009431	0.35415	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.37411	1.43;1.2	5.29	5.29	0.74685	.	0.547246	0.19074	U	0.123412	T	0.49490	0.1560	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.70935	0.971;0.938;0.971	T	0.51276	-0.8726	10	0.72032	D	0.01	-6.0667	15.2404	0.73465	1.0:0.0:0.0:0.0	.	416;416;416	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	R	416	ENSP00000217173:C416R;ENSP00000311726:C416R	ENSP00000217173:C416R	C	-	1	0	UBOX5	3050039	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	4.501000	0.60393	1.988000	0.58038	0.533000	0.62120	TGC		0.532	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		49	78	0	0	0	0	49	78				
CRNKL1	51340	broad.mit.edu	37	20	20023027	20023027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:20023027C>T	ENST00000377340.2	-	9	1620	c.1589G>A	c.(1588-1590)tGg>tAg	p.W530*	CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.W369*|CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.W518*	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	530	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTAGCGCTTCCAGTGCCTCTT	0.448																																						uc002wrs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1588-1590)TGG>TAG		crooked neck-like 1 protein							152.0	140.0	144.0					20																	20023027		2203	4300	6503	SO:0001587	stop_gained	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20023027C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1589G>A	20.37:g.20023027C>T	ENSP00000366557:p.Trp530*						p.W530*	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			9	1621	-			530			HAT 9.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Nonsense_Mutation	SNP	ENST00000377340.2	37	c.1589G>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	39	7.627528	0.98399	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.848	20.3312	0.98718	0.0:1.0:0.0:0.0	.	.	.	.	X	518;530;369	.	ENSP00000366544:W518X	W	-	2	0	CRNKL1	19971027	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.797000	0.96272	0.655000	0.94253	TGG		0.448	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			6	225	0	0	0	0	6	225				
CRNKL1	51340	broad.mit.edu	37	20	20026038	20026038	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:20026038C>T	ENST00000377340.2	-	7	1229	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E239K|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E388K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	400					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ACAGCTCTCTCATACACTTTC	0.418																																						uc002wrs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1198-1200)GAG>AAG		crooked neck-like 1 protein							171.0	168.0	169.0					20																	20026038		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20026038C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1198G>A	20.37:g.20026038C>T	ENSP00000366557:p.Glu400Lys						p.E400K	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			7	1230	-			400			HAT 6.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1198G>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835271	0.91117	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.12255	2.7;2.7;2.7	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.093125	0.64402	D	0.000001	T	0.44117	0.1278	M	0.86864	2.845	0.80722	D	1	D	0.61080	0.989	D	0.63283	0.913	T	0.44528	-0.9322	10	0.62326	D	0.03	-28.2821	20.0466	0.97609	0.0:1.0:0.0:0.0	.	400	Q9BZJ0	CRNL1_HUMAN	K	388;400;239	ENSP00000366544:E388K;ENSP00000366557:E400K;ENSP00000440733:E239K	ENSP00000366544:E388K	E	-	1	0	CRNKL1	19974038	1.000000	0.71417	0.977000	0.42913	0.914000	0.54420	7.818000	0.86416	2.729000	0.93468	0.563000	0.77884	GAG		0.418	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			8	289	0	0	0	0	8	289				
MYL9	10398	broad.mit.edu	37	20	35173423	35173423	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:35173423G>C	ENST00000279022.2	+	2	240	c.136G>C	c.(136-138)Gat>Cat	p.D46H	RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.D46H|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	46	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGAACCGTGATGGCTTCAT	0.572																																						uc002xfl.1		NA																	0					0						c.(136-138)GAT>CAT		myosin regulatory light chain 9 isoform a							116.0	101.0	106.0					20																	35173423		2203	4300	6503	SO:0001583	missense	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35173423G>C	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.136G>C	20.37:g.35173423G>C	ENSP00000279022:p.Asp46His					uc002xfk.3_Intron|MYL9_uc002xfm.1_Missense_Mutation_p.D46H	p.D46H	NM_006097	NP_006088	P24844	MYL9_HUMAN			2	230	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	46			|EF-hand 1.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	c.136G>C	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521348	0.85600	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.76186	-1.0;-0.93	4.67	4.67	0.58626	EF-hand-like domain (1);	0.050839	0.85682	D	0.000000	D	0.90403	0.6996	H	0.96269	3.795	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.76071	0.865;0.987	D	0.93609	0.6937	10	0.87932	D	0	.	16.5061	0.84272	0.0:0.0:1.0:0.0	.	46;46	Q9BUF9;P24844	.;MYL9_HUMAN	H	46	ENSP00000279022:D46H;ENSP00000217313:D46H	ENSP00000279022:D46H	D	+	1	0	MYL9	34606837	1.000000	0.71417	0.633000	0.29310	0.998000	0.95712	9.869000	0.99810	2.299000	0.77371	0.655000	0.94253	GAT		0.572	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		5	158	0	0	0	0	5	158				
ZMYND8	23613	broad.mit.edu	37	20	45905248	45905248	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:45905248C>T	ENST00000311275.7	-	11	1483	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	ZMYND8_ENST00000360911.3_Silent_p.L405L|ZMYND8_ENST00000540497.1_Silent_p.L405L|ZMYND8_ENST00000458360.2_Silent_p.L405L|ZMYND8_ENST00000262975.4_Silent_p.L410L|ZMYND8_ENST00000536340.1_Silent_p.L437L|ZMYND8_ENST00000461685.1_Silent_p.L430L|ZMYND8_ENST00000471951.2_Silent_p.L430L|ZMYND8_ENST00000446994.2_Silent_p.L347L|ZMYND8_ENST00000352431.2_Silent_p.L430L|ZMYND8_ENST00000372023.3_Silent_p.L405L|ZMYND8_ENST00000355972.4_Silent_p.L410L|ZMYND8_ENST00000396281.4_Silent_p.L410L|ZMYND8_ENST00000468376.2_5'UTR	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	410					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTTGCTCATCAGGATCTTGG	0.592																																						uc002xta.1		NA																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1228-1230)CTG>CTA		zinc finger, MYND-type containing 8 isoform b							105.0	91.0	96.0					20																	45905248		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45905248C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1230G>A	20.37:g.45905248C>T						ZMYND8_uc010ghq.1_Silent_p.L87L|ZMYND8_uc010ghr.1_Silent_p.L385L|ZMYND8_uc002xst.1_Silent_p.L385L|ZMYND8_uc002xsu.1_Silent_p.L410L|ZMYND8_uc002xsv.1_Silent_p.L385L|ZMYND8_uc002xsw.1_Silent_p.L162L|ZMYND8_uc002xsx.1_Silent_p.L162L|ZMYND8_uc002xsy.1_Silent_p.L385L|ZMYND8_uc002xsz.1_Silent_p.L347L|ZMYND8_uc010zxy.1_Silent_p.L437L|ZMYND8_uc002xtb.1_Silent_p.L430L|ZMYND8_uc002xss.2_Silent_p.L410L|ZMYND8_uc010zxz.1_Silent_p.L405L|ZMYND8_uc002xtc.1_Silent_p.L430L|ZMYND8_uc002xtd.1_Silent_p.L405L|ZMYND8_uc002xte.1_Silent_p.L410L|ZMYND8_uc010zya.1_Silent_p.L410L|ZMYND8_uc002xtf.1_Silent_p.L430L|ZMYND8_uc002xtg.2_Silent_p.L404L|ZMYND8_uc010ghs.1_Silent_p.L404L	p.L410L	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1484	-			410					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.1230G>A		.	.	.	.	.	.	.	.	.	.	C	9.636	1.137770	0.21123	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.63	-0.787	0.10943	.	.	.	.	.	T	0.44074	0.1276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26643	-1.0097	4	.	.	.	-11.8172	4.4831	0.11776	0.129:0.3983:0.3641:0.1086	.	.	.	.	N	337	.	.	D	-	1	0	ZMYND8	45338655	0.867000	0.29959	0.988000	0.46212	0.994000	0.84299	-0.068000	0.11561	0.005000	0.14708	0.655000	0.94253	GAT		0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		12	185	0	0	0	0	12	185				
CTCFL	140690	broad.mit.edu	37	20	56099082	56099082	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:56099082G>A	ENST00000608263.1	-	1	841	c.180C>T	c.(178-180)gtC>gtT	p.V60V	CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000243914.3_Silent_p.V60V|CTCFL_ENST00000423479.3_Silent_p.V60V|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608425.1_Silent_p.V60V|CTCFL_ENST00000609232.1_Silent_p.V60V|CTCFL_ENST00000432255.2_Silent_p.V60V|CTCFL_ENST00000371196.2_Silent_p.V60V|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608158.1_Silent_p.V60V|CTCFL_ENST00000608440.1_Silent_p.V60V|CTCFL_ENST00000429804.3_Silent_p.V60V|CTCFL_ENST00000422869.2_Silent_p.V60V|CTCFL_ENST00000481655.2_Silent_p.V60V	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	60					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTCCTCCAGGACGCTGTCCT	0.587																																						uc010gix.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(178-180)GTC>GTT		CCCTC-binding factor-like protein							122.0	131.0	128.0					20																	56099082		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099082G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.180C>T	20.37:g.56099082G>A						CTCFL_uc010giw.1_Silent_p.V60V|CTCFL_uc002xym.2_Silent_p.V60V|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.V60V|CTCFL_uc010gjb.1_Silent_p.V60V|CTCFL_uc010gjc.1_Silent_p.V60V|CTCFL_uc010gjd.1_Silent_p.V60V|CTCFL_uc010gje.2_Silent_p.V60V|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.V60V|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Silent_p.V60V|CTCFL_uc010gjk.1_Silent_p.V60V|CTCFL_uc010gjl.1_Silent_p.V60V	p.V60V	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	842	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		60					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.180C>T	CCDS13459.1																																																																																				0.587	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		134	284	0	0	0	0	134	284				
IFNAR2	3455	broad.mit.edu	37	21	34635244	34635244	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr21:34635244G>T	ENST00000342136.4	+	9	1313	c.987G>T	c.(985-987)gcG>gcT	p.A329A	IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Silent_p.A329A|IFNAR2_ENST00000404220.3_3'UTR|IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	329					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CTGAGGCAGCGCCCAGGACAA	0.498																																						uc002yrd.2		NA																	0					0						c.(985-987)GCG>GCT		interferon alpha/beta receptor 2 isoform a	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						98.0	102.0	101.0					21																	34635244		2203	4300	6503	SO:0001819	synonymous_variant	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34635244G>T		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.987G>T	21.37:g.34635244G>T						IFNAR2_uc002yre.2_Silent_p.A329A|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron	p.A329A	NM_207585	NP_997468	P48551	INAR2_HUMAN			9	1315	+			329			Cytoplasmic (Potential).		A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Silent	SNP	ENST00000342136.4	37	c.987G>T	CCDS13621.1																																																																																				0.498	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			7	183	1	0	5.18e-06	5.36e-06	7	183				
TFIP11	24144	broad.mit.edu	37	22	26894918	26894918	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:26894918G>A	ENST00000407690.1	-	10	1636	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.I451I|TFIP11_ENST00000405938.1_Silent_p.I451I|TFIP11_ENST00000407431.1_Silent_p.I451I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	451					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ACTTAGAGATGATCTCGGTGC	0.552																																						uc003acr.2		NA																	0					0						c.(1351-1353)ATC>ATT		tuftelin interacting protein 11							163.0	156.0	159.0					22																	26894918		2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26894918G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1353C>T	22.37:g.26894918G>A						TFIP11_uc003acs.2_Silent_p.I451I|TFIP11_uc003act.2_Silent_p.I451I	p.I451I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			9	1727	-			451					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.1353C>T	CCDS13838.1																																																																																				0.552	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		19	333	0	0	0	0	19	333				
TFIP11	24144	broad.mit.edu	37	22	26895394	26895394	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:26895394G>A	ENST00000407690.1	-	9	1288	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.I335I|TFIP11_ENST00000405938.1_Silent_p.I335I|TFIP11_ENST00000407431.1_Silent_p.I335I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	335					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CATTCTGGATGATCTCCTGCT	0.622																																						uc003acr.2		NA																	0					0						c.(1003-1005)ATC>ATT		tuftelin interacting protein 11							104.0	88.0	93.0					22																	26895394		2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26895394G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1005C>T	22.37:g.26895394G>A						TFIP11_uc003acs.2_Silent_p.I335I|TFIP11_uc003act.2_Silent_p.I335I	p.I335I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			8	1379	-			335					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.1005C>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449239	0.26074	.	.	ENSG00000100109	ENST00000450493	.	.	.	5.57	4.56	0.56223	.	.	.	.	.	T	0.69296	0.3095	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68334	-0.5436	4	.	.	.	-43.9288	13.4522	0.61178	0.0756:0.0:0.9244:0.0	.	.	.	.	L	186	.	.	S	-	2	0	TFIP11	25225394	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.954000	0.63631	1.338000	0.45544	0.655000	0.94253	TCA		0.622	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		5	216	0	0	0	0	5	216				
BPIFC	254240	broad.mit.edu	37	22	32828417	32828417	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:32828417G>C	ENST00000397452.1	-	11	1202	c.1092C>G	c.(1090-1092)atC>atG	p.I364M	BPIFC_ENST00000534972.1_Missense_Mutation_p.I88M|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.I364M			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	364						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGAGCATCATGATGGAGGCAG	0.517																																						uc003amn.2		NA																	0				ovary(1)|skin(1)	2						c.(1090-1092)ATC>ATG		bactericidal/permeability-increasing							279.0	251.0	260.0					22																	32828417		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32828417G>C	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1092C>G	22.37:g.32828417G>C	ENSP00000380594:p.Ile364Met					BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.I88M	p.I364M	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			10	1092	-			364					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1092C>G	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432736	0.62844	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.08896	3.04;3.04;3.04	5.86	4.65	0.58169	.	0.245100	0.43416	D	0.000580	T	0.11153	0.0272	M	0.70275	2.135	0.28367	N	0.920181	B	0.30068	0.267	B	0.31290	0.127	T	0.04781	-1.0927	10	0.33940	T	0.23	-13.7824	9.1582	0.37005	0.1472:0.0:0.8528:0.0	.	364	Q8NFQ6	BPIFC_HUMAN	M	364;364;88	ENSP00000380594:I364M;ENSP00000300399:I364M;ENSP00000439123:I88M	ENSP00000300399:I364M	I	-	3	3	BPIFC	31158417	0.283000	0.24277	0.987000	0.45799	0.971000	0.66376	0.222000	0.17699	2.781000	0.95711	0.650000	0.86243	ATC		0.517	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		6	161	0	0	0	0	6	161				
CDC42EP1	11135	broad.mit.edu	37	22	37962692	37962692	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:37962692C>G	ENST00000249014.4	+	2	756	c.336C>G	c.(334-336)atC>atG	p.I112M		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	112					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CACCGGCCATCTCCCCCATCA	0.682																																						uc003asz.3		NA																	0					0						c.(334-336)ATC>ATG		CDC42 effector protein 1							69.0	69.0	69.0					22																	37962692		2203	4298	6501	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962692C>G	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.336C>G	22.37:g.37962692C>G	ENSP00000249014:p.Ile112Met						p.I112M	NM_152243	NP_689449	Q00587	BORG5_HUMAN			2	739	+	Melanoma(58;0.0574)		112					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.336C>G	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473246	0.43942	.	.	ENSG00000128283	ENST00000249014	T	0.32753	1.44	5.22	3.1	0.35709	.	0.488813	0.20194	N	0.097250	T	0.30230	0.0758	L	0.50333	1.59	0.27545	N	0.950669	P	0.49961	0.93	P	0.45506	0.483	T	0.08973	-1.0696	10	0.41790	T	0.15	-6.3501	9.4678	0.38824	0.0:0.6578:0.2697:0.0725	.	112	Q00587	BORG5_HUMAN	M	112	ENSP00000249014:I112M	ENSP00000249014:I112M	I	+	3	3	CDC42EP1	36292638	0.998000	0.40836	0.875000	0.34327	0.872000	0.50106	0.665000	0.25083	0.577000	0.29470	0.563000	0.77884	ATC		0.682	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		5	189	0	0	0	0	5	189				
LGALS1	3956	broad.mit.edu	37	22	38073070	38073070	+	Missense_Mutation	SNP	G	G	C	rs572130887		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:38073070G>C	ENST00000215909.5	+	2	182	c.87G>C	c.(85-87)aaG>aaC	p.K29N	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	29	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CTGACGCTAAGAGGTGAGAAG	0.667																																					Pancreas(23;406 890 14304 26016)	uc003atn.2		NA																	0					0						c.(85-87)AAG>AAC		galectin-1							76.0	58.0	64.0					22																	38073070		2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38073070G>C		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.87G>C	22.37:g.38073070G>C	ENSP00000215909:p.Lys29Asn						p.K29N	NM_002305	NP_002296	P09382	LEG1_HUMAN			2	184	+	Melanoma(58;0.0574)		29			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.87G>C	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049103	0.36181	.	.	ENSG00000100097	ENST00000215909	T	0.05786	3.39	5.39	0.865	0.19074	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.240515	0.42821	D	0.000645	T	0.06826	0.0174	L	0.41027	1.25	0.47905	D	0.999542	P	0.38745	0.645	P	0.45506	0.483	T	0.42916	-0.9423	10	0.34782	T	0.22	.	4.5094	0.11903	0.2517:0.0:0.5945:0.1538	.	29	P09382	LEG1_HUMAN	N	29	ENSP00000215909:K29N	ENSP00000215909:K29N	K	+	3	2	LGALS1	36403016	1.000000	0.71417	0.998000	0.56505	0.272000	0.26649	1.222000	0.32515	0.060000	0.16281	-0.150000	0.13652	AAG		0.667	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		4	63	0	0	0	0	4	63				
EIF3L	51386	broad.mit.edu	37	22	38254699	38254699	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:38254699G>C	ENST00000412331.2	+	5	969	c.387G>C	c.(385-387)ctG>ctC	p.L129L	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Silent_p.L129L|EIF3L_ENST00000406934.1_Silent_p.L31L	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGTCTTCCTGATTTTATACA	0.378																																						uc003auf.2		NA																	0				ovary(1)	1						c.(385-387)CTG>CTC		eukaryotic translation initiation factor 3							215.0	223.0	220.0					22																	38254699		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38254699G>C	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.387G>C	22.37:g.38254699G>C						EIF3L_uc003aue.1_Silent_p.L129L|EIF3L_uc011ann.1_Silent_p.L129L|EIF3L_uc003aug.2_Silent_p.L21L	p.L129L	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			5	474	+			129						Silent	SNP	ENST00000412331.2	37	c.387G>C	CCDS13960.1																																																																																				0.378	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		16	556	0	0	0	0	16	556				
TAB1	10454	broad.mit.edu	37	22	39814772	39814772	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:39814772G>C	ENST00000216160.6	+	6	648	c.586G>C	c.(586-588)Gat>Cat	p.D196H	TAB1_ENST00000331454.3_Missense_Mutation_p.D196H	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	196	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ATCGACAGTGGATGGGTTGCA	0.527																																						uc003axt.2		NA																	0				breast(1)	1						c.(586-588)GAT>CAT		mitogen-activated protein kinase kinase kinase 7							159.0	121.0	134.0					22																	39814772		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB 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	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39814772G>C	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.586G>C	22.37:g.39814772G>C	ENSP00000216160:p.Asp196His					TAB1_uc003axr.2_Missense_Mutation_p.D272H|TAB1_uc011aok.1_Missense_Mutation_p.D30H|TAB1_uc003axu.1_Missense_Mutation_p.D196H	p.D196H	NM_006116	NP_006107	Q15750	TAB1_HUMAN			6	635	+			196			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.586G>C	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106105	0.77096	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.18016	2.24;2.24	4.89	4.89	0.63831	Protein phosphatase 2C-like (4);	0.063541	0.64402	D	0.000011	T	0.36799	0.0980	L	0.47716	1.5	0.80722	D	1	P;D;D	0.89917	0.573;1.0;1.0	B;D;D	0.83275	0.112;0.954;0.996	T	0.03728	-1.1009	10	0.48119	T	0.1	-15.2028	18.2498	0.89998	0.0:0.0:1.0:0.0	.	196;196;340	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	H	196	ENSP00000216160:D196H;ENSP00000333049:D196H	ENSP00000216160:D196H	D	+	1	0	TAB1	38144718	1.000000	0.71417	0.983000	0.44433	0.710000	0.40934	8.145000	0.89625	2.539000	0.85634	0.655000	0.94253	GAT		0.527	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		40	94	0	0	0	0	40	94				
MAPK12	6300	broad.mit.edu	37	22	50695547	50695547	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:50695547G>C	ENST00000215659.8	-	4	705	c.390C>G	c.(388-390)atC>atG	p.I130M	MAPK12_ENST00000395780.1_Missense_Mutation_p.I50M|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGAACTGGATCCGGTCCT	0.667																																						uc003bkm.1		NA																	0					0						c.(388-390)ATC>ATG		mitogen-activated protein kinase 12							91.0	78.0	83.0					22																	50695547		2203	4300	6503	SO:0001583	missense	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50695547G>C	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.390C>G	22.37:g.50695547G>C	ENSP00000215659:p.Ile130Met					MAPK12_uc003bkn.2_Translation_Start_Site|MAPK12_uc003bko.2_Missense_Mutation_p.I50M|MAPK12_uc003bkl.1_Missense_Mutation_p.I130M|MAPK12_uc003bkp.2_5'Flank|MAPK12_uc003bkq.2_Intron	p.I130M	NM_002969	NP_002960	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	541	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	130			Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Missense_Mutation	SNP	ENST00000215659.8	37	c.390C>G	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542682	0.65198	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.68765	-0.35;-0.35	4.71	3.68	0.42216	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.285280	0.19234	U	0.119337	T	0.70116	0.3187	L	0.31120	0.905	0.80722	D	1	P;P;P	0.36768	0.563;0.569;0.507	P;P;P	0.54174	0.502;0.744;0.453	T	0.73225	-0.4050	10	0.87932	D	0	-13.5113	13.8618	0.63566	0.0:0.1545:0.8455:0.0	.	50;130;130	B5MDL5;P53778;F6TXG5	.;MK12_HUMAN;.	M	130;50;130	ENSP00000379126:I50M;ENSP00000215659:I130M	ENSP00000215659:I130M	I	-	3	3	MAPK12	49037674	1.000000	0.71417	0.982000	0.44146	0.904000	0.53231	2.033000	0.41136	1.198000	0.43158	0.491000	0.48974	ATC		0.667	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		7	98	0	0	0	0	7	98				
SBF1	6305	broad.mit.edu	37	22	50898407	50898407	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:50898407G>C	ENST00000390679.3	-	26	3649	c.3465C>G	c.(3463-3465)gtC>gtG	p.V1155V	SBF1_ENST00000348911.6_Silent_p.V1156V|SBF1_ENST00000380817.3_Silent_p.V1155V|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1155	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACATGCGGTTGACCGGAGAAA	0.677																																						uc003blh.2		NA																	0					0						c.(3463-3465)GTC>GTG		SET binding factor 1							44.0	50.0	48.0					22																	50898407		2091	4238	6329	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898407G>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3465C>G	22.37:g.50898407G>C						SBF1_uc011arx.1_Silent_p.V819V	p.V1155V	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	26	3660	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1155			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.3465C>G																																																																																					0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	155	0	0	0	0	5	155				
EDEM1	9695	broad.mit.edu	37	3	5243458	5243458	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:5243458C>T	ENST00000256497.4	+	4	840	c.707C>T	c.(706-708)tCt>tTt	p.S236F	EDEM1_ENST00000445686.1_Missense_Mutation_p.S41F	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	236					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.S236F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGCCTCCTTTCTGCTCACAGA	0.408																																						uc003bqi.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(706-708)TCT>TTT		ER degradation enhancer, mannosidase alpha-like							135.0	127.0	130.0					3																	5243458		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5243458C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.707C>T	3.37:g.5243458C>T	ENSP00000256497:p.Ser236Phe					EDEM1_uc011asz.1_Missense_Mutation_p.S14F|EDEM1_uc003bqh.2_Missense_Mutation_p.S236F	p.S236F	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	4	839	+			236			Lumenal (Potential).		A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.707C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147601	0.94603	.	.	ENSG00000134109	ENST00000419550;ENST00000256497;ENST00000445686	T;T	0.81330	-1.48;-1.48	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	H	0.98487	4.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.997	D	0.96310	0.9228	10	0.87932	D	0	-20.0024	19.4986	0.95083	0.0:1.0:0.0:0.0	.	41;236;14	B4DXP3;Q92611;B4DPV5	.;EDEM1_HUMAN;.	F	14;236;41	ENSP00000256497:S236F;ENSP00000394099:S41F	ENSP00000256497:S236F	S	+	2	0	EDEM1	5218458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.302000	0.78861	2.598000	0.87819	0.650000	0.86243	TCT		0.408	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		85	144	0	0	0	0	85	144				
RAF1	5894	broad.mit.edu	37	3	12660106	12660106	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:12660106G>C	ENST00000251849.4	-	2	554	c.115C>G	c.(115-117)Cag>Gag	p.Q39E	RAF1_ENST00000542177.1_De_novo_Start_InFrame|RAF1_ENST00000442415.2_Missense_Mutation_p.Q39E	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	39					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCCCGGCGCTGATAGCCAAAC	0.473			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													uc003bxf.3		NA		Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|SRGAP3/RAF1(4)	0				central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14						c.(115-117)CAG>GAG		v-raf-1 murine leukemia viral oncogene homolog	Sorafenib(DB00398)						133.0	122.0	126.0					3																	12660106		2203	4300	6503	SO:0001583	missense	5894	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12660106G>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.115C>G	3.37:g.12660106G>C	ENSP00000251849:p.Gln39Glu					RAF1_uc011auu.1_Translation_Start_Site	p.Q39E	NM_002880	NP_002871	P04049	RAF1_HUMAN			2	530	-			39					B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.115C>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365199	0.82463	.	.	ENSG00000132155	ENST00000251849;ENST00000442415	T;T	0.75477	-0.91;-0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	L	0.32530	0.975	0.80722	D	1	P	0.36483	0.555	B	0.33799	0.17	T	0.61549	-0.7040	10	0.20519	T	0.43	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	39	P04049	RAF1_HUMAN	E	39	ENSP00000251849:Q39E;ENSP00000401888:Q39E	ENSP00000251849:Q39E	Q	-	1	0	RAF1	12635106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.478000	0.81082	2.941000	0.99782	0.655000	0.94253	CAG		0.473	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		13	201	0	0	0	0	13	201				
EPM2AIP1	9852	broad.mit.edu	37	3	37033799	37033799	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:37033799G>A	ENST00000322716.5	-	1	996	c.770C>T	c.(769-771)tCa>tTa	p.S257L	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	257					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GACGAGTCCTGAGTTCTCACC	0.473																																						uc003cgk.2		NA																	0					0						c.(769-771)TCA>TTA		EPM2A interacting protein 1							136.0	133.0	134.0					3																	37033799		1942	4138	6080	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033799G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.770C>T	3.37:g.37033799G>A	ENSP00000406027:p.Ser257Leu					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.S257L	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	997	-			257					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.770C>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087383	0.55968	.	.	ENSG00000178567	ENST00000322716	T	0.16196	2.36	5.0	4.09	0.47781	.	.	.	.	.	T	0.11965	0.0291	N	0.19112	0.55	0.24942	N	0.991848	B	0.33171	0.4	B	0.36808	0.233	T	0.12578	-1.0542	9	0.37606	T	0.19	-6.3731	7.6208	0.28183	0.0:0.1883:0.6394:0.1722	.	257	Q7L775	EPMIP_HUMAN	L	257	ENSP00000406027:S257L	ENSP00000406027:S257L	S	-	2	0	EPM2AIP1	37008803	0.836000	0.29430	0.980000	0.43619	0.956000	0.61745	1.016000	0.29976	2.592000	0.87571	0.557000	0.71058	TCA		0.473	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		13	302	0	0	0	0	13	302				
