#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
SAMD11	148398	broad.mit.edu	37	1	878746	878746	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:878746G>C	ENST00000342066.3	+	12	1761	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	560	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGGCTGTGGAGAGTACACTCG	0.657																																						uc001abw.1		NaN																	0					0						c.(1678-1680)GAG>CAG		sterile alpha motif domain containing 11							21.0	26.0	25.0					1																	878746		2203	4295	6498	SO:0001583	missense	148398					nucleus		g.chr1:878746G>C	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1678G>C	1.37:g.878746G>C	ENSP00000342313:p.Glu560Gln					SAMD11_uc001abx.1_Missense_Mutation_p.E423Q	p.E560Q	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	12	1758	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	560			SAM.		A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.1678G>C	CCDS2.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.73|16.73	3.203085|3.203085	0.58234|0.58234	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000341065;ENST00000455979|ENST00000342066	.|D	.|0.84298	.|-1.83	5.43|5.43	4.51|4.51	0.55191|0.55191	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.058714|0.058714	0.64402|0.64402	D|N	0.000003|0.000003	D|D	0.88662|0.88662	0.6497|0.6497	L|L	0.46819|0.46819	1.47|1.47	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P	.|0.67145	.|0.996;0.79	.|D;P	.|0.62955	.|0.909;0.568	D|D	0.89484|0.89484	0.3752|0.3752	6|10	.|0.66056	.|D	.|0.02	-18.9764|-18.9764	14.9193|14.9193	0.70822|0.70822	0.0:0.1444:0.8556:0.0|0.0:0.1444:0.8556:0.0	.|.	.|544;560	.|Q96NU1-1;Q96NU1	.|.;SAM11_HUMAN	D|Q	467;386|560	.|ENSP00000342313:E560Q	.|ENSP00000342313:E560Q	E|E	+|+	3|1	2|0	SAMD11|SAMD11	868609|868609	1.000000|1.000000	0.71417|0.71417	0.822000|0.822000	0.32727|0.32727	0.266000|0.266000	0.26442|0.26442	8.894000|8.894000	0.92506|0.92506	1.276000|1.276000	0.44395|0.44395	0.555000|0.555000	0.69702|0.69702	GAG|GAG		0.657	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2		NM_152486		11	37	0	0	0	0.013537	0	11	37		
AGRN	375790	broad.mit.edu	37	1	970701	970701	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:970701G>A	ENST00000379370.2	+	3	558	c.508G>A	c.(508-510)Gat>Aat	p.D170N	AGRN_ENST00000477585.1_3'UTR	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	170					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GACGCCTCCTGATGGTGAGTA	0.597																																						uc001ack.1		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(508-510)GAT>AAT		agrin precursor							113.0	121.0	118.0					1																	970701		2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:970701G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.508G>A	1.37:g.970701G>A	ENSP00000368678:p.Asp170Asn						p.D170N	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	3	558	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	170					Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.508G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202095	0.38905	.	.	ENSG00000188157	ENST00000379370	T	0.76448	-1.02	4.08	4.08	0.47627	.	0.337088	0.20456	U	0.091984	T	0.65729	0.2719	L	0.29908	0.895	0.39668	D	0.970718	B	0.24721	0.11	B	0.22386	0.039	T	0.62282	-0.6887	10	0.19590	T	0.45	-0.678	13.8372	0.63417	0.0:0.0:1.0:0.0	.	170	O00468	AGRIN_HUMAN	N	170	ENSP00000368678:D170N	ENSP00000368678:D170N	D	+	1	0	AGRN	960564	0.605000	0.26941	0.998000	0.56505	0.097000	0.18754	2.828000	0.48120	2.001000	0.58596	0.479000	0.44913	GAT		0.597	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576		22	113	0	0	0	0.003954	0	22	113		
CCDC27	148870	broad.mit.edu	37	1	3672032	3672032	+	Missense_Mutation	SNP	G	G	A	rs139820400		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:3672032G>A	ENST00000294600.2	+	3	538	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	152										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCACCCACTGAGGCCGATTT	0.552																																						uc001akv.2		NaN																	0				skin(1)	1						c.(454-456)GAG>AAG		coiled-coil domain containing 27							211.0	223.0	219.0					1																	3672032		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3672032G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.454G>A	1.37:g.3672032G>A	ENSP00000294600:p.Glu152Lys						p.E152K	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	3	535	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	152					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.454G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755899	0.15846	.	.	ENSG00000162592	ENST00000294600	T	0.17370	2.28	3.37	-6.74	0.01743	.	13.978400	0.00541	N	0.000231	T	0.07369	0.0186	N	0.14661	0.345	0.09310	N	1	B	0.30406	0.278	B	0.22880	0.042	T	0.11767	-1.0574	10	0.41790	T	0.15	-0.4349	1.2161	0.01914	0.4178:0.2474:0.1994:0.1354	.	152	Q2M243	CCD27_HUMAN	K	152	ENSP00000294600:E152K	ENSP00000294600:E152K	E	+	1	0	CCDC27	3661892	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.725000	0.04942	-1.697000	0.01420	-0.304000	0.09214	GAG		0.552	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1		NM_152492		121	235	0	0	0	0.01441	0	121	235		
CHD5	26038	broad.mit.edu	37	1	6181225	6181225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:6181225G>A	ENST00000262450.3	-	33	4951	c.4852C>T	c.(4852-4854)Cga>Tga	p.R1618*	CHD5_ENST00000378021.1_Nonsense_Mutation_p.R475*	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGCTCCTCTCGGGCTCTCTCC	0.647																																						uc001amb.1		NaN																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(4852-4854)CGA>TGA		chromodomain helicase DNA binding protein 5							45.0	50.0	48.0					1																	6181225		2203	4300	6503	SO:0001587	stop_gained	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6181225G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4852C>T	1.37:g.6181225G>A	ENSP00000262450:p.Arg1618*					CHD5_uc001alz.1_Nonsense_Mutation_p.R475*|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	p.R1618*	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	33	4952	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1618					A8KAP8|A8MQ44|D3DSH9|O60740	Nonsense_Mutation	SNP	ENST00000262450.3	37	c.4852C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	58	31.883665	0.99979	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	.	.	.	4.53	2.47	0.30058	.	1.117340	0.06975	U	0.818782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.4084	2.7937	0.05394	0.1036:0.166:0.5328:0.1976	.	.	.	.	X	1618;1134;475;1026;1026;475	.	ENSP00000262450:R1618X	R	-	1	2	CHD5	6103812	0.843000	0.29541	0.997000	0.53966	0.981000	0.71138	0.544000	0.23253	1.023000	0.39654	0.472000	0.43445	CGA		0.647	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557		7	16	0	0	0	0.001984	0	7	16		
ICMT	23463	broad.mit.edu	37	1	6291999	6291999	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:6291999G>A	ENST00000343813.5	-	4	663	c.635C>T	c.(634-636)tCt>tTt	p.S212F		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	212					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCGACGTAAGAAGGATGCCG	0.373																																						uc001amk.2		NaN																	0					0						c.(634-636)TCT>TTT		isoprenylcysteine carboxyl methyltransferase							125.0	114.0	118.0					1																	6291999		2202	4300	6502	SO:0001583	missense	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6291999G>A	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.635C>T	1.37:g.6291999G>A	ENSP00000343552:p.Ser212Phe					ICMT_uc001aml.2_Missense_Mutation_p.S116F	p.S212F	NM_012405	NP_036537	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	4	708	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	212					Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	c.635C>T	CCDS61.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035669	0.93630	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	H	0.96460	3.825	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	D	0.91639	0.5325	9	0.62326	D	0.03	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	212	O60725	ICMT_HUMAN	F	212;116	.	ENSP00000343552:S212F	S	-	2	0	ICMT	6214586	1.000000	0.71417	0.926000	0.36857	0.992000	0.81027	9.238000	0.95380	2.884000	0.98904	0.655000	0.94253	TCT		0.373	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1		NM_012405		22	47	0	0	0	0.004656	0	22	47		
KIF1B	23095	broad.mit.edu	37	1	10335485	10335485	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:10335485G>C	ENST00000377086.1	+	11	1084		c.e11-1		KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCTTTAATAGAGTAAAAAGA	0.323																																						uc001aqx.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.e11-1		kinesin family member 1B isoform b							59.0	64.0	62.0					1																	10335485		2203	4299	6502	SO:0001630	splice_region_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10335485G>C	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.883-1G>C	1.37:g.10335485G>C						KIF1B_uc001aqv.3_Splice_Site_p.S289_splice|KIF1B_uc001aqw.3_Splice_Site_p.S289_splice|KIF1B_uc001aqy.2_Splice_Site_p.S295_splice|KIF1B_uc001aqz.2_Splice_Site_p.S295_splice|KIF1B_uc001ara.2_Splice_Site_p.S295_splice|KIF1B_uc001arb.2_Splice_Site_p.S295_splice	p.S295_splice	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	11	1085	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Splice_Site	SNP	ENST00000377086.1	37	c.883_splice		.	.	.	.	.	.	.	.	.	.	G	26.2	4.719388	0.89205	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF1B	10258072	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.291000	0.96070	2.768000	0.95171	0.655000	0.94253	.		0.323	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			Intron	11	66	0	0	0	0.008291	0	11	66		
Unknown	0	broad.mit.edu	37	1	13183488	13183488	+	IGR	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:13183488G>C								RP13-221M14.3 (19020 upstream) : PRAMEF26 (32867 downstream)																							GGAGGTACACGTGCTGGGAAA	0.512																																						uc010obg.1		NaN																	0					0						c.(385-387)CGT>GGT		heterogeneous nuclear ribonucleoprotein C-like							93.0	74.0	80.0					1																	13183488		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183488G>C																													1.37:g.13183488G>C							p.R129G	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	480	-			129						Missense_Mutation	SNP		37	c.385C>G																																																																																				0	0.512										58	291	0	0	0	0.01441	0	58	291		
PADI4	23569	broad.mit.edu	37	1	17681136	17681136	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:17681136G>A	ENST00000375448.4	+	11	1290	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	422					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CAGGGGCAAGGAATACCCGCT	0.572																																						uc001baj.2		NaN																	0				ovary(1)|skin(1)	2						c.(1264-1266)GAA>AAA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						43.0	48.0	46.0					1																	17681136		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17681136G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1264G>A	1.37:g.17681136G>A	ENSP00000364597:p.Glu422Lys						p.E422K	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	11	1292	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	422					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.1264G>A	CCDS180.1	.	.	.	.	.	.	.	.	.	.	G	9.899	1.206247	0.22205	.	.	ENSG00000159339	ENST00000375448	T	0.32515	1.45	5.6	-2.92	0.05615	Protein-arginine deiminase, C-terminal (1);	0.765312	0.12766	N	0.440961	T	0.21387	0.0515	L	0.48986	1.54	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.27157	-1.0082	10	0.23302	T	0.38	-1.4023	6.301	0.21113	0.3799:0.2162:0.4039:0.0	.	422	Q9UM07	PADI4_HUMAN	K	422	ENSP00000364597:E422K	ENSP00000364597:E422K	E	+	1	0	PADI4	17553723	0.581000	0.26741	0.001000	0.08648	0.223000	0.24884	0.532000	0.23067	-0.549000	0.06191	0.561000	0.74099	GAA		0.572	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1		NM_012387		20	18	0	0	0	0.010504	0	20	18		
PLA2G2E	30814	broad.mit.edu	37	1	20249137	20249137	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:20249137G>C	ENST00000375116.3	-	2	209	c.152C>G	c.(151-153)tCc>tGc	p.S51C		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	51					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	CGGCCAGTGGGAGCCACCGAT	0.612																																						uc001bct.1		NaN																	0					0						c.(151-153)TCC>TGC		phospholipase A2, group IIE precursor							75.0	77.0	76.0					1																	20249137		2203	4300	6503	SO:0001583	missense	30814				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20249137G>C	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.152C>G	1.37:g.20249137G>C	ENSP00000364257:p.Ser51Cys						p.S51C	NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	210	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	51					Q5VXJ8	Missense_Mutation	SNP	ENST00000375116.3	37	c.152C>G	CCDS200.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009642	0.54361	.	.	ENSG00000188784	ENST00000375116	T	0.29917	1.55	5.97	5.04	0.67666	Phospholipase A2 (3);	0.000000	0.64402	D	0.000002	T	0.55417	0.1919	M	0.88105	2.93	0.42390	D	0.99252	P	0.49253	0.921	P	0.55667	0.781	T	0.65331	-0.6194	10	0.87932	D	0	-20.504	13.0899	0.59162	0.0:0.1608:0.8392:0.0	.	51	Q9NZK7	PA2GE_HUMAN	C	51	ENSP00000364257:S51C	ENSP00000364257:S51C	S	-	2	0	PLA2G2E	20121724	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	5.195000	0.65131	1.488000	0.48433	0.655000	0.94253	TCC		0.612	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1		NM_014589		13	80	0	0	0	0.013537	0	13	80		