DLEC1	9940	broad.mit.edu	37	3	38101288	38101288	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:38101288G>A	ENST00000308059.6	+	3	639	c.618G>A	c.(616-618)ttG>ttA	p.L206L	DLEC1_ENST00000452631.2_Silent_p.L206L|DLEC1_ENST00000346219.3_Silent_p.L206L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AACATCATTTGATCTCCCCAG	0.478																																						uc003cho.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(616-618)TTG>TTA		deleted in lung and esophageal cancer 1 isoform							212.0	205.0	207.0					3																	38101288		1925	4141	6066	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38101288G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.618G>A	3.37:g.38101288G>A						DLEC1_uc003chp.1_Silent_p.L206L|DLEC1_uc010hgv.1_Silent_p.L206L|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	p.L206L	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	3	639	+			206						Silent	SNP	ENST00000308059.6	37	c.618G>A	CCDS2672.2																																																																																				0.478	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		21	444	0	0	0	0	21	444				
ZNF197	10168	broad.mit.edu	37	3	44684611	44684611	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:44684611G>C	ENST00000396058.1	+	5	2156	c.1989G>C	c.(1987-1989)aaG>aaC	p.K663N	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.K663N			O14709	ZN197_HUMAN	zinc finger protein 197	663					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTCTGAAGAAGAGCCTCATTT	0.403																																						uc003cnm.2		NA																	0				ovary(3)|skin(1)	4						c.(1987-1989)AAG>AAC		zinc finger protein 197 isoform 1							62.0	64.0	63.0					3																	44684611		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684611G>C	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1989G>C	3.37:g.44684611G>C	ENSP00000379370:p.Lys663Asn					ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	p.K663N	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	2195	+			663			C2H2-type 11.		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.1989G>C	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938189	0.34189	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.07800	3.16;3.16	4.51	0.218	0.15270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36338	U	0.002647	T	0.05502	0.0145	N	0.11651	0.15	0.09310	N	1	P	0.46859	0.885	P	0.45881	0.496	T	0.32929	-0.9888	10	0.66056	D	0.02	.	8.7018	0.34329	0.4811:0.0:0.5189:0.0	.	663	O14709	ZN197_HUMAN	N	663	ENSP00000345809:K663N;ENSP00000379370:K663N	ENSP00000345809:K663N	K	+	3	2	ZNF197	44659615	0.050000	0.20438	0.997000	0.53966	0.991000	0.79684	0.296000	0.19083	-0.079000	0.12707	-0.262000	0.10625	AAG		0.403	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		3	95	0	0	0	0	3	95				
MAP4	4134	broad.mit.edu	37	3	47894525	47894525	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:47894525G>C	ENST00000360240.6	-	19	3974	c.3456C>G	c.(3454-3456)atC>atG	p.I1152M	MAP4_ENST00000426837.2_Missense_Mutation_p.I2297M|MAP4_ENST00000383737.4_Missense_Mutation_p.I811M|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.I887M|MAP4_ENST00000395734.3_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	1152					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GTCATCATTAGATGCCTGGAA	0.502																																						uc003csb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(3454-3456)ATC>ATG		microtubule-associated protein 4 isoform 1							122.0	136.0	131.0					3																	47894525		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47894525G>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.3456C>G	3.37:g.47894525G>C	ENSP00000353375:p.Ile1152Met					MAP4_uc003csc.3_Intron|MAP4_uc003crw.2_Missense_Mutation_p.I231M|MAP4_uc003crx.2_Missense_Mutation_p.I328M|MAP4_uc011bbe.1_Intron|MAP4_uc003cry.2_Missense_Mutation_p.I887M|MAP4_uc003csa.3_Intron|MAP4_uc003crz.3_RNA	p.I1152M	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	19	3982	-			1152					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.3456C>G	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567634	0.65651	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000426837;ENST00000360240	T;T;T;T	0.36878	2.83;1.23;2.98;2.93	4.49	4.49	0.54785	.	.	.	.	.	T	0.44746	0.1308	N	0.14661	0.345	0.28130	N	0.930245	D;D;D	0.71674	0.998;0.998;0.98	D;D;D	0.79784	0.966;0.993;0.948	T	0.48364	-0.9042	9	0.87932	D	0	.	16.1466	0.81577	0.0:0.0:1.0:0.0	.	1152;811;2297	P27816;B9ZVR1;E7EVA0	MAP4_HUMAN;.;.	M	811;887;2297;1152	ENSP00000373243:I811M;ENSP00000264724:I887M;ENSP00000407602:I2297M;ENSP00000353375:I1152M	ENSP00000264724:I887M	I	-	3	3	MAP4	47869529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.041000	0.64196	2.017000	0.59298	0.455000	0.32223	ATC		0.502	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		6	148	0	0	0	0	6	148				
COL7A1	1294	broad.mit.edu	37	3	48624640	48624640	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:48624640G>A	ENST00000328333.8	-	23	3229	c.3122C>T	c.(3121-3123)tCt>tTt	p.S1041F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S1041F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1041	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTGTGACAGATGCCTCAGG	0.597																																						uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(3121-3123)TCT>TTT		alpha 1 type VII collagen precursor							75.0	63.0	67.0					3																	48624640		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48624640G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3122C>T	3.37:g.48624640G>A	ENSP00000332371:p.Ser1041Phe						p.S1041F	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	23	3123	-			1041			Nonhelical region (NC1).|Fibronectin type-III 9.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3122C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	6.680	0.494089	0.12702	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.05258	3.47;3.47	5.95	5.95	0.96441	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.145674	0.31577	N	0.007420	T	0.14184	0.0343	L	0.29908	0.895	0.40763	D	0.983023	D	0.56746	0.977	P	0.58013	0.831	T	0.00380	-1.1776	10	0.87932	D	0	.	18.1427	0.89644	0.0:0.0:1.0:0.0	.	1041	Q02388	CO7A1_HUMAN	F	1041	ENSP00000332371:S1041F;ENSP00000412569:S1041F	ENSP00000332371:S1041F	S	-	2	0	COL7A1	48599644	0.996000	0.38824	0.405000	0.26409	0.017000	0.09413	3.820000	0.55693	2.811000	0.96726	0.655000	0.94253	TCT		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	69	0	0	0	0	3	69				
COL7A1	1294	broad.mit.edu	37	3	48626388	48626388	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:48626388G>A	ENST00000328333.8	-	18	2462	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	COL7A1_ENST00000454817.1_Silent_p.L785L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	785	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAAGCATTGAGGATCTGCA	0.607																																						uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(2353-2355)CTC>CTT		alpha 1 type VII collagen precursor							82.0	77.0	79.0					3																	48626388		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626388G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2355C>T	3.37:g.48626388G>A							p.L785L	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	18	2356	-			785			Nonhelical region (NC1).|Fibronectin type-III 7.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.2355C>T	CCDS2773.1																																																																																				0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		8	167	0	0	0	0	8	167				
USP19	10869	broad.mit.edu	37	3	49155175	49155175	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:49155175G>C	ENST00000398888.2	-	4	705	c.387C>G	c.(385-387)gtC>gtG	p.V129V	USP19_ENST00000398896.1_5'UTR|USP19_ENST00000453664.1_Silent_p.V129V|USP19_ENST00000434032.2_Silent_p.V129V|USP19_ENST00000398898.2_Silent_p.V67V|USP19_ENST00000417901.1_Silent_p.V129V|USP19_ENST00000398892.3_Silent_p.V67V|USP19_ENST00000488993.1_5'UTR	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	129	CS 1. {ECO:0000255|PROSITE- ProRule:PRU00547}.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACGAAGCTTGACAATCACCT	0.527																																						uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(385-387)GTC>GTG		ubiquitin thioesterase 19							142.0	152.0	149.0					3																	49155175		2138	4246	6384	SO:0001819	synonymous_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49155175G>C	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.387C>G	3.37:g.49155175G>C						USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Silent_p.V129V|USP19_uc011bcg.1_Silent_p.V129V|USP19_uc003cwb.2_Silent_p.V114V|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Silent_p.V129V|USP19_uc011bci.1_Silent_p.V114V	p.V129V	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	4	548	-			129			Cytoplasmic (Potential).|CS 1.		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	c.387C>G	CCDS43090.1																																																																																				0.527	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		6	117	0	0	0	0	6	117				
PCBP4	57060	broad.mit.edu	37	3	51993286	51993286	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:51993286G>C	ENST00000461554.1	-	11	990	c.659C>G	c.(658-660)tCa>tGa	p.S220*	PCBP4_ENST00000484633.1_Nonsense_Mutation_p.S177*|PCBP4_ENST00000322099.7_Nonsense_Mutation_p.S220*|PCBP4_ENST00000355852.2_Nonsense_Mutation_p.S220*|PCBP4_ENST00000395014.2_Nonsense_Mutation_p.S241*|PCBP4_ENST00000428823.2_Nonsense_Mutation_p.S177*|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000471622.1_Nonsense_Mutation_p.S220*|PCBP4_ENST00000395013.3_Nonsense_Mutation_p.S60*	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	220						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCATGGCTTGAGAGCTGCTG	0.632																																						uc003dcd.1		NA																	0					0						c.(658-660)TCA>TGA		poly(rC) binding protein 4 isoform c							95.0	70.0	79.0					3																	51993286		2203	4300	6503	SO:0001587	stop_gained	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51993286G>C	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.659C>G	3.37:g.51993286G>C	ENSP00000417196:p.Ser220*					PCBP4_uc003dcb.1_Nonsense_Mutation_p.S186*|PCBP4_uc003dcc.1_Nonsense_Mutation_p.S241*|PCBP4_uc003dce.1_Silent_p.L221L|PCBP4_uc003dcf.1_Nonsense_Mutation_p.S220*|PCBP4_uc003dcg.1_Nonsense_Mutation_p.S186*|PCBP4_uc003dch.1_Nonsense_Mutation_p.S220*|PCBP4_uc003dci.1_Nonsense_Mutation_p.S60*|PCBP4_uc003dcj.1_Nonsense_Mutation_p.S220*|PCBP4_uc003dck.1_Nonsense_Mutation_p.S177*|PCBP4_uc003dcl.1_Nonsense_Mutation_p.S220*	p.S220*	NM_033010	NP_127503	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1055	-			220					Q96AH7	Nonsense_Mutation	SNP	ENST00000461554.1	37	c.659C>G	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	G	37	6.229965	0.97394	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192	.	.	.	4.63	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-8.4964	11.7139	0.51641	0.0:0.179:0.821:0.0	.	.	.	.	X	220;220;220;177;60;177;241;220;220	.	ENSP00000294192:S220X	S	-	2	0	PCBP4	51968326	0.999000	0.42202	0.995000	0.50966	0.976000	0.68499	4.047000	0.57383	2.271000	0.75665	0.563000	0.77884	TCA		0.632	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		24	49	0	0	0	0	24	49				
PHF7	51533	broad.mit.edu	37	3	52446916	52446916	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:52446916G>C	ENST00000327906.3	+	2	681	c.21G>C	c.(19-21)aaG>aaC	p.K7N	PHF7_ENST00000482327.1_3'UTR|BAP1_ENST00000460680.1_5'Flank|PHF7_ENST00000347025.2_Missense_Mutation_p.K7N|BAP1_ENST00000296288.5_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	7						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TAAAAGAAAAGAAGGAATGCC	0.413																																						uc003ddy.2		NA																	0				breast(1)	1						c.(19-21)AAG>AAC		PHD finger protein 7 isoform 1							139.0	128.0	132.0					3																	52446916		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52446916G>C	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.21G>C	3.37:g.52446916G>C	ENSP00000333024:p.Lys7Asn					BAP1_uc003ddx.2_5'Flank|PHF7_uc003ddz.2_Missense_Mutation_p.K7N	p.K7N	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	2	827	+			7					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.21G>C	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353867	0.61293	.	.	ENSG00000010318	ENST00000462532;ENST00000478707;ENST00000327906;ENST00000347025	D;D;D	0.93133	-2.3;-2.3;-3.17	4.49	3.6	0.41247	.	0.612028	0.15399	N	0.264383	D	0.94215	0.8143	L	0.40543	1.245	0.32006	N	0.602715	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	D	0.92935	0.6367	10	0.62326	D	0.03	-3.6165	10.8323	0.46667	0.0:0.1902:0.8098:0.0	.	7;7	A8K856;Q9BWX1	.;PHF7_HUMAN	N	7	ENSP00000419316:K7N;ENSP00000333024:K7N;ENSP00000246282:K7N	ENSP00000333024:K7N	K	+	3	2	PHF7	52421956	1.000000	0.71417	0.978000	0.43139	0.902000	0.53008	1.183000	0.32041	1.208000	0.43306	0.655000	0.94253	AAG		0.413	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		3	31	0	0	0	0	3	31				
FAM208A	23272	broad.mit.edu	37	3	56667379	56667379	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:56667379G>C	ENST00000493960.2	-	18	3450	c.3440C>G	c.(3439-3441)tCt>tGt	p.S1147C	FAM208A_ENST00000431842.2_Missense_Mutation_p.S710C|FAM208A_ENST00000355628.5_Missense_Mutation_p.S1086C	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1147							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTGCTCATCAGAGTTGGTATC	0.423																																						uc003did.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3256-3258)TCT>TGT		retinoblastoma-associated protein 140 isoform b							163.0	154.0	157.0					3																	56667379		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56667379G>C	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3440C>G	3.37:g.56667379G>C	ENSP00000417509:p.Ser1147Cys					C3orf63_uc003dib.3_Missense_Mutation_p.S205C|C3orf63_uc003dic.3_Missense_Mutation_p.S710C|C3orf63_uc003die.3_Missense_Mutation_p.S1147C	p.S1086C	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	17	3358	-			1147					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.3257C>G	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751624	0.69533	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.16743	2.32;2.52;2.5	5.71	5.71	0.89125	.	0.190410	0.37857	N	0.001919	T	0.41465	0.1160	L	0.59436	1.845	0.49915	D	0.999838	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.74348	0.965;0.927;0.983;0.922	T	0.04593	-1.0940	10	0.59425	D	0.04	-11.2592	20.2245	0.98337	0.0:0.0:1.0:0.0	.	1147;1086;710;1147	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	C	710;1147;1086	ENSP00000399410:S710C;ENSP00000417509:S1147C;ENSP00000347845:S1086C	ENSP00000347845:S1086C	S	-	2	0	C3orf63	56642419	0.032000	0.19561	0.333000	0.25482	0.937000	0.57800	1.846000	0.39289	2.861000	0.98227	0.650000	0.86243	TCT		0.423	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		20	309	0	0	0	0	20	309				
ADAMTS9	56999	broad.mit.edu	37	3	64526833	64526833	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:64526833G>A	ENST00000498707.1	-	36	5801	c.5459C>T	c.(5458-5460)aCg>aTg	p.T1820M	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T1792M	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1820	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCAGCGGCCGTGTAATCCTT	0.468																																						uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(5458-5460)ACG>ATG		ADAM metallopeptidase with thrombospondin type 1							87.0	86.0	86.0					3																	64526833		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526833G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5459C>T	3.37:g.64526833G>A	ENSP00000418735:p.Thr1820Met					ADAMTS9_uc011bfo.1_Missense_Mutation_p.T1792M|ADAMTS9_uc011bfp.1_Missense_Mutation_p.T731M	p.T1820M	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	36	5491	-		Lung NSC(201;0.00682)	1820			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5459C>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.369586|4.369586	0.82463|0.82463	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.16897	.|2.31;2.31	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Peptidase M12B, GON-ADAMTSs (2);	.|0.064535	.|0.64402	.|D	.|0.000005	T|T	0.26919|0.26919	0.0659|0.0659	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P;P	.|0.44478	.|0.836;0.836	.|P;P	.|0.44623	.|0.455;0.455	T|T	0.00492|0.00492	-1.1707|-1.1707	5|10	.|0.41790	.|T	.|0.15	.|.	19.9036|19.9036	0.96999|0.96999	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1792;1820	.|B7ZVX9;Q9P2N4	.|.;ATS9_HUMAN	W|M	876|1792;1820	.|ENSP00000295903:T1792M;ENSP00000418735:T1820M	.|ENSP00000295903:T1792M	R|T	-|-	1|2	2|0	ADAMTS9|ADAMTS9	64501873|64501873	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.869000|0.869000	0.49853|0.49853	5.966000|5.966000	0.70395|0.70395	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.468	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			57	101	0	0	0	0	57	101				
OR5H6	79295	broad.mit.edu	37	3	97983460	97983460	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:97983460C>G	ENST00000383696.2	+	1	373	c.332C>G	c.(331-333)tCt>tGt	p.S111C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATATCTCTCTCTGAATGCATG	0.403																																						uc003dsi.1		NA																	0				skin(2)|large_intestine(1)	3						c.(331-333)TCT>TGT		olfactory receptor, family 5, subfamily H,							115.0	109.0	111.0					3																	97983460		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983460C>G	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.332C>G	3.37:g.97983460C>G	ENSP00000373196:p.Ser111Cys						p.S111C	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	332	+			111			Extracellular (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.332C>G	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	8.706	0.910785	0.17833	.	.	ENSG00000230301	ENST00000383696	T	0.00408	7.54	2.19	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.845359	0.10124	N	0.713030	T	0.00724	0.0024	M	0.67517	2.055	0.09310	N	1	D	0.67145	0.996	P	0.60886	0.88	T	0.55173	-0.8182	10	0.46703	T	0.11	.	7.4725	0.27357	0.2545:0.7455:0.0:0.0	.	111	Q8NGV6	OR5H6_HUMAN	C	111	ENSP00000373196:S111C	ENSP00000373196:S111C	S	+	2	0	OR5H6	99466150	0.000000	0.05858	0.186000	0.23195	0.024000	0.10985	-2.370000	0.01075	1.220000	0.43490	0.194000	0.17425	TCT		0.403	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			57	150	0	0	0	0	57	150				
KIAA1407	57577	broad.mit.edu	37	3	113724691	113724691	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:113724691G>C	ENST00000295878.3	-	10	1678	c.1532C>G	c.(1531-1533)tCt>tGt	p.S511C	KIAA1407_ENST00000545063.1_Missense_Mutation_p.S342C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	511										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCACTCAGAGAGACATTCTG	0.537																																						uc003eax.2		NA																	0				ovary(2)	2						c.(1531-1533)TCT>TGT		hypothetical protein LOC57577							159.0	160.0	160.0					3																	113724691		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113724691G>C	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1532C>G	3.37:g.113724691G>C	ENSP00000295878:p.Ser511Cys					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.S489C|KIAA1407_uc011bip.1_Missense_Mutation_p.S498C	p.S511C	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			10	1679	-			511					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1532C>G	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660279	0.29515	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.47528	1.44;0.84;0.86	5.23	2.48	0.30137	.	0.706692	0.14080	N	0.342813	T	0.29976	0.0750	N	0.22421	0.69	0.09310	N	1	B;P;B	0.39696	0.373;0.683;0.373	B;B;B	0.36418	0.224;0.224;0.224	T	0.10989	-1.0606	10	0.59425	D	0.04	.	6.5074	0.22202	0.1549:0.2808:0.5643:0.0	.	498;387;511	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	C	511;342;498	ENSP00000295878:S511C;ENSP00000446381:S342C;ENSP00000418099:S498C	ENSP00000295878:S511C	S	-	2	0	KIAA1407	115207381	0.961000	0.32948	0.000000	0.03702	0.003000	0.03518	1.750000	0.38329	0.360000	0.24265	0.655000	0.94253	TCT		0.537	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		8	458	0	0	0	0	8	458				
QTRTD1	79691	broad.mit.edu	37	3	113798772	113798772	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:113798772C>T	ENST00000493014.1	+	4	516	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	QTRTD1_ENST00000281273.4_Missense_Mutation_p.R256W|QTRTD1_ENST00000485050.1_Missense_Mutation_p.R268W|QTRTD1_ENST00000479882.1_Missense_Mutation_p.R133W	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TGGTGTTAGTCGGCCAGATGA	0.428																																						uc003eay.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(766-768)CGG>TGG		queuine tRNA-ribosyltransferase domain							175.0	169.0	171.0					3																	113798772		2203	4300	6503	SO:0001583	missense	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113798772C>T	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.448C>T	3.37:g.113798772C>T	ENSP00000419169:p.Arg150Trp					QTRTD1_uc003eaz.2_Missense_Mutation_p.R268W|QTRTD1_uc011biq.1_Missense_Mutation_p.R133W|QTRTD1_uc011bir.1_Missense_Mutation_p.R150W	p.R256W	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN			8	996	+			256						Missense_Mutation	SNP	ENST00000493014.1	37	c.766C>T	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127966	0.56721	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.58	5.58	0.84498	.	0.364818	0.28760	N	0.014230	T	0.74741	0.3756	M	0.70275	2.135	0.42584	D	0.993229	D;D	0.76494	0.999;0.989	P;P	0.59761	0.863;0.67	T	0.77718	-0.2483	9	0.72032	D	0.01	-0.6577	14.3083	0.66397	0.1847:0.8153:0.0:0.0	.	150;256	B7Z472;Q9H974	.;QTRD1_HUMAN	W	268;256;133;150	.	ENSP00000281273:R256W	R	+	1	2	QTRTD1	115281462	0.998000	0.40836	0.866000	0.34008	0.163000	0.22366	3.708000	0.54845	2.630000	0.89119	0.555000	0.69702	CGG		0.428	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		9	433	0	0	0	0	9	433				
TOPBP1	11073	broad.mit.edu	37	3	133347312	133347312	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:133347312C>G	ENST00000260810.5	-	16	2829	c.2698G>C	c.(2698-2700)Gaa>Caa	p.E900Q		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	900	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGGGGCTTCTTCCTGTCCA	0.373								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NA																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(2698-2700)GAA>CAA	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							96.0	88.0	90.0					3																	133347312		1862	4096	5958	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133347312C>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2698G>C	3.37:g.133347312C>G	ENSP00000260810:p.Glu900Gln					TOPBP1_uc003ept.1_5'UTR	p.E900Q	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			16	2830	-			900			BRCT 6.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.2698G>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215659	0.39102	.	.	ENSG00000163781	ENST00000260810	T	0.13307	2.6	5.31	5.31	0.75309	BRCT (1);	0.655366	0.16744	N	0.201317	T	0.11110	0.0271	L	0.33485	1.01	0.40011	D	0.975283	B	0.13594	0.008	B	0.22601	0.04	T	0.15263	-1.0443	10	0.24483	T	0.36	.	9.2329	0.37448	0.1456:0.7802:0.0:0.0742	.	900	Q92547	TOPB1_HUMAN	Q	900	ENSP00000260810:E900Q	ENSP00000260810:E900Q	E	-	1	0	TOPBP1	134830002	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	2.780000	0.47742	2.628000	0.89032	0.650000	0.86243	GAA		0.373	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		4	42	0	0	0	0	4	42				
MSL2	55167	broad.mit.edu	37	3	135871283	135871283	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:135871283G>A	ENST00000309993.2	-	2	1172	c.440C>T	c.(439-441)tCa>tTa	p.S147L	MSL2_ENST00000434835.2_Missense_Mutation_p.S73L	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	147					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GGATGAATCTGAGGGTTTTTC	0.403																																						uc003eqx.1		NA																	0				central_nervous_system(1)	1						c.(439-441)TCA>TTA		ring finger protein 184 isoform 1							106.0	98.0	101.0					3																	135871283		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135871283G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.440C>T	3.37:g.135871283G>A	ENSP00000311827:p.Ser147Leu					MSL2_uc011bmb.1_Missense_Mutation_p.S73L	p.S147L	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN			2	1173	-			147					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.440C>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858586	0.32791	.	.	ENSG00000174579	ENST00000309993;ENST00000434835;ENST00000481989;ENST00000491050;ENST00000473093	.	.	.	6.03	6.03	0.97812	.	0.193973	0.33813	N	0.004531	T	0.57888	0.2084	L	0.34521	1.04	0.44652	D	0.99763	P	0.50819	0.939	P	0.47744	0.556	T	0.59156	-0.7507	9	0.59425	D	0.04	-6.4815	19.5548	0.95338	0.0:0.0:1.0:0.0	.	147	Q9HCI7	MSL2_HUMAN	L	147;73;73;73;73	.	ENSP00000311827:S147L	S	-	2	0	MSL2	137353973	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.776000	0.75023	2.854000	0.98071	0.655000	0.94253	TCA		0.403	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		6	167	0	0	0	0	6	167				
XRN1	54464	broad.mit.edu	37	3	142074246	142074246	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:142074246C>G	ENST00000264951.4	-	32	3882	c.3765G>C	c.(3763-3765)gaG>gaC	p.E1255D	XRN1_ENST00000392981.2_Missense_Mutation_p.E1255D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1255					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTAACCTTCTCTTGTATAG	0.308																																						uc003eus.2		NA																	0				ovary(3)	3						c.(3763-3765)GAG>GAC		5'-3' exoribonuclease 1 isoform a							87.0	88.0	88.0					3																	142074246		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142074246C>G	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3765G>C	3.37:g.142074246C>G	ENSP00000264951:p.Glu1255Asp					XRN1_uc010huu.2_Missense_Mutation_p.E721D|XRN1_uc003eut.2_Missense_Mutation_p.E1255D|XRN1_uc003euu.2_Missense_Mutation_p.E1255D	p.E1255D	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			32	3832	-			1255					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.3765G>C	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	7.796	0.712567	0.15306	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.31769	1.48;1.48	4.77	3.87	0.44632	.	0.233910	0.44097	N	0.000489	T	0.16811	0.0404	L	0.27053	0.805	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.08534	-1.0717	10	0.16420	T	0.52	-7.3678	4.9292	0.13909	0.1544:0.6168:0.1491:0.0797	.	1255;1255	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	D	1255	ENSP00000264951:E1255D;ENSP00000376707:E1255D	ENSP00000264951:E1255D	E	-	3	2	XRN1	143556936	0.343000	0.24818	1.000000	0.80357	0.344000	0.29017	-0.603000	0.05674	1.096000	0.41439	0.460000	0.39030	GAG		0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		4	199	0	0	0	0	4	199				
PLOD2	5352	broad.mit.edu	37	3	145803008	145803008	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:145803008C>T	ENST00000360060.3	-	11	1357	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	PLOD2_ENST00000494950.1_Missense_Mutation_p.D339N|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.D394N|PLOD2_ENST00000461497.1_Missense_Mutation_p.D54N	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	394					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AAAACAACATCTGCATCCACA	0.284																																						uc003evs.1		NA																	0				ovary(1)|skin(1)	2						c.(1180-1182)GAT>AAT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						69.0	70.0	70.0					3																	145803008		2203	4297	6500	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145803008C>T	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1180G>A	3.37:g.145803008C>T	ENSP00000353170:p.Asp394Asn					PLOD2_uc003evq.1_Missense_Mutation_p.D54N|PLOD2_uc011bnm.1_Missense_Mutation_p.D339N|PLOD2_uc003evr.1_Missense_Mutation_p.D394N	p.D394N	NM_000935	NP_000926	O00469	PLOD2_HUMAN			11	1686	-			394					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1180G>A	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949947	0.73787	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	M	0.68728	2.09	0.80722	D	1	D;P;P;B	0.89917	1.0;0.598;0.749;0.117	D;B;P;B	0.85130	0.997;0.38;0.745;0.134	D	0.98512	1.0619	10	0.45353	T	0.12	-15.9774	20.3368	0.98748	0.0:1.0:0.0:0.0	.	339;394;394;54	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	N	54;394;394;339	ENSP00000419354:D54N;ENSP00000282903:D394N;ENSP00000353170:D394N;ENSP00000420094:D339N	ENSP00000282903:D394N	D	-	1	0	PLOD2	147285698	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.625000	0.83145	2.805000	0.96524	0.655000	0.94253	GAT		0.284	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		28	95	0	0	0	0	28	95				