HSPG2	3339	broad.mit.edu	37	1	22178416	22178416	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:22178416G>A	ENST00000374695.3	-	54	6953	c.6874C>T	c.(6874-6876)Cgt>Tgt	p.R2292C	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2292	Ig-like C2-type 8.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGGAGCCACGAACCTGGGCA	0.672																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(6874-6876)CGT>TGT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						10.0	10.0	10.0					1																	22178416		2187	4263	6450	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22178416G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6874C>T	1.37:g.22178416G>A	ENSP00000363827:p.Arg2292Cys					HSPG2_uc009vqd.2_Missense_Mutation_p.R2293C	p.R2292C	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	54	6914	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2292			Ig-like C2-type 8.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.6874C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814163	0.70912	.	.	ENSG00000142798	ENST00000374695	T	0.68479	-0.33	5.65	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39210	N	0.001433	T	0.78496	0.4292	M	0.78049	2.395	0.43069	D	0.994703	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	T	0.79386	-0.1825	10	0.56958	D	0.05	.	7.6732	0.28470	0.1737:0.0:0.8263:0.0	.	232;2292	Q59EG0;P98160	.;PGBM_HUMAN	C	2292	ENSP00000363827:R2292C	ENSP00000363827:R2292C	R	-	1	0	HSPG2	22051003	0.468000	0.25839	0.991000	0.47740	0.604000	0.37047	3.070000	0.50033	2.667000	0.90743	0.561000	0.74099	CGT		0.672	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		7	14	0	0	0	0.001984	0	7	14		
PTAFR	5724	broad.mit.edu	37	1	28477482	28477482	+	Silent	SNP	G	G	T	rs143590918		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:28477482G>T	ENST00000373857.3	-	2	685	c.51C>A	c.(49-51)ctC>ctA	p.L17L	PTAFR_ENST00000305392.3_Silent_p.L17L|PTAFR_ENST00000539896.1_Silent_p.L17L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	17					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCGGGAAGAGAGTGTATC	0.527																																						uc001bpl.2		NaN																	0					0						c.(49-51)CTC>CTA		platelet-activating factor receptor							81.0	72.0	75.0					1																	28477482		2203	4300	6503	SO:0001819	synonymous_variant	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477482G>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.51C>A	1.37:g.28477482G>T						PTAFR_uc001bpm.3_Silent_p.L17L|PTAFR_uc009vte.2_Silent_p.L17L	p.L17L	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	178	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	17			Helical; Name=1; (Potential).		A3KMC8|A8K2H5	Silent	SNP	ENST00000373857.3	37	c.51C>A	CCDS318.1																																																																																				0.527	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1		NM_000952		8	49	1	0	0.000673444	0.008291	0.0006841	8	49		
DLGAP3	58512	broad.mit.edu	37	1	35331860	35331860	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:35331860G>A	ENST00000373347.1	-	12	3032	c.2764C>T	c.(2764-2766)Cgg>Tgg	p.R922W	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R922W			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	922					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCCCGGCCCCGCAGGGGCTTC	0.716											OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001byc.2		NaN																	0				ovary(3)	3						c.(2764-2766)CGG>TGG		discs, large (Drosophila) homolog-associated							4.0	6.0	5.0					1																	35331860		2018	4051	6069	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35331860G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2764C>T	1.37:g.35331860G>A	ENSP00000362444:p.Arg922Trp		OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	854		p.R922W	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			10	2764	-		Myeloproliferative disorder(586;0.0393)	922					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2764C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983390	0.93044	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.20463	2.07;2.07	5.24	5.24	0.73138	.	0.367311	0.31392	N	0.007731	T	0.51278	0.1665	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.57230	-0.7847	10	0.87932	D	0	-14.8412	18.8259	0.92119	0.0:0.0:1.0:0.0	.	922	O95886	DLGP3_HUMAN	W	922	ENSP00000362444:R922W;ENSP00000235180:R922W	ENSP00000235180:R922W	R	-	1	2	DLGAP3	35104447	1.000000	0.71417	0.982000	0.44146	0.926000	0.56050	5.284000	0.65627	2.422000	0.82143	0.563000	0.77884	CGG		0.716	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1		NM_021234		4	11	0	0	0	0.009096	0	4	11		
TFAP2E	339488	broad.mit.edu	37	1	36056363	36056363	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:36056363C>A	ENST00000373235.3	+	6	1241	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAAGAGCATGCTGCTGGCTGC	0.612																																						uc010ohy.1		NaN																	0					0						c.(1033-1035)CTG>ATG		transcription factor AP-2 epsilon (activating							29.0	22.0	25.0					1																	36056363		2200	4298	6498	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36056363C>A	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.1033C>A	1.37:g.36056363C>A	ENSP00000362332:p.Leu345Met					PSMB2_uc001bzd.1_Intron	p.L345M	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN			6	1241	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	345			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000373235.3	37	c.1033C>A	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206275	0.79127	.	.	ENSG00000116819	ENST00000373235	D	0.97598	-4.45	5.65	4.73	0.59995	Transcription factor AP-2, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.98381	0.9462	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98431	1.0582	10	0.87932	D	0	-11.426	11.2303	0.48907	0.0:0.8588:0.0:0.1412	.	345	Q6VUC0	AP2E_HUMAN	M	345	ENSP00000362332:L345M	ENSP00000362332:L345M	L	+	1	2	TFAP2E	35828950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.961000	0.63681	2.688000	0.91661	0.555000	0.69702	CTG		0.612	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1		NM_178548		3	18	1	0	0.00024832	0.009096	0.000253452	3	18		
MACF1	23499	broad.mit.edu	37	1	39893741	39893741	+	Intron	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:39893741G>A	ENST00000372915.3	+	61	16578				MACF1_ENST00000564288.1_Missense_Mutation_p.E5529K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Missense_Mutation_p.E3467K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3467K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3969K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3467K|MACF1_ENST00000567887.1_Missense_Mutation_p.E5566K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGCTGTCAGAAAAGATAGA	0.498																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(11905-11907)GAA>AAA		microfilament and actin filament cross-linker							104.0	94.0	98.0					1																	39893741		2203	4300	6503	SO:0001627	intron_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39893741G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16491+455G>A	1.37:g.39893741G>A						MACF1_uc010ois.1_Missense_Mutation_p.E3467K|MACF1_uc001cda.1_Missense_Mutation_p.E3354K|MACF1_uc001cdc.1_Intron	p.E3969K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		27	12036	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5534			Spectrin 8.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.11905G>A		.	.	.	.	.	.	.	.	.	.	G	19.05	3.751933	0.69533	.	.	ENSG00000127603	ENST00000545844;ENST00000361689;ENST00000317713;ENST00000289893;ENST00000482035	T;T;T;T;T	0.54866	1.26;1.26;1.26;1.26;0.55	5.84	5.84	0.93424	.	0.105375	0.41294	D	0.000915	T	0.55940	0.1952	L	0.50333	1.59	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.51135	0.66;0.66	T	0.46735	-0.9170	10	0.18710	T	0.47	.	15.6032	0.76642	0.0:0.137:0.863:0.0	.	3467;3411	F8W8Q1;Q9UPN3-3	.;.	K	3467;3467;3467;3969;283	ENSP00000439537:E3467K;ENSP00000354573:E3467K;ENSP00000313438:E3467K;ENSP00000289893:E3969K;ENSP00000433104:E283K	ENSP00000289893:E3969K	E	+	1	0	MACF1	39666328	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.688000	0.61715	2.765000	0.95021	0.557000	0.71058	GAA		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		5	66	0	0	0	0.000602	0	5	66		
HIVEP3	59269	broad.mit.edu	37	1	42049173	42049173	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:42049173C>T	ENST00000372583.1	-	4	2181	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L	HIVEP3_ENST00000429157.2_Silent_p.L432L|HIVEP3_ENST00000372584.1_Silent_p.L432L|HIVEP3_ENST00000247584.5_Silent_p.L432L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	432	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGTGGCTGTCAGCATGGCGG	0.617																																						uc001cgz.3		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1294-1296)CTG>CTA		human immunodeficiency virus type I enhancer							76.0	67.0	70.0					1																	42049173		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049173C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1296G>A	1.37:g.42049173C>T						HIVEP3_uc001cha.3_Silent_p.L432L|HIVEP3_uc001cgy.2_RNA	p.L432L	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	2509	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	432			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.1296G>A	CCDS463.1																																																																																				0.617	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1		NM_024503		15	33	0	0	0	0.003163	0	15	33		
MPL	4352	broad.mit.edu	37	1	43805111	43805111	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:43805111G>A	ENST00000372470.3	+	4	603	c.561G>A	c.(559-561)ctG>ctA	p.L187L	MPL_ENST00000413998.2_Silent_p.L187L	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	187	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TCATACAGCTGATTGCCACAG	0.577			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2		NaN	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(559-561)CTG>CTA		myeloproliferative leukemia virus oncogene							91.0	86.0	88.0					1																	43805111		2203	4300	6503	SO:0001819	synonymous_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43805111G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.561G>A	1.37:g.43805111G>A						MPL_uc001civ.2_Silent_p.L187L|MPL_uc009vwr.2_Silent_p.L180L	p.L187L	NM_005373	NP_005364	P40238	TPOR_HUMAN			4	606	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	187			Extracellular (Potential).|Fibronectin type-III 1.		Q5JUZ0	Silent	SNP	ENST00000372470.3	37	c.561G>A	CCDS483.1																																																																																				0.577	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1		NM_005373		41	75	0	0	0	0.007835	0	41	75		
IPP	3652	broad.mit.edu	37	1	46182672	46182672	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:46182672C>T	ENST00000396478.3	-	7	1306	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	402						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTCCCTATCTCAGCTCCAACC	0.373																																						uc001cou.2		NaN																	0				ovary(1)	1						c.(1204-1206)GAG>AAG		intracisternal A particle-promoted polypeptide							121.0	110.0	114.0					1																	46182672		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46182672C>T	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1204G>A	1.37:g.46182672C>T	ENSP00000379739:p.Glu402Lys					IPP_uc001cos.3_Missense_Mutation_p.E402K	p.E402K	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			7	1471	-	Acute lymphoblastic leukemia(166;0.155)		402			Kelch 3.		A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.1204G>A	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376033	0.95923	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.77489	-1.1;-1.1	5.48	5.48	0.80851	Galactose oxidase, beta-propeller (1);	0.098210	0.64402	D	0.000002	D	0.85617	0.5738	L	0.46947	1.48	0.80722	D	1	P;D	0.89917	0.941;1.0	P;D	0.97110	0.811;1.0	D	0.86430	0.1760	10	0.72032	D	0.01	.	19.3509	0.94384	0.0:1.0:0.0:0.0	.	402;402	Q9Y573;A2A6V3	IPP_HUMAN;.	K	402	ENSP00000353024:E402K;ENSP00000379739:E402K	ENSP00000353024:E402K	E	-	1	0	IPP	45955259	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.251000	0.78297	2.577000	0.86979	0.462000	0.41574	GAG		0.373	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3		NM_005897		11	98	0	0	0	0.010729	0	11	98		
CYP4A11	1579	broad.mit.edu	37	1	47406995	47406995	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:47406995G>A	ENST00000310638.4	-	1	142	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.L37L|CYP4A11_ENST00000371904.4_Silent_p.L37L|CYP4A11_ENST00000462347.1_Silent_p.L37L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	37					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGTGCAGGTAGAGCTGAACTG	0.602																																						uc001cqp.3		NaN																	0				ovary(2)|skin(2)	4						c.(109-111)CTC>CTT		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						96.0	88.0	91.0					1																	47406995		2203	4300	6503	SO:0001819	synonymous_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47406995G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.111C>T	1.37:g.47406995G>A						CYP4A11_uc001cqq.2_Silent_p.L37L|CYP4A11_uc010omm.1_RNA	p.L37L	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			1	162	-			37					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	c.111C>T	CCDS543.1																																																																																				0.602	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1		NM_000778		7	130	0	0	0	0.001984	0	7	130		
FOXD2	2306	broad.mit.edu	37	1	47904552	47904552	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:47904552G>A	ENST00000334793.5	+	1	2864	c.745G>A	c.(745-747)Gcg>Acg	p.A249T		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	249	Ala-rich.|Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		cggggccgcggcggcgggggA	0.771																																						uc001crm.2		NaN																	0					0						c.(745-747)GCG>ACG		forkhead box D2							4.0	5.0	5.0					1																	47904552		1477	3159	4636	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904552G>A	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.745G>A	1.37:g.47904552G>A	ENSP00000335493:p.Ala249Thr						p.A249T	NM_004474	NP_004465	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2864	+			249			Ala-rich.|Pro-rich.		Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.745G>A	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627762	0.28978	.	.	ENSG00000186564	ENST00000334793	D	0.93859	-3.3	3.63	2.7	0.31948	.	.	.	.	.	D	0.86636	0.5980	N	0.22421	0.69	0.23537	N	0.997466	P	0.51057	0.941	B	0.43889	0.435	T	0.76323	-0.3001	9	0.12430	T	0.62	.	9.5915	0.39548	0.0:0.2156:0.7844:0.0	.	249	O60548	FOXD2_HUMAN	T	249	ENSP00000335493:A249T	ENSP00000335493:A249T	A	+	1	0	FOXD2	47677139	0.941000	0.31946	0.711000	0.30485	0.194000	0.23727	1.890000	0.39728	0.792000	0.33850	-0.304000	0.09214	GCG		0.771	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1		NM_004474		11	5	0	0	0	0.008291	0	11	5		
LRP8	7804	broad.mit.edu	37	1	53755276	53755276	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:53755276C>T	ENST00000306052.6	-	3	431	c.330G>A	c.(328-330)gaG>gaA	p.E110E	LRP8_ENST00000371454.2_Silent_p.E110E|RP4-784A16.2_ENST00000421637.1_RNA|RP4-784A16.3_ENST00000450469.1_RNA|LRP8_ENST00000347547.2_Silent_p.E110E|LRP8_ENST00000354412.3_Silent_p.E110E|LRP8_ENST00000465675.1_De_novo_Start_OutOfFrame	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	110	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CATCAGGACACTCCTCCTCGC	0.592																																						uc001cvi.1		NaN																	0					0						c.(328-330)GAG>GAA		low density lipoprotein receptor-related protein							116.0	83.0	95.0					1																	53755276		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53755276C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.330G>A	1.37:g.53755276C>T						LRP8_uc001cvh.1_Translation_Start_Site|LRP8_uc001cvk.1_Silent_p.E110E|LRP8_uc001cvj.1_Silent_p.E110E|LRP8_uc001cvl.1_Silent_p.E110E	p.E110E	NM_004631	NP_004622	Q14114	LRP8_HUMAN			3	472	-			110			LDL-receptor class A 2.|Extracellular (Potential).		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.330G>A	CCDS578.1																																																																																				0.592	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1		NM_004631		5	14	0	0	0	0.000602	0	5	14		
CDCP2	200008	broad.mit.edu	37	1	54606823	54606823	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:54606823G>C	ENST00000371330.1	-	3	1558	c.711C>G	c.(709-711)ttC>ttG	p.F237L	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	237	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AGTCGGACTTGAAGACCACCT	0.647																																						uc001cwv.1		NaN																	0				ovary(1)	1						c.(709-711)TTC>TTG		CUB domain containing protein 2 precursor							40.0	38.0	39.0					1																	54606823		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54606823G>C		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.711C>G	1.37:g.54606823G>C	ENSP00000360381:p.Phe237Leu						p.F237L	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			3	1559	-			237			CUB 2.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.711C>G	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564945	0.86439	.	.	ENSG00000157211	ENST00000371330	T	0.33654	1.4	5.57	4.66	0.58398	CUB (5);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.76328	2.33	0.58432	D	0.999993	D	0.76494	0.999	D	0.80764	0.994	T	0.63791	-0.6557	10	0.59425	D	0.04	-34.0106	14.2078	0.65746	0.0716:0.0:0.9284:0.0	.	237	Q5VXM1	CDCP2_HUMAN	L	237	ENSP00000360381:F237L	ENSP00000360381:F237L	F	-	3	2	CDCP2	54379411	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.152000	0.58111	1.356000	0.45884	0.561000	0.74099	TTC		0.647	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2		NM_201546		8	48	0	0	0	0.004482	0	8	48		
DAB1	1600	broad.mit.edu	37	1	57489208	57489208	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:57489208G>A	ENST00000371231.1	-	12	1024	c.990C>T	c.(988-990)ccC>ccT	p.P330P	DAB1_ENST00000371234.4_Silent_p.P297P|DAB1_ENST00000420954.2_Silent_p.P295P|DAB1_ENST00000414851.2_Silent_p.P279P|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Silent_p.P297P|DAB1_ENST00000439789.2_Silent_p.P211P			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	330					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTACCTGAGGGTACAGCAG	0.493																																						uc001cys.1		NaN																	0				skin(2)|ovary(1)	3						c.(889-891)CCC>CCT		disabled homolog 1							113.0	97.0	103.0					1																	57489208		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57489208G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.990C>T	1.37:g.57489208G>A						DAB1_uc001cyt.1_Silent_p.P295P|DAB1_uc001cyq.1_Silent_p.P295P|DAB1_uc001cyr.1_Silent_p.P211P|DAB1_uc009vzw.1_Silent_p.P279P|DAB1_uc009vzx.1_Silent_p.P297P	p.P297P	NM_021080	NP_066566	O75553	DAB1_HUMAN			13	1565	-			330					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.891C>T																																																																																					0.493	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1		NM_021080		7	11	0	0	0	0.001984	0	7	11		
C1orf87	127795	broad.mit.edu	37	1	60505607	60505607	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:60505607C>A	ENST00000371201.3	-	5	836	c.729G>T	c.(727-729)aaG>aaT	p.K243N	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	243							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACCCCTCTTAGAAAATC	0.408																																					NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1		NaN																	0				ovary(1)|breast(1)	2						c.(727-729)AAG>AAT		hypothetical protein LOC127795							83.0	94.0	90.0					1																	60505607		2202	4298	6500	SO:0001583	missense	127795						calcium ion binding	g.chr1:60505607C>A	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.729G>T	1.37:g.60505607C>A	ENSP00000360244:p.Lys243Asn						p.K243N	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			5	821	-			243					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.729G>T	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	4.954	0.177200	0.09443	.	.	ENSG00000162598	ENST00000371201	T	0.46063	0.88	5.18	-1.05	0.10036	EF-hand-like domain (1);	0.616422	0.15542	N	0.256878	T	0.22360	0.0539	N	0.22421	0.69	0.09310	N	1	B	0.17268	0.021	B	0.13407	0.009	T	0.13255	-1.0516	10	0.28530	T	0.3	-0.0047	5.1932	0.15220	0.1466:0.3368:0.0:0.5166	.	243	Q8N0U7	CA087_HUMAN	N	243	ENSP00000360244:K243N	ENSP00000360244:K243N	K	-	3	2	C1orf87	60278195	0.000000	0.05858	0.000000	0.03702	0.975000	0.68041	-0.345000	0.07770	-0.364000	0.08088	-0.142000	0.14014	AAG		0.408	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1		NM_152377		21	122	1	0	4.35082e-09	0.010504	4.58658e-09	21	122		
INADL	10207	broad.mit.edu	37	1	62237176	62237176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:62237176C>T	ENST00000371158.2	+	6	712	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Q200*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	200	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTTCCCATCAGCAAGCAAT	0.373																																						uc001dab.2		NaN																	0				ovary(3)|skin(1)	4						c.(598-600)CAG>TAG		InaD-like							138.0	126.0	130.0					1																	62237176		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62237176C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.598C>T	1.37:g.62237176C>T	ENSP00000360200:p.Gln200*					INADL_uc009waf.1_Nonsense_Mutation_p.Q200*|INADL_uc001daa.2_Nonsense_Mutation_p.Q200*|INADL_uc001dad.3_5'UTR	p.Q200*	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			6	712	+			200			PDZ 1.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.598C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	37	6.571638	0.97671	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	.	.	.	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.5728	0.87940	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000255202:Q200X	Q	+	1	0	INADL	62009764	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.174000	0.77620	2.151000	0.67156	0.460000	0.39030	CAG		0.373	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605		5	59	0	0	0	0.000602	0	5	59		
INSL5	10022	broad.mit.edu	37	1	67266883	67266883	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:67266883G>C	ENST00000304526.2	-	1	56	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	8						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						AATAAAAACAGAGTGAAAATG	0.418																																						uc001dcw.2		NaN																	0					0						c.(22-24)CTG>GTG		insulin-like 5 precursor							68.0	71.0	70.0					1																	67266883		2203	4300	6503	SO:0001583	missense	10022					extracellular region	hormone activity	g.chr1:67266883G>C	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.22C>G	1.37:g.67266883G>C	ENSP00000302724:p.Leu8Val						p.L8V	NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN			1	57	-			8					Q3MIY4|Q5VYD8	Missense_Mutation	SNP	ENST00000304526.2	37	c.22C>G	CCDS634.1	.	.	.	.	.	.	.	.	.	.	G	7.240	0.601172	0.13939	.	.	ENSG00000172410	ENST00000304526	T	0.65178	-0.14	4.48	1.06	0.20224	Insulin-like (1);	0.593369	0.14289	N	0.329015	T	0.26629	0.0651	L	0.38692	1.165	0.09310	N	1	P	0.52842	0.956	B	0.43123	0.409	T	0.08289	-1.0729	10	0.33141	T	0.24	11.4678	3.5092	0.07701	0.451:0.2115:0.3376:0.0	.	8	Q9Y5Q6	INSL5_HUMAN	V	8	ENSP00000302724:L8V	ENSP00000302724:L8V	L	-	1	2	INSL5	67039471	0.005000	0.15991	0.000000	0.03702	0.039000	0.13416	0.671000	0.25172	0.037000	0.15575	0.655000	0.94253	CTG		0.418	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1		NM_005478		4	32	0	0	0	0.009096	0	4	32		
ERICH3	127254	broad.mit.edu	37	1	75097549	75097549	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:75097549G>C	ENST00000326665.5	-	7	885	c.667C>G	c.(667-669)Caa>Gaa	p.Q223E	C1orf173_ENST00000420661.2_Missense_Mutation_p.Q26E	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		223										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTGGAAGTTGATATGAATTC	0.403																																						uc001dgg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(667-669)CAA>GAA		hypothetical protein LOC127254							213.0	186.0	195.0					1																	75097549		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75097549G>C																												ENST00000326665.5:c.667C>G	1.37:g.75097549G>C	ENSP00000322609:p.Gln223Glu					C1orf173_uc001dgi.3_Missense_Mutation_p.Q17E	p.Q223E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			7	886	-			223					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.667C>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997638	0.35226	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19532	2.59;2.14	5.39	5.39	0.77823	.	.	.	.	.	T	0.28863	0.0716	L	0.57536	1.79	0.09310	N	1	D;P	0.67145	0.996;0.952	D;P	0.76071	0.987;0.523	T	0.21621	-1.0240	9	0.13470	T	0.59	-3.41	18.7652	0.91869	0.0:0.0:1.0:0.0	.	26;223	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	E	223;26	ENSP00000322609:Q223E;ENSP00000398581:Q26E	ENSP00000322609:Q223E	Q	-	1	0	C1orf173	74870137	1.000000	0.71417	0.009000	0.14445	0.002000	0.02628	5.855000	0.69510	2.543000	0.85770	0.650000	0.86243	CAA		0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1				37	48	0	0	0	0.005524	0	37	48		
EPHX4	253152	broad.mit.edu	37	1	92528691	92528691	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:92528691G>A	ENST00000370383.4	+	7	1035	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	313						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CATGGAGGTTGAGATGGCTGA	0.418																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2		NaN																	0				central_nervous_system(1)	1						c.(937-939)GAG>AAG		abhydrolase domain containing 7							128.0	132.0	131.0					1																	92528691		2203	4300	6503	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92528691G>A	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.937G>A	1.37:g.92528691G>A	ENSP00000359410:p.Glu313Lys						p.E313K	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			7	1041	+			313					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.937G>A	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230088	0.79688	.	.	ENSG00000172031	ENST00000370383	T	0.70045	-0.45	5.84	5.84	0.93424	.	0.044987	0.85682	D	0.000000	T	0.44767	0.1309	L	0.28740	0.885	0.80722	D	1	P	0.38250	0.624	B	0.39465	0.3	T	0.47045	-0.9147	10	0.10902	T	0.67	.	20.1433	0.98067	0.0:0.0:1.0:0.0	.	313	Q8IUS5	EPHX4_HUMAN	K	313	ENSP00000359410:E313K	ENSP00000359410:E313K	E	+	1	0	EPHX4	92301279	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	9.366000	0.97143	2.756000	0.94617	0.650000	0.86243	GAG		0.418	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1		NM_173567		52	81	0	0	0	0.01441	0	52	81		
RPAP2	79871	broad.mit.edu	37	1	92799022	92799022	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:92799022G>C	ENST00000610020.1	+	9	1639	c.1530G>C	c.(1528-1530)ttG>ttC	p.L510F		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	510					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTGAAAAGTTGAGTAAAGTGT	0.333																																						uc001dot.2		NaN																	0				ovary(1)	1						c.(1528-1530)TTG>TTC		RNA polymerase II associated protein 2							121.0	119.0	120.0					1																	92799022		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92799022G>C	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1530G>C	1.37:g.92799022G>C	ENSP00000476948:p.Leu510Phe					RPAP2_uc009wdh.2_RNA	p.L510F	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	9	1639	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	510					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1530G>C	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392723	0.62066	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.49	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.81802	2.56	0.36817	D	0.886210	D	0.89917	1.0	D	0.85130	0.997	T	0.74156	-0.3756	8	0.87932	D	0	-5.1573	9.0917	0.36614	0.0735:0.0:0.7804:0.1461	.	510	Q8IXW5	RPAP2_HUMAN	F	510	.	ENSP00000359368:L510F	L	+	3	2	RPAP2	92571610	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.974000	0.29436	1.338000	0.45544	0.484000	0.47621	TTG		0.333	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2		NM_024813		5	70	0	0	0	0.001984	0	5	70		