CPA3	1359	broad.mit.edu	37	3	148583121	148583121	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:148583121G>C	ENST00000296046.3	+	1	79	c.27G>C	c.(25-27)ttG>ttC	p.L9F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	9					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGTGGGTTTGATTGCTACCA	0.463																																						uc003ewm.2		NA																	0				breast(1)|skin(1)	2						c.(25-27)TTG>TTC		carboxypeptidase A3 precursor							243.0	203.0	216.0					3																	148583121		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148583121G>C		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.27G>C	3.37:g.148583121G>C	ENSP00000296046:p.Leu9Phe						p.L9F	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		1	79	+			9					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.27G>C	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609551	0.46527	.	.	ENSG00000163751	ENST00000296046	T	0.12465	2.68	5.89	2.05	0.26809	.	0.443923	0.22724	N	0.056418	T	0.12774	0.0310	L	0.53249	1.67	0.09310	N	1	P	0.48230	0.907	B	0.41988	0.372	T	0.12760	-1.0535	10	0.48119	T	0.1	.	6.5771	0.22573	0.156:0.2932:0.5508:0.0	.	9	P15088	CBPA3_HUMAN	F	9	ENSP00000296046:L9F	ENSP00000296046:L9F	L	+	3	2	CPA3	150065811	0.721000	0.28007	0.015000	0.15790	0.072000	0.16883	0.613000	0.24299	0.375000	0.24679	0.561000	0.74099	TTG		0.463	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		7	160	0	0	0	0	7	160				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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)	p.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	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.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.chr3:178936082G>A		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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	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)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			31	79	0	0	0	0	31	79				
KCNMB3	27094	broad.mit.edu	37	3	178984446	178984446	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:178984446C>T	ENST00000349697.2	-	1	313	c.53G>A	c.(52-54)cGc>cAc	p.R18H	KCNMB3_ENST00000497599.1_Missense_Mutation_p.R18H	NM_171828.1	NP_741979.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	CCTCCCCTGGCGCCTCCGGCT	0.587																																						uc003fjp.1		NA																	0					0						c.(52-54)CGC>CAC		calcium-activated potassium channel beta 3							51.0	50.0	50.0					3																	178984446		2203	4300	6503	SO:0001583	missense	27094				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity	g.chr3:178984446C>T	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000349697.2:c.53G>A	3.37:g.178984446C>T	ENSP00000327866:p.Arg18His					KCNMB3_uc011bqc.1_Missense_Mutation_p.R18H	p.R18H	NM_171828	NP_741979	Q9NPA1	KCMB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		1	393	-	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		Error:Variant_position_missing_in_Q9NPA1_after_alignment					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000349697.2	37	c.53G>A	CCDS3225.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218137	0.58560	.	.	ENSG00000171121	ENST00000497599;ENST00000349697	T;T	0.23147	1.92;2.63	5.45	2.56	0.30785	.	.	.	.	.	T	0.11623	0.0283	N	0.08118	0	0.80722	D	1	B;B	0.18310	0.001;0.027	B;B	0.12837	0.001;0.008	T	0.08764	-1.0706	9	0.44086	T	0.13	.	5.9973	0.19501	0.3394:0.5726:0.0:0.088	.	18;18	E9PER5;Q9NPA1-2	.;.	H	18	ENSP00000417091:R18H;ENSP00000327866:R18H	ENSP00000327866:R18H	R	-	2	0	KCNMB3	180467140	0.122000	0.22280	0.988000	0.46212	0.412000	0.31113	-0.468000	0.06656	1.329000	0.45376	-0.226000	0.12346	CGC		0.587	KCNMB3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358530.1			20	99	0	0	0	0	20	99				
FXR1	8087	broad.mit.edu	37	3	180651167	180651167	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:180651167G>C	ENST00000357559.4	+	2	481	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	FXR1_ENST00000480918.1_Missense_Mutation_p.E20Q|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000445140.2_Missense_Mutation_p.E33Q|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000468861.1_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	33	Agenet-like 1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTTGTTTTTGAAAATAAGTA	0.338																																						uc003fkq.2		NA																	0				breast(1)	1						c.(97-99)GAA>CAA		fragile X mental retardation-related protein 1							92.0	91.0	91.0					3																	180651167		2202	4298	6500	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180651167G>C	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.97G>C	3.37:g.180651167G>C	ENSP00000350170:p.Glu33Gln					FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Missense_Mutation_p.E33Q|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Missense_Mutation_p.E20Q	p.E33Q	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		2	119	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		33					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.97G>C	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965764	0.92855	.	.	ENSG00000114416	ENST00000357559;ENST00000445140;ENST00000480918;ENST00000484042	T;T;T;T	0.51071	1.74;1.08;1.55;0.72	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.85945	2.785	0.80722	D	1	D;D;P	0.67145	0.996;0.996;0.932	D;D;P	0.72075	0.919;0.976;0.877	T	0.76002	-0.3118	10	0.87932	D	0	-19.9991	19.6313	0.95704	0.0:0.0:1.0:0.0	.	20;33;33	B4DXZ6;P51114-2;P51114	.;.;FXR1_HUMAN	Q	33;33;20;37	ENSP00000350170:E33Q;ENSP00000388828:E33Q;ENSP00000418097:E20Q;ENSP00000417513:E37Q	ENSP00000350170:E33Q	E	+	1	0	FXR1	182133861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.339000	0.90041	2.937000	0.99478	0.650000	0.86243	GAA		0.338	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			25	77	0	0	0	0	25	77				
EPHB3	2049	broad.mit.edu	37	3	184294725	184294725	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:184294725G>A	ENST00000330394.2	+	5	1560	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	370	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGCCGGGATGACCTCCTGTA	0.597																																						uc003foz.2		NA																	0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1108-1110)GAC>AAC		ephrin receptor EphB3 precursor							112.0	114.0	113.0					3																	184294725		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294725G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1108G>A	3.37:g.184294725G>A	ENSP00000332118:p.Asp370Asn						p.D370N	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1545	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		370			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1108G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287777	0.95517	.	.	ENSG00000182580	ENST00000330394	T	0.58210	0.35	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	H	0.96111	3.77	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	D	0.87534	0.2454	10	0.87932	D	0	.	18.0153	0.89238	0.0:0.0:1.0:0.0	.	370	P54753	EPHB3_HUMAN	N	370	ENSP00000332118:D370N	ENSP00000332118:D370N	D	+	1	0	EPHB3	185777419	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.754000	0.98908	2.565000	0.86533	0.448000	0.29417	GAC		0.597	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		24	412	0	0	0	0	24	412				
C3orf70	285382	broad.mit.edu	37	3	184801032	184801032	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:184801032C>G	ENST00000335012.2	-	2	706	c.516G>C	c.(514-516)gaG>gaC	p.E172D		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	172										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GTGTATTGCTCTCTTTTGAAA	0.483																																						uc003fpd.2		NA																	0					0						c.(514-516)GAG>GAC		hypothetical protein LOC285382							111.0	108.0	109.0					3																	184801032		2203	4300	6503	SO:0001583	missense	285382							g.chr3:184801032C>G		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.516G>C	3.37:g.184801032C>G	ENSP00000334974:p.Glu172Asp						p.E172D	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			2	707	-			172					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.516G>C	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217367	0.79352	.	.	ENSG00000187068	ENST00000335012	.	.	.	4.98	4.98	0.66077	.	0.222039	0.45126	D	0.000383	T	0.50769	0.1635	N	0.19112	0.55	0.44816	D	0.997822	B	0.21606	0.058	B	0.20184	0.028	T	0.50996	-0.8761	9	0.62326	D	0.03	.	17.8593	0.88776	0.0:1.0:0.0:0.0	.	172	A6NLC5	CC070_HUMAN	D	172	.	ENSP00000334974:E172D	E	-	3	2	C3orf70	186283726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.487000	0.53222	2.314000	0.78098	0.563000	0.77884	GAG		0.483	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		17	159	0	0	0	0	17	159				
TBCCD1	55171	broad.mit.edu	37	3	186274220	186274220	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:186274220C>G	ENST00000424280.1	-	4	1316	c.837G>C	c.(835-837)aaG>aaC	p.K279N	TBCCD1_ENST00000338733.5_Missense_Mutation_p.K279N|TBCCD1_ENST00000446782.1_Missense_Mutation_p.K183N|TBCCD1_ENST00000479590.1_5'Flank	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	279					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AAGCCAATTTCTTTCCAGACT	0.353																																						uc003fqg.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(835-837)AAG>AAC		TBCC domain containing 1							42.0	44.0	44.0					3																	186274220		2202	4299	6501	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186274220C>G	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.837G>C	3.37:g.186274220C>G	ENSP00000411253:p.Lys279Asn					TBCCD1_uc011bry.1_Missense_Mutation_p.K279N|TBCCD1_uc003fqh.2_Missense_Mutation_p.K183N	p.K279N	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	4	966	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		279					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.837G>C	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745752	0.49151	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.85411	-1.97;-1.97;-1.98	5.65	1.94	0.25998	.	0.097674	0.64402	D	0.000001	D	0.85186	0.5639	L	0.56769	1.78	0.43065	D	0.994693	D;P	0.54964	0.969;0.704	P;B	0.54499	0.754;0.273	T	0.80903	-0.1174	10	0.37606	T	0.19	-20.9685	7.7694	0.28999	0.0:0.6028:0.0:0.3972	.	183;279	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	N	279;279;183	ENSP00000411253:K279N;ENSP00000341652:K279N;ENSP00000397091:K183N	ENSP00000341652:K279N	K	-	3	2	TBCCD1	187756914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.735000	0.38176	0.187000	0.20147	0.655000	0.94253	AAG		0.353	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		12	129	0	0	0	0	12	129				
PIGG	54872	broad.mit.edu	37	4	514999	514999	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:514999G>A	ENST00000453061.2	+	7	1375	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	PIGG_ENST00000310340.5_Silent_p.L423L|PIGG_ENST00000383028.4_Silent_p.L290L|PIGG_ENST00000536264.1_Silent_p.L301L|PIGG_ENST00000504346.1_Silent_p.L334L|PIGG_ENST00000509768.1_Silent_p.L334L|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000296306.7_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	423					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCTTGTCCCTGAGTGCACAAG	0.517																																						uc003gak.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1267-1269)CTG>CTA		phosphatidylinositol glycan anchor biosynthesis,							144.0	108.0	120.0					4																	514999		2203	4300	6503	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:514999G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1269G>A	4.37:g.514999G>A						PIGG_uc003gaj.3_Silent_p.L423L|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.L290L|PIGG_uc003gal.3_Silent_p.L334L|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.L301L|PIGG_uc003gam.2_Intron|PIGG_uc003gan.2_Silent_p.L334L	p.L423L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			7	1405	+			423			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.1269G>A	CCDS46992.1																																																																																				0.517	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		7	85	0	0	0	0	7	85				
AFAP1	60312	broad.mit.edu	37	4	7780519	7780519	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:7780519G>A	ENST00000360265.4	-	12	1849	c.1615C>T	c.(1615-1617)Ccc>Tcc	p.P539S	AFAP1_ENST00000382543.3_Missense_Mutation_p.P623S|AFAP1_ENST00000420658.1_Missense_Mutation_p.P623S|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.P539S			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	539						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACAGCCGCGGGATCCGCTTTC	0.527																																						uc003gkg.1		NA																	0					0						c.(1615-1617)CCC>TCC		actin filament associated protein 1							119.0	122.0	121.0					4																	7780519		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7780519G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1615C>T	4.37:g.7780519G>A	ENSP00000353402:p.Pro539Ser					AFAP1_uc011bwk.1_Missense_Mutation_p.P623S|LOC84740_uc003gkd.3_RNA	p.P539S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			13	1888	-			539					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1615C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	9.484	1.098825	0.20552	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.14516	2.51;2.5;2.51;2.5	4.66	-4.32	0.03688	.	1.505000	0.03587	N	0.231201	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26815	-1.0092	10	0.33141	T	0.24	-3.4854	0.0777	0.00028	0.2467:0.2221:0.2065:0.3247	.	623;539	E9PDT7;Q8N556	.;AFAP1_HUMAN	S	539;623;539;623	ENSP00000353402:P539S;ENSP00000410689:P623S;ENSP00000351245:P539S;ENSP00000371983:P623S	ENSP00000351245:P539S	P	-	1	0	AFAP1	7831419	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.526000	0.22971	-1.039000	0.03275	-1.224000	0.01588	CCC		0.527	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		15	147	0	0	0	0	15	147				
DCAF16	54876	broad.mit.edu	37	4	17805694	17805694	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:17805694T>C	ENST00000382247.1	-	3	1131	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_Missense_Mutation_p.Y24C	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	24					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CTCATTTAGGTAACTAATATT	0.438																																						uc003gpn.2		NA																	0				ovary(1)	1						c.(70-72)TAC>TGC		DDB1 and CUL4 associated factor 16							57.0	59.0	58.0					4																	17805694		2203	4300	6503	SO:0001583	missense	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805694T>C	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.71A>G	4.37:g.17805694T>C	ENSP00000371682:p.Tyr24Cys					DCAF16_uc003gpo.2_RNA	p.Y24C	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN			3	1132	-			24					B3KPB7	Missense_Mutation	SNP	ENST00000382247.1	37	c.71A>G	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	T	3.776	-0.046568	0.07407	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.40225	1.04;1.04	3.92	2.73	0.32206	.	.	.	.	.	T	0.22003	0.0530	N	0.08118	0	0.25971	N	0.982499	B	0.13145	0.007	B	0.06405	0.002	T	0.16541	-1.0399	9	0.87932	D	0	-4.451	6.1058	0.20073	0.0:0.1151:0.0:0.8849	.	24	Q9NXF7	DCA16_HUMAN	C	24	ENSP00000371682:Y24C;ENSP00000445736:Y24C	ENSP00000371682:Y24C	Y	-	2	0	DCAF16	17414792	0.976000	0.34144	0.869000	0.34112	0.080000	0.17528	1.242000	0.32755	0.861000	0.35504	-0.379000	0.06801	TAC		0.438	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		6	72	0	0	0	0	6	72				
APBB2	323	broad.mit.edu	37	4	41016054	41016054	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:41016054G>A	ENST00000295974.8	-	6	1010	c.381C>T	c.(379-381)gtC>gtT	p.V127V	APBB2_ENST00000508593.1_Silent_p.V127V|APBB2_ENST00000506352.1_Silent_p.V127V|APBB2_ENST00000513140.1_Silent_p.V127V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	127					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TTATGTTGATGACTGCAGTGG	0.527																																					Ovarian(3;20 75 16686 49997)	uc003gvl.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(379-381)GTC>GTT		amyloid beta A4 precursor protein-binding,							61.0	60.0	60.0					4																	41016054		1892	4127	6019	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41016054G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.381C>T	4.37:g.41016054G>A						APBB2_uc003gvm.2_Silent_p.V127V|APBB2_uc003gvn.2_Silent_p.V127V|APBB2_uc011byt.1_Silent_p.V110V	p.V127V	NM_173075	NP_775098	Q92870	APBB2_HUMAN			6	1011	-			127					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.381C>T	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077070	0.08485	.	.	ENSG00000163697	ENST00000513611	.	.	.	5.54	3.79	0.43588	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48917	-0.8992	4	.	.	.	-3.5897	5.999	0.19509	0.217:0.1396:0.6434:0.0	.	.	.	.	Y	117	.	.	H	-	1	0	APBB2	40710811	0.997000	0.39634	0.884000	0.34674	0.515000	0.34225	1.939000	0.40213	0.685000	0.31468	0.561000	0.74099	CAT		0.527	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		6	175	0	0	0	0	6	175				
ANKRD17	26057	broad.mit.edu	37	4	73951068	73951068	+	Missense_Mutation	SNP	C	C	T	rs139173196		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:73951068C>T	ENST00000358602.4	-	30	7173	c.7057G>A	c.(7057-7059)Gga>Aga	p.G2353R	ANKRD17_ENST00000330838.6_Missense_Mutation_p.G2102R|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G2240R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2353					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCCCAGGTCCGTACATCTGA	0.453																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(7057-7059)GGA>AGA		ankyrin repeat domain protein 17 isoform a		C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	133.0	137.0	136.0		7057,6304	5.8	1.0	4	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ANKRD17	NM_032217.3,NM_198889.1	125,125	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	2353/2604,2102/2353	73951068	2,13004	2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73951068C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7057G>A	4.37:g.73951068C>T	ENSP00000351416:p.Gly2353Arg					ANKRD17_uc003hgo.2_Missense_Mutation_p.G2240R|ANKRD17_uc003hgq.2_Missense_Mutation_p.G2102R|ANKRD17_uc003hgr.2_Missense_Mutation_p.G2352R	p.G2353R	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		30	7174	-	Breast(15;0.000295)		2353					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.7057G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862949	0.51482	2.27E-4	1.16E-4	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.64618	-0.11;-0.08;-0.09	5.81	5.81	0.92471	.	0.176478	0.38663	N	0.001608	T	0.41650	0.1168	N	0.08118	0	0.29789	N	0.83338	P;P;P;P	0.48998	0.918;0.918;0.866;0.641	B;B;B;B	0.39531	0.302;0.302;0.159;0.159	T	0.50558	-0.8814	10	0.52906	T	0.07	.	13.6247	0.62157	0.0:0.9292:0.0:0.0708	.	2352;2102;2353;2240	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	R	2353;1760;2102;2240;737	ENSP00000351416:G2353R;ENSP00000332265:G2102R;ENSP00000427151:G2240R	ENSP00000332265:G2102R	G	-	1	0	ANKRD17	74169932	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.652000	0.37313	2.906000	0.99361	0.655000	0.94253	GGA		0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		18	279	0	0	0	0	18	279				
PDLIM5	10611	broad.mit.edu	37	4	95496979	95496979	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:95496979C>T	ENST00000317968.4	+	5	640	c.504C>T	c.(502-504)gcC>gcT	p.A168A	PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000542407.1_Silent_p.A46A	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	168					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCGTGGCTGCCGTCACTCCTC	0.547																																						uc003hti.2		NA																	0				ovary(1)|skin(1)	2						c.(502-504)GCC>GCT		PDZ and LIM domain 5 isoform a							211.0	169.0	183.0					4																	95496979		2203	4300	6503	SO:0001819	synonymous_variant	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95496979C>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.504C>T	4.37:g.95496979C>T						PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Silent_p.A46A	p.A168A	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	5	655	+		Hepatocellular(203;0.114)	168					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Silent	SNP	ENST00000317968.4	37	c.504C>T	CCDS3641.1																																																																																				0.547	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			7	218	0	0	0	0	7	218				
BANK1	55024	broad.mit.edu	37	4	102993520	102993520	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:102993520A>G	ENST00000322953.4	+	15	2535	c.2261A>G	c.(2260-2262)aAt>aGt	p.N754S	BANK1_ENST00000428908.1_Missense_Mutation_p.N621S|BANK1_ENST00000508653.1_Missense_Mutation_p.N621S|BANK1_ENST00000504592.1_Missense_Mutation_p.N739S|BANK1_ENST00000444316.2_Missense_Mutation_p.N724S	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	754					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ACTGCCCACAATGAAAATAAG	0.254																																						uc003hvy.3		NA																	0				ovary(2)|skin(1)	3						c.(2260-2262)AAT>AGT		B-cell scaffold protein with ankyrin repeats 1							105.0	115.0	112.0					4																	102993520		2201	4299	6500	SO:0001583	missense	55024				B cell activation			g.chr4:102993520A>G	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2261A>G	4.37:g.102993520A>G	ENSP00000320509:p.Asn754Ser					BANK1_uc003hvx.3_Missense_Mutation_p.N739S|BANK1_uc010ill.2_Missense_Mutation_p.N621S|BANK1_uc003hvz.3_Missense_Mutation_p.N724S	p.N754S	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	15	2535	+		Hepatocellular(203;0.217)	754					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2261A>G	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	5.346	0.249155	0.10130	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.17854	2.94;2.93;2.25;2.25;2.94	5.0	1.32	0.21799	.	0.362821	0.26397	N	0.024615	T	0.08802	0.0218	N	0.20986	0.625	0.21967	N	0.999445	B;B;B	0.21753	0.06;0.06;0.06	B;B;B	0.20184	0.028;0.028;0.028	T	0.38845	-0.9642	10	0.13108	T	0.6	.	6.76	0.23536	0.7469:0.0:0.2531:0.0	.	621;754;739	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	S	739;754;621;621;724	ENSP00000421443:N739S;ENSP00000320509:N754S;ENSP00000412748:N621S;ENSP00000422314:N621S;ENSP00000388817:N724S	ENSP00000320509:N754S	N	+	2	0	BANK1	103212543	0.992000	0.36948	0.372000	0.25991	0.153000	0.21895	0.911000	0.28584	0.153000	0.19213	0.528000	0.53228	AAT		0.254	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		6	215	0	0	0	0	6	215				
GLRB	2743	broad.mit.edu	37	4	158073943	158073943	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:158073943G>T	ENST00000264428.4	+	9	1248	c.978G>T	c.(976-978)gtG>gtT	p.V326V	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Silent_p.V326V	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	326					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTTCCTATGTGAAGGCTCTTG	0.488																																						uc003ipj.2		NA																	0				skin(2)	2						c.(976-978)GTG>GTT		glycine receptor, beta isoform A precursor	Glycine(DB00145)						183.0	172.0	176.0					4																	158073943		2203	4300	6503	SO:0001819	synonymous_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158073943G>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.978G>T	4.37:g.158073943G>T							p.V326V	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	9	1180	+	all_hematologic(180;0.24)	Renal(120;0.0458)	326					A8K3K2|D3DP23|F5GWE1	Silent	SNP	ENST00000264428.4	37	c.978G>T	CCDS3796.1																																																																																				0.488	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		8	209	1	0	0.000157383	0.000160895	8	209				
CDKN2AIP	55602	broad.mit.edu	37	4	184367348	184367348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:184367348C>T	ENST00000504169.1	+	3	718	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	171					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGCATCAGCTCAGCAGGAAAA	0.468																																						uc003ivp.1		NA																	0					0						c.(511-513)CAG>TAG		CDKN2A interacting protein							94.0	93.0	93.0					4																	184367348		2203	4300	6503	SO:0001587	stop_gained	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367348C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.511C>T	4.37:g.184367348C>T	ENSP00000427108:p.Gln171*					CDKN2AIP_uc003ivq.1_5'UTR	p.Q171*	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	673	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	171					Q8TBM5|Q9NYH0	Nonsense_Mutation	SNP	ENST00000504169.1	37	c.511C>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204589	0.95033	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.33	4.4	0.53042	.	0.585543	0.16008	N	0.233978	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	2.357	9.0078	0.36122	0.2109:0.6705:0.1186:0.0	.	.	.	.	X	171	.	ENSP00000427108:Q171X	Q	+	1	0	CDKN2AIP	184604342	0.058000	0.20735	1.000000	0.80357	0.396000	0.30629	0.175000	0.16762	1.401000	0.46761	0.655000	0.94253	CAG		0.468	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		5	149	0	0	0	0	5	149				
SNX25	83891	broad.mit.edu	37	4	186272652	186272652	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:186272652G>C	ENST00000504273.1	+	14	2157	c.1863G>C	c.(1861-1863)ttG>ttC	p.L621F	SNX25_ENST00000512853.1_Intron|SNX25_ENST00000264694.8_Missense_Mutation_p.L621F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	621	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ATGCCTTCTTGAGCCCTTCTC	0.418																																						uc003ixh.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1861-1863)TTG>TTC		sorting nexin 25							190.0	176.0	181.0					4																	186272652		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186272652G>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1863G>C	4.37:g.186272652G>C	ENSP00000426255:p.Leu621Phe					SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Missense_Mutation_p.L125F	p.L621F	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	14	2052	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	621			PX.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.1863G>C	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859580	0.71834	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.65916	-0.18;-0.18	5.94	5.94	0.96194	Phox homologous domain (5);	0.000000	0.64402	D	0.000001	T	0.81531	0.4842	M	0.86420	2.815	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83970	0.0326	10	0.87932	D	0	-12.2801	14.5105	0.67784	0.0697:0.0:0.9303:0.0	.	154;621	Q9H5Q8;Q9H3E2	.;SNX25_HUMAN	F	621;621;154	ENSP00000426255:L621F;ENSP00000264694:L621F	ENSP00000264693:L154F	L	+	3	2	SNX25	186509646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.210000	0.51129	2.820000	0.97059	0.650000	0.86243	TTG		0.418	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		18	274	0	0	0	0	18	274				
DNAH5	1767	broad.mit.edu	37	5	13901452	13901452	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:13901452G>A	ENST00000265104.4	-	14	2065	c.1961C>T	c.(1960-1962)gCa>gTa	p.A654V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	654	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGGCTTCTGCCGTGCTTAG	0.562									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1960-1962)GCA>GTA		dynein, axonemal, heavy chain 5							70.0	66.0	67.0					5																	13901452		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13901452G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1961C>T	5.37:g.13901452G>A	ENSP00000265104:p.Ala654Val						p.A654V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			14	2003	-	Lung NSC(4;0.00476)		654			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1961C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	9.172	1.021501	0.19433	.	.	ENSG00000039139	ENST00000265104	T	0.57107	0.42	5.55	1.66	0.24008	Dynein heavy chain, domain-1 (1);	0.957279	0.08760	N	0.897924	T	0.33731	0.0873	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.23440	-1.0188	10	0.30078	T	0.28	.	4.6911	0.12781	0.2104:0.0:0.5286:0.261	.	654	Q8TE73	DYH5_HUMAN	V	654	ENSP00000265104:A654V	ENSP00000265104:A654V	A	-	2	0	DNAH5	13954452	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	0.915000	0.28638	0.267000	0.21916	0.491000	0.48974	GCA		0.562	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	92	0	0	0	0	4	92				
CDH9	1007	broad.mit.edu	37	5	26890572	26890572	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:26890572G>A	ENST00000231021.4	-	8	1527	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTATGCCAAGGAGATGATTC	0.398																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1354-1356)CCT>CTT		cadherin 9, type 2 preproprotein							110.0	110.0	110.0					5																	26890572		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890572G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1355C>T	5.37:g.26890572G>A	ENSP00000231021:p.Pro452Leu					CDH9_uc011cnv.1_Missense_Mutation_p.P45L	p.P452L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			8	1524	-			452			Extracellular (Potential).|Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1355C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050336	0.36181	.	.	ENSG00000113100	ENST00000231021	T	0.61627	0.09	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.264028	0.37348	N	0.002132	T	0.52885	0.1762	L	0.49640	1.575	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.15052	0.012;0.006	T	0.47837	-0.9086	9	.	.	.	.	17.0519	0.86521	0.0:0.0:1.0:0.0	.	45;452	B4DFP0;Q9ULB4	.;CADH9_HUMAN	L	452	ENSP00000231021:P452L	.	P	-	2	0	CDH9	26926329	0.588000	0.26799	1.000000	0.80357	0.964000	0.63967	1.152000	0.31663	2.385000	0.81259	0.453000	0.30009	CCT		0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		10	225	0	0	0	0	10	225				