EVI5	7813	broad.mit.edu	37	1	93170221	93170221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:93170221G>A	ENST00000370331.1	-	3	371	c.362C>T	c.(361-363)tCa>tTa	p.S121L	EVI5_ENST00000540033.1_Missense_Mutation_p.S121L|EVI5_ENST00000543509.1_Missense_Mutation_p.S121L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	121	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AGAGGCTGATGAACTCGACAC	0.363																																						uc001dox.2		NaN																	0				ovary(1)|breast(1)	2						c.(361-363)TCA>TTA		ecotropic viral integration site 5							149.0	151.0	150.0					1																	93170221		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93170221G>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.362C>T	1.37:g.93170221G>A	ENSP00000359356:p.Ser121Leu					EVI5_uc010otf.1_Missense_Mutation_p.S121L	p.S121L	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	3	372	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	121			Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.362C>T	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573508	0.96553	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05382	3.45;3.45;3.45	5.56	5.56	0.83823	.	0.117423	0.64402	D	0.000011	T	0.14184	0.0343	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72075	0.976;0.946	T	0.01242	-1.1408	10	0.59425	D	0.04	-11.6383	19.525	0.95201	0.0:0.0:1.0:0.0	.	121;121	F5H4R0;O60447	.;EVI5_HUMAN	L	121	ENSP00000359356:S121L;ENSP00000440826:S121L;ENSP00000445019:S121L	ENSP00000359356:S121L	S	-	2	0	EVI5	92942809	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.476000	0.97823	2.630000	0.89119	0.650000	0.86243	TCA		0.363	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1		NM_005665		9	127	0	0	0	0.006214	0	9	127		
SNX7	51375	broad.mit.edu	37	1	99161250	99161250	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:99161250G>C	ENST00000306121.3	+	5	825	c.816G>C	c.(814-816)caG>caC	p.Q272H	SNX7_ENST00000529992.1_Missense_Mutation_p.Q217H|SNX7_ENST00000370189.5_Missense_Mutation_p.Q208H	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	208					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AAATATCTCAGAGAATTTATA	0.313																																						uc010ouc.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(814-816)CAG>CAC		sorting nexin 7 isoform a							34.0	45.0	41.0					1																	99161250		2175	4283	6458	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161250G>C	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.816G>C	1.37:g.99161250G>C	ENSP00000304429:p.Gln272His					SNX7_uc001dsa.2_Missense_Mutation_p.Q208H|SNX7_uc010oud.1_Missense_Mutation_p.Q217H	p.Q272H	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	5	868	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	208					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.816G>C	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543017	0.27563	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.29397	1.91;1.57;1.57	5.65	2.19	0.27852	.	0.173195	0.53938	D	0.000043	T	0.05410	0.0143	N	0.11927	0.2	0.39925	D	0.974206	B;B;B	0.19445	0.016;0.036;0.002	B;B;B	0.28011	0.024;0.085;0.012	T	0.16600	-1.0397	10	0.33940	T	0.23	-24.2199	0.7109	0.00924	0.2819:0.1198:0.3688:0.2295	.	217;272;208	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	H	208;217;272	ENSP00000359208:Q208H;ENSP00000434731:Q217H;ENSP00000304429:Q272H	ENSP00000304429:Q272H	Q	+	3	2	SNX7	98933838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.800000	0.27042	0.790000	0.33803	0.650000	0.86243	CAG		0.313	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2				6	93	0	0	0	0.001168	0	6	93		
S1PR1	1901	broad.mit.edu	37	1	101704981	101704981	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:101704981G>A	ENST00000305352.6	+	2	816	c.441G>A	c.(439-441)ctG>ctA	p.L147L	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	147					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCACAATGCTGAAAATGAAAC	0.557											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dud.2		NaN																	0				ovary(2)|lung(1)	3						c.(439-441)CTG>CTA		sphingosine-1-phosphate receptor 1							94.0	88.0	90.0					1																	101704981		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704981G>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.441G>A	1.37:g.101704981G>A			OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Silent_p.L147L	p.L147L	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	955	+			147			Cytoplasmic (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.441G>A	CCDS777.1																																																																																				0.557	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1		NM_001400		47	52	0	0	0	0.01441	0	47	52		
STXBP3	6814	broad.mit.edu	37	1	109339276	109339276	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:109339276G>A	ENST00000370008.3	+	15	1334	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	428					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GGTTGATCCAGAATGTAAAGA	0.353																																						uc001dvy.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1282-1284)CAG>CAA		syntaxin binding protein 3							140.0	137.0	138.0					1																	109339276		2203	4300	6503	SO:0001819	synonymous_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109339276G>A	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1284G>A	1.37:g.109339276G>A						STXBP3_uc001dvz.2_RNA	p.Q428Q	NM_007269	NP_009200	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	15	1359	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	428					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Silent	SNP	ENST00000370008.3	37	c.1284G>A	CCDS790.1																																																																																				0.353	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1		NM_007269		6	62	0	0	0	0.001984	0	6	62		
AKNAD1	254268	broad.mit.edu	37	1	109359687	109359687	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:109359687C>T	ENST00000370001.3	-	15	2630	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	788						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTATTTCTTCAGTGCTATCA	0.443																																						uc001dwa.2		NaN																	0				ovary(3)	3						c.(2362-2364)GAA>AAA		hypothetical protein LOC254268							90.0	93.0	92.0					1																	109359687		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109359687C>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2362G>A	1.37:g.109359687C>T	ENSP00000359018:p.Glu788Lys					AKNAD1_uc001dwb.2_RNA	p.E788K	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			15	2631	-			788					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.2362G>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394937	0.25205	.	.	ENSG00000162641	ENST00000370001	T	0.21932	1.98	5.53	-3.76	0.04359	.	0.738698	0.11711	N	0.536935	T	0.03477	0.0100	N	0.14661	0.345	0.22581	N	0.998964	B	0.11235	0.004	B	0.06405	0.002	T	0.42498	-0.9448	10	0.29301	T	0.29	-2.7455	12.1399	0.53993	0.0:0.2282:0.0:0.7718	.	788	Q5T1N1	AKND1_HUMAN	K	788	ENSP00000359018:E788K	ENSP00000359018:E788K	E	-	1	0	AKNAD1	109161210	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.397000	0.07269	-0.522000	0.06417	0.655000	0.94253	GAA		0.443	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2		NM_152763		30	56	0	0	0	0.007291	0	30	56		
GSTM3	2947	broad.mit.edu	37	1	110280351	110280351	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:110280351A>T	ENST00000540225.1	-	7	705	c.395T>A	c.(394-396)tTg>tAg	p.L132*	GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Nonsense_Mutation_p.L132*|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Nonsense_Mutation_p.L132*			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	132	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TAGCTCTTCCAAGTACTGAGG	0.433																																						uc001dyo.2		NaN																	0					0						c.(394-396)TTG>TAG		glutathione S-transferase mu 3	Glutathione(DB00143)						93.0	102.0	99.0					1																	110280351		2203	4300	6503	SO:0001587	stop_gained	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280351A>T	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.395T>A	1.37:g.110280351A>T	ENSP00000444978:p.Leu132*					GSTM3_uc001dyp.2_Nonsense_Mutation_p.L129*|GSTM3_uc010ovv.1_Nonsense_Mutation_p.L132*	p.L132*	NM_000849	NP_000840	P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	705	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	132			GST C-terminal.		O60550|Q96HA3	Nonsense_Mutation	SNP	ENST00000540225.1	37	c.395T>A	CCDS812.1	.	.	.	.	.	.	.	.	.	.	A	38	6.809308	0.97853	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	.	.	.	5.44	5.44	0.79542	.	0.132732	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4381	14.6079	0.68493	1.0:0.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000256594:L132X	L	-	2	0	GSTM3	110081874	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.222000	0.72249	2.278000	0.76064	0.533000	0.62120	TTG		0.433	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1		NM_000849		45	93	0	0	0	0.01441	0	45	93		
CHIA	27159	broad.mit.edu	37	1	111862083	111862083	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:111862083G>A	ENST00000369740.1	+	11	1273	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	CHIA_ENST00000353665.6_Silent_p.Q229Q|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Silent_p.Q282Q|CHIA_ENST00000343320.6_Silent_p.Q390Q|CHIA_ENST00000451398.2_Silent_p.Q229Q|CHIA_ENST00000483391.1_Silent_p.Q229Q	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	390					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCGGCCTGCAGAGTGCAAGTA	0.542																																						uc001eas.2		NaN																	0				ovary(1)	1						c.(1168-1170)CAG>CAA		acidic chitinase isoform c							62.0	58.0	59.0					1																	111862083		2203	4300	6503	SO:0001819	synonymous_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111862083G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1170G>A	1.37:g.111862083G>A						CHIA_uc001ear.2_Silent_p.Q282Q|CHIA_uc001eaq.2_Silent_p.Q282Q|CHIA_uc009wgc.2_Silent_p.Q282Q|CHIA_uc001eat.2_Silent_p.Q229Q|CHIA_uc001eav.2_Silent_p.Q229Q|CHIA_uc001eau.2_Silent_p.Q229Q|CHIA_uc009wgd.2_Silent_p.Q229Q	p.Q390Q	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	11	1273	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	390					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	c.1170G>A	CCDS41368.1																																																																																				0.542	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1				24	29	0	0	0	0.003954	0	24	29		
PDE4DIP	9659	broad.mit.edu	37	1	144879302	144879302	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:144879302G>A	ENST00000369354.3	-	27	4337	c.4148C>T	c.(4147-4149)tCa>tTa	p.S1383L	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1383L|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1339L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1519L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1519L|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1383					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTTGTAACTGAGAGGGACCG	0.502			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4147-4149)TCA>TTA		phosphodiesterase 4D interacting protein isoform							109.0	122.0	118.0					1																	144879302		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879302G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4148C>T	1.37:g.144879302G>A	ENSP00000358360:p.Ser1383Leu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1339L|PDE4DIP_uc001elv.3_Missense_Mutation_p.S390L	p.S1383L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	4439	-			1383			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4148C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357575	0.82243	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.05025	3.51;3.7;3.77;3.8;3.81	5.55	5.55	0.83447	.	.	.	.	.	T	0.16599	0.0399	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.00311	-1.1827	9	0.48119	T	0.1	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	1339;1383	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	L	1339;1383;1383;1519;1519	ENSP00000327209:S1339L;ENSP00000358360:S1383L;ENSP00000358363:S1383L;ENSP00000435654:S1519L;ENSP00000358366:S1519L	ENSP00000327209:S1339L	S	-	2	0	PDE4DIP	143590659	1.000000	0.71417	0.872000	0.34217	0.447000	0.32167	6.988000	0.76212	2.616000	0.88540	0.591000	0.81541	TCA		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		58	220	0	0	0	0.01441	0	58	220		
NBPF10	100132406	broad.mit.edu	37	1	145296564	145296564	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:145296564C>G	ENST00000342960.5	+	3	521	c.486C>G	c.(484-486)ctC>ctG	p.L162L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	162						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCCAAAAGCTCAGCCCAGGTA	0.572																																						uc001end.3		NaN																	0					0						c.(484-486)CTC>CTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145296564C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.486C>G	1.37:g.145296564C>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L162L|NBPF10_uc001emq.1_Intron	p.L162L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	521	+	all_hematologic(923;0.032)		162					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.486C>G	CCDS53355.1																																																																																				0.572	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001039703		13	228	0	0	0	0.006122	0	13	228		
HIST2H2AB	317772	broad.mit.edu	37	1	149859417	149859417	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:149859417G>C	ENST00000331128.3	-	1	49	c.50C>G	c.(49-51)tCg>tGg	p.S17W	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	17						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)			GGACGAGCGCGACTTGGCCTT	0.622																																						uc001ete.2		NaN																	0				ovary(1)|breast(1)	2						c.(49-51)TCG>TGG		histone cluster 2, H2ab							56.0	62.0	60.0					1																	149859417		2203	4295	6498	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859417G>C	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.50C>G	1.37:g.149859417G>C	ENSP00000332790:p.Ser17Trp					HIST2H2BE_uc001etc.2_5'Flank	p.S17W	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	50	-	Breast(34;0.0124)|all_hematologic(923;0.127)		17						Missense_Mutation	SNP	ENST00000331128.3	37	c.50C>G	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440025	0.43326	.	.	ENSG00000184270	ENST00000331128	T	0.52057	0.68	5.27	5.27	0.74061	Histone-fold (2);Histone H2A (2);	0.073111	0.51477	D	0.000097	T	0.61502	0.2352	H	0.97564	4.03	0.80722	D	1	P	0.46020	0.871	B	0.43155	0.41	T	0.77560	-0.2542	10	0.87932	D	0	.	16.7454	0.85470	0.0:0.0:1.0:0.0	.	17	Q8IUE6	H2A2B_HUMAN	W	17	ENSP00000332790:S17W	ENSP00000332790:S17W	S	-	2	0	HIST2H2AB	148126041	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.877000	0.87225	2.621000	0.88768	0.655000	0.94253	TCG		0.622	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1		NM_175065		20	102	0	0	0	0.014323	0	20	102		
PI4KB	5298	broad.mit.edu	37	1	151262298	151262298	+	IGR	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:151262298G>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.E927K			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCATCTTCAGAAGAGGAGGA	0.667																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2779-2781)GAA>AAA		zinc finger protein 687							20.0	23.0	22.0					1																	151262298		2195	4277	6472	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262298G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262298G>A						ZNF687_uc009wmo.2_Missense_Mutation_p.E927K|ZNF687_uc009wmp.2_Missense_Mutation_p.E927K	p.E927K	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	2877	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		927			Poly-Glu.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.2779G>A		.	.	.	.	.	.	.	.	.	.	G	14.31	2.498014	0.44455	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00958	5.5;5.5;5.86	5.16	4.25	0.50352	.	0.000000	0.36303	N	0.002669	T	0.00300	0.0009	N	0.24115	0.695	0.36282	D	0.855824	B;B	0.34290	0.447;0.319	B;B	0.33690	0.168;0.051	T	0.40979	-0.9534	10	0.06625	T	0.88	.	9.4913	0.38962	0.0953:0.0:0.9047:0.0	.	927;927	Q8N1G0-2;Q8N1G0	.;ZN687_HUMAN	K	927	ENSP00000336620:E927K;ENSP00000319829:E927K;ENSP00000357874:E927K	ENSP00000319829:E927K	E	+	1	0	ZNF687	149528922	1.000000	0.71417	0.920000	0.36463	0.887000	0.51463	3.562000	0.53777	1.410000	0.46936	0.462000	0.41574	GAA		0.667	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		3	5	0	0	0	0.004672	0	3	5		
SLC27A3	11000	broad.mit.edu	37	1	153748380	153748380	+	Missense_Mutation	SNP	G	G	A	rs559005134		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:153748380G>A	ENST00000368661.3	+	1	613	c.548G>A	c.(547-549)gGa>gAa	p.G183E	SLC27A3_ENST00000484014.1_Intron|SLC27A3_ENST00000271857.2_Missense_Mutation_p.G264E	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	183					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGCGCCGGGAGCCGGAGAT	0.741																																						uc001fcz.2		NaN																	0				ovary(1)	1						c.(547-549)GGA>GAA		solute carrier family 27 member 3							7.0	10.0	9.0					1																	153748380		1979	3933	5912	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153748380G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.548G>A	1.37:g.153748380G>A	ENSP00000357650:p.Gly183Glu					SLC27A3_uc009won.2_RNA	p.G183E	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	613	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		183					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.548G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	8.522	0.868982	0.17322	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.56444	0.46;0.47	2.47	1.41	0.22369	.	1.910970	0.03251	N	0.181926	T	0.11580	0.0282	N	0.19112	0.55	0.09310	N	1	B	0.22414	0.069	B	0.08055	0.003	T	0.09862	-1.0655	10	0.02654	T	1	-0.056	7.0937	0.25297	0.0:0.4142:0.5858:0.0	.	183	Q5K4L6	S27A3_HUMAN	E	264;183	ENSP00000271857:G264E;ENSP00000357650:G183E	ENSP00000271857:G264E	G	+	2	0	SLC27A3	152015004	0.003000	0.15002	0.000000	0.03702	0.026000	0.11368	1.934000	0.40163	0.232000	0.21100	0.462000	0.41574	GGA		0.741	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_024330		5	15	0	0	0	0.001168	0	5	15		
CRTC2	200186	broad.mit.edu	37	1	153923847	153923847	+	Silent	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:153923847G>T	ENST00000368633.1	-	11	1420	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	CRTC2_ENST00000368630.3_Silent_p.P111P|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	431					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGCTGAGGGGCACACGGC	0.632																																						uc010ped.1		NaN																	0				ovary(2)	2						c.(1291-1293)CCC>CCA		CREB regulated transcription coactivator 2							24.0	22.0	23.0					1																	153923847		2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153923847G>T	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1293C>A	1.37:g.153923847G>T						CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Intron	p.P431P	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1363	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		431					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.1293C>A	CCDS30875.1																																																																																				0.632	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3		NM_181715		7	24	1	0	2.7689e-08	0.001984	2.90938e-08	7	24		
PMVK	10654	broad.mit.edu	37	1	154898934	154898934	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:154898934G>A	ENST00000368467.3	-	4	643	c.338C>T	c.(337-339)tCt>tTt	p.S113F		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	113					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGGATGTCAGACACTCTCCG	0.607																																						uc001ffq.2		NaN																	0					0						c.(337-339)TCT>TTT		phosphomevalonate kinase							58.0	48.0	51.0					1																	154898934		2203	4300	6503	SO:0001583	missense	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154898934G>A	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.338C>T	1.37:g.154898934G>A	ENSP00000357452:p.Ser113Phe						p.S113F	NM_006556	NP_006547	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	661	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		113					Q5TZW9	Missense_Mutation	SNP	ENST00000368467.3	37	c.338C>T	CCDS1073.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161640	0.78226	.	.	ENSG00000163344	ENST00000368467	T	0.47528	0.84	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.64761	-0.6331	10	0.87932	D	0	-14.4229	13.2686	0.60148	0.0:0.0:1.0:0.0	.	113	Q15126	PMVK_HUMAN	F	113	ENSP00000357452:S113F	ENSP00000357452:S113F	S	-	2	0	PMVK	153165558	1.000000	0.71417	0.721000	0.30653	0.941000	0.58515	7.257000	0.78362	2.266000	0.75297	0.561000	0.74099	TCT		0.607	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1		NM_006556		18	20	0	0	0	0.006122	0	18	20		
OR10R2	343406	broad.mit.edu	37	1	158450384	158450384	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:158450384C>T	ENST00000368152.1	+	1	717	c.717C>T	c.(715-717)ctC>ctT	p.L239L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	239			L -> F (in dbSNP:rs1418843).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTTCTTATCTCTGCATTCTGA	0.428																																						uc010pik.1		NaN																	0				pancreas(2)|skin(1)	3						c.(715-717)CTC>CTT		olfactory receptor, family 10, subfamily R,							144.0	125.0	132.0					1																	158450384		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450384C>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.717C>T	1.37:g.158450384C>T						uc001fso.1_RNA	p.L239L	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	717	+	all_hematologic(112;0.0378)		239			Cytoplasmic (Potential).		Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.717C>T	CCDS30898.1																																																																																				0.428	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2		NM_001004472		14	118	0	0	0	0.001855	0	14	118		
AIM2	9447	broad.mit.edu	37	1	159035839	159035839	+	Missense_Mutation	SNP	C	C	T	rs369765206		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:159035839C>T	ENST00000368130.4	-	4	965	c.677G>A	c.(676-678)cGt>cAt	p.R226H	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	226	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATCTAACACACGTGAGGCGCT	0.393																																						uc001ftj.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(676-678)CGT>CAT		absent in melanoma 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	122.0	123.0		677	-4.1	0.0	1		123	0,8600		0,0,4300	no	missense	AIM2	NM_004833.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	226/344	159035839	1,13005	2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035839C>T	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.677G>A	1.37:g.159035839C>T	ENSP00000357112:p.Arg226His						p.R226H	NM_004833	NP_004824	O14862	AIM2_HUMAN			4	922	-	all_hematologic(112;0.0429)		226			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.677G>A	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467812	0.26335	2.27E-4	0.0	ENSG00000163568	ENST00000368130;ENST00000368129	T;T	0.14266	2.52;2.52	3.34	-4.08	0.03963	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01976	0.0062	L	0.36672	1.1	0.09310	N	1	P	0.40970	0.734	B	0.34931	0.192	T	0.36866	-0.9730	9	0.27785	T	0.31	0.3952	1.0261	0.01528	0.2566:0.3536:0.2309:0.1589	.	226	O14862	AIM2_HUMAN	H	226;89	ENSP00000357112:R226H;ENSP00000357111:R89H	ENSP00000357111:R89H	R	-	2	0	AIM2	157302463	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.296000	0.00522	-0.584000	0.05913	-0.502000	0.04539	CGT		0.393	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1		NM_004833		59	108	0	0	0	0.01441	0	59	108		
NCSTN	23385	broad.mit.edu	37	1	160318836	160318836	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:160318836G>A	ENST00000294785.5	+	3	363	c.238G>A	c.(238-240)Gag>Aag	p.E80K	NCSTN_ENST00000535857.1_Missense_Mutation_p.E80K|NCSTN_ENST00000392212.4_Missense_Mutation_p.E60K|NCSTN_ENST00000368063.1_Missense_Mutation_p.E60K|NCSTN_ENST00000368065.4_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	80					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGAAAGAGGAGGACCTACA	0.463																																						uc001fvx.2		NaN																	0				ovary(1)|lung(1)	2						c.(238-240)GAG>AAG		nicastrin precursor							123.0	119.0	120.0					1																	160318836		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160318836G>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.238G>A	1.37:g.160318836G>A	ENSP00000294785:p.Glu80Lys					NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.E60K|NCSTN_uc010pjf.1_Missense_Mutation_p.E80K|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	p.E80K	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	362	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		80			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.238G>A	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002656	0.54254	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T;T	0.77750	-1.11;-1.12;-0.21;-0.13;-0.11;-0.14;-1.12	5.08	4.1	0.47936	.	0.130754	0.50627	D	0.000110	T	0.57403	0.2051	L	0.49640	1.575	0.80722	D	1	B;P;B	0.36959	0.447;0.575;0.138	B;B;B	0.32980	0.109;0.156;0.053	T	0.60459	-0.7259	10	0.27785	T	0.31	-11.6271	12.0777	0.53653	0.0:0.1735:0.8265:0.0	.	80;60;80	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	K	80;60;80;80;80;113;60	ENSP00000294785:E80K;ENSP00000357042:E60K;ENSP00000415442:E80K;ENSP00000390409:E80K;ENSP00000442605:E80K;ENSP00000389370:E113K;ENSP00000376047:E60K	ENSP00000294785:E80K	E	+	1	0	NCSTN	158585460	0.996000	0.38824	0.952000	0.39060	0.649000	0.38597	1.634000	0.37123	2.356000	0.79943	0.655000	0.94253	GAG		0.463	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1		NM_015331		22	68	0	0	0	0.012319	0	22	68		
NCSTN	23385	broad.mit.edu	37	1	160319451	160319451	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:160319451G>A	ENST00000294785.5	+	4	552	c.427G>A	c.(427-429)Gat>Aat	p.D143N	NCSTN_ENST00000535857.1_Missense_Mutation_p.D143N|NCSTN_ENST00000392212.4_Missense_Mutation_p.D123N|NCSTN_ENST00000368063.1_Missense_Mutation_p.D123N|NCSTN_ENST00000368065.4_5'Flank|NCSTN_ENST00000459963.1_3'UTR	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	143					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCCCAAATGATGGGTTTGG	0.507																																						uc001fvx.2		NaN																	0				ovary(1)|lung(1)	2						c.(427-429)GAT>AAT		nicastrin precursor							88.0	75.0	79.0					1																	160319451		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160319451G>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.427G>A	1.37:g.160319451G>A	ENSP00000294785:p.Asp143Asn					NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.D123N|NCSTN_uc010pjf.1_Missense_Mutation_p.D143N|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	p.D143N	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	551	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		143			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.427G>A	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804055	0.70682	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T	0.76968	-1.06;-1.05;-0.09;-0.09;-0.08;-1.05	4.53	4.53	0.55603	.	0.058143	0.64402	D	0.000002	T	0.80048	0.4552	M	0.67953	2.075	0.80722	D	1	D;B;B	0.64830	0.994;0.204;0.418	D;B;B	0.63703	0.917;0.178;0.094	T	0.76809	-0.2822	10	0.22109	T	0.4	-8.1581	14.1403	0.65316	0.0:0.0:1.0:0.0	.	143;123;143	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	N	143;123;143;143;176;123	ENSP00000294785:D143N;ENSP00000357042:D123N;ENSP00000390409:D143N;ENSP00000442605:D143N;ENSP00000389370:D176N;ENSP00000376047:D123N	ENSP00000294785:D143N	D	+	1	0	NCSTN	158586075	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.624000	0.83124	2.348000	0.79779	0.655000	0.94253	GAT		0.507	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1		NM_015331		18	25	0	0	0	0.006122	0	18	25		