RAI14	26064	broad.mit.edu	37	5	34814701	34814701	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:34814701C>T	ENST00000265109.3	+	12	1153	c.866C>T	c.(865-867)tCt>tTt	p.S289F	RAI14_ENST00000428746.2_Missense_Mutation_p.S289F|RAI14_ENST00000506376.1_Missense_Mutation_p.S281F|RAI14_ENST00000512629.1_Missense_Mutation_p.S260F|RAI14_ENST00000515799.1_Missense_Mutation_p.S292F|RAI14_ENST00000503673.1_Missense_Mutation_p.S289F|RAI14_ENST00000397449.1_Missense_Mutation_p.S282F	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	289						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTGATGTCTCTTCCCCAAGA	0.363																																						uc003jir.2		NA																	0				ovary(1)	1						c.(865-867)TCT>TTT		retinoic acid induced 14 isoform a							138.0	123.0	128.0					5																	34814701		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814701C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.866C>T	5.37:g.34814701C>T	ENSP00000265109:p.Ser289Phe					RAI14_uc010iur.2_Missense_Mutation_p.S260F|RAI14_uc011coj.1_Missense_Mutation_p.S289F|RAI14_uc010ius.1_Missense_Mutation_p.S218F|RAI14_uc003jis.2_Missense_Mutation_p.S292F|RAI14_uc003jit.2_Missense_Mutation_p.S289F|RAI14_uc011cok.1_Missense_Mutation_p.S281F	p.S289F	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			12	1062	+	all_lung(31;0.000191)		289					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.866C>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183105	0.78677	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.41758	1.09;0.99;1.09;1.09;1.1;1.14;1.12	5.86	5.86	0.93980	.	.	.	.	.	T	0.57844	0.2081	L	0.32530	0.975	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	T	0.57728	-0.7761	9	0.87932	D	0	-3.3335	20.5632	0.99335	0.0:1.0:0.0:0.0	.	281;260;292;289	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	F	289;260;289;289;292;281;282	ENSP00000265109:S289F;ENSP00000422377:S260F;ENSP00000388725:S289F;ENSP00000422942:S289F;ENSP00000427123:S292F;ENSP00000423854:S281F;ENSP00000380591:S282F	ENSP00000265109:S289F	S	+	2	0	RAI14	34850458	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.966000	0.63715	2.937000	0.99478	0.650000	0.86243	TCT		0.363	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		7	197	0	0	0	0	7	197				
MAP1B	4131	broad.mit.edu	37	5	71494638	71494638	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:71494638C>T	ENST00000296755.7	+	5	5754	c.5456C>T	c.(5455-5457)tCt>tTt	p.S1819F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1819					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTTCCTCTTCTCCACCAATA	0.468																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5455-5457)TCT>TTT		microtubule-associated protein 1B							66.0	68.0	68.0					5																	71494638		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494638C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5456C>T	5.37:g.71494638C>T	ENSP00000296755:p.Ser1819Phe					MAP1B_uc010iyw.1_Missense_Mutation_p.S1836F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1693F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1693F	p.S1819F	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5697	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1819					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5456C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	4.060	0.008874	0.07912	.	.	ENSG00000131711	ENST00000296755	T	0.03635	3.86	5.12	4.1	0.47936	.	0.420102	0.20514	N	0.090837	T	0.02571	0.0078	N	0.14661	0.345	0.35124	D	0.767291	P;B	0.45902	0.868;0.232	B;B	0.40329	0.326;0.034	T	0.53373	-0.8448	10	0.62326	D	0.03	-0.1026	6.2166	0.20658	0.0:0.6795:0.0:0.3205	.	1693;1819	A2BDK6;P46821	.;MAP1B_HUMAN	F	1819	ENSP00000296755:S1819F	ENSP00000296755:S1819F	S	+	2	0	MAP1B	71530394	0.504000	0.26123	0.667000	0.29798	0.093000	0.18481	3.877000	0.56123	1.051000	0.40369	0.551000	0.68910	TCT		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		6	120	0	0	0	0	6	120				
COL4A3BP	10087	broad.mit.edu	37	5	74712757	74712757	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:74712757G>A	ENST00000405807.4	-	7	1202	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.H389Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.H261Y	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	261					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TCAATACAATGAGAAAGTGTT	0.353																																						uc011csu.1		NA																	0				skin(1)	1						c.(781-783)CAT>TAT		alpha 3 type IV collagen binding protein isoform							133.0	135.0	134.0					5																	74712757		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74712757G>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.781C>T	5.37:g.74712757G>A	ENSP00000383996:p.His261Tyr					COL4A3BP_uc003kds.2_Missense_Mutation_p.H261Y|COL4A3BP_uc003kdt.2_Missense_Mutation_p.H389Y|COL4A3BP_uc003kdu.2_Missense_Mutation_p.H261Y	p.H261Y	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	7	1203	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	261					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.781C>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206451	0.79127	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.38401	1.22;1.14;1.23	5.93	5.93	0.95920	.	0.042901	0.85682	D	0.000000	T	0.44138	0.1279	M	0.68952	2.095	0.80722	D	1	B;B;B	0.21147	0.001;0.052;0.004	B;B;B	0.24701	0.003;0.055;0.013	T	0.24297	-1.0164	10	0.44086	T	0.13	-8.9259	20.3368	0.98748	0.0:0.0:1.0:0.0	.	261;389;261	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	Y	261;389;261	ENSP00000383996:H261Y;ENSP00000369862:H389Y;ENSP00000261415:H261Y	ENSP00000261415:H261Y	H	-	1	0	COL4A3BP	74748513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CAT		0.353	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		6	272	0	0	0	0	6	272				
FNIP1	96459	broad.mit.edu	37	5	131007934	131007934	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:131007934C>T	ENST00000510461.1	-	14	2298	c.2203G>A	c.(2203-2205)Gat>Aat	p.D735N	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.D690N|FNIP1_ENST00000307968.7_Missense_Mutation_p.D707N	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	735					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACAATCTTATCTGGAGGTTTT	0.448																																						uc003kvs.1		NA																	0				pancreas(1)|skin(1)	2						c.(2203-2205)GAT>AAT		folliculin interacting protein 1 isoform 1							172.0	173.0	172.0					5																	131007934		2203	4300	6503	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131007934C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2203G>A	5.37:g.131007934C>T	ENSP00000421985:p.Asp735Asn					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D707N|FNIP1_uc010jdm.1_Missense_Mutation_p.D690N	p.D735N	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	2345	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	735					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.2203G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209556	0.79240	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.14766	2.48;2.48;2.48	5.76	5.76	0.90799	.	.	.	.	.	T	0.36717	0.0977	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.974	D;D;P	0.83275	0.996;0.983;0.736	T	0.00649	-1.1627	9	0.41790	T	0.15	-9.0291	19.9813	0.97326	0.0:1.0:0.0:0.0	.	735;707;735	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	N	707;690;487;735	ENSP00000309266:D707N;ENSP00000310453:D690N;ENSP00000421985:D735N	ENSP00000310453:D690N	D	-	1	0	FNIP1	131035833	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.934000	0.75880	2.726000	0.93360	0.655000	0.94253	GAT		0.448	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		10	429	0	0	0	0	10	429				
TGFBI	7045	broad.mit.edu	37	5	135391456	135391456	+	Missense_Mutation	SNP	C	C	A	rs554511298		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:135391456C>A	ENST00000442011.2	+	11	1659	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	TGFBI_ENST00000305126.8_Missense_Mutation_p.P500T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	500					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGCTGACCCCCCCAATGGG	0.587																																						uc003lbf.3		NA																	0				breast(3)|ovary(1)	4						c.(1498-1500)CCC>ACC		transforming growth factor, beta-induced, 68kDa							41.0	44.0	43.0					5																	135391456		1908	4122	6030	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135391456C>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1498C>A	5.37:g.135391456C>A	ENSP00000416330:p.Pro500Thr					TGFBI_uc003lbg.3_Missense_Mutation_p.P233T|TGFBI_uc003lbh.3_Missense_Mutation_p.P326T|TGFBI_uc011cyb.1_Missense_Mutation_p.P326T|TGFBI_uc010jed.2_Missense_Mutation_p.P233T	p.P500T	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		11	1659	+			500					D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1498C>A	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.118971|5.118971	0.94385|0.94385	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000514554|ENST00000442011;ENST00000398813;ENST00000305126	.|D;D	.|0.93906	.|-3.31;-3.31	5.87|5.87	5.87|5.87	0.94306|0.94306	.|FAS1 domain (5);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.97235|0.97235	0.9096|0.9096	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.97081|0.97081	0.9784|0.9784	6|10	.|0.87932	.|D	.|0	-44.3429|-44.3429	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|233;500	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	H|T	217|500;233;500	.|ENSP00000416330:P500T;ENSP00000306306:P500T	.|ENSP00000306306:P500T	P|P	+|+	2|1	0|0	TGFBI|TGFBI	135419355|135419355	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.900000|0.900000	0.52787|0.52787	5.835000|5.835000	0.69368|0.69368	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.587	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			29	51	1	0	5.46e-16	5.77e-16	29	51				
FAM13B	51306	broad.mit.edu	37	5	137354085	137354085	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:137354085G>A	ENST00000033079.3	-	4	727	c.276C>T	c.(274-276)ccC>ccT	p.P92P	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Silent_p.P92P	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	92	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TAATAGCTGAGGGAACATCTG	0.433																																						uc003lbz.2		NA																	0					0						c.(274-276)CCC>CCT		hypothetical protein LOC51306 isoform 1							150.0	137.0	141.0					5																	137354085		2203	4300	6503	SO:0001819	synonymous_variant	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137354085G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.276C>T	5.37:g.137354085G>A						FAM13B_uc003lcb.2_5'UTR|FAM13B_uc003lca.2_Silent_p.P92P	p.P92P	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			4	810	-			92			Rho-GAP.		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.276C>T	CCDS4195.1																																																																																				0.433	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			10	202	0	0	0	0	10	202				
CTNNA1	1495	broad.mit.edu	37	5	138118956	138118956	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:138118956G>A	ENST00000302763.7	+	3	286	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Missense_Mutation_p.E66K	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	66	Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCATCTGTTGAACAAGCAAC	0.433																																						uc003ldh.2		NA																	0				breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(196-198)GAA>AAA		catenin, alpha 1							89.0	87.0	88.0					5																	138118956		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138118956G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.196G>A	5.37:g.138118956G>A	ENSP00000304669:p.Glu66Lys					CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_5'UTR|CTNNA1_uc003ldi.2_Silent_p.L7L|CTNNA1_uc003ldj.2_Missense_Mutation_p.E66K	p.E66K	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	291	+			66			Involved in homodimerization.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.196G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771059	0.90108	.	.	ENSG00000044115	ENST00000517980;ENST00000522227;ENST00000524127;ENST00000523912;ENST00000520339;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000519113;ENST00000520158;ENST00000518825	T;T;T;T;T;T;T;T;T	0.46819	1.21;1.21;1.21;1.13;1.21;0.86;1.13;0.86;0.86	5.71	5.71	0.89125	.	0.044969	0.85682	D	0.000000	T	0.49779	0.1577	M	0.67700	2.07	0.80722	D	1	B;B	0.29936	0.262;0.008	B;B	0.29176	0.099;0.036	T	0.42766	-0.9432	10	0.25751	T	0.34	-10.461	19.4583	0.94904	0.0:0.0:1.0:0.0	.	66;66	G3XAM7;P35221	.;CTNA1_HUMAN	K	66	ENSP00000428439:E66K;ENSP00000429636:E66K;ENSP00000428049:E66K;ENSP00000430304:E66K;ENSP00000428202:E66K;ENSP00000304669:E66K;ENSP00000430078:E66K;ENSP00000429457:E66K;ENSP00000427821:E66K	ENSP00000304669:E66K	E	+	1	0	CTNNA1	138146855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.704000	0.92352	0.561000	0.74099	GAA		0.433	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		7	197	0	0	0	0	7	197				
PCDHA10	56139	broad.mit.edu	37	5	140237154	140237154	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:140237154G>T	ENST00000307360.5	+	1	1521	c.1521G>T	c.(1519-1521)gtG>gtT	p.V507V	PCDHA10_ENST00000506939.2_Silent_p.V507V|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	507	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTACGTGTCGGTGCACG	0.692																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1519-1521)GTG>GTT		protocadherin alpha 10 isoform 1 precursor							66.0	73.0	71.0					5																	140237154		2196	4273	6469	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237154G>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1521G>T	5.37:g.140237154G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.V507V|PCDHA10_uc011dad.1_Silent_p.V507V	p.V507V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1521	+			507			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1521G>T	CCDS54921.1																																																																																				0.692	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		9	237	1	0	7.48e-07	7.78e-07	9	237				
PCDHB16	57717	broad.mit.edu	37	5	140563086	140563086	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:140563086C>T	ENST00000361016.2	+	1	2107	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	318	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)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATGAAGTGCGCATCAAAGC	0.473																																						uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(952-954)CGC>TGC		protocadherin beta 16 precursor							89.0	97.0	94.0					5																	140563086		2203	4300	6503	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563086C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.952C>T	5.37:g.140563086C>T	ENSP00000354293:p.Arg318Cys					PCDHB16_uc010jfw.1_Intron	p.R318C	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2107	+			318			Extracellular (Potential).|Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.952C>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	1.549	-0.539836	0.04053	.	.	ENSG00000196963	ENST00000361016	T	0.01767	4.65	4.75	0.994	0.19832	Cadherin (5);Cadherin-like (1);	0.774326	0.10492	N	0.668283	T	0.02193	0.0068	L	0.50993	1.605	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44667	-0.9313	10	0.62326	D	0.03	.	4.4667	0.11692	0.1911:0.2115:0.502:0.0954	.	318	Q9NRJ7	PCDBG_HUMAN	C	318	ENSP00000354293:R318C	ENSP00000354293:R318C	R	+	1	0	PCDHB16	140543270	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.870000	0.00346	-0.393000	0.07739	-3.016000	0.00074	CGC		0.473	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		12	183	0	0	0	0	12	183				
ARAP3	64411	broad.mit.edu	37	5	141041787	141041787	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:141041787C>T	ENST00000239440.4	-	20	2901	c.2836G>A	c.(2836-2838)Gct>Act	p.A946T	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.A608T|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	946	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGGGCACGAGCGCCCCCTTTC	0.642																																						uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(2836-2838)GCT>ACT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							69.0	72.0	71.0					5																	141041787		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041787C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2836G>A	5.37:g.141041787C>T	ENSP00000239440:p.Ala946Thr					ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.A608T|ARAP3_uc003lln.2_Intron	p.A946T	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			20	2914	-			946			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2836G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013099	0.93346	.	.	ENSG00000120318	ENST00000239440;ENST00000513878	T;T	0.18810	2.19;2.19	5.27	5.27	0.74061	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.89917	0.995;1.0	P;D	0.91635	0.905;0.999	T	0.01541	-1.1329	10	0.02654	T	1	.	18.6905	0.91581	0.0:1.0:0.0:0.0	.	608;946	B4DIT1;Q8WWN8	.;ARAP3_HUMAN	T	946;608	ENSP00000239440:A946T;ENSP00000421468:A608T	ENSP00000239440:A946T	A	-	1	0	ARAP3	141021971	1.000000	0.71417	0.962000	0.40283	0.985000	0.73830	5.252000	0.65445	2.741000	0.93983	0.650000	0.86243	GCT		0.642	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	318	0	0	0	0	8	318				
ARAP3	64411	broad.mit.edu	37	5	141059994	141059994	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:141059994C>G	ENST00000239440.4	-	2	125	c.60G>C	c.(58-60)caG>caC	p.Q20H	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	20	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGTCTGCATACTGCTCCAGGT	0.677																																						uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(58-60)CAG>CAC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							39.0	38.0	38.0					5																	141059994		2203	4299	6502	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059994C>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.60G>C	5.37:g.141059994C>G	ENSP00000239440:p.Gln20His					ARAP3_uc003lln.2_5'UTR|ARAP3_uc003llo.1_Missense_Mutation_p.Q20H	p.Q20H	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			2	138	-			20			SAM.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.60G>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265073	0.59431	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;D	0.85773	-2.03;-2.03	4.39	3.47	0.39725	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.077463	0.47093	D	0.000241	D	0.82435	0.5036	L	0.37750	1.13	0.80722	D	1	P	0.44309	0.832	P	0.52267	0.694	T	0.82390	-0.0481	10	0.87932	D	0	.	6.0492	0.19777	0.0:0.7015:0.194:0.1045	.	20	Q8WWN8	ARAP3_HUMAN	H	20	ENSP00000239440:Q20H;ENSP00000421148:Q20H	ENSP00000239440:Q20H	Q	-	3	2	ARAP3	141040178	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	0.421000	0.21280	2.272000	0.75746	0.462000	0.41574	CAG		0.677	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		5	121	0	0	0	0	5	121				
HAVCR2	84868	broad.mit.edu	37	5	156522384	156522384	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:156522384G>A	ENST00000307851.4	-	5	1339	c.609C>T	c.(607-609)atC>atT	p.I203I	HAVCR2_ENST00000522593.1_Silent_p.I175I	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	203						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCGATGTAGATGCCTATTC	0.453																																						uc003lwk.1		NA																	0					0						c.(607-609)ATC>ATT		T cell immunoglobulin mucin 3 precursor							107.0	107.0	107.0					5																	156522384		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156522384G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.609C>T	5.37:g.156522384G>A							p.I203I	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	753	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	203			Helical; (Potential).		B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.609C>T	CCDS4333.1																																																																																				0.453	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			5	226	0	0	0	0	5	226				
TENM2	57451	broad.mit.edu	37	5	167622191	167622191	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:167622191C>G	ENST00000518659.1	+	15	2830	c.2791C>G	c.(2791-2793)Ctc>Gtc	p.L931V	TENM2_ENST00000403607.2_Missense_Mutation_p.L755V|TENM2_ENST00000545108.1_Missense_Mutation_p.L931V|TENM2_ENST00000520394.1_Missense_Mutation_p.L699V|TENM2_ENST00000519204.1_Missense_Mutation_p.L810V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	931					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTTGGTTTCTCTCATCCGAGG	0.507																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(2764-2766)CTC>GTC		odz, odd Oz/ten-m homolog 2							93.0	96.0	95.0					5																	167622191		1984	4175	6159	SO:0001583	missense	57451							g.chr5:167622191C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2791C>G	5.37:g.167622191C>G	ENSP00000429430:p.Leu931Val					ODZ2_uc003lzr.3_Missense_Mutation_p.L699V|ODZ2_uc003lzt.3_Missense_Mutation_p.L295V|ODZ2_uc010jje.2_Missense_Mutation_p.L193V	p.L922V	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	15	2764	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2764C>G		.	.	.	.	.	.	.	.	.	.	C	5.627	0.300411	0.10678	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;D;D	0.81908	-1.08;-1.07;-1.16;-1.55;-1.52	5.63	4.75	0.60458	Carboxypeptidase-like, regulatory domain (1);	0.121727	0.56097	N	0.000021	T	0.78097	0.4230	N	0.04148	-0.265	0.46823	D	0.99921	B;B;D	0.61697	0.15;0.093;0.99	B;B;D	0.72982	0.048;0.021;0.979	T	0.73792	-0.3871	10	0.02654	T	1	.	16.4444	0.83913	0.0:0.8687:0.1313:0.0	.	931;931;699	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	931;931;810;699;755	ENSP00000429430:L931V;ENSP00000438635:L931V;ENSP00000428964:L810V;ENSP00000427874:L699V;ENSP00000384905:L755V	ENSP00000384905:L755V	L	+	1	0	ODZ2	167554769	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.428000	0.44749	1.342000	0.45619	0.655000	0.94253	CTC		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	45	0	0	0	0	3	45				
RPP40	10799	broad.mit.edu	37	6	4996630	4996630	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:4996630G>A	ENST00000380051.2	-	6	628	c.584C>T	c.(583-585)tCa>tTa	p.S195L	RPP40_ENST00000464646.1_Missense_Mutation_p.S135L|RPP40_ENST00000319533.5_Missense_Mutation_p.S172L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	195					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GGAAAAATATGACATCATTGT	0.458																																						uc003mwl.2		NA																	0					0						c.(583-585)TCA>TTA		ribonuclease P 40kDa subunit							106.0	103.0	104.0					6																	4996630		2203	4300	6503	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:4996630G>A	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.584C>T	6.37:g.4996630G>A	ENSP00000369391:p.Ser195Leu					RPP40_uc003mwm.2_Missense_Mutation_p.S172L	p.S195L	NM_006638	NP_006629	O75818	RPP40_HUMAN			6	619	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	195					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.584C>T	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978642	0.74360	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.46819	0.86;0.86;0.86	5.23	4.34	0.51931	.	0.430421	0.25771	N	0.028411	T	0.53818	0.1820	M	0.82923	2.615	0.42547	D	0.993093	D;B	0.55800	0.973;0.437	P;P	0.56563	0.801;0.524	T	0.57888	-0.7733	10	0.33141	T	0.24	3.3022	14.0228	0.64568	0.0:0.0:0.8476:0.1524	.	172;195	O75818-2;O75818	.;RPP40_HUMAN	L	195;172;135	ENSP00000369391:S195L;ENSP00000317998:S172L;ENSP00000419431:S135L	ENSP00000317998:S172L	S	-	2	0	RPP40	4941629	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	5.218000	0.65257	1.152000	0.42452	0.650000	0.86243	TCA		0.458	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		5	130	0	0	0	0	5	130				
DSP	1832	broad.mit.edu	37	6	7569567	7569567	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:7569567C>G	ENST00000379802.3	+	12	1909	c.1568C>G	c.(1567-1569)tCt>tGt	p.S523C	DSP_ENST00000418664.2_Missense_Mutation_p.S523C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	523	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGACCTCTCTTGCAAGTAA	0.572																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(1567-1569)TCT>TGT		desmoplakin isoform I							116.0	102.0	107.0					6																	7569567		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569567C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1568C>G	6.37:g.7569567C>G	ENSP00000369129:p.Ser523Cys					DSP_uc003mxq.1_Missense_Mutation_p.S523C	p.S523C	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	12	1847	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	523			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1568C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647467	0.87958	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.77098	-0.31;-1.07	5.53	5.53	0.82687	.	0.109105	0.41500	D	0.000866	T	0.66257	0.2771	N	0.14661	0.345	0.52501	D	0.999955	D;D	0.56287	0.975;0.957	P;P	0.49451	0.611;0.539	T	0.74441	-0.3664	10	0.87932	D	0	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	570;523	Q4LE79;P15924	.;DESP_HUMAN	C	523;523;328	ENSP00000369129:S523C;ENSP00000396591:S523C	ENSP00000369129:S523C	S	+	2	0	DSP	7514566	1.000000	0.71417	0.692000	0.30179	0.819000	0.46315	7.625000	0.83145	2.596000	0.87737	0.655000	0.94253	TCT		0.572	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		6	173	0	0	0	0	6	173				
DSP	1832	broad.mit.edu	37	6	7572178	7572178	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:7572178G>A	ENST00000379802.3	+	15	2348	c.2007G>A	c.(2005-2007)ctG>ctA	p.L669L	DSP_ENST00000418664.2_Silent_p.L669L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	669	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATGGATGCTGATGGAGCTGC	0.458																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2005-2007)CTG>CTA		desmoplakin isoform I							98.0	91.0	93.0					6																	7572178		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7572178G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2007G>A	6.37:g.7572178G>A						DSP_uc003mxq.1_Silent_p.L669L	p.L669L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	15	2286	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	669			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.2007G>A	CCDS4501.1																																																																																				0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		6	118	0	0	0	0	6	118				
PAK1IP1	55003	broad.mit.edu	37	6	10695300	10695300	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:10695300G>C	ENST00000379568.3	+	1	373	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000460742.2_5'Flank|C6orf52_ENST00000379586.1_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	28					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E28*(1)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				CGGCGACCACGAGGTGAGATA	0.622																																						uc003mzg.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(82-84)GAG>CAG		PAK1 interacting protein 1							56.0	52.0	53.0					6																	10695300		2203	4300	6503	SO:0001583	missense	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10695300G>C	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.82G>C	6.37:g.10695300G>C	ENSP00000368887:p.Glu28Gln					C6orf52_uc011dij.1_5'Flank|C6orf52_uc011dik.1_5'Flank|C6orf52_uc003mzf.3_5'Flank|C6orf52_uc011dil.1_5'Flank	p.E28Q	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN			1	113	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	28					Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	c.82G>C	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929525	0.34096	.	.	ENSG00000111845	ENST00000379568	T	0.51071	0.72	5.09	2.29	0.28610	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.369428	0.33553	N	0.004799	T	0.13543	0.0328	L	0.28740	0.885	0.36270	D	0.855098	B	0.17852	0.024	B	0.14578	0.011	T	0.07158	-1.0787	10	0.20519	T	0.43	-9.8196	6.8927	0.24238	0.0919:0.3426:0.5655:0.0	.	28	Q9NWT1	PK1IP_HUMAN	Q	28	ENSP00000368887:E28Q	ENSP00000368887:E28Q	E	+	1	0	PAK1IP1	10803286	0.771000	0.28555	0.693000	0.30195	0.447000	0.32167	0.790000	0.26900	0.294000	0.22547	0.650000	0.86243	GAG		0.622	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		46	110	0	0	0	0	46	110				
SYCP2L	221711	broad.mit.edu	37	6	10911091	10911091	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:10911091G>A	ENST00000283141.6	+	12	1203	c.907G>A	c.(907-909)Gat>Aat	p.D303N	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.D144N	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	303						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGCTTTTGCTGATGAGCATGA	0.408																																						uc003mzo.2		NA																	0				ovary(1)|skin(1)	2						c.(907-909)GAT>AAT		synaptonemal complex protein 2-like							278.0	253.0	261.0					6																	10911091		1931	4140	6071	SO:0001583	missense	221711					nucleus		g.chr6:10911091G>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.907G>A	6.37:g.10911091G>A	ENSP00000283141:p.Asp303Asn					SYCP2L_uc011din.1_Missense_Mutation_p.D144N|SYCP2L_uc010jow.2_Intron	p.D303N	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		12	1203	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	303					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.907G>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795236	0.90453	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.52983	0.64;1.79	5.66	5.66	0.87406	.	0.115639	0.53938	D	0.000051	T	0.59404	0.2191	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.63283	0.747;0.913	T	0.55673	-0.8104	10	0.40728	T	0.16	-16.7878	19.3476	0.94372	0.0:0.0:1.0:0.0	.	144;303	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	N	144;303	ENSP00000440676:D144N;ENSP00000283141:D303N	ENSP00000283141:D303N	D	+	1	0	SYCP2L	11019077	1.000000	0.71417	0.982000	0.44146	0.720000	0.41350	6.752000	0.74898	2.669000	0.90835	0.591000	0.81541	GAT		0.408	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		126	225	0	0	0	0	126	225				
HIST1H2BD	3017	broad.mit.edu	37	6	26158465	26158465	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:26158465A>T	ENST00000289316.2	+	1	92	c.68A>T	c.(67-69)cAg>cTg	p.Q23L	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.Q23L	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	23					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACTAAGGCTCAGAAGAAGGAC	0.532																																						uc003ngr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(67-69)CAG>CTG		histone cluster 1, H2bd							135.0	131.0	133.0					6																	26158465		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158465A>T	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.68A>T	6.37:g.26158465A>T	ENSP00000289316:p.Gln23Leu					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.Q23L	p.Q23L	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	117	+			23						Missense_Mutation	SNP	ENST00000289316.2	37	c.68A>T	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.202421	0.38905	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.23754	1.89;1.89	4.59	4.59	0.56863	Histone-fold (2);	0.000000	0.39687	N	0.001287	T	0.19127	0.0459	M	0.84219	2.685	0.35090	D	0.764265	B	0.22800	0.075	B	0.20184	0.028	T	0.17868	-1.0355	10	0.72032	D	0.01	.	10.1234	0.42634	0.9163:0.0:0.0837:0.0	.	23	P58876	H2B1D_HUMAN	L	23	ENSP00000367008:Q23L;ENSP00000289316:Q23L	ENSP00000289316:Q23L	Q	+	2	0	HIST1H2BD	26266444	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	3.493000	0.53266	2.031000	0.59945	0.529000	0.55759	CAG		0.532	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		11	303	0	0	0	0	11	303				
HIST1H2BH	8345	broad.mit.edu	37	6	26251947	26251947	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:26251947G>C	ENST00000356350.2	+	1	69	c.69G>C	c.(67-69)caG>caC	p.Q23H	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	23					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q23H(1)|p.Q23Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CCAAGGCGCAGAAGAAGGATG	0.552																																						uc003nhh.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		NS(1)|breast(1)	ovary(3)	3						c.(67-69)CAG>CAC		histone cluster 1, H2bh							125.0	113.0	117.0					6																	26251947		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26251947G>C	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.69G>C	6.37:g.26251947G>C	ENSP00000348706:p.Gln23His					HIST1H3F_uc003nhg.1_5'Flank	p.Q23H	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	69	+			23					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.69G>C	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	9.476	1.096980	0.20552	.	.	ENSG00000197459	ENST00000356350	T	0.23950	1.88	4.68	1.76	0.24704	Histone-fold (2);	.	.	.	.	T	0.14874	0.0359	M	0.82517	2.595	0.23611	N	0.997291	B	0.21309	0.054	B	0.09377	0.004	T	0.29971	-0.9994	9	0.72032	D	0.01	.	9.2096	0.37311	0.2573:0.0:0.7427:0.0	.	23	Q93079	H2B1H_HUMAN	H	23	ENSP00000348706:Q23H	ENSP00000348706:Q23H	Q	+	3	2	HIST1H2BH	26359926	1.000000	0.71417	0.974000	0.42286	0.004000	0.04260	2.852000	0.48310	0.220000	0.20860	-0.466000	0.05196	CAG		0.552	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		13	233	0	0	0	0	13	233				
SLC26A8	116369	broad.mit.edu	37	6	35927554	35927554	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:35927554G>C	ENST00000490799.1	-	15	2021	c.1668C>G	c.(1666-1668)ttC>ttG	p.F556L	SLC26A8_ENST00000355574.2_Missense_Mutation_p.F556L|SLC26A8_ENST00000394602.2_Missense_Mutation_p.F451L	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGCAGCACTGGAAGATTTTCA	0.393																																						uc003olm.2		NA																	0				ovary(2)	2						c.(1666-1668)TTC>TTG		solute carrier family 26, member 8 isoform a							109.0	108.0	108.0					6																	35927554		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35927554G>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1668C>G	6.37:g.35927554G>C	ENSP00000417638:p.Phe556Leu					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.F138L|SLC26A8_uc003oln.2_Missense_Mutation_p.F556L|SLC26A8_uc003oll.2_Missense_Mutation_p.F451L	p.F556L	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			15	1779	-			556			STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.1668C>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824484	0.50739	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.86627	-2.15;-2.15;-2.15	5.82	2.07	0.26955	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.354783	0.27673	N	0.018323	T	0.71567	0.3355	L	0.57536	1.79	0.31165	N	0.703903	B;B;B	0.31769	0.235;0.011;0.339	B;B;B	0.34779	0.096;0.018;0.189	T	0.62732	-0.6792	10	0.48119	T	0.1	.	4.4893	0.11806	0.2598:0.1641:0.576:0.0	.	556;451;138	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	L	556;451;556	ENSP00000417638:F556L;ENSP00000378100:F451L;ENSP00000347778:F556L	ENSP00000347778:F556L	F	-	3	2	SLC26A8	36035532	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.099000	0.31013	0.382000	0.24878	0.650000	0.86243	TTC		0.393	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			4	164	0	0	0	0	4	164				
ZFAND3	60685	broad.mit.edu	37	6	37897761	37897761	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:37897761C>G	ENST00000287218.4	+	2	545	c.98C>G	c.(97-99)tCc>tGc	p.S33C	ZFAND3_ENST00000373391.2_Missense_Mutation_p.S33C	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	33							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AATCTCTGTTCCAAATGCTTT	0.303																																						uc003onx.2		NA																	0				ovary(1)	1						c.(97-99)TCC>TGC		zinc finger, AN1-type domain 3							107.0	111.0	109.0					6																	37897761		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:37897761C>G	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.98C>G	6.37:g.37897761C>G	ENSP00000287218:p.Ser33Cys						p.S33C	NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN			2	513	+			33			A20-type.		Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.98C>G	CCDS4836.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801142|3.801142	0.70567|0.70567	.|.	.|.	ENSG00000156639|ENSG00000156639	ENST00000373389|ENST00000287218;ENST00000373391;ENST00000474522	.|T;T;T	.|0.61980	.|0.06;0.06;0.06	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Zinc finger, A20-type (2);	.|0.097969	.|0.64402	.|D	.|0.000001	T|T	0.81307|0.81307	0.4795|0.4795	M|M	0.91406|0.91406	3.205|3.205	0.58432|0.58432	D|D	0.999995|0.999995	.|D	.|0.76494	.|0.999	.|D	.|0.69479	.|0.964	D|D	0.84758|0.84758	0.0760|0.0760	5|10	.|0.87932	.|D	.|0	-0.7077|-0.7077	18.1558|18.1558	0.89690|0.89690	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|33	.|Q9H8U3	.|ZFAN3_HUMAN	L|C	9|33	.|ENSP00000287218:S33C;ENSP00000362489:S33C;ENSP00000420240:S33C	.|ENSP00000287218:S33C	F|S	+|+	3|2	2|0	ZFAND3|ZFAND3	38005739|38005739	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.645000|4.645000	0.61404|0.61404	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	TTC|TCC		0.303	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		6	237	0	0	0	0	6	237				
DNAH8	1769	broad.mit.edu	37	6	38950169	38950169	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:38950169C>T	ENST00000359357.3	+	84	12485	c.12231C>T	c.(12229-12231)ttC>ttT	p.F4077F	DNAH8_ENST00000441566.1_Silent_p.F4041F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4077	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTACGAATTCAATTCTGCTG	0.353																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12229-12231)TTC>TTT		dynein, axonemal, heavy polypeptide 8							185.0	181.0	182.0					6																	38950169		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38950169C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12231C>T	6.37:g.38950169C>T						DNAH8_uc003oog.1_Silent_p.F526F	p.F4077F	NM_001371	NP_001362					84	12831	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12231C>T																																																																																					0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	277	0	0	0	0	10	277				
PPP2R5D	5528	broad.mit.edu	37	6	42978724	42978724	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:42978724G>A	ENST00000485511.1	+	15	1839	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E522K|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E546K|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E448K	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	554					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTGGAGACTGAGGCTGTTCA	0.557																																					Melanoma(63;587 1613 29742 31770)	uc003oth.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1660-1662)GAG>AAG		delta isoform of regulatory subunit B56, protein							82.0	83.0	83.0					6																	42978724		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42978724G>A	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1660G>A	6.37:g.42978724G>A	ENSP00000417963:p.Glu554Lys					MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.E522K|PPP2R5D_uc010jyd.2_Missense_Mutation_p.E448K|PPP2R5D_uc011dva.1_Missense_Mutation_p.E403K|PPP2R5D_uc003oti.2_Missense_Mutation_p.E403K|PPP2R5D_uc003otj.2_Missense_Mutation_p.E385K	p.E554K	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		15	1746	+			554			Nuclear localization signal (Potential).		A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.1660G>A	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574791	0.65878	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	T;T;T;T	0.45668	0.9;0.89;0.89;0.9	5.37	5.37	0.77165	.	0.054996	0.64402	D	0.000001	T	0.27832	0.0685	L	0.52266	1.64	0.48288	D	0.999623	B;B;B;B	0.11235	0.001;0.004;0.002;0.004	B;B;B;B	0.15052	0.007;0.012;0.003;0.012	T	0.06807	-1.0806	10	0.48119	T	0.1	-18.4129	16.9003	0.86112	0.0:0.0:1.0:0.0	.	448;536;554;522	Q14738-3;F5GYS1;Q14738;Q14738-2	.;.;2A5D_HUMAN;.	K	554;522;546;536;448	ENSP00000417963:E554K;ENSP00000377669:E522K;ENSP00000420550:E546K;ENSP00000420674:E448K	ENSP00000377669:E522K	E	+	1	0	PPP2R5D	43086702	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.571000	0.82399	2.524000	0.85096	0.655000	0.94253	GAG		0.557	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		8	193	0	0	0	0	8	193				
TTBK1	84630	broad.mit.edu	37	6	43222389	43222389	+	Splice_Site	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:43222389C>T	ENST00000259750.4	+	6	659	c.576C>T	c.(574-576)ccC>ccT	p.P192P	TTBK1_ENST00000304139.5_Splice_Site_p.P141P	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ATGTGCGGCCCGTGAGTACCG	0.627																																						uc003ouq.1		NA																	0				lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(574-576)CCC>CCT		tau tubulin kinase 1							42.0	43.0	43.0					6																	43222389		2203	4300	6503	SO:0001630	splice_region_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43222389C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.576+1C>T	6.37:g.43222389C>T							p.P192P	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		6	855	+			192			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.576C>T	CCDS34455.1																																																																																				0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		Silent	6	111	0	0	0	0	6	111				
TCTE1	202500	broad.mit.edu	37	6	44254175	44254175	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:44254175C>G	ENST00000371505.4	-	3	494	c.372G>C	c.(370-372)ctG>ctC	p.L124L	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	124										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACTGTCTATCAGGTTGGCGG	0.592																																						uc003oxi.2		NA																	0				ovary(2)|skin(2)	4						c.(370-372)CTG>CTC		t-complex-associated testis expressed 1							113.0	111.0	111.0					6																	44254175		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44254175C>G	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.372G>C	6.37:g.44254175C>G						SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.L124L	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	528	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		124					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.372G>C	CCDS4910.1																																																																																				0.592	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		10	311	0	0	0	0	10	311				
CDC5L	988	broad.mit.edu	37	6	44371637	44371637	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:44371637A>T	ENST00000371477.3	+	6	930	c.631A>T	c.(631-633)Aat>Tat	p.N211Y		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	211	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTTGATTATAATGCCGAAAT	0.393																																						uc003oxl.2		NA																	0				lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(631-633)AAT>TAT		CDC5-like							62.0	68.0	66.0					6																	44371637		2203	4299	6502	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371637A>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.631A>T	6.37:g.44371637A>T	ENSP00000360532:p.Asn211Tyr						p.N211Y	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	890	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		211			Potential.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.631A>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702240	0.88924	.	.	ENSG00000096401	ENST00000371477	T	0.56103	0.48	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	H	0.95437	3.67	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.84926	0.0857	10	0.87932	D	0	-29.304	16.5885	0.84745	1.0:0.0:0.0:0.0	.	211	Q99459	CDC5L_HUMAN	Y	211	ENSP00000360532:N211Y	ENSP00000360532:N211Y	N	+	1	0	CDC5L	44479615	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.093000	0.94163	2.317000	0.78254	0.460000	0.39030	AAT		0.393	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			64	64	0	0	0	0	64	64				
PLA2G7	7941	broad.mit.edu	37	6	46673033	46673033	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:46673033G>A	ENST00000274793.7	-	11	1242	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	PLA2G7_ENST00000537365.1_Missense_Mutation_p.S349L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	349					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTGGTGGACTGAACCCCTAAA	0.333																																						uc010jzf.2		NA																	0					0						c.(1045-1047)TCA>TTA		phospholipase A2, group VII							82.0	78.0	80.0					6																	46673033		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46673033G>A	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1046C>T	6.37:g.46673033G>A	ENSP00000274793:p.Ser349Leu					PLA2G7_uc010jzg.1_Nonsense_Mutation_p.Q286*	p.S349L	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		11	1315	-			349					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.1046C>T	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500008	0.64298	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.58060	0.36;0.36	5.87	5.01	0.66863	.	0.206573	0.42821	N	0.000652	T	0.40743	0.1129	M	0.80183	2.485	0.80722	D	1	B	0.30851	0.297	B	0.20184	0.028	T	0.50980	-0.8763	10	0.56958	D	0.05	.	14.4816	0.67587	0.0708:0.0:0.9292:0.0	.	349	Q13093	PAFA_HUMAN	L	349	ENSP00000274793:S349L;ENSP00000445666:S349L	ENSP00000274793:S349L	S	-	2	0	PLA2G7	46780992	0.996000	0.38824	0.989000	0.46669	0.976000	0.68499	7.472000	0.80996	1.495000	0.48549	0.591000	0.81541	TCA		0.333	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			4	70	0	0	0	0	4	70				
DST	667	broad.mit.edu	37	6	56357812	56357812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:56357812G>A	ENST00000361203.3	-	79	19517	c.19510C>T	c.(19510-19512)Cag>Tag	p.Q6504*	DST_ENST00000370788.2_Nonsense_Mutation_p.Q4418*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q6289*|DST_ENST00000340834.4_5'Flank|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4201*|DST_ENST00000370754.5_Nonsense_Mutation_p.Q6793*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q4527*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q6615*			Q03001	DYST_HUMAN	dystonin	6504					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTCAGCCTGAGTAAGCCAG	0.428																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(14113-14115)CAG>TAG		dystonin isoform 2							108.0	105.0	106.0					6																	56357812		1903	4141	6044	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56357812G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19510C>T	6.37:g.56357812G>A	ENSP00000354508:p.Gln6504*					DST_uc003pcz.3_Nonsense_Mutation_p.Q4527*|DST_uc011dxj.1_Nonsense_Mutation_p.Q4556*|DST_uc011dxk.1_Nonsense_Mutation_p.Q4567*|DST_uc003pcy.3_Nonsense_Mutation_p.Q4201*|DST_uc003pda.3_5'Flank	p.Q4705*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		78	14141	-	Lung NSC(77;0.103)		6613			Spectrin 17.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.14113C>T		.	.	.	.	.	.	.	.	.	.	G	58	30.968642	0.99978	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.43	5.43	0.79202	.	0.000000	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	19.6103	0.95602	0.0:0.0:1.0:0.0	.	.	.	.	X	4201;6793;6615;4527;6289;4418;6504	.	ENSP00000244364:Q4201X	Q	-	1	0	DST	56465771	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.809000	0.86057	2.718000	0.92993	0.585000	0.79938	CAG		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	37	0	0	0	0	5	37				
DST	667	broad.mit.edu	37	6	56513371	56513371	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:56513371C>G	ENST00000361203.3	-	9	925	c.918G>C	c.(916-918)ctG>ctC	p.L306L	DST_ENST00000370788.2_Silent_p.L306L|DST_ENST00000312431.6_Silent_p.L306L|DST_ENST00000370754.5_Silent_p.L484L|DST_ENST00000421834.2_Silent_p.L306L|DST_ENST00000370769.4_Silent_p.L306L			Q03001	DYST_HUMAN	dystonin	306					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACTAACCTTCAGTTCTACAG	0.333																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(1450-1452)CTG>CTC		dystonin isoform 2							78.0	71.0	74.0					6																	56513371		1869	4090	5959	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56513371C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.918G>C	6.37:g.56513371C>G						DST_uc003pcz.3_Silent_p.L306L|DST_uc011dxj.1_Silent_p.L335L|DST_uc011dxk.1_Silent_p.L346L|DST_uc011dxl.1_Silent_p.L335L|DST_uc003pde.2_Silent_p.L422L	p.L484L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		12	1480	-	Lung NSC(77;0.103)		306					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.1452G>C																																																																																					0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		3	20	0	0	0	0	3	20				
KHDC1	80759	broad.mit.edu	37	6	73952217	73952217	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:73952217G>A	ENST00000370384.3	-	3	743	c.243C>T	c.(241-243)ctC>ctT	p.L81L	RP11-257K9.8_ENST00000423730.3_Silent_p.L8L|KHDC1_ENST00000257765.5_Silent_p.L8L	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	81						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						GCTTCTTGCTGAGAGCACTCG	0.527																																						uc003pgo.2		NA																	0				skin(1)	1						c.(241-243)CTC>CTT		KH homology domain containing 1							115.0	113.0	114.0					6																	73952217		2020	4168	6188	SO:0001819	synonymous_variant	80759					integral to membrane	RNA binding	g.chr6:73952217G>A		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.243C>T	6.37:g.73952217G>A						KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Silent_p.L8L	p.L81L	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN			3	744	-			81					Q5JSQ7|Q8WTV2|Q96NQ5	Silent	SNP	ENST00000370384.3	37	c.243C>T	CCDS59027.1																																																																																				0.527	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		11	229	0	0	0	0	11	229				
PHIP	55023	broad.mit.edu	37	6	79787178	79787178	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:79787178G>A	ENST00000275034.4	-	4	343	c.176C>T	c.(175-177)aCc>aTc	p.T59I		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	59					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTCTGGTAggtcctgggatg	0.577																																						uc003pir.2		NA																	0				large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(175-177)ACC>ATC		pleckstrin homology domain interacting protein							56.0	68.0	64.0					6																	79787178		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79787178G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.176C>T	6.37:g.79787178G>A	ENSP00000275034:p.Thr59Ile					PHIP_uc011dyp.1_Missense_Mutation_p.T59I	p.T59I	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	4	402	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	59					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.176C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983438	0.35036	.	.	ENSG00000146247	ENST00000275034	T	0.17528	2.27	3.31	2.42	0.29668	.	0.507021	0.17049	U	0.189009	T	0.06554	0.0168	M	0.64170	1.965	0.42281	D	0.992095	B;B	0.30406	0.278;0.278	B;B	0.28385	0.089;0.089	T	0.12451	-1.0547	9	.	.	.	0.001	6.0698	0.19883	0.1185:0.1933:0.6882:0.0	.	59;59	A7J992;Q8WWQ0	.;PHIP_HUMAN	I	59	ENSP00000275034:T59I	.	T	-	2	0	PHIP	79843897	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.005000	0.49521	0.348000	0.23949	0.449000	0.29647	ACC		0.577	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			8	171	0	0	0	0	8	171				
SIM1	6492	broad.mit.edu	37	6	100901696	100901696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:100901696G>C	ENST00000369208.3	-	3	982	c.200C>G	c.(199-201)tCa>tGa	p.S67*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.S67*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	67					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTCCGACTTGAGTGGCCCCA	0.617																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(199-201)TCA>TGA		single-minded homolog 1							68.0	60.0	63.0					6																	100901696		2203	4300	6503	SO:0001587	stop_gained	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100901696G>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.200C>G	6.37:g.100901696G>C	ENSP00000358210:p.Ser67*					SIM1_uc010kcu.2_Nonsense_Mutation_p.S67*	p.S67*	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	2	407	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	67					Q5TDP7	Nonsense_Mutation	SNP	ENST00000369208.3	37	c.200C>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	44	11.034544	0.99506	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	5.56	5.56	0.83823	.	0.371449	0.31358	N	0.007792	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.5251	0.95201	0.0:0.0:1.0:0.0	.	.	.	.	X	67	.	ENSP00000262901:S67X	S	-	2	0	SIM1	101008417	0.977000	0.34250	0.999000	0.59377	0.869000	0.49853	3.332000	0.52083	2.616000	0.88540	0.563000	0.77884	TCA		0.617	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		52	106	0	0	0	0	52	106				
SOBP	55084	broad.mit.edu	37	6	107956425	107956425	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:107956425G>A	ENST00000317357.5	+	6	3036	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCTGATGGGCGAGGAGGCCCT	0.632																																						uc003prx.2		NA																	0				ovary(1)	1						c.(2377-2379)GAG>AAG		sine oculis binding protein homolog							46.0	57.0	53.0					6																	107956425		2027	4186	6213	SO:0001583	missense	55084						metal ion binding	g.chr6:107956425G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2377G>A	6.37:g.107956425G>A	ENSP00000318900:p.Glu793Lys						p.E793K	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2881	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	793						Missense_Mutation	SNP	ENST00000317357.5	37	c.2377G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414032	0.83449	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.25414	1.8	4.7	4.7	0.59300	.	1.172930	0.06615	U	0.756438	T	0.29817	0.0745	L	0.29908	0.895	0.39576	D	0.969351	D	0.67145	0.996	D	0.64410	0.925	T	0.12041	-1.0563	10	0.33141	T	0.24	-8.2401	17.6084	0.88045	0.0:0.0:1.0:0.0	.	793	A7XYQ1	SOBP_HUMAN	K	793;188	ENSP00000318900:E793K	ENSP00000230065:E188K	E	+	1	0	SOBP	108063118	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.835000	0.69368	2.130000	0.65690	0.462000	0.41574	GAG		0.632	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		7	162	0	0	0	0	7	162				
PTPRK	5796	broad.mit.edu	37	6	128291404	128291404	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:128291404C>T	ENST00000368215.3	-	30	4287	c.4288G>A	c.(4288-4290)Gat>Aat	p.D1430N	PTPRK_ENST00000532331.1_Missense_Mutation_p.D1453N|PTPRK_ENST00000368226.4_Missense_Mutation_p.D1431N|PTPRK_ENST00000368227.3_Missense_Mutation_p.D1448N|PTPRK_ENST00000368207.3_Missense_Mutation_p.D1463N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D1437N|PTPRK_ENST00000368210.3_Missense_Mutation_p.D1449N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1430	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAGCTACATCATAGCAGAAA	0.383																																						uc003qbk.2		NA																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(4288-4290)GAT>AAT		protein tyrosine phosphatase, receptor type, K							114.0	99.0	104.0					6																	128291404		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128291404C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4288G>A	6.37:g.128291404C>T	ENSP00000357198:p.Asp1430Asn					PTPRK_uc003qbj.2_Missense_Mutation_p.D1431N|PTPRK_uc010kfc.2_Missense_Mutation_p.D1437N|PTPRK_uc011ebu.1_Missense_Mutation_p.D1453N	p.D1430N	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	30	4655	-			1430			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.4288G>A		.	.	.	.	.	.	.	.	.	.	C	24.4	4.529557	0.85706	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.17	5.17	0.71159	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.992;0.99	D;D;P;P	0.75484	0.986;0.948;0.908;0.852	D	0.89829	0.3994	10	0.72032	D	0.01	.	18.9908	0.92791	0.0:1.0:0.0:0.0	.	1453;1437;1430;1431	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	N	1431;1448;1453;1437;1449;1430;1463	ENSP00000357209:D1431N;ENSP00000357210:D1448N;ENSP00000432973:D1453N;ENSP00000357196:D1437N;ENSP00000357193:D1449N;ENSP00000357198:D1430N;ENSP00000357190:D1463N	ENSP00000357190:D1463N	D	-	1	0	PTPRK	128333097	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.772000	0.85439	2.546000	0.85860	0.655000	0.94253	GAT		0.383	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			5	106	0	0	0	0	5	106				
TIAM2	26230	broad.mit.edu	37	6	155450635	155450635	+	Missense_Mutation	SNP	C	C	T	rs141887143		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:155450635C>T	ENST00000461783.3	+	6	1551	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TIAM2_ENST00000529824.2_Missense_Mutation_p.T93M|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.T93M|TIAM2_ENST00000360366.4_Missense_Mutation_p.T93M|TIAM2_ENST00000318981.5_Missense_Mutation_p.T93M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	93					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCCTACTCCACGCACAGGACA	0.552																																						uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(277-279)ACG>ATG		T-cell lymphoma invasion and metastasis 2		C	MET/THR	0,4406		0,0,2203	71.0	64.0	66.0		278	2.9	1.0	6	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM2	NM_012454.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	93/1702	155450635	1,13005	2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450635C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.278C>T	6.37:g.155450635C>T	ENSP00000437188:p.Thr93Met					TIAM2_uc003qqe.2_Missense_Mutation_p.T93M	p.T93M	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1551	+		Ovarian(120;0.196)	93					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.278C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	8.072	0.770513	0.15983	0.0	1.16E-4	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04970	3.64;3.52;3.58;3.64;3.63;3.58	5.33	2.88	0.33553	.	0.283290	0.38058	N	0.001828	T	0.01029	0.0034	N	0.08118	0	0.80722	D	1	B	0.30439	0.279	B	0.12156	0.007	T	0.54430	-0.8295	10	0.51188	T	0.08	.	7.1184	0.25429	0.7681:0.1545:0.0775:0.0	.	93	Q8IVF5	TIAM2_HUMAN	M	93;339;93;93;93;93;93;93	ENSP00000437188:T93M;ENSP00000434901:T93M;ENSP00000407746:T93M;ENSP00000327315:T93M;ENSP00000353528:T93M;ENSP00000433348:T93M	ENSP00000327315:T93M	T	+	2	0	TIAM2	155492327	1.000000	0.71417	0.990000	0.47175	0.125000	0.20455	1.498000	0.35660	0.312000	0.23038	-0.397000	0.06425	ACG		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	76	0	0	0	0	5	76				