DUSP12	11266	broad.mit.edu	37	1	161726695	161726695	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:161726695G>T	ENST00000367943.4	+	6	1013	c.981G>T	c.(979-981)atG>atT	p.M327I		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	327					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGGATGAAATGAAAATATTGC	0.388																																						uc001gbo.2		NaN																	0				breast(1)	1						c.(979-981)ATG>ATT		dual specificity phosphatase 12							81.0	80.0	80.0					1																	161726695		2203	4300	6503	SO:0001583	missense	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161726695G>T	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.981G>T	1.37:g.161726695G>T	ENSP00000356920:p.Met327Ile					DUSP12_uc001gbp.2_Missense_Mutation_p.M197I	p.M327I	NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		6	992	+	all_hematologic(112;0.0359)		327					Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	37	c.981G>T	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	G	1.507	-0.550562	0.03996	.	.	ENSG00000081721	ENST00000367943	T	0.03663	3.85	5.81	2.75	0.32379	.	0.882861	0.10345	N	0.685825	T	0.00754	0.0025	N	0.17379	0.485	0.26629	N	0.97252	B	0.02656	0.0	B	0.01281	0.0	T	0.46205	-0.9208	9	0.17832	T	0.49	.	5.8843	0.18872	0.0762:0.136:0.6474:0.1405	.	327	Q9UNI6	DUS12_HUMAN	I	327	ENSP00000356920:M327I	ENSP00000356920:M327I	M	+	3	0	DUSP12	159993319	1.000000	0.71417	0.997000	0.53966	0.571000	0.35966	0.926000	0.28804	0.781000	0.33589	-0.182000	0.12963	ATG		0.388	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1		NM_007240		16	81	1	0	4.14922e-12	0.004007	4.46197e-12	16	81		
ALDH9A1	223	broad.mit.edu	37	1	165648806	165648806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:165648806G>T	ENST00000354775.4	-	6	1107	c.803C>A	c.(802-804)tCa>tAa	p.S268*	ALDH9A1_ENST00000538148.1_Nonsense_Mutation_p.S174*|ALDH9A1_ENST00000461664.1_5'Flank	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	244					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TCCTTTAGCTGACATCTCCAT	0.413																																					Ovarian(179;1583 2014 18106 33801 42447)	uc001gdh.1		NaN																	0					0						c.(802-804)TCA>TAA		aldehyde dehydrogenase 9A1	NADH(DB00157)						165.0	144.0	151.0					1																	165648806		2203	4300	6503	SO:0001587	stop_gained	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165648806G>T	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.803C>A	1.37:g.165648806G>T	ENSP00000346827:p.Ser268*					ALDH9A1_uc010pky.1_Nonsense_Mutation_p.S174*|ALDH9A1_uc010pkz.1_Nonsense_Mutation_p.S258*|ALDH9A1_uc010pla.1_Nonsense_Mutation_p.S174*	p.S268*	NM_000696	NP_000687	P49189	AL9A1_HUMAN			6	908	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		244					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Nonsense_Mutation	SNP	ENST00000354775.4	37	c.803C>A	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	39	7.763782	0.98477	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	.	.	.	5.05	4.1	0.47936	.	0.627918	0.15919	N	0.238204	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	12.6883	0.56960	0.0:0.0:0.8354:0.1646	.	.	.	.	X	268;174	.	ENSP00000346827:S268X	S	-	2	0	ALDH9A1	163915430	1.000000	0.71417	0.576000	0.28549	0.908000	0.53690	9.611000	0.98342	2.340000	0.79590	0.561000	0.74099	TCA		0.413	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1				25	154	1	0	3.65163e-15	0.00632	3.96004e-15	25	154		
POGK	57645	broad.mit.edu	37	1	166810266	166810266	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:166810266G>A	ENST00000367875.1	+	2	433	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	POGK_ENST00000536514.1_5'UTR|POGK_ENST00000537173.1_5'UTR|POGK_ENST00000367876.4_Missense_Mutation_p.E25K			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	25					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCAGAGCCGGGAACTAGAGGA	0.517																																					GBM(76;192 1530 30153 48742)	uc001gdt.1		NaN																	0				ovary(1)	1						c.(73-75)GAA>AAA		pogo transposable element with KRAB domain							96.0	94.0	95.0					1																	166810266		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166810266G>A	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.73G>A	1.37:g.166810266G>A	ENSP00000356849:p.Glu25Lys					POGK_uc010ple.1_5'UTR|POGK_uc010plf.1_5'UTR	p.E25K	NM_017542	NP_060012	Q9P215	POGK_HUMAN			2	193	+			25			Potential.		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.73G>A	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493983	0.64186	.	.	ENSG00000143157	ENST00000449930;ENST00000367876;ENST00000367875	T;T;T	0.01838	4.65;4.61;4.61	5.34	1.4	0.22301	.	0.515606	0.17727	N	0.164027	T	0.00580	0.0019	N	0.24115	0.695	0.28702	N	0.904029	B	0.02656	0.0	B	0.01281	0.0	T	0.47649	-0.9101	9	0.51188	T	0.08	-7.6077	4.5404	0.12054	0.2626:0.1624:0.5751:0.0	.	25	Q9P215	POGK_HUMAN	K	25	ENSP00000404402:E25K;ENSP00000356850:E25K;ENSP00000356849:E25K	ENSP00000356849:E25K	E	+	1	0	POGK	165076890	0.824000	0.29247	0.901000	0.35422	0.888000	0.51559	0.378000	0.20569	0.181000	0.19994	0.650000	0.86243	GAA		0.517	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1		NM_017542		45	88	0	0	0	0.009718	0	45	88		
MROH9	80133	broad.mit.edu	37	1	170959046	170959046	+	Silent	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:170959046T>C	ENST00000367758.3	+	11	1029	c.930T>C	c.(928-930)tgT>tgC	p.C310C	MROH9_ENST00000367759.4_Silent_p.C310C	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	310																	ATAACAATTGTATGAAGGATG	0.423																																						uc001ghg.2		NaN																	0				pancreas(1)	1						c.(928-930)TGT>TGC		hypothetical protein LOC80133 isoform 2							188.0	178.0	181.0					1																	170959046		1909	4129	6038	SO:0001819	synonymous_variant	80133						binding	g.chr1:170959046T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.930T>C	1.37:g.170959046T>C						C1orf129_uc009wvy.2_Silent_p.C117C|C1orf129_uc010plz.1_Silent_p.C310C	p.C310C	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			11	1060	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		310					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.930T>C	CCDS41436.1																																																																																				0.423	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1		NM_025063		65	108	0	0	0	0.01441	0	65	108		
MROH9	80133	broad.mit.edu	37	1	170965666	170965666	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:170965666G>C	ENST00000367758.3	+	14	1455	c.1356G>C	c.(1354-1356)ctG>ctC	p.L452L	MROH9_ENST00000367759.4_Silent_p.L452L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	452																	AGGATGCCCTGAGAGTTCTGC	0.418																																						uc001ghg.2		NaN																	0				pancreas(1)	1						c.(1354-1356)CTG>CTC		hypothetical protein LOC80133 isoform 2							138.0	132.0	134.0					1																	170965666		1880	4107	5987	SO:0001819	synonymous_variant	80133						binding	g.chr1:170965666G>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1356G>C	1.37:g.170965666G>C						C1orf129_uc009wvy.2_Silent_p.L259L|C1orf129_uc010plz.1_Silent_p.L452L	p.L452L	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			14	1486	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		452					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1356G>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	7.910	0.736220	0.15574	.	.	ENSG00000117501	ENST00000426136	.	.	.	5.75	4.83	0.62350	.	.	.	.	.	T	0.50752	0.1634	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52638	-0.8549	4	.	.	.	-12.2639	11.1803	0.48625	0.0857:0.0:0.9143:0.0	.	.	.	.	Q	59	.	.	E	+	1	0	C1orf129	169232290	0.998000	0.40836	0.976000	0.42696	0.883000	0.51084	2.127000	0.42035	1.404000	0.46819	0.655000	0.94253	GAG		0.418	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1		NM_025063		20	109	0	0	0	0.010504	0	20	109		
KLHL20	27252	broad.mit.edu	37	1	173703360	173703360	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:173703360G>A	ENST00000209884.4	+	3	668	c.532G>A	c.(532-534)Gac>Aac	p.D178N	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	178	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGCTTTTGCTGACACACATTC	0.463																																					GBM(159;862 2695 6559 23041)	uc001gjc.2		NaN																	0				ovary(1)	1						c.(532-534)GAC>AAC		kelch-like 20							86.0	87.0	87.0					1																	173703360		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173703360G>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.532G>A	1.37:g.173703360G>A	ENSP00000209884:p.Asp178Asn					KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.D160N|KLHL20_uc001gjd.2_Missense_Mutation_p.D178N	p.D178N	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			3	711	+			178			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.532G>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349200	0.95830	.	.	ENSG00000076321	ENST00000209884	T	0.70164	-0.46	5.63	5.63	0.86233	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.80597	0.4653	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80745	-0.1245	9	.	.	.	.	18.5195	0.90947	0.0:0.0:1.0:0.0	.	178;178	Q9BS75;Q9Y2M5	.;KLH20_HUMAN	N	178	ENSP00000209884:D178N	.	D	+	1	0	KLHL20	171969983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.731000	0.98807	2.664000	0.90586	0.644000	0.83932	GAC		0.463	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1		NM_014458		6	80	0	0	0	0.001984	0	6	80		
PAPPA2	60676	broad.mit.edu	37	1	176681100	176681100	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:176681100G>A	ENST00000367662.3	+	12	4945	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1261					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGAAAGAGGATGAGGTTTG	0.468																																						uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3781-3783)GAT>AAT		pappalysin 2 isoform 1							129.0	137.0	134.0					1																	176681100		1994	4169	6163	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176681100G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3781G>A	1.37:g.176681100G>A	ENSP00000356634:p.Asp1261Asn					PAPPA2_uc009www.2_RNA	p.D1261N	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			12	4945	+			1261					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3781G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	0.402	-0.917693	0.02396	.	.	ENSG00000116183	ENST00000367662	T	0.01505	4.82	5.45	-0.99	0.10238	.	1.060040	0.07183	N	0.854439	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49273	-0.8957	10	0.12766	T	0.61	0.0228	5.0791	0.14647	0.4268:0.1453:0.4278:0.0	.	1261	Q9BXP8	PAPP2_HUMAN	N	1261	ENSP00000356634:D1261N	ENSP00000356634:D1261N	D	+	1	0	PAPPA2	174947723	0.042000	0.20092	0.000000	0.03702	0.000000	0.00434	0.313000	0.19415	-0.486000	0.06744	-0.749000	0.03505	GAT		0.468	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				6	78	0	0	0	0.001984	0	6	78		
TOR1AIP1	26092	broad.mit.edu	37	1	179887135	179887135	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:179887135G>C	ENST00000606911.2	+	10	1704	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.D506H|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D521H|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.D384H			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	505	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGCCTTCAAAGATGTAGCCTT	0.428																																						uc001gnq.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(1513-1515)GAT>CAT		lamina-associated polypeptide 1B							93.0	95.0	94.0					1																	179887135		2203	4300	6503	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179887135G>C		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1513G>C	1.37:g.179887135G>C	ENSP00000476687:p.Asp505His						p.D505H	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			10	1731	+			505			Lumenal (Potential).		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.1513G>C	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.96|16.96	3.266605|3.266605	0.59540|0.59540	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000325993;ENST00000271583;ENST00000435319|ENST00000447964	T;T|T	0.38560|0.35605	1.13;1.13|1.3	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.240894|.	0.42172|.	D|.	0.000757|.	T|T	0.50650|0.50650	0.1628|0.1628	M|M	0.66939|0.66939	2.045|2.045	0.39532|0.39532	D|D	0.968684|0.968684	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.47302|0.47302	-0.9128|-0.9128	9|6	.|.	.|.	.|.	-17.3219|-17.3219	13.2549|13.2549	0.60073|0.60073	0.0727:0.0:0.9273:0.0|0.0727:0.0:0.9273:0.0	.|.	505|.	Q5JTV8|.	TOIP1_HUMAN|.	H|N	300;521;505|239	ENSP00000271583:D521H;ENSP00000393292:D505H|ENSP00000393613:K239N	.|.	D|K	+|+	1|3	0|2	TOR1AIP1|TOR1AIP1	178153758|178153758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.758000|3.758000	0.55220|0.55220	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.428	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4		NM_015602		8	140	0	0	0	0.00308	0	8	140		
APOBEC4	403314	broad.mit.edu	37	1	183616842	183616842	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:183616842C>T	ENST00000308641.4	-	2	1346	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	359					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTCTTCTTTTCATCTGCCTCC	0.408																																						uc001gqn.2		NaN																	0					0						c.(1075-1077)GAA>AAA		apolipoprotein B							119.0	129.0	126.0					1																	183616842		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616842C>T	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1075G>A	1.37:g.183616842C>T	ENSP00000310622:p.Glu359Lys					RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	p.E359K	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN			2	1347	-			359					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.1075G>A	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694903	0.30052	.	.	ENSG00000173627	ENST00000308641	T	0.12147	2.71	5.45	-1.02	0.10135	.	0.368797	0.21476	N	0.073904	T	0.08133	0.0203	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29305	-1.0016	10	0.34782	T	0.22	-17.3166	10.1644	0.42871	0.0:0.4658:0.0:0.5342	.	359	Q8WW27	ABEC4_HUMAN	K	359	ENSP00000310622:E359K	ENSP00000310622:E359K	E	-	1	0	APOBEC4	181883465	0.025000	0.19082	0.655000	0.29622	0.218000	0.24690	0.414000	0.21164	-0.191000	0.10448	-0.136000	0.14681	GAA		0.408	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1		NM_203454		21	162	0	0	0	0.00278	0	21	162		