PNLDC1	154197	broad.mit.edu	37	6	160222178	160222178	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:160222178G>C	ENST00000610273.1	+	3	306	c.135G>C	c.(133-135)aaG>aaC	p.K45N	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.K56N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	45						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGTATCTAAAGACCCGTCAGA	0.433																																						uc003qsx.1		NA																	0					0						c.(133-135)AAG>AAC		poly(A)-specific ribonuclease (PARN)-like domain							234.0	218.0	224.0					6																	160222178		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160222178G>C	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.135G>C	6.37:g.160222178G>C	ENSP00000476448:p.Lys45Asn					PNLDC1_uc003qsy.1_Missense_Mutation_p.K56N	p.K45N	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	3	306	+		Breast(66;0.00519)|Ovarian(120;0.123)	45			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.135G>C	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450557	0.63290	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.23950	1.88;1.88	5.3	5.3	0.74995	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000006	T	0.36936	0.0985	M	0.69358	2.11	0.36411	D	0.863727	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	T	0.18085	-1.0348	10	0.41790	T	0.15	.	11.6481	0.51273	0.0813:0.0:0.9187:0.0	.	56;45	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	N	45;56	ENSP00000275275:K45N;ENSP00000376007:K56N	ENSP00000275275:K45N	K	+	3	2	PNLDC1	160142168	1.000000	0.71417	0.973000	0.42090	0.661000	0.39034	2.912000	0.48782	2.495000	0.84180	0.650000	0.86243	AAG		0.433	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		16	440	0	0	0	0	16	440				
IQCE	23288	broad.mit.edu	37	7	2623917	2623917	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:2623917G>A	ENST00000402050.2	+	11	1006	c.822G>A	c.(820-822)aaG>aaA	p.K274K	IQCE_ENST00000404984.1_Silent_p.K223K|IQCE_ENST00000497572.1_3'UTR|IQCE_ENST00000438376.2_Silent_p.K258K|IQCE_ENST00000325979.7_Silent_p.K209K	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	274						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCACCGGAAAGAAGTATGATG	0.483																																						uc003smo.3		NA																	0					0						c.(820-822)AAG>AAA		IQ motif containing E isoform 1							216.0	224.0	221.0					7																	2623917		2078	4204	6282	SO:0001819	synonymous_variant	23288							g.chr7:2623917G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.822G>A	7.37:g.2623917G>A						IQCE_uc010ksm.1_Silent_p.K274K|IQCE_uc003sml.1_Silent_p.K274K|IQCE_uc011jvy.1_Silent_p.K258K|IQCE_uc011jvz.1_Silent_p.K209K|IQCE_uc003smk.3_Silent_p.K258K|IQCE_uc003smn.3_Silent_p.K209K	p.K274K	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	11	1006	+		Ovarian(82;0.0112)	274					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.822G>A	CCDS43542.1																																																																																				0.483	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		10	293	0	0	0	0	10	293				
TMEM196	256130	broad.mit.edu	37	7	19765224	19765224	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:19765224G>T	ENST00000405764.3	-	3	1068	c.372C>A	c.(370-372)ctC>ctA	p.L124L	TMEM196_ENST00000493519.1_Silent_p.L56L|TMEM196_ENST00000433641.1_Silent_p.L56L|TMEM196_ENST00000405844.1_Silent_p.L124L|TMEM196_ENST00000422233.1_Silent_p.L56L	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	130						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						GTCGACAAGTGAGCCAGGAAG	0.512																																						uc011jyg.1		NA																	0					0						c.(370-372)CTC>CTA		transmembrane protein 196							89.0	78.0	82.0					7																	19765224		2203	4300	6503	SO:0001819	synonymous_variant	256130					integral to membrane		g.chr7:19765224G>T		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.372C>A	7.37:g.19765224G>T						TMEM196_uc003sur.2_RNA	p.L124L	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN			3	457	-			130					Q8N6I6	Silent	SNP	ENST00000405764.3	37	c.372C>A	CCDS34607.2																																																																																				0.512	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		6	107	1	0	0.00116845	0.00118789	6	107				
HOXA4	3201	broad.mit.edu	37	7	27169017	27169017	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:27169017G>C	ENST00000360046.5	-	2	855	c.790C>G	c.(790-792)Cag>Gag	p.Q264E	HOXA4_ENST00000428284.2_Missense_Mutation_p.Q264E|HOXA3_ENST00000521401.1_Intron|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	264					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CTCCGGTTCTGAAACCAGATC	0.582																																						uc003sym.3		NA																	0				breast(1)	1						c.(790-792)CAG>GAG		homeobox A4							225.0	187.0	200.0					7																	27169017		2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169017G>C		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.790C>G	7.37:g.27169017G>C	ENSP00000353151:p.Gln264Glu					HOXA3_uc003syk.2_5'Flank	p.Q264E	NM_002141	NP_002132	Q00056	HXA4_HUMAN			2	837	-			264			Homeobox.		A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.790C>G	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.376872|4.376872	0.82682|0.82682	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000360046;ENST00000428284|ENST00000511914	D;D|.	0.97665|.	-4.48;-4.48|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.000000|.	0.39020|.	N|.	0.001493|.	D|.	0.90940|.	0.7152|.	H|H	0.98682|0.98682	4.3|4.3	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	D|.	0.71184|.	0.972|.	D|.	0.94443|.	0.7660|.	10|.	0.87932|.	D|.	0|.	.|.	18.9816|18.9816	0.92757|0.92757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	264|.	Q00056|.	HXA4_HUMAN|.	E|X	264|83	ENSP00000353151:Q264E;ENSP00000408845:Q264E|.	ENSP00000353151:Q264E|.	Q|S	-|-	1|2	0|0	HOXA4|HOXA4	27135542|27135542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.751000|9.751000	0.98889|0.98889	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	CAG|TCA		0.582	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			11	245	0	0	0	0	11	245				
EGFR	1956	broad.mit.edu	37	7	55240703	55240703	+	Silent	SNP	G	G	A	rs531361756		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:55240703G>A	ENST00000275493.2	+	17	2124	c.1947G>A	c.(1945-1947)ggG>ggA	p.G649G	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.G604G|EGFR_ENST00000454757.2_Silent_p.G596G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	649					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCGCCACTGGGATGGTGGGGG	0.632		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1945-1947)GGG>GGA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93.0	81.0	85.0					7																	55240703		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240703G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1947G>A	7.37:g.55240703G>A		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Silent_p.G604G|EGFR_uc011kco.1_Silent_p.G596G	p.G649G	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2193	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		649			Helical; (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.1947G>A	CCDS5514.1																																																																																				0.632	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	222	0	0	0	0	5	222				
GSAP	54103	broad.mit.edu	37	7	77006225	77006225	+	Splice_Site	SNP	C	C	G	rs10268488		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:77006225C>G	ENST00000257626.7	-	10	760		c.e10-1			NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein						positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TCCTTGATTTCTAAAAGAGAA	0.308																																						uc003ugf.2		NA																	0				central_nervous_system(1)	1						c.e10-1		pigeon homolog							58.0	61.0	60.0					7																	77006225		2201	4294	6495	SO:0001630	splice_region_variant	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:77006225C>G		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.682-1G>C	7.37:g.77006225C>G						PION_uc003ugg.1_Splice_Site_p.K13_splice	p.K228_splice	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			10	761	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Splice_Site	SNP	ENST00000257626.7	37	c.682_splice	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869173	0.72065	.	.	ENSG00000186088	ENST00000257626	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5015	0.90882	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PION	76844161	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.410000	0.52664	2.717000	0.92951	0.650000	0.86243	.		0.308	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439	Intron	7	136	0	0	0	0	7	136				
AKAP9	10142	broad.mit.edu	37	7	91630469	91630469	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:91630469A>G	ENST00000359028.2	+	9	1499	c.1274A>G	c.(1273-1275)cAg>cGg	p.Q425R	AKAP9_ENST00000358100.2_Missense_Mutation_p.Q425R|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q413R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	425	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGACAGCCAGTTCGAAACT	0.393			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1237-1239)CAG>CGG		A-kinase anchor protein 9 isoform 2							75.0	80.0	78.0					7																	91630469		2203	4299	6502	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630469A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1274A>G	7.37:g.91630469A>G	ENSP00000351922:p.Gln425Arg					AKAP9_uc003ule.2_Missense_Mutation_p.Q425R|AKAP9_uc003ulf.2_Missense_Mutation_p.Q413R|AKAP9_uc003uli.2_Missense_Mutation_p.Q38R	p.Q413R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1463	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		425			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1238A>G		.	.	.	.	.	.	.	.	.	.	A	9.882	1.201744	0.22121	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03607	3.92;3.87;3.87	4.89	3.68	0.42216	.	0.411934	0.17966	N	0.156002	T	0.08492	0.0211	L	0.50333	1.59	0.24734	N	0.993075	D;D;D;D	0.65815	0.967;0.981;0.986;0.995	B;P;P;P	0.56563	0.439;0.642;0.744;0.801	T	0.22347	-1.0219	10	0.17832	T	0.49	.	11.1009	0.48174	0.9258:0.0:0.0742:0.0	.	425;413;413;425	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	R	413;425;425;425;425	ENSP00000348573:Q413R;ENSP00000351922:Q425R;ENSP00000350813:Q425R	ENSP00000348573:Q413R	Q	+	2	0	AKAP9	91468405	1.000000	0.71417	0.907000	0.35723	0.694000	0.40290	2.667000	0.46808	0.935000	0.37341	0.528000	0.53228	CAG		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		32	86	0	0	0	0	32	86				
AKAP9	10142	broad.mit.edu	37	7	91726995	91726995	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:91726995G>C	ENST00000359028.2	+	42	10731	c.10506G>C	c.(10504-10506)ttG>ttC	p.L3502F	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3448F|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3498F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3502					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACGCTAAATTGATTGAAATGA	0.393			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(10492-10494)TTG>TTC		A-kinase anchor protein 9 isoform 2							115.0	115.0	115.0					7																	91726995		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91726995G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10506G>C	7.37:g.91726995G>C	ENSP00000351922:p.Leu3502Phe					AKAP9_uc003ulf.2_Missense_Mutation_p.L3490F|AKAP9_uc003uli.2_Missense_Mutation_p.L3121F|AKAP9_uc003ulj.2_Missense_Mutation_p.L1268F|AKAP9_uc003ull.2_Missense_Mutation_p.L394F	p.L3498F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		42	10719	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3502					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.10494G>C		.	.	.	.	.	.	.	.	.	.	G	6.328	0.428614	0.11987	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03889	3.86;3.86;3.9;3.77	4.65	4.65	0.58169	.	0.245920	0.21147	N	0.079384	T	0.11623	0.0283	M	0.65975	2.015	0.35184	D	0.772758	P;P;P;P;P	0.50272	0.498;0.933;0.89;0.933;0.933	B;P;P;P;P	0.51806	0.155;0.68;0.481;0.68;0.68	T	0.05649	-1.0872	10	0.38643	T	0.18	.	10.814	0.46564	0.0879:0.0:0.9121:0.0	.	773;3502;3502;3498;3490	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	F	3498;3502;3448;3502;1344	ENSP00000348573:L3498F;ENSP00000351922:L3502F;ENSP00000350813:L3448F;ENSP00000378042:L1344F	ENSP00000348573:L3498F	L	+	3	2	AKAP9	91564931	1.000000	0.71417	0.988000	0.46212	0.224000	0.24922	1.520000	0.35899	2.566000	0.86566	0.585000	0.79938	TTG		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		5	166	0	0	0	0	5	166				
ZNF394	84124	broad.mit.edu	37	7	99091737	99091737	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:99091737G>C	ENST00000337673.6	-	3	1304	c.1101C>G	c.(1099-1101)ttC>ttG	p.F367L	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	367					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCGTTGTTTGAAACTCTTCC	0.483																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NA																	0					0						c.(1099-1101)TTC>TTG		zinc finger protein 394							145.0	133.0	137.0					7																	99091737		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091737G>C	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1101C>G	7.37:g.99091737G>C	ENSP00000337363:p.Phe367Leu					ZNF394_uc003uqt.2_Missense_Mutation_p.F160L	p.F367L	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			3	1262	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		367			C2H2-type 1.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.1101C>G	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334645	0.60853	.	.	ENSG00000160908	ENST00000337673	T	0.73258	-0.73	3.74	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000333	D	0.82811	0.5118	M	0.88105	2.93	0.41571	D	0.988682	D	0.65815	0.995	D	0.63381	0.914	D	0.84763	0.0763	10	0.66056	D	0.02	.	9.9733	0.41768	0.1032:0.0:0.8968:0.0	.	367	Q53GI3	ZN394_HUMAN	L	367	ENSP00000337363:F367L	ENSP00000337363:F367L	F	-	3	2	ZNF394	98929673	0.754000	0.28360	0.988000	0.46212	0.996000	0.88848	0.554000	0.23407	1.147000	0.42369	0.650000	0.86243	TTC		0.483	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		7	269	0	0	0	0	7	269				
ZAN	7455	broad.mit.edu	37	7	100365621	100365621	+	RNA	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:100365621C>G	ENST00000348028.3	+	0	5193				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCGGCCAGCTCTGTGGGCTGT	0.602																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(5026-5028)CTC>CTG		zonadhesin isoform 3							44.0	51.0	49.0					7																	100365621		2089	4213	6302			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100365621C>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365621C>G						ZAN_uc003uwk.2_Silent_p.L1676L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.L253L	p.L1676L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		26	5193	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1676			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.5028C>G																																																																																					0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	35	0	0	0	0	5	35				
TRIM56	81844	broad.mit.edu	37	7	100732101	100732101	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:100732101G>C	ENST00000306085.6	+	3	1805	c.1508G>C	c.(1507-1509)gGa>gCa	p.G503A		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	503					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGATGCCTGGAGACAAGCGG	0.657																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2		NA																	0				kidney(1)|central_nervous_system(1)|skin(1)	3						c.(1507-1509)GGA>GCA		tripartite motif-containing 56							64.0	73.0	70.0					7																	100732101		1991	4162	6153	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732101G>C	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1508G>C	7.37:g.100732101G>C	ENSP00000305161:p.Gly503Ala					TRIM56_uc003uxr.2_Intron	p.G503A	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	1739	+	Lung NSC(181;0.136)|all_lung(186;0.182)		503					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1508G>C	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829492	0.32329	.	.	ENSG00000169871	ENST00000306085	T	0.52754	0.65	3.88	3.88	0.44766	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.45034	0.1322	N	0.19112	0.55	0.24788	N	0.992772	D	0.62365	0.991	P	0.55055	0.767	T	0.22906	-1.0203	9	0.38643	T	0.18	.	11.615	0.51083	0.0:0.0:1.0:0.0	.	503	Q9BRZ2	TRI56_HUMAN	A	503	ENSP00000305161:G503A	ENSP00000305161:G503A	G	+	2	0	TRIM56	100518821	0.967000	0.33354	0.375000	0.26029	0.071000	0.16799	3.012000	0.49575	2.445000	0.82738	0.585000	0.79938	GGA		0.657	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		82	194	0	0	0	0	82	194				
KMT2E	55904	broad.mit.edu	37	7	104746007	104746007	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:104746007C>G	ENST00000311117.3	+	18	2863	c.2318C>G	c.(2317-2319)tCt>tGt	p.S773C	KMT2E_ENST00000257745.4_Missense_Mutation_p.S773C|KMT2E_ENST00000334914.7_5'UTR|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.S773C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	773					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CAACTCAATTCTTTACCAGGT	0.398																																						uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2317-2319)TCT>TGT		myeloid/lymphoid or mixed-lineage leukemia 5							140.0	140.0	140.0					7																	104746007		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104746007C>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2318C>G	7.37:g.104746007C>G	ENSP00000312379:p.Ser773Cys					MLL5_uc010ljc.2_Missense_Mutation_p.S773C|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank	p.S773C	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			18	2852	+			773					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2318C>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844468	0.51164	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91894	-2.93;-2.54;-2.93	6.04	5.17	0.71159	.	0.164217	0.56097	D	0.000036	D	0.91050	0.7184	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	P	0.49999	0.628	D	0.90999	0.4841	10	0.48119	T	0.1	.	15.1945	0.73075	0.0:0.933:0.0:0.067	.	773	Q8IZD2	MLL5_HUMAN	C	773;773;773;693;773	ENSP00000312379:S773C;ENSP00000335599:S773C;ENSP00000257745:S773C	ENSP00000257745:S773C	S	+	2	0	MLL5	104533243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	1.574000	0.49760	0.563000	0.77884	TCT		0.398	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			8	236	0	0	0	0	8	236				
NRCAM	4897	broad.mit.edu	37	7	107866759	107866759	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:107866759G>T	ENST00000425651.2	-	6	613	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	NRCAM_ENST00000413765.2_Missense_Mutation_p.S205Y|NRCAM_ENST00000379028.3_Missense_Mutation_p.S205Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.S205Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.S205Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.S199Y	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	205	Ig-like 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GAGGACATTGGAAAAATAAAG	0.413																																						uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(613-615)TCC>TAC		neuronal cell adhesion molecule isoform A							113.0	122.0	119.0					7																	107866759		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107866759G>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.614C>A	7.37:g.107866759G>T	ENSP00000401244:p.Ser205Tyr					NRCAM_uc003vfc.2_Missense_Mutation_p.S199Y|NRCAM_uc011kmk.1_Missense_Mutation_p.S200Y|NRCAM_uc003vfd.2_Missense_Mutation_p.S200Y|NRCAM_uc003vfe.2_Missense_Mutation_p.S200Y	p.S205Y	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			9	1085	-			205			Ig-like 2.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.614C>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077926	0.94000	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.03982	3.74;3.74;3.74;3.74;3.74;3.74;3.74	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.999;0.999	T	0.06180	-1.0841	10	0.87932	D	0	.	19.8713	0.96852	0.0:0.0:1.0:0.0	.	205;205;205;199;205	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	Y	205;205;205;205;199;205;205;205;199;199	ENSP00000368314:S205Y;ENSP00000407858:S205Y;ENSP00000325269:S199Y;ENSP00000368310:S205Y;ENSP00000401244:S205Y;ENSP00000368308:S205Y;ENSP00000390421:S199Y	ENSP00000325269:S199Y	S	-	2	0	NRCAM	107653995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.761000	0.94854	0.650000	0.86243	TCC		0.413	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		8	279	1	0	2.18e-05	2.24e-05	8	279				
NRCAM	4897	broad.mit.edu	37	7	107866787	107866787	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:107866787G>C	ENST00000425651.2	-	6	585	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	NRCAM_ENST00000413765.2_Missense_Mutation_p.Q196E|NRCAM_ENST00000379028.3_Missense_Mutation_p.Q196E|NRCAM_ENST00000379024.4_Missense_Mutation_p.Q196E|NRCAM_ENST00000379022.4_Missense_Mutation_p.Q196E|NRCAM_ENST00000351718.4_Missense_Mutation_p.Q190E	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	196	Ig-like 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTCAAACCTTGAGAAACTCTC	0.403																																						uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(586-588)CAA>GAA		neuronal cell adhesion molecule isoform A							93.0	102.0	99.0					7																	107866787		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107866787G>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.586C>G	7.37:g.107866787G>C	ENSP00000401244:p.Gln196Glu					NRCAM_uc003vfc.2_Missense_Mutation_p.Q190E|NRCAM_uc011kmk.1_Missense_Mutation_p.Q191E|NRCAM_uc003vfd.2_Missense_Mutation_p.Q191E|NRCAM_uc003vfe.2_Missense_Mutation_p.Q191E	p.Q196E	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			9	1057	-			196			Ig-like 2.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.586C>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997143	0.93167	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.049886	0.85682	D	0.000000	T	0.71169	0.3308	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.997;0.998	D;D;D;D;P	0.83275	0.945;0.996;0.967;0.92;0.908	T	0.73748	-0.3885	10	0.52906	T	0.07	.	19.8713	0.96852	0.0:0.0:1.0:0.0	.	196;196;196;190;196	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	E	196;196;196;196;190;196;196;196;190;190	ENSP00000368314:Q196E;ENSP00000407858:Q196E;ENSP00000325269:Q190E;ENSP00000368310:Q196E;ENSP00000401244:Q196E;ENSP00000368308:Q196E;ENSP00000390421:Q190E	ENSP00000325269:Q190E	Q	-	1	0	NRCAM	107654023	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.809000	0.99208	2.761000	0.94854	0.650000	0.86243	CAA		0.403	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		6	252	0	0	0	0	6	252				
DOCK4	9732	broad.mit.edu	37	7	111368537	111368537	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:111368537C>G	ENST00000437633.1	-	52	5950	c.5694G>C	c.(5692-5694)aaG>aaC	p.K1898N	DOCK4_ENST00000494651.2_Missense_Mutation_p.K781N|DOCK4_ENST00000428084.1_Missense_Mutation_p.K1907N	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1898	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGGCGGAGTCTTGCTCTCCT	0.692																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(5692-5694)AAG>AAC		dedicator of cytokinesis 4							23.0	30.0	28.0					7																	111368537		2079	4192	6271	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368537C>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5694G>C	7.37:g.111368537C>G	ENSP00000404179:p.Lys1898Asn					DOCK4_uc011kml.1_Missense_Mutation_p.K779N|DOCK4_uc011kmm.1_Missense_Mutation_p.K767N|DOCK4_uc003vfw.2_Missense_Mutation_p.K1310N|DOCK4_uc003vfy.2_Missense_Mutation_p.K1943N|DOCK4_uc003vfv.2_Missense_Mutation_p.K211N	p.K1898N	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			52	5963	-		Acute lymphoblastic leukemia(1;0.0441)	1898			Pro-rich.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.5694G>C	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.16|19.16	3.773474|3.773474	0.69992|0.69992	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.36878|.	1.23;1.23;1.23|.	5.59|5.59	-2.29|-2.29	0.06805|0.06805	.|.	0.048003|.	0.85682|.	D|.	0.000000|.	T|T	0.64649|0.64649	0.2617|0.2617	L|L	0.57536|0.57536	1.79|1.79	0.42809|0.42809	D|D	0.99395|0.99395	B;D;D;B;D;D|.	0.65815|.	0.155;0.96;0.995;0.048;0.989;0.993|.	B;P;P;B;D;P|.	0.75020|.	0.096;0.547;0.829;0.06;0.985;0.849|.	T|T	0.62937|0.62937	-0.6748|-0.6748	10|5	0.32370|.	T|.	0.25|.	.|.	13.6309|13.6309	0.62193|0.62193	0.0:0.3691:0.0:0.6309|0.0:0.3691:0.0:0.6309	.|.	767;781;1943;1898;1869;211|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4|.	.;.;.;DOCK4_HUMAN;.;.|.	N|T	1886;1907;781;1898;1857|1321;1931	ENSP00000410746:K1907N;ENSP00000440944:K781N;ENSP00000404179:K1898N|.	ENSP00000345432:K1857N|.	K|R	-|-	3|2	2|0	DOCK4|DOCK4	111155773|111155773	0.884000|0.884000	0.30299|0.30299	0.635000|0.635000	0.29338|0.29338	0.940000|0.940000	0.58332|0.58332	-0.030000|-0.030000	0.12308|0.12308	-0.483000|-0.483000	0.06772|0.06772	-0.150000|-0.150000	0.13652|0.13652	AAG|AGA		0.692	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	71	0	0	0	0	4	71				
STRIP2	57464	broad.mit.edu	37	7	129122805	129122805	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:129122805G>C	ENST00000249344.2	+	20	2212	c.2172G>C	c.(2170-2172)tgG>tgC	p.W724C	RNU1-72P_ENST00000362976.1_RNA|STRIP2_ENST00000435494.2_Missense_Mutation_p.W724C	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	724					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GGCGCCAATGGAGGAAAAGCA	0.488																																						uc011koy.1		NA																	0					0						c.(2170-2172)TGG>TGC		hypothetical protein LOC57464 isoform a							102.0	88.0	93.0					7																	129122805		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129122805G>C	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2172G>C	7.37:g.129122805G>C	ENSP00000249344:p.Trp724Cys					FAM40B_uc003vow.2_Missense_Mutation_p.W724C|FAM40B_uc011koz.1_Missense_Mutation_p.W216C	p.W724C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			20	2212	+			724					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.2172G>C	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387213	0.82902	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	D;D	0.91894	-2.91;-2.93	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98005	1.0362	10	0.87932	D	0	-13.3612	18.3428	0.90311	0.0:0.0:1.0:0.0	.	724;724	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	C	724	ENSP00000249344:W724C;ENSP00000392393:W724C	ENSP00000249344:W724C	W	+	3	0	FAM40B	128910041	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.797000	0.99108	2.662000	0.90505	0.655000	0.94253	TGG		0.488	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		7	107	0	0	0	0	7	107				
DGKI	9162	broad.mit.edu	37	7	137363312	137363312	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:137363312G>C	ENST00000288490.5	-	3	597	c.597C>G	c.(595-597)gtC>gtG	p.V199V	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000446122.1_Silent_p.V199V|DGKI_ENST00000424189.2_Silent_p.V199V	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	199					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGCAAATCTGACTTGGCAGT	0.532																																						uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(595-597)GTC>GTG		diacylglycerol kinase, iota							219.0	201.0	207.0					7																	137363312		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137363312G>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.597C>G	7.37:g.137363312G>C						DGKI_uc003vtu.2_5'UTR	p.V199V	NM_004717	NP_004708	O75912	DGKI_HUMAN			3	598	-			199			Phorbol-ester/DAG-type 1.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.597C>G	CCDS5845.1																																																																																				0.532	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		23	473	0	0	0	0	23	473				
KDM7A	80853	broad.mit.edu	37	7	139827294	139827294	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:139827294G>A	ENST00000397560.2	-	5	746	c.649C>T	c.(649-651)Cct>Tct	p.P217S	JHDM1D_ENST00000006967.5_Missense_Mutation_p.P217S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		217					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GGTCTGTTAGGATTCATGAAG	0.378																																						uc003vvm.2		NA																	0				ovary(1)	1						c.(649-651)CCT>TCT		jumonji C domain containing histone demethylase							191.0	185.0	187.0					7																	139827294		1929	4138	6067	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139827294G>A																												ENST00000397560.2:c.649C>T	7.37:g.139827294G>A	ENSP00000380692:p.Pro217Ser						p.P217S	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			5	653	-	Melanoma(164;0.0142)		217					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.649C>T	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267667	0.80469	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.70869	-0.52;-0.52	5.98	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.76282	-0.3016	10	0.28530	T	0.3	-16.1615	15.3248	0.74150	0.0671:0.0:0.9329:0.0	.	217	Q6ZMT4	KDM7_HUMAN	S	217	ENSP00000380692:P217S;ENSP00000006967:P217S	ENSP00000006967:P217S	P	-	1	0	JHDM1D	139473763	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.603000	0.74145	1.537000	0.49254	0.655000	0.94253	CCT		0.378	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			11	227	0	0	0	0	11	227				
BRAF	673	broad.mit.edu	37	7	140434447	140434447	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:140434447G>C	ENST00000288602.6	-	18	2311	c.2251C>G	c.(2251-2253)Cca>Gca	p.P751A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	751					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GGTGTTTTTGGAGAAGCACAA	0.463		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	0				thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(2251-2253)CCA>GCA		B-Raf	Sorafenib(DB00398)						218.0	225.0	223.0					7																	140434447		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140434447G>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.2251C>G	7.37:g.140434447G>C	ENSP00000288602:p.Pro751Ala						p.P751A	NM_004333	NP_004324	P15056	BRAF_HUMAN			18	2312	-	Melanoma(164;0.00956)		751					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.2251C>G	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040578	0.93630	.	.	ENSG00000157764	ENST00000288602	T	0.75477	-0.94	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83431	0.0038	10	0.72032	D	0.01	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	751	P15056	BRAF_HUMAN	A	751	ENSP00000288602:P751A	ENSP00000288602:P751A	P	-	1	0	BRAF	140080916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	CCA		0.463	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	609	0	0	0	0	28	609				
PDIA4	9601	broad.mit.edu	37	7	148702240	148702240	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:148702240G>A	ENST00000286091.4	-	9	1747	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	505	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CACCTTTTTTGAAAGCAGTGA	0.602																																						uc003wff.2		NA																	0				lung(5)|ovary(1)	6						c.(1513-1515)TTC>TTT		protein disulfide isomerase A4 precursor							115.0	115.0	115.0					7																	148702240		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702240G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1515C>T	7.37:g.148702240G>A							p.F505F	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1797	-	Melanoma(164;0.15)		505			Thioredoxin 3.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.1515C>T	CCDS5893.1																																																																																				0.602	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		12	328	0	0	0	0	12	328				
CSGALNACT1	55790	broad.mit.edu	37	8	19316071	19316071	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:19316071G>A	ENST00000454498.2	-	5	1730	c.717C>T	c.(715-717)ctC>ctT	p.L239L	CSGALNACT1_ENST00000544602.1_Silent_p.L239L|CSGALNACT1_ENST00000311540.4_Silent_p.L239L|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.L239L|CSGALNACT1_ENST00000522854.1_Silent_p.L239L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	239					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.L239L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAAATAAGATGAGCCGTTTGA	0.433																																						uc011kyn.1		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(715-717)CTC>CTT		chondroitin sulfate							305.0	280.0	288.0					8																	19316071		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316071G>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.717C>T	8.37:g.19316071G>A						CSGALNACT1_uc011kyo.1_Silent_p.L239L|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.L238L|CSGALNACT1_uc003wzh.2_RNA	p.L239L	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1781	-			239			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.717C>T	CCDS6010.1																																																																																				0.433	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		20	529	0	0	0	0	20	529				
PDLIM2	64236	broad.mit.edu	37	8	22438988	22438988	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:22438988G>C	ENST00000397760.4	+	3	590	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PDLIM2_ENST00000308354.7_Missense_Mutation_p.E314Q|PDLIM2_ENST00000265810.4_Missense_Mutation_p.E64Q|PDLIM2_ENST00000409141.1_Missense_Mutation_p.E64Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.E64Q|PDLIM2_ENST00000397761.2_Missense_Mutation_p.E64Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.E64Q			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	64	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGCATGCCGAGGCCCAGAG	0.682																																						uc003xby.2		NA																	0					0						c.(190-192)GAG>CAG		PDZ and LIM domain 2 isoform 2							78.0	68.0	72.0					8																	22438988		2203	4299	6502	SO:0001583	missense	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22438988G>C	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.190G>C	8.37:g.22438988G>C	ENSP00000380867:p.Glu64Gln					PDLIM2_uc003xbx.1_Missense_Mutation_p.E64Q|PDLIM2_uc003xbz.2_Missense_Mutation_p.E64Q|PDLIM2_uc003xca.2_Missense_Mutation_p.E64Q|PDLIM2_uc003xcb.2_Missense_Mutation_p.E64Q|PDLIM2_uc003xcc.1_Missense_Mutation_p.E64Q	p.E64Q	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	3	590	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	64			PDZ.		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37	c.190G>C		.	.	.	.	.	.	.	.	.	.	G	16.20	3.054981	0.55325	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;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;1.65;1.65	4.99	3.14	0.36123	PDZ/DHR/GLGF (4);	0.064020	0.64402	N	0.000011	T	0.42698	0.1214	L	0.43152	1.355	0.43540	D	0.995831	D;D;P;D	0.89917	1.0;1.0;0.573;1.0	D;D;B;D	0.91635	0.998;0.999;0.428;0.999	T	0.19582	-1.0301	10	0.62326	D	0.03	-23.9764	7.7068	0.28655	0.0898:0.1647:0.7455:0.0	.	64;64;64;64	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	Q	64;314;64;64;64;64;64;64;64;64;64;64;64	ENSP00000401992:E64Q;ENSP00000312634:E314Q;ENSP00000394376:E64Q;ENSP00000380867:E64Q;ENSP00000342035:E64Q;ENSP00000380868:E64Q;ENSP00000397738:E64Q;ENSP00000392920:E64Q;ENSP00000407643:E64Q;ENSP00000386868:E64Q;ENSP00000265810:E64Q;ENSP00000387084:E64Q	ENSP00000265810:E64Q	E	+	1	0	PDLIM2	22494933	1.000000	0.71417	0.516000	0.27786	0.274000	0.26718	4.800000	0.62524	0.474000	0.27392	-0.136000	0.14681	GAG		0.682	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1			3	60	0	0	0	0	3	60				
TACC1	6867	broad.mit.edu	37	8	38677342	38677342	+	Missense_Mutation	SNP	G	G	A	rs556805764		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:38677342G>A	ENST00000317827.4	+	3	959	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TACC1_ENST00000518415.1_Missense_Mutation_p.E149K|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000379931.3_Missense_Mutation_p.E194K|TACC1_ENST00000520340.1_Missense_Mutation_p.E158K|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.E210K|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	194	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTCCAGGACGAGGCGATGAC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18070	0.001		0.0	False		,,,				2504	0.0					uc010lwp.2		NA																	0				ovary(1)	1						c.(580-582)GAG>AAG		transforming, acidic coiled-coil containing							52.0	56.0	54.0					8																	38677342		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677342G>A	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.580G>A	8.37:g.38677342G>A	ENSP00000321703:p.Glu194Lys					TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_5'UTR|TACC1_uc003xmc.3_5'UTR|TACC1_uc011lbz.1_Missense_Mutation_p.E210K|TACC1_uc003xmb.3_Missense_Mutation_p.E149K|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Missense_Mutation_p.E194K|TACC1_uc011lcb.1_5'UTR|TACC1_uc011lcc.1_5'UTR|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_5'UTR|TACC1_uc010lwq.2_5'UTR	p.E194K	NM_006283	NP_006274	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	959	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	194			Interaction with TDRD7.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.580G>A	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	G	0.849	-0.739386	0.03088	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.09723	3.12;3.13;2.95;3.11;3.1	5.01	-7.37	0.01412	.	1.192680	0.05758	N	0.604452	T	0.04815	0.0130	N	0.13043	0.29	0.09310	N	1	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.04013	0.0;0.0;0.001	T	0.43940	-0.9360	10	0.09843	T	0.71	0.0197	8.6535	0.34049	0.1823:0.4416:0.3761:0.0	.	210;194;149	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	K	210;149;166;194;194	ENSP00000393647:E210K;ENSP00000428706:E149K;ENSP00000430355:E166K;ENSP00000321703:E194K;ENSP00000369263:E194K	ENSP00000321703:E194K	E	+	1	0	TACC1	38796499	0.000000	0.05858	0.032000	0.17829	0.025000	0.11179	-0.743000	0.04845	-1.578000	0.01648	-1.087000	0.02190	GAG		0.597	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		8	257	0	0	0	0	8	257				
HOOK3	84376	broad.mit.edu	37	8	42823326	42823326	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:42823326C>T	ENST00000307602.4	+	11	1291	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	364					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCCAACGCAGCGCGAAGTCAA	0.418			T	RET	papillary thyroid																																	uc003xpr.2		NA		Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				ovary(1)|breast(1)	2						c.(1090-1092)GCG>GTG		golgi-associated microtubule-binding protein							77.0	73.0	74.0					8																	42823326		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42823326C>T	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1091C>T	8.37:g.42823326C>T	ENSP00000305699:p.Ala364Val					HOOK3_uc010lxq.1_Missense_Mutation_p.A364V	p.A364V	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		11	1333	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	364			Potential.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1091C>T	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	9.465	1.094239	0.20471	.	.	ENSG00000168172	ENST00000307602	T	0.19250	2.16	5.37	5.37	0.77165	.	0.152015	0.56097	D	0.000021	T	0.30324	0.0761	L	0.55990	1.75	0.58432	D	0.999998	D;B	0.56287	0.975;0.408	P;B	0.49301	0.606;0.114	T	0.01805	-1.1270	10	0.17369	T	0.5	-14.143	19.0793	0.93175	0.0:1.0:0.0:0.0	.	364;364	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	V	364	ENSP00000305699:A364V	ENSP00000305699:A364V	A	+	2	0	HOOK3	42942483	1.000000	0.71417	0.963000	0.40424	0.717000	0.41224	7.776000	0.85560	2.649000	0.89929	0.655000	0.94253	GCG		0.418	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		4	72	0	0	0	0	4	72				
ST18	9705	broad.mit.edu	37	8	53079543	53079543	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:53079543G>A	ENST00000276480.7	-	11	1756	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	358					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGCCTTGGTGAATCTATGGA	0.493																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(1072-1074)TCA>TTA		suppression of tumorigenicity 18							128.0	137.0	134.0					8																	53079543		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079543G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1073C>T	8.37:g.53079543G>A	ENSP00000276480:p.Ser358Leu					ST18_uc011ldq.1_Missense_Mutation_p.S5L|ST18_uc011ldr.1_Missense_Mutation_p.S323L|ST18_uc011lds.1_Missense_Mutation_p.S263L|ST18_uc003xra.2_Missense_Mutation_p.S358L|ST18_uc003xrb.2_Missense_Mutation_p.S358L	p.S358L	NM_014682	NP_055497	O60284	ST18_HUMAN			6	1229	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	358					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1073C>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272951	0.59649	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.50813	0.73;0.75	5.7	5.7	0.88788	.	0.063724	0.64402	D	0.000004	T	0.34395	0.0896	L	0.29908	0.895	0.58432	D	0.999998	B;B	0.21821	0.034;0.061	B;B	0.19946	0.01;0.027	T	0.13202	-1.0518	10	0.10636	T	0.68	-11.0753	14.0345	0.64636	0.072:0.0:0.928:0.0	.	358;358	E5RHS3;O60284	.;ST18_HUMAN	L	358	ENSP00000276480:S358L;ENSP00000428521:S358L	ENSP00000276480:S358L	S	-	2	0	ST18	53242096	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.458000	0.73509	2.678000	0.91216	0.655000	0.94253	TCA		0.493	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			158	177	0	0	0	0	158	177				
LY96	23643	broad.mit.edu	37	8	74922333	74922333	+	Silent	SNP	C	C	T	rs148048520		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:74922333C>T	ENST00000284818.2	+	3	391	c.300C>T	c.(298-300)gaC>gaT	p.D100D	LY96_ENST00000518893.1_Silent_p.D70D	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	100					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GATCTGATGACGATTACTCTT	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		16156	0.001		0.0	False		,,,				2504	0.0				GBM(131;1357 1748 34893 50149 52212)	uc003yad.2		NA																	0					0						c.(298-300)GAC>GAT		MD-2 protein precursor		C	,	0,4406		0,0,2203	102.0	98.0	100.0		210,300	2.3	0.6	8	dbSNP_134	100	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous	LY96	NM_001195797.1,NM_015364.4	,	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	,	70/131,100/161	74922333	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922333C>T	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.300C>T	8.37:g.74922333C>T							p.D100D	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	391	+	Breast(64;0.0311)		100					B3Y6A5|E5RJJ7	Silent	SNP	ENST00000284818.2	37	c.300C>T	CCDS6216.1																																																																																				0.313	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		92	90	0	0	0	0	92	90				
ZNF704	619279	broad.mit.edu	37	8	81733769	81733769	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:81733769G>C	ENST00000327835.3	-	2	292	c.61C>G	c.(61-63)Caa>Gaa	p.Q21E		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	21							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AACACGTGTTGATGAGACATT	0.438																																						uc003yby.1		NA																	0					0						c.(61-63)CAA>GAA		zinc finger protein 704							268.0	254.0	259.0					8																	81733769		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81733769G>C	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.61C>G	8.37:g.81733769G>C	ENSP00000331462:p.Gln21Glu						p.Q21E	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	293	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		21					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.61C>G	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104433	0.56291	.	.	ENSG00000164684	ENST00000327835;ENST00000519936	T;T	0.47177	1.5;0.85	5.8	5.8	0.92144	.	0.459154	0.21812	N	0.068745	T	0.32615	0.0835	N	0.14661	0.345	0.32567	N	0.53035	B	0.27656	0.184	B	0.21708	0.036	T	0.27571	-1.0070	10	0.19590	T	0.45	-2.5756	18.2368	0.89951	0.0:0.0:1.0:0.0	.	21	Q6ZNC4	ZN704_HUMAN	E	21	ENSP00000331462:Q21E;ENSP00000427715:Q21E	ENSP00000331462:Q21E	Q	-	1	0	ZNF704	81896324	1.000000	0.71417	0.990000	0.47175	0.905000	0.53344	6.394000	0.73223	2.746000	0.94184	0.563000	0.77884	CAA		0.438	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		23	783	0	0	0	0	23	783				
PDP1	54704	broad.mit.edu	37	8	94934633	94934633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:94934633C>T	ENST00000297598.4	+	2	615	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	PDP1_ENST00000396200.3_Nonsense_Mutation_p.Q141*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.Q116*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.Q116*	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	116				NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480). {ECO:0000305}.	cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TGACAGCAATCAGCTGCCTGC	0.463																																						uc003yge.2		NA																	0				ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(346-348)CAG>TAG		pyruvate dehyrogenase phosphatase catalytic							88.0	92.0	90.0					8																	94934633		2203	4300	6503	SO:0001587	stop_gained	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934633C>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.346C>T	8.37:g.94934633C>T	ENSP00000297598:p.Gln116*					PDP1_uc003ygf.2_Nonsense_Mutation_p.Q141*|PDP1_uc010max.2_Nonsense_Mutation_p.Q141*|PDP1_uc011lgm.1_Nonsense_Mutation_p.Q116*|PDP1_uc011lgn.1_Nonsense_Mutation_p.Q175*	p.Q116*	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN			2	615	+			116	NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480).				B3KX71|J3KPU0|Q5U5K1	Nonsense_Mutation	SNP	ENST00000297598.4	37	c.346C>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196332	0.94960	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	.	.	.	6.03	6.03	0.97812	.	0.120323	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.0857	20.5753	0.99366	0.0:1.0:0.0:0.0	.	.	.	.	X	116;116;141;116;116;116;116	.	ENSP00000297598:Q116X	Q	+	1	0	PDP1	95003809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.868000	0.98415	0.557000	0.71058	CAG		0.463	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		11	318	0	0	0	0	11	318				
ATAD2	29028	broad.mit.edu	37	8	124358863	124358863	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:124358863C>G	ENST00000287394.5	-	17	2447	c.2340G>C	c.(2338-2340)ttG>ttC	p.L780F	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.L98F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	780					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATACCTATTCAAATGAAGAA	0.279																																						uc003yqh.3		NA																	0				ovary(2)	2						c.(2338-2340)TTG>TTC		ATPase family, AAA domain containing 2							35.0	38.0	37.0					8																	124358863		2196	4295	6491	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124358863C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2340G>C	8.37:g.124358863C>G	ENSP00000287394:p.Leu780Phe					ATAD2_uc011lii.1_Missense_Mutation_p.L571F|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.L780F	p.L780F	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		17	2448	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		780					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2340G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	2.774	-0.255055	0.05829	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91996	-2.95;1.48	6.02	0.967	0.19674	.	0.273611	0.34025	N	0.004334	T	0.70535	0.3235	N	0.02751	-0.505	0.33880	D	0.635974	B	0.11235	0.004	B	0.10450	0.005	T	0.63088	-0.6715	10	0.02654	T	1	-8.4989	0.6212	0.00778	0.2103:0.3254:0.1328:0.3316	.	780	Q6PL18	ATAD2_HUMAN	F	780;98	ENSP00000287394:L780F;ENSP00000429213:L98F	ENSP00000287394:L780F	L	-	3	2	ATAD2	124428044	0.623000	0.27094	1.000000	0.80357	0.991000	0.79684	-0.145000	0.10265	0.424000	0.26061	-0.157000	0.13467	TTG		0.279	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		3	91	0	0	0	0	3	91				
SLC45A4	57210	broad.mit.edu	37	8	142228605	142228605	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:142228605C>G	ENST00000024061.3	-	4	1288	c.981G>C	c.(979-981)ttG>ttC	p.L327F	SLC45A4_ENST00000519067.1_Missense_Mutation_p.L327F|SLC45A4_ENST00000433583.2_Missense_Mutation_p.L320F|SLC45A4_ENST00000517878.1_Missense_Mutation_p.L378F	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGCTTCATTCAAGTGATTAT	0.617																																						uc003ywd.1		NA																	0				ovary(2)	2						c.(979-981)TTG>TTC		solute carrier family 45, member 4							49.0	50.0	49.0					8																	142228605		2202	4298	6500	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228605C>G	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.981G>C	8.37:g.142228605C>G	ENSP00000024061:p.Leu327Phe					SLC45A4_uc003ywc.1_Missense_Mutation_p.L327F|SLC45A4_uc010meq.1_Missense_Mutation_p.L325F	p.L327F	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1289	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		378					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.981G>C	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	7.895	0.733247	0.15574	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.16457	2.38;2.36;2.37;2.34	5.93	4.12	0.48240	.	1.639890	0.03132	N	0.165356	T	0.18299	0.0439	L	0.59436	1.845	0.09310	N	0.999994	B;B;B	0.20368	0.044;0.013;0.004	B;B;B	0.18871	0.016;0.023;0.01	T	0.39272	-0.9622	10	0.13853	T	0.58	-1.8214	3.7772	0.08665	0.1357:0.5843:0.1315:0.1484	.	378;327;327	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	F	327;378;320;327	ENSP00000429059:L327F;ENSP00000428137:L378F;ENSP00000400799:L320F;ENSP00000024061:L327F	ENSP00000024061:L327F	L	-	3	2	SLC45A4	142297787	0.000000	0.05858	0.001000	0.08648	0.486000	0.33341	-0.912000	0.04046	0.822000	0.34565	0.561000	0.74099	TTG		0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		4	175	0	0	0	0	4	175				
KIAA2026	158358	broad.mit.edu	37	9	5920395	5920395	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:5920395G>A	ENST00000399933.3	-	8	5600	c.5601C>T	c.(5599-5601)ttC>ttT	p.F1867F	KIAA2026_ENST00000381461.2_Silent_p.F1837F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1867										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGGTTCACTGAACTGACTCC	0.448																																						uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5599-5601)TTC>TTT		hypothetical protein LOC158358							193.0	197.0	196.0					9																	5920395		1992	4169	6161	SO:0001819	synonymous_variant	158358							g.chr9:5920395G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5601C>T	9.37:g.5920395G>A						KIAA2026_uc010mht.2_Silent_p.F1042F	p.F1867F	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5817	-		Acute lymphoblastic leukemia(23;0.158)	1867					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.5601C>T																																																																																					0.448	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		13	345	0	0	0	0	13	345				
BNC2	54796	broad.mit.edu	37	9	16435892	16435892	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:16435892G>A	ENST00000380672.4	-	6	2357	c.2300C>T	c.(2299-2301)tCt>tTt	p.S767F	BNC2_ENST00000545497.1_Missense_Mutation_p.S672F|BNC2_ENST00000380667.2_Missense_Mutation_p.S700F|BNC2_ENST00000380666.2_Missense_Mutation_p.S767F	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTCCTGGTGAGAGGGCTCACT	0.502																																						uc003zml.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2299-2301)TCT>TTT		basonuclin 2							106.0	87.0	93.0					9																	16435892		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435892G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2300C>T	9.37:g.16435892G>A	ENSP00000370047:p.Ser767Phe					BNC2_uc011lmw.1_Missense_Mutation_p.S672F|BNC2_uc003zmm.2_Missense_Mutation_p.S725F|BNC2_uc003zmq.1_Missense_Mutation_p.S781F|BNC2_uc003zmr.1_Missense_Mutation_p.S804F|BNC2_uc003zmp.1_Missense_Mutation_p.S795F|BNC2_uc010mij.1_Missense_Mutation_p.S689F|BNC2_uc011lmv.1_Missense_Mutation_p.S593F|BNC2_uc003zmo.1_Missense_Mutation_p.S689F|BNC2_uc003zmj.2_Missense_Mutation_p.S532F|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S532F|BNC2_uc003zmn.1_Missense_Mutation_p.S532F	p.S767F	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2440	-			767						Missense_Mutation	SNP	ENST00000380672.4	37	c.2300C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195584	0.38806	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.50277	1.39;0.75;1.39;1.41;1.4;1.39	5.57	5.57	0.84162	.	0.215741	0.49916	D	0.000127	T	0.39384	0.1076	L	0.29908	0.895	0.41044	D	0.985254	B;B;B;B;B;B;B;B;B	0.32467	0.189;0.119;0.372;0.372;0.189;0.119;0.119;0.119;0.119	B;B;B;B;B;B;B;B;B	0.36289	0.047;0.029;0.147;0.221;0.102;0.029;0.047;0.047;0.029	T	0.22138	-1.0225	10	0.30854	T	0.27	-11.1938	14.4008	0.67044	0.0:0.0:0.8524:0.1476	.	672;700;767;593;767;724;767;672;532	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	F	767;160;724;700;672;593;767;767	ENSP00000370047:S767F;ENSP00000392212:S160F;ENSP00000408370:S724F;ENSP00000370042:S700F;ENSP00000444640:S672F;ENSP00000370041:S767F	ENSP00000370041:S767F	S	-	2	0	BNC2	16425892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.517000	0.73759	2.622000	0.88805	0.655000	0.94253	TCT		0.502	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		4	99	0	0	0	0	4	99				
DENND4C	55667	broad.mit.edu	37	9	19316773	19316773	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:19316773C>G	ENST00000380432.2	+	8	1068	c.1035C>G	c.(1033-1035)ctC>ctG	p.L345L	DENND4C_ENST00000434457.2_Silent_p.L581L|DENND4C_ENST00000602925.1_Silent_p.L581L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	345	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAACATATCTCAGACCAATCA	0.393																																						uc003znq.2		NA																	0				ovary(1)|skin(1)	2						c.(1033-1035)CTC>CTG		DENN/MADD domain containing 4C							111.0	124.0	119.0					9																	19316773		2203	4300	6503	SO:0001819	synonymous_variant	55667					integral to membrane		g.chr9:19316773C>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1035C>G	9.37:g.19316773C>G						DENND4C_uc011lnc.1_5'UTR	p.L345L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			8	1068	+			345			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37	c.1035C>G																																																																																					0.393	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		6	314	0	0	0	0	6	314				
FOCAD	54914	broad.mit.edu	37	9	20820388	20820388	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:20820388C>G	ENST00000380249.1	+	15	1990	c.1626C>G	c.(1624-1626)gtC>gtG	p.V542V	FOCAD_ENST00000338382.6_Silent_p.V542V|FOCAD_ENST00000605086.1_5'UTR	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	542						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TAAGAGCTGTCACTTTGCGCT	0.353																																						uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(1624-1626)GTC>GTG		hypothetical protein LOC54914							114.0	108.0	110.0					9																	20820388		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20820388C>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1626C>G	9.37:g.20820388C>G						KIAA1797_uc003zoh.1_5'UTR	p.V542V	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	15	1989	+			542					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.1626C>G	CCDS34993.1																																																																																				0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		4	175	0	0	0	0	4	175				
IFNE	338376	broad.mit.edu	37	9	21481364	21481364	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:21481364G>A	ENST00000448696.3	-	1	948	c.330C>T	c.(328-330)ctC>ctT	p.L110L	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	110					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						GAAGTTGAATGAGGAATTTCT	0.448																																						uc003zpg.2		NA																	0					0						c.(328-330)CTC>CTT		interferon, epsilon precursor							173.0	166.0	168.0					9																	21481364		2203	4300	6503	SO:0001819	synonymous_variant	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481364G>A	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.330C>T	9.37:g.21481364G>A						LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	p.L110L	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN			1	949	-			110						Silent	SNP	ENST00000448696.3	37	c.330C>T	CCDS34997.1																																																																																				0.448	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		11	265	0	0	0	0	11	265				
IFNE	338376	broad.mit.edu	37	9	21481504	21481504	+	Missense_Mutation	SNP	G	G	C	rs568628358		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:21481504G>C	ENST00000448696.3	-	1	808	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	64					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						AAAGACTTCTGAGGAAGCAGA	0.418																																						uc003zpg.2		NA																	0					0						c.(190-192)CAG>GAG		interferon, epsilon precursor							90.0	83.0	86.0					9																	21481504		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481504G>C	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.190C>G	9.37:g.21481504G>C	ENSP00000418018:p.Gln64Glu					LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	p.Q64E	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN			1	809	-			64						Missense_Mutation	SNP	ENST00000448696.3	37	c.190C>G	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	G	3.220	-0.159834	0.06502	.	.	ENSG00000184995	ENST00000448696	T	0.03242	4.0	4.88	1.81	0.25067	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.415059	0.22063	U	0.065148	T	0.04363	0.0120	L	0.58354	1.805	0.09310	N	1	B	0.20164	0.042	B	0.21917	0.037	T	0.33675	-0.9859	10	0.72032	D	0.01	.	3.4801	0.07599	0.0908:0.3144:0.433:0.1618	.	64	Q86WN2	IFNE_HUMAN	E	64	ENSP00000418018:Q64E	ENSP00000418018:Q64E	Q	-	1	0	IFNE	21471504	0.006000	0.16342	0.110000	0.21437	0.096000	0.18686	0.146000	0.16180	0.749000	0.32854	-0.176000	0.13171	CAG		0.418	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		3	118	0	0	0	0	3	118				