HMCN1	83872	broad.mit.edu	37	1	186082010	186082010	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:186082010G>A	ENST00000271588.4	+	72	11285	c.11056G>A	c.(11056-11058)Gat>Aat	p.D3686N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D3686N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3686	Ig-like C2-type 35.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACCTAGGTGATACAGCCAA	0.403																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(11056-11058)GAT>AAT		hemicentin 1 precursor							126.0	120.0	122.0					1																	186082010		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186082010G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11056G>A	1.37:g.186082010G>A	ENSP00000271588:p.Asp3686Asn						p.D3686N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			72	11285	+			3686			Ig-like C2-type 35.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11056G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201299	0.79015	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80994	-1.44;-1.44	4.91	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92140	0.7508	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93285	0.6663	10	0.51188	T	0.08	.	18.4556	0.90720	0.0:0.0:1.0:0.0	.	3686	Q96RW7	HMCN1_HUMAN	N	3686	ENSP00000271588:D3686N;ENSP00000356462:D3686N	ENSP00000271588:D3686N	D	+	1	0	HMCN1	184348633	1.000000	0.71417	0.590000	0.28732	0.233000	0.25261	9.593000	0.98250	2.416000	0.81992	0.655000	0.94253	GAT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		21	74	0	0	0	0.008871	0	21	74		
GPR37L1	9283	broad.mit.edu	37	1	202097339	202097339	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:202097339C>T	ENST00000367282.5	+	2	1207	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	367					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TGACCGTGGTCTACGCCTTCT	0.647																																						uc001gxj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1099-1101)GTC>GTT		G-protein coupled receptor 37 like 1 precursor							149.0	133.0	138.0					1																	202097339		2203	4300	6503	SO:0001819	synonymous_variant	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097339C>T	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1101C>T	1.37:g.202097339C>T							p.V367V	NM_004767	NP_004758	O60883	ETBR2_HUMAN			2	1164	+			367			Helical; Name=6; (Potential).		B2R7M9|Q5SXP7|Q86VP7	Silent	SNP	ENST00000367282.5	37	c.1101C>T	CCDS1420.1																																																																																				0.647	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2		NM_004767		9	113	0	0	0	0.006214	0	9	113		
KDM5B	10765	broad.mit.edu	37	1	202700976	202700976	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:202700976C>T	ENST00000367265.3	-	24	5165	c.4001G>A	c.(4000-4002)cGa>cAa	p.R1334Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1370Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1334					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GATACAACTTCGTCCAGTTGA	0.408																																						uc001gyf.2		NaN																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(4000-4002)CGA>CAA		jumonji, AT rich interactive domain 1B							95.0	93.0	94.0					1																	202700976		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202700976C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4001G>A	1.37:g.202700976C>T	ENSP00000356234:p.Arg1334Gln					KDM5B_uc009xag.2_Missense_Mutation_p.R1370Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R1176Q	p.R1334Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			24	4117	-			1334					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4001G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	9.822	1.186152	0.21870	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.85013	-1.84;-1.64;-1.93	5.78	3.7	0.42460	.	0.292813	0.39687	N	0.001299	T	0.63046	0.2478	N	0.04090	-0.28	0.25114	N	0.990696	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.48636	-0.9018	10	0.08837	T	0.75	-3.4913	6.8217	0.23861	0.0:0.5892:0.0:0.4108	.	1370;1334	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Q	1334;1176;1370;1176	ENSP00000356234:R1334Q;ENSP00000356233:R1370Q;ENSP00000235790:R1176Q	ENSP00000235790:R1176Q	R	-	2	0	KDM5B	200967599	0.999000	0.42202	0.151000	0.22473	0.981000	0.71138	1.508000	0.35769	0.660000	0.30964	0.655000	0.94253	CGA		0.408	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618		7	75	0	0	0	0.001984	0	7	75		
KDM5B	10765	broad.mit.edu	37	1	202703015	202703015	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:202703015C>G	ENST00000367265.3	-	23	4588		c.e23-1		KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GAGTTGCCATCTGAAAAAGAG	0.493																																						uc001gyf.2		NaN																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.e23-1		jumonji, AT rich interactive domain 1B							90.0	98.0	95.0					1																	202703015		2203	4297	6500	SO:0001630	splice_region_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202703015C>G	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3424-1G>C	1.37:g.202703015C>G						KDM5B_uc009xag.2_Splice_Site_p.M1178_splice|KDM5B_uc001gyg.1_Splice_Site_p.M984_splice	p.M1142_splice	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			23	3540	-								O95811|Q15752|Q9Y3Q5	Splice_Site	SNP	ENST00000367265.3	37	c.3424_splice	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438503	0.83885	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9352	0.97137	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDM5B	200969638	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.485000	0.81204	2.703000	0.92315	0.655000	0.94253	.		0.493	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618	Intron	20	143	0	0	0	0.012319	0	20	143		
RBBP5	5929	broad.mit.edu	37	1	205070807	205070807	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:205070807G>C	ENST00000264515.6	-	6	694	c.553C>G	c.(553-555)Ctt>Gtt	p.L185V	RBBP5_ENST00000367164.1_Missense_Mutation_p.L185V	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	185					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GAAGCAACAAGATCCTGAGAA	0.393																																						uc001hbu.1		NaN																	0				lung(1)	1						c.(553-555)CTT>GTT		retinoblastoma binding protein 5							177.0	177.0	177.0					1																	205070807		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205070807G>C	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.553C>G	1.37:g.205070807G>C	ENSP00000264515:p.Leu185Val					RBBP5_uc010prd.1_Missense_Mutation_p.L220V|RBBP5_uc001hbv.1_Missense_Mutation_p.L185V|RBBP5_uc010pre.1_Missense_Mutation_p.L52V	p.L185V	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		6	683	-	Breast(84;0.0505)		185			WD 3.		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.553C>G	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	8.304	0.820681	0.16678	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.27256	1.68;1.68	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	N	0.04880	-0.145	0.80722	D	1	B;B;B;B	0.25441	0.075;0.025;0.126;0.045	B;B;B;B	0.25140	0.058;0.026;0.046;0.026	T	0.10337	-1.0634	10	0.02654	T	1	.	12.9681	0.58497	0.0746:0.0:0.9254:0.0	.	58;220;185;185	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	V	185	ENSP00000264515:L185V;ENSP00000356132:L185V	ENSP00000264515:L185V	L	-	1	0	RBBP5	203337430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.626000	0.74253	2.744000	0.94065	0.586000	0.80456	CTT		0.393	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1		NM_005057		59	122	0	0	0	0.01441	0	59	122		
C4BPA	722	broad.mit.edu	37	1	207314612	207314612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:207314612C>T	ENST00000367070.3	+	10	1629	c.1435C>T	c.(1435-1437)Caa>Taa	p.Q479*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	479	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCAGCCCCTCAATGTAAAGG	0.463																																						uc001hfo.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1435-1437)CAA>TAA		complement component 4 binding protein, alpha							81.0	85.0	84.0					1																	207314612		2203	4300	6503	SO:0001587	stop_gained	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207314612C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1435C>T	1.37:g.207314612C>T	ENSP00000356037:p.Gln479*						p.Q479*	NM_000715	NP_000706	P04003	C4BPA_HUMAN			10	1629	+			479			Sushi 7.		Q5VVQ8	Nonsense_Mutation	SNP	ENST00000367070.3	37	c.1435C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	38	7.100590	0.98063	.	.	ENSG00000123838	ENST00000367070	.	.	.	5.16	4.23	0.50019	.	0.625059	0.14331	N	0.326380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	11.8567	0.52441	0.0:0.8234:0.1766:0.0	.	.	.	.	X	479	.	ENSP00000356037:Q479X	Q	+	1	0	C4BPA	205381235	0.017000	0.18338	0.209000	0.23619	0.508000	0.34012	0.046000	0.14035	1.261000	0.44149	0.655000	0.94253	CAA		0.463	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3				19	86	0	0	0	0.008871	0	19	86		
EPRS	2058	broad.mit.edu	37	1	220208271	220208271	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:220208271C>T	ENST00000366923.3	-	3	485	c.216G>A	c.(214-216)ctG>ctA	p.L72L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	72					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.L72L(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TATGTTCCATCAGATTAGAGC	0.363																																						uc001hly.1		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(214-216)CTG>CTA		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						175.0	158.0	164.0					1																	220208271		2203	4300	6503	SO:0001819	synonymous_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220208271C>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.216G>A	1.37:g.220208271C>T						EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Silent_p.L72L|EPRS_uc009xdt.1_5'UTR	p.L72L	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	3	486	-			72					A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	c.216G>A	CCDS31027.1																																																																																				0.363	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2		NM_004446		45	71	0	0	0	0.01441	0	45	71		
C1orf198	84886	broad.mit.edu	37	1	231004195	231004195	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:231004195G>C	ENST00000366663.5	-	1	204	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	C1orf198_ENST00000470540.1_Intron|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	22						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGTCGTCCAGAGGCCGGTTC	0.697																																						uc001hub.2		NaN																	0					0						c.(64-66)CTG>GTG		hypothetical protein LOC84886 isoform 1							16.0	20.0	18.0					1																	231004195		2200	4297	6497	SO:0001583	missense	84886							g.chr1:231004195G>C	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.64C>G	1.37:g.231004195G>C	ENSP00000355623:p.Leu22Val					C1orf198_uc001huc.1_Intron|C1orf198_uc001hud.1_Intron	p.L22V	NM_032800	NP_116189	Q9H425	CA198_HUMAN			1	108	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	22					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.64C>G	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.711953	0.89112	.	.	ENSG00000119280	ENST00000366663	T	0.35236	1.32	3.63	3.63	0.41609	.	0.339869	0.23620	U	0.046251	T	0.45637	0.1352	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.53092	-0.8487	10	0.87932	D	0	.	15.081	0.72113	0.0:0.0:1.0:0.0	.	22	Q9H425	CA198_HUMAN	V	22	ENSP00000355623:L22V	ENSP00000355623:L22V	L	-	1	2	C1orf198	229070818	.	.	1.000000	0.80357	0.928000	0.56348	.	.	1.829000	0.53265	0.457000	0.33378	CTG		0.697	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2		NM_032800		5	10	0	0	0	0.001168	0	5	10		
WDR64	128025	broad.mit.edu	37	1	241951319	241951319	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:241951319G>A	ENST00000366552.2	+	23	3051	c.2844G>A	c.(2842-2844)ctG>ctA	p.L948L	WDR64_ENST00000437684.2_Silent_p.L781L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	948										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AATATCCTCTGATATTTGACC	0.358																																						uc001hzf.1		NaN																	0				skin(1)	1						c.(1501-1503)CTG>CTA		WD repeat domain 64							60.0	60.0	60.0					1																	241951319		2203	4300	6503	SO:0001819	synonymous_variant	128025							g.chr1:241951319G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2844G>A	1.37:g.241951319G>A						WDR64_uc001hzg.1_Silent_p.L414L	p.L501L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		13	1656	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	948					B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37	c.1503G>A																																																																																					0.358	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_144625		27	58	0	0	0	0.005443	0	27	58		
HNRNPU	3192	broad.mit.edu	37	1	245019785	245019785	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:245019785G>C	ENST00000283179.9	-	10	2049	c.1886C>G	c.(1885-1887)cCa>cGa	p.P629R	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.P610R|HNRNPU-AS1_ENST00000489705.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	629					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGCATGTTCTGGTAGGTCTTT	0.378																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1		NaN																	0					0						c.(1885-1887)CCA>CGA		heterogeneous nuclear ribonucleoprotein U							197.0	200.0	199.0					1																	245019785		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245019785G>C	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1886C>G	1.37:g.245019785G>C	ENSP00000283179:p.Pro629Arg					HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.P353R|HNRNPU_uc001iba.1_Missense_Mutation_p.P610R|HNRNPU_uc001ibb.1_Missense_Mutation_p.P317R	p.P629R	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		10	2104	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		629					O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1886C>G	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761127	0.89932	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.44482	0.92;0.92	5.79	5.79	0.91817	.	0.049740	0.85682	D	0.000000	T	0.71592	0.3358	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.74842	-0.3527	10	0.62326	D	0.03	-0.7188	20.0349	0.97554	0.0:0.0:1.0:0.0	.	554;610;629;353	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	R	610;629;554	ENSP00000393151:P610R;ENSP00000283179:P629R	ENSP00000283179:P629R	P	-	2	0	HNRNPU	243086408	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.808000	0.99193	2.744000	0.94065	0.650000	0.86243	CCA		0.378	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3		NM_031844		20	137	0	0	0	0.00278	0	20	137		