GBA2	57704	broad.mit.edu	37	9	35751361	35751361	+	5'Flank	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:35751361G>C	ENST00000378103.3	-	0	0				RGP1_ENST00000378078.4_Missense_Mutation_p.E196Q|RGP1_ENST00000456972.2_Missense_Mutation_p.E236Q|GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_5'Flank|MSMP_ENST00000414286.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCTAGCTGAGCTGGCTGG	0.547																																						uc011lpf.1		NA																	0				ovary(1)	1						c.(586-588)GAG>CAG		RGP1 retrograde golgi transport homolog							84.0	91.0	89.0					9																	35751361		2020	4206	6226	SO:0001631	upstream_gene_variant	9827							g.chr9:35751361G>C	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35751361G>C	Exception_encountered					GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.E236Q	p.E196Q	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	727	+	all_epithelial(49;0.167)		196					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.586G>C	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812987	0.90707	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.82	5.82	0.92795	.	0.094208	0.64402	D	0.000001	T	0.74846	0.3770	M	0.64404	1.975	0.80722	D	1	P;P	0.41546	0.754;0.754	P;P	0.57283	0.817;0.781	T	0.69124	-0.5228	9	0.30078	T	0.28	-17.3998	17.5868	0.87983	0.0:0.0:1.0:0.0	.	196;196	Q92546;A8K0K1	RGP1_HUMAN;.	Q	236;196	.	ENSP00000367318:E196Q	E	+	1	0	RGP1	35741361	1.000000	0.71417	0.958000	0.39756	0.981000	0.71138	8.448000	0.90335	2.756000	0.94617	0.561000	0.74099	GAG		0.547	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		5	139	0	0	0	0	5	139				
NPR2	4882	broad.mit.edu	37	9	35807370	35807370	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:35807370T>C	ENST00000342694.2	+	18	2942	c.2687T>C	c.(2686-2688)aTa>aCa	p.I896T	SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	896	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTTGATGCCATAATTGACAAC	0.443																																						uc003zyd.2		NA																	0				ovary(2)|stomach(1)	3						c.(2686-2688)ATA>ACA		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						199.0	200.0	200.0					9																	35807370		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35807370T>C	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2687T>C	9.37:g.35807370T>C	ENSP00000341083:p.Ile896Thr					NPR2_uc010mlb.2_Missense_Mutation_p.I872T	p.I896T	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		18	2687	+	all_epithelial(49;0.161)		896			Guanylate cyclase.|Cytoplasmic (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.2687T>C	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.53|15.53	2.860155|2.860155	0.51482|0.51482	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000342694;ENST00000447210|ENST00000421267	D;D|.	0.81499|.	-1.5;-1.5|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Adenylyl cyclase class-3/4/guanylyl cyclase (5);|.	0.000000|.	0.49916|.	D|.	0.000133|.	T|.	0.72228|.	0.3434|.	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.995;0.995|.	D;D|.	0.68039|.	0.94;0.955|.	T|.	0.70753|.	-0.4786|.	10|.	0.52906|.	T|.	0.07|.	.|.	15.6572|15.6572	0.77150|0.77150	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	896;896|.	P20594-2;P20594|.	.;ANPRB_HUMAN|.	T|Q	896;155|243	ENSP00000341083:I896T;ENSP00000393029:I155T|.	ENSP00000341083:I896T|.	I|X	+|+	2|1	0|0	NPR2|NPR2	35797370|35797370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.996000|7.996000	0.88334|0.88334	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATA|TAA		0.443	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			40	313	0	0	0	0	40	313				
ZNF658	26149	broad.mit.edu	37	9	40772638	40772638	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:40772638C>G	ENST00000602553.1	-	5	2931	c.2637G>C	c.(2635-2637)gaG>gaC	p.E879D	ZNF658_ENST00000377626.3_Missense_Mutation_p.E879D|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	879					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CATAGGGTTTCTCCCCTGTGT	0.443																																						uc004abs.2		NA																	0				ovary(1)	1						c.(2635-2637)GAG>GAC		zinc finger protein 658							1.0	1.0	1.0					9																	40772638		476	802	1278	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772638C>G	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2637G>C	9.37:g.40772638C>G	ENSP00000473484:p.Glu879Asp					ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.E879D	p.E879D	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2789	-			879					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2637G>C	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.640985	0.29157	.	.	ENSG00000196409	ENST00000377626	T	0.26810	1.71	1.87	-0.108	0.13588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21103	0.0508	L	0.47716	1.5	0.80722	D	1	P	0.40476	0.718	B	0.41135	0.348	T	0.05649	-1.0872	9	0.62326	D	0.03	.	5.7284	0.18026	0.0:0.6758:0.0:0.3242	.	879	Q5TYW1	ZN658_HUMAN	D	879	ENSP00000366853:E879D	ENSP00000366853:E879D	E	-	3	2	ZNF658	40762638	0.677000	0.27577	0.879000	0.34478	0.954000	0.61252	0.432000	0.21461	-0.016000	0.14127	0.518000	0.50308	GAG		0.443	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		12	226	0	0	0	0	12	226				
NTRK2	4915	broad.mit.edu	37	9	87325654	87325654	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:87325654G>A	ENST00000323115.4	+	5	884	c.531G>A	c.(529-531)ctG>ctA	p.L177L	NTRK2_ENST00000376214.1_Silent_p.L177L|NTRK2_ENST00000376213.1_Silent_p.L177L|NTRK2_ENST00000395866.2_Silent_p.L21L|NTRK2_ENST00000395882.1_Silent_p.L177L|NTRK2_ENST00000304053.6_Silent_p.L177L|NTRK2_ENST00000277120.3_Silent_p.L177L|NTRK2_ENST00000359847.3_Silent_p.L177L|NTRK2_ENST00000376208.1_Silent_p.L177L			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	177	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGTACTGCCTGAATGAAAGCA	0.403										TSP Lung(25;0.17)																												uc004aoa.1		NA																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(529-531)CTG>CTA		neurotrophic tyrosine kinase, receptor, type 2							136.0	124.0	128.0					9																	87325654		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87325654G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.531G>A	9.37:g.87325654G>A		TSP Lung(25;0.17)				NTRK2_uc004anv.1_Silent_p.L177L|NTRK2_uc004any.1_Silent_p.L177L|NTRK2_uc004anz.1_Silent_p.L177L|NTRK2_uc011lsz.1_Silent_p.L177L|NTRK2_uc011lta.1_Silent_p.L177L|NTRK2_uc004aob.1_Silent_p.L177L|NTRK2_uc011ltb.1_Silent_p.L21L	p.L177L	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			8	1469	+			177			Extracellular (Potential).|LRRCT.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.531G>A	CCDS35050.1																																																																																				0.403	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			5	124	0	0	0	0	5	124				
SPATA31E1	286234	broad.mit.edu	37	9	90500184	90500184	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:90500184C>T	ENST00000325643.5	+	4	848	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	261	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCACCCGACTCCAGCCTGGCT	0.607																																						uc004app.3		NA																	0				ovary(3)	3						c.(781-783)TCC>TTC		chromosome 9 open reading frame 79							64.0	68.0	67.0					9																	90500184		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90500184C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.782C>T	9.37:g.90500184C>T	ENSP00000322640:p.Ser261Phe					C9orf79_uc004apo.1_Missense_Mutation_p.S73F	p.S261F	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	817	+			261			Pro-rich.		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.782C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	11.04	1.520941	0.27211	.	.	ENSG00000177992	ENST00000325643	T	0.04454	3.62	1.8	-2.3	0.06785	.	.	.	.	.	T	0.04679	0.0127	L	0.55990	1.75	0.09310	N	1	P	0.41498	0.752	B	0.42422	0.387	T	0.34004	-0.9846	9	0.09843	T	0.71	.	3.7217	0.08459	0.2787:0.2974:0.4239:0.0	.	261	Q6ZUB1	CI079_HUMAN	F	261	ENSP00000322640:S261F	ENSP00000322640:S261F	S	+	2	0	C9orf79	89690004	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.975000	0.29449	-0.562000	0.06086	0.455000	0.32223	TCC		0.607	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		9	141	0	0	0	0	9	141				
ZNF169	169841	broad.mit.edu	37	9	97062673	97062673	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:97062673C>G	ENST00000395395.2	+	5	923	c.833C>G	c.(832-834)tCc>tGc	p.S278C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	278				SLS -> PSP (in Ref. 5; AAA70188). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCCTCCCTCTCCATACACCAG	0.542																																						uc004aum.1		NA																	0				ovary(2)	2						c.(832-834)TCC>TGC		zinc finger protein 169							72.0	76.0	75.0					9																	97062673		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062673C>G	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.833C>G	9.37:g.97062673C>G	ENSP00000378792:p.Ser278Cys						p.S278C	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	938	+		Acute lymphoblastic leukemia(62;0.136)	278	SLS -> PSP (in Ref. 5; AAA70188).		C2H2-type 2.		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.833C>G	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224413	0.22457	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.36340	1.26	2.73	0.431	0.16523	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26268	0.0641	L	0.56769	1.78	0.09310	N	1	P	0.41345	0.746	B	0.36244	0.22	T	0.29274	-1.0017	9	0.62326	D	0.03	.	0.5768	0.00705	0.2596:0.344:0.2132:0.1832	.	278	Q14929	ZN169_HUMAN	C	278;87	ENSP00000378792:S278C	ENSP00000340711:S87C	S	+	2	0	ZNF169	96102494	0.000000	0.05858	0.034000	0.17996	0.547000	0.35210	-1.809000	0.01731	0.093000	0.17368	-0.423000	0.05987	TCC		0.542	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		4	172	0	0	0	0	4	172				
SVEP1	79987	broad.mit.edu	37	9	113275356	113275356	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:113275356C>T	ENST00000401783.2	-	5	1489	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	SVEP1_ENST00000302728.8_Missense_Mutation_p.E385K|SVEP1_ENST00000374461.1_Missense_Mutation_p.E362K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E362K|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	385	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAACCATTTTCGGGAGGCTTC	0.403																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(1153-1155)GAA>AAA		polydom							94.0	87.0	89.0					9																	113275356		1878	4132	6010	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113275356C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1153G>A	9.37:g.113275356C>T	ENSP00000384917:p.Glu385Lys					SVEP1_uc010mua.1_Missense_Mutation_p.E385K|SVEP1_uc004beu.2_Missense_Mutation_p.E385K|SVEP1_uc004bev.2_Missense_Mutation_p.E129K	p.E385K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			5	1490	-			385			Sushi 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1153G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	36	5.758996	0.96898	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.79	5.79	0.91817	Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3);	0.048380	0.85682	D	0.000000	T	0.78704	0.4325	M	0.77313	2.365	0.51767	D	0.999936	D;D;D;D	0.69078	0.996;0.996;0.997;0.995	P;P;P;P	0.60117	0.869;0.869;0.807;0.668	T	0.79186	-0.1907	10	0.54805	T	0.06	.	20.0417	0.97594	0.0:1.0:0.0:0.0	.	385;385;385;385	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	K	385;362;385;362	ENSP00000384917:E385K;ENSP00000363593:E362K;ENSP00000304118:E385K;ENSP00000363585:E362K	ENSP00000304118:E385K	E	-	1	0	SVEP1	112315177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.736000	0.93811	0.655000	0.94253	GAA		0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	62	0	0	0	0	14	62				
PIP5KL1	138429	broad.mit.edu	37	9	130687445	130687445	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:130687445G>A	ENST00000388747.4	-	9	902	c.858C>T	c.(856-858)ttC>ttT	p.F286F	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Silent_p.F83F	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	286	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GGAGACGTTGGAAGGCTATCA	0.637																																						uc011mao.1		NA																	0				lung(1)|kidney(1)	2						c.(856-858)TTC>TTT		phosphatidylinositol-4-phosphate 5-kinase-like 1							100.0	98.0	99.0					9																	130687445		2203	4300	6503	SO:0001819	synonymous_variant	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130687445G>A	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.858C>T	9.37:g.130687445G>A						PIP5KL1_uc004bsu.2_Silent_p.F83F	p.F286F	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN			9	903	-			286			PIPK.		Q8IVS3	Silent	SNP	ENST00000388747.4	37	c.858C>T	CCDS48030.1																																																																																				0.637	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		10	181	0	0	0	0	10	181				
PIP5KL1	138429	broad.mit.edu	37	9	130687478	130687478	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:130687478G>C	ENST00000388747.4	-	9	869	c.825C>G	c.(823-825)ctC>ctG	p.L275L	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Silent_p.L72L	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	275	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCAGCACGTTGAGCTCCCGGA	0.637																																						uc011mao.1		NA																	0				lung(1)|kidney(1)	2						c.(823-825)CTC>CTG		phosphatidylinositol-4-phosphate 5-kinase-like 1							94.0	91.0	92.0					9																	130687478		2203	4300	6503	SO:0001819	synonymous_variant	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130687478G>C	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.825C>G	9.37:g.130687478G>C						PIP5KL1_uc004bsu.2_Silent_p.L72L	p.L275L	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN			9	870	-			275			PIPK.		Q8IVS3	Silent	SNP	ENST00000388747.4	37	c.825C>G	CCDS48030.1																																																																																				0.637	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		5	142	0	0	0	0	5	142				
PRDM12	59335	broad.mit.edu	37	9	133542052	133542052	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:133542052C>G	ENST00000253008.2	+	2	341	c.281C>G	c.(280-282)tCc>tGc	p.S94C		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	94	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCTCAGAGCTCCATCCCTGGC	0.672																																						uc004bzt.1		NA																	0					0						c.(280-282)TCC>TGC		PR domain containing 12							74.0	74.0	74.0					9																	133542052		2203	4300	6503	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133542052C>G	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.281C>G	9.37:g.133542052C>G	ENSP00000253008:p.Ser94Cys						p.S94C	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	2	341	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	94			SET.		A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.281C>G	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792130	0.90453	.	.	ENSG00000130711	ENST00000253008	T	0.73258	-0.73	5.16	5.16	0.70880	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.82323	2.585	0.80722	D	1	D	0.63880	0.993	D	0.65140	0.932	D	0.87048	0.2145	10	0.72032	D	0.01	-37.9657	17.6219	0.88084	0.0:1.0:0.0:0.0	.	94	Q9H4Q4	PRD12_HUMAN	C	94	ENSP00000253008:S94C	ENSP00000253008:S94C	S	+	2	0	PRDM12	132531873	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	7.263000	0.78421	2.412000	0.81896	0.491000	0.48974	TCC		0.672	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		6	197	0	0	0	0	6	197				
C9orf171	389799	broad.mit.edu	37	9	135357756	135357756	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:135357756G>A	ENST00000343036.2	+	2	303	c.255G>A	c.(253-255)caG>caA	p.Q85Q	C9orf171_ENST00000393215.3_Intron|C9orf171_ENST00000393216.2_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	85										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CAGCGGTGCAGAAAGTTATTC	0.493																																						uc004cbn.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(253-255)CAG>CAA		hypothetical protein LOC389799							94.0	88.0	90.0					9																	135357756		2203	4300	6503	SO:0001819	synonymous_variant	389799							g.chr9:135357756G>A	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.255G>A	9.37:g.135357756G>A						C9orf171_uc004cbo.2_Intron	p.Q85Q	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			2	303	+			85					Q147X1	Silent	SNP	ENST00000343036.2	37	c.255G>A	CCDS6949.1																																																																																				0.493	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		10	172	0	0	0	0	10	172				
ARSH	347527	broad.mit.edu	37	X	2947379	2947379	+	Missense_Mutation	SNP	C	C	G	rs145847839	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:2947379C>G	ENST00000381130.2	+	8	1291	c.1291C>G	c.(1291-1293)Ctg>Gtg	p.L431V		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	431					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGGGTCTATCTGCACACGGT	0.572																																						uc011mhj.1		NA																	0				lung(1)	1						c.(1291-1293)CTG>GTG		arylsulfatase family, member H							128.0	98.0	109.0					X																	2947379		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2947379C>G	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1291C>G	X.37:g.2947379C>G	ENSP00000370522:p.Leu431Val						p.L431V	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			8	1291	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	431						Missense_Mutation	SNP	ENST00000381130.2	37	c.1291C>G	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372268	0.24857	.	.	ENSG00000205667	ENST00000381130	D	0.94046	-3.34	3.5	2.4	0.29515	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000012	D	0.93158	0.7821	M	0.80508	2.5	0.36063	D	0.841563	P	0.49635	0.926	P	0.51866	0.682	D	0.92215	0.5779	10	0.45353	T	0.12	.	3.3604	0.07185	0.0:0.358:0.0:0.642	.	431	Q5FYA8	ARSH_HUMAN	V	431	ENSP00000370522:L431V	ENSP00000370522:L431V	L	+	1	2	ARSH	2957379	0.426000	0.25506	0.032000	0.17829	0.030000	0.12068	0.436000	0.21526	1.377000	0.46286	0.600000	0.82982	CTG		0.572	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		9	97	0	0	0	0	9	97				
S100G	795	broad.mit.edu	37	X	16669151	16669151	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:16669151G>A	ENST00000380200.3	+	2	76	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CTPS2_ENST00000380241.3_Intron|CTPS2_ENST00000443824.1_Intron|CTPS2_ENST00000359276.4_Intron	NM_004057.2	NP_004048.1	P29377	S100G_HUMAN	S100 calcium binding protein G	8						apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)			large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					AAAGTCTCCTGAGGAACTGAA	0.393																																						uc004cxn.1		NA																	0					0						c.(22-24)GAG>AAG		calbindin 3							92.0	95.0	94.0					X																	16669151		2203	4300	6503	SO:0001583	missense	795						calcium ion binding|vitamin D binding	g.chrX:16669151G>A		CCDS14176.1	Xp22.2	2014-01-28	2001-11-28	2004-10-07	ENSG00000169906	ENSG00000169906		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	1436	protein-coding gene	gene with protein product	"""calbindin-D9K"""	302020	"""calbindin 3, (vitamin D-dependent calcium-binding protein)"""	CALB3		1610358, 1379540	Standard	NM_004057		Approved	CABP9K, CABP1	uc004cxn.1	P29377	OTTHUMG00000021194	ENST00000380200.3:c.22G>A	X.37:g.16669151G>A	ENSP00000369547:p.Glu8Lys					CTPS2_uc004cxk.2_Intron|CTPS2_uc004cxl.2_Intron|CTPS2_uc004cxm.2_Intron	p.E8K	NM_004057	NP_004048	P29377	S100G_HUMAN			2	76	+	Hepatocellular(33;0.0997)		8					Q5JS49	Missense_Mutation	SNP	ENST00000380200.3	37	c.22G>A	CCDS14176.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103224	0.20632	.	.	ENSG00000169906	ENST00000380200	T	0.64085	-0.08	5.57	4.64	0.57946	EF-hand-like domain (1);	0.516845	0.18987	N	0.125719	T	0.44498	0.1296	.	.	.	0.09310	N	1	B	0.26708	0.157	B	0.28638	0.092	T	0.27739	-1.0065	9	0.16420	T	0.52	-0.3789	8.6302	0.33915	0.1193:0.0:0.8807:0.0	.	8	P29377	S100G_HUMAN	K	8	ENSP00000369547:E8K	ENSP00000369547:E8K	E	+	1	0	S100G	16579072	0.073000	0.21202	0.010000	0.14722	0.061000	0.15899	2.854000	0.48325	1.108000	0.41662	0.600000	0.82982	GAG		0.393	S100G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055910.1	NM_004057		5	103	0	0	0	0	5	103				
CPXCR1	53336	broad.mit.edu	37	X	88008677	88008677	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:88008677G>C	ENST00000276127.4	+	3	521	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E88Q	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	88							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCTAAAAGAAGAGCTTCTTCT	0.443																																						uc004efd.3		NA																	0				ovary(3)	3						c.(262-264)GAG>CAG		CPX chromosome region, candidate 1							40.0	36.0	38.0					X																	88008677		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008677G>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.262G>C	X.37:g.88008677G>C	ENSP00000276127:p.Glu88Gln					CPXCR1_uc004efc.3_Missense_Mutation_p.E88Q	p.E88Q	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	521	+			88					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.262G>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274978	0.40194	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.28255	1.62;1.62	3.33	-0.698	0.11280	.	1.039030	0.07719	N	0.943292	T	0.28764	0.0713	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.55749	0.783	T	0.15206	-1.0445	9	.	.	.	-0.2651	3.0286	0.06099	0.3587:0.0:0.4467:0.1946	.	88	Q8N123	CPXCR_HUMAN	Q	88	ENSP00000276127:E88Q;ENSP00000362203:E88Q	.	E	+	1	0	CPXCR1	87895333	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.530000	0.06179	-0.306000	0.08818	0.594000	0.82650	GAG		0.443	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		26	9	0	0	0	0	26	9				
MCF2	4168	broad.mit.edu	37	X	138698572	138698572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:138698572G>A	ENST00000370576.4	-	9	1269	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	MCF2_ENST00000370573.4_Nonsense_Mutation_p.Q354*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.Q499*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.Q315*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.Q354*|MCF2_ENST00000520602.1_Nonsense_Mutation_p.Q414*|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000414978.1_Nonsense_Mutation_p.Q414*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.Q414*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	354					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTTTAGACTGAAACTTATCT	0.338																																						uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(1060-1062)CAG>TAG		MCF.2 cell line derived transforming sequence							57.0	56.0	56.0					X																	138698572		2201	4296	6497	SO:0001587	stop_gained	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138698572G>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1060C>T	X.37:g.138698572G>A	ENSP00000359608:p.Gln354*					MCF2_uc004fav.2_Nonsense_Mutation_p.Q354*|MCF2_uc011mwl.1_Nonsense_Mutation_p.Q315*|MCF2_uc010nsh.1_Nonsense_Mutation_p.Q354*|MCF2_uc011mwm.1_Nonsense_Mutation_p.Q315*|MCF2_uc011mwn.1_Nonsense_Mutation_p.Q499*|MCF2_uc004faw.2_Nonsense_Mutation_p.Q414*|MCF2_uc011mwo.1_Nonsense_Mutation_p.Q414*	p.Q354*	NM_005369	NP_005360	P10911	MCF2_HUMAN			9	1354	-	Acute lymphoblastic leukemia(192;0.000127)		354					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Nonsense_Mutation	SNP	ENST00000370576.4	37	c.1060C>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	38	6.755560	0.97813	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.9369	0.89015	0.0:0.0:1.0:0.0	.	.	.	.	X	414;354;315;499;414;414;354;354	.	ENSP00000342204:Q354X	Q	-	1	0	MCF2	138526238	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.195000	0.94971	2.457000	0.83068	0.544000	0.68410	CAG		0.338	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		4	67	0	0	0	0	4	67				
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swo.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(133-135)AGCdel		proline/serine-rich coiled-coil 2				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_uc010sts.1_In_Frame_Del_p.S45del|ZFC3H1_uc001swp.2_In_Frame_Del_p.S45del|THAP2_uc001swq.2_5'Flank	p.S45del	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	492_494	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		7	481	NA	NA	NA	NA	7	481	---	---	---	---
RPS6KA5	9252	broad.mit.edu	37	14	91366509	91366509	+	Frame_Shift_Del	DEL	C	C	-	rs369503281		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:91366509delC	ENST00000261991.3	-	11	1495	c.1322delG	c.(1321-1323)cgafs	p.R441fs	RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.R362fs|RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.R441fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	441	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CACACACTTTCGACAAATTGA	0.333																																						uc001xys.2		NA																	0				ovary(1)	1						c.(1321-1323)CGAfs		ribosomal protein S6 kinase, polypeptide 5							89.0	93.0	92.0					14																	91366509		2203	4300	6503	SO:0001589	frameshift_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91366509delC	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1322delG	14.37:g.91366509delC	ENSP00000261991:p.Arg441fs					RPS6KA5_uc010twi.1_Frame_Shift_Del_p.R362fs|RPS6KA5_uc001xyt.2_Frame_Shift_Del_p.R441fs	p.R441fs	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	11	1537	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	441			Protein kinase 2.		O95316|Q96AF7	Frame_Shift_Del	DEL	ENST00000261991.3	37	c.1322delG	CCDS9893.1																																																																																				0.333	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		9	136	NA	NA	NA	NA	9	136	---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	686565	686566	+	5'Flank	INS	-	-	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:686565_686566insG	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Frame_Shift_Ins_p.MG186fs|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAAGGAATAATGGGTTAGTGAT	0.475																																						uc002frw.2		NA																	0				ovary(1)	1						c.(556-558)ATGfs		RNA methyltransferase like 1																																				SO:0001631	upstream_gene_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:686565_686566insG	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.686568_686568dupG	Exception_encountered					GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	p.M186fs	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	2	663_664	+			186					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Frame_Shift_Ins	INS	ENST00000301328.5	37	c.557_558insG																																																																																					0.475	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		9	41	NA	NA	NA	NA	9	41	---	---	---	---
SAT2	112483	broad.mit.edu	37	17	7529794	7529795	+	Frame_Shift_Ins	INS	-	-	TCCT			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:7529794_7529795insTCCT	ENST00000269298.5	-	6	702_703	c.483_484insAGGA	c.(481-486)ggagagfs	p.E162fs	SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000573566.1_Frame_Shift_Ins_p.E128fs|SHBG_ENST00000570547.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000576728.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	162	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	CTCGTTGCCTCTCCTTGAAAGC	0.545																																						uc002gic.2		NA																	1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)		0						c.(481-486)GGAGAGfs		diamine N-acetyltransferase 2	Spermine(DB00127)																																			SO:0001589	frameshift_variant	112483					cytoplasm	diamine N-acetyltransferase activity	g.chr17:7529794_7529795insTCCT	AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.480_483dupAGGA	17.37:g.7529795_7529798dupTCCT	ENSP00000269298:p.Glu162fs					SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SHBG_uc010cmu.2_Intron|SAT2_uc002gib.1_RNA|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank	p.G161fs	NM_133491	NP_597998	Q96F10	SAT2_HUMAN		READ - Rectum adenocarcinoma(115;0.166)	6	724_725	-			161_162			N-acetyltransferase.			Frame_Shift_Ins	INS	ENST00000269298.5	37	c.483_484insAGGA	CCDS11116.1																																																																																				0.545	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491		16	288	NA	NA	NA	NA	16	288	---	---	---	---
CNKSR3	154043	broad.mit.edu	37	6	154831247	154831248	+	Start_Codon_Ins	INS	-	-	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:154831247_154831248insG	ENST00000607772.1	-	0	545_546					NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3						negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CACGGGTTCCATGGTAAACCGC	0.683																																						uc003qpy.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1-3)ATGfs		CNKSR family member 3																																				SO:0001582	initiator_codon_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154831247_154831248insG	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1_2insC	6.37:g.154831247_154831248insG							p.M1fs	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	1	506_507	-		Ovarian(120;0.196)	1					Q5SGD5|Q96N65	Frame_Shift_Ins	INS	ENST00000607772.1	37	c.1_2insC	CCDS5246.1																																																																																				0.683	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		81	241	NA	NA	NA	NA	81	241	---	---	---	---