CNST	163882	broad.mit.edu	37	1	246810440	246810440	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:246810440G>A	ENST00000366513.4	+	9	1206		c.e9-1		CNST_ENST00000366512.3_Splice_Site|CNST_ENST00000483271.1_Splice_Site	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein						negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTCATCTTTAGAGAGTAAAAC	0.383											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ibp.2		NaN																	0					0						c.e9-1		hypothetical protein LOC163882 isoform 1							41.0	45.0	44.0					1																	246810440		2202	4299	6501	SO:0001630	splice_region_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810440G>A	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.938-1G>A	1.37:g.246810440G>A			OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2468	CNST_uc001ibo.3_Splice_Site_p.E313_splice	p.E313_splice	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	1316	+								Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Splice_Site	SNP	ENST00000366513.4	37	c.938_splice	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524738	0.64747	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	.	.	.	5.61	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2768	0.73748	0.0:0.0:0.8588:0.1412	.	.	.	.	.	-1	.	.	.	+	.	.	CNST	244877063	1.000000	0.71417	0.967000	0.41034	0.868000	0.49771	6.389000	0.73199	1.478000	0.48253	0.460000	0.39030	.		0.383	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		NM_152609	Intron	16	75	0	0	0	0.003163	0	16	75		
FAM208B	54906	broad.mit.edu	37	10	5789126	5789126	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:5789126G>A	ENST00000328090.5	+	15	4367	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1248																	TCCAAACACTGAAAATATGAA	0.408																																						uc001iij.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3742-3744)GAA>AAA		hypothetical protein LOC54906							77.0	77.0	77.0					10																	5789126		1895	4131	6026	SO:0001583	missense	54906							g.chr10:5789126G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3742G>A	10.37:g.5789126G>A	ENSP00000328426:p.Glu1248Lys					C10orf18_uc001iik.2_Missense_Mutation_p.E92K	p.E1248K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			15	4367	+			1248					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.3742G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238397	0.22711	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.07444	3.19	5.55	3.68	0.42216	.	0.097533	0.45126	N	0.000385	T	0.07863	0.0197	L	0.49350	1.555	0.30238	N	0.795267	B	0.33266	0.404	B	0.26969	0.075	T	0.08432	-1.0722	10	0.45353	T	0.12	.	8.7439	0.34573	0.1774:0.0:0.8226:0.0	.	1248	Q5VWN6	F208B_HUMAN	K	1248;443	ENSP00000328426:E1248K	ENSP00000328426:E1248K	E	+	1	0	C10orf18	5829132	0.988000	0.35896	0.447000	0.26932	0.005000	0.04900	1.779000	0.38624	0.685000	0.31468	0.591000	0.81541	GAA		0.408	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782		48	83	0	0	0	0.01441	0	48	83		
IL2RA	3559	broad.mit.edu	37	10	6104059	6104059	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:6104059C>T	ENST00000379959.3	-	1	229	c.56G>A	c.(55-57)tGc>tAc	p.C19Y	IL2RA_ENST00000256876.6_Missense_Mutation_p.C19Y|IL2RA_ENST00000379954.1_Missense_Mutation_p.C19Y	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	19					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACCTGCCTGGCAGCCAGGCAC	0.612																																						uc001iiz.1		NaN																	0				ovary(1)|skin(1)	2						c.(55-57)TGC>TAC		interleukin 2 receptor, alpha chain precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						68.0	65.0	66.0					10																	6104059		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6104059C>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.56G>A	10.37:g.6104059C>T	ENSP00000369293:p.Cys19Tyr					IL2RA_uc009xih.1_Missense_Mutation_p.C19Y	p.C19Y	NM_000417	NP_000408	P01589	IL2RA_HUMAN			1	215	-			19					Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.56G>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	9.637	1.138050	0.21123	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.59502	1.21;0.26;1.19	5.24	-3.39	0.04868	.	1.124500	0.06717	N	0.774128	T	0.38241	0.1033	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.20940	-1.0260	10	0.15952	T	0.53	-22.4056	0.2646	0.00223	0.3063:0.2309:0.1336:0.3292	.	19;19	Q5W005;P01589	.;IL2RA_HUMAN	Y	19;5;19;19	ENSP00000369293:C19Y;ENSP00000369287:C19Y;ENSP00000256876:C19Y	ENSP00000256876:C19Y	C	-	2	0	IL2RA	6144065	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.471000	0.06631	-0.187000	0.10516	-0.311000	0.09066	TGC		0.612	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1		NM_000417		9	87	0	0	0	0.008291	0	9	87		
NSUN6	221078	broad.mit.edu	37	10	18940106	18940106	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:18940106C>G	ENST00000377304.4	-	1	445	c.27G>C	c.(25-27)ttG>ttC	p.L9F	RP11-139J15.7_ENST00000606425.1_Intron	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	9							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						CCTCAGGTCTCAAAGATATCT	0.333																																						uc010qcp.1		NaN																	0				ovary(2)	2						c.(25-27)TTG>TTC		NOL1/NOP2/Sun domain family, member 6							96.0	97.0	97.0					10																	18940106		2202	4300	6502	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18940106C>G	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.27G>C	10.37:g.18940106C>G	ENSP00000366519:p.Leu9Phe						p.L9F	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN			1	445	-			9					B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.27G>C	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123381	0.37436	.	.	ENSG00000241058	ENST00000377304	T	0.36340	1.26	5.32	3.46	0.39613	.	0.137952	0.50627	D	0.000111	T	0.25232	0.0613	L	0.38531	1.155	0.43279	D	0.995244	B	0.14012	0.009	B	0.14578	0.011	T	0.05370	-1.0889	10	0.30078	T	0.28	.	7.3041	0.26436	0.0:0.7013:0.1402:0.1585	.	9	Q8TEA1	NSUN6_HUMAN	F	9	ENSP00000366519:L9F	ENSP00000366519:L9F	L	-	3	2	NSUN6	18980112	0.971000	0.33674	0.999000	0.59377	0.962000	0.63368	0.736000	0.26130	0.736000	0.32559	0.655000	0.94253	TTG		0.333	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1		NM_182543		41	81	0	0	0	0.011902	0	41	81		
SVIL	6840	broad.mit.edu	37	10	29747377	29747377	+	Missense_Mutation	SNP	C	C	T	rs147020336		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:29747377C>T	ENST00000355867.4	-	37	7296	c.6544G>A	c.(6544-6546)Gac>Aac	p.D2182N	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.D2182N|PTCHD3P1_ENST00000438202.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D1096N|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.D1756N|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2182	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.D2182N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAGTCTTCGTCGGTGAGATAG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16467	0.0		0.0	False		,,,				2504	0.0					uc001iut.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(6544-6546)GAC>AAC		supervillin isoform 2		C	ASN/ASP,ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	44.0	44.0	44.0		5266,6544	4.4	0.5	10	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense	SVIL	NM_003174.3,NM_021738.2	23,23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	1756/1789,2182/2215	29747377	3,13003	2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29747377C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6544G>A	10.37:g.29747377C>T	ENSP00000348128:p.Asp2182Asn					LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.D1096N|SVIL_uc001iuu.1_Missense_Mutation_p.D1756N	p.D2182N	NM_021738	NP_068506	O95425	SVIL_HUMAN			37	7297	-		Breast(68;0.103)	2182			HP.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6544G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847656	0.71603	6.81E-4	0.0	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.16324	2.46;2.47;2.47;2.35	4.39	4.39	0.52855	Villin headpiece (5);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.86343	2.81	0.80722	D	1	D;P;D	0.56746	0.971;0.943;0.977	P;P;P	0.52514	0.611;0.576;0.701	T	0.53947	-0.8366	10	0.72032	D	0.01	-13.2492	17.1971	0.86895	0.0:1.0:0.0:0.0	.	1096;1756;2182	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	N	1756;2182;2182;1096	ENSP00000364549:D1756N;ENSP00000364547:D2182N;ENSP00000348128:D2182N;ENSP00000445472:D1096N	ENSP00000348128:D2182N	D	-	1	0	SVIL	29787383	1.000000	0.71417	0.497000	0.27552	0.043000	0.13939	7.480000	0.81109	2.264000	0.75181	0.644000	0.83932	GAC		0.597	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				5	44	0	0	0	0.000602	0	5	44		
ITGB1	3688	broad.mit.edu	37	10	33201009	33201009	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:33201009C>G	ENST00000396033.2	-	12	1648	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	ITGB1_ENST00000302278.3_Missense_Mutation_p.D505H|ITGB1_ENST00000374956.4_Missense_Mutation_p.D505H|ITGB1_ENST00000423113.1_Missense_Mutation_p.D505H	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	505	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)	TTAACTTCATCTGTGCTGCAT	0.413																																						uc001iws.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1513-1515)GAT>CAT		integrin beta 1 isoform 1A precursor							148.0	124.0	132.0					10																	33201009		2203	4300	6503	SO:0001583	missense	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.chr10:33201009C>G	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.1513G>C	10.37:g.33201009C>G	ENSP00000379350:p.Asp505His					ITGB1_uc001iwp.3_Missense_Mutation_p.D505H|ITGB1_uc001iwq.3_Missense_Mutation_p.D505H|ITGB1_uc001iwr.3_Missense_Mutation_p.D505H|ITGB1_uc001iwt.3_Missense_Mutation_p.D505H|ITGB1_uc001iwu.1_Missense_Mutation_p.D505H	p.D505H	NM_133376	NP_596867	P05556	ITB1_HUMAN			12	1649	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	505			Extracellular (Potential).|I.|Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1513G>C	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069911	0.76301	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	6.07	6.07	0.98685	.	0.045357	0.85682	D	0.000000	D	0.83917	0.5358	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.997;0.999;0.966;0.999	D;P;D;P;D	0.71414	0.942;0.826;0.972;0.849;0.973	T	0.81052	-0.1107	10	0.39692	T	0.17	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	505;505;505;505;505	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	H	505	ENSP00000379350:D505H;ENSP00000388694:D505H;ENSP00000303351:D505H;ENSP00000364094:D505H	ENSP00000303351:D505H	D	-	1	0	ITGB1	33241015	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.940000	0.70187	2.885000	0.99019	0.655000	0.94253	GAT		0.413	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1		NM_002211		13	46	0	0	0	0.013537	0	13	46		
GDF2	2658	broad.mit.edu	37	10	48413872	48413872	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:48413872C>T	ENST00000249598.1	-	2	1155	c.996G>A	c.(994-996)ctG>ctA	p.L332L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	332					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGTTTACCCGCAGGGAGGTCT	0.612																																						uc001jfa.1		NaN																	0				ovary(2)|skin(1)	3						c.(994-996)CTG>CTA		growth differentiation factor 2 precursor							68.0	69.0	68.0					10																	48413872		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413872C>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.996G>A	10.37:g.48413872C>T							p.L332L	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	1159	-			332					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.996G>A	CCDS7219.1																																																																																				0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1		NM_016204		16	81	0	0	0	0.00499	0	16	81		
FRMPD2	143162	broad.mit.edu	37	10	49440294	49440294	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:49440294G>A	ENST00000374201.3	-	10	1334	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	FRMPD2_ENST00000305531.3_Silent_p.L320L|FRMPD2_ENST00000407470.4_Silent_p.L313L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	344	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGACCACACAGAGGTCCCTGA	0.448																																						uc001jgi.2		NaN																	0				large_intestine(1)	1						c.(1030-1032)CTC>CTT		FERM and PDZ domain containing 2 isoform 3							89.0	83.0	85.0					10																	49440294		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49440294G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1032C>T	10.37:g.49440294G>A						FRMPD2_uc001jgh.2_Silent_p.L313L|FRMPD2_uc001jgj.2_Silent_p.L322L	p.L344L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	10	1139	-			344			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.1032C>T	CCDS31195.1																																																																																				0.448	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3		NM_152428		20	46	0	0	0	0.008871	0	20	46		
OGDHL	55753	broad.mit.edu	37	10	50944540	50944540	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:50944540C>G	ENST00000374103.4	-	21	2702	c.2617G>C	c.(2617-2619)Gaa>Caa	p.E873Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.E664Q|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.E816Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	873					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCCCATCTTCAGGAATCACC	0.637																																						uc001jie.2		NaN																	0				pancreas(1)	1						c.(2617-2619)GAA>CAA		oxoglutarate dehydrogenase-like isoform a							47.0	53.0	51.0					10																	50944540		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50944540C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2617G>C	10.37:g.50944540C>G	ENSP00000363216:p.Glu873Gln					OGDHL_uc009xog.2_Missense_Mutation_p.E900Q|OGDHL_uc010qgt.1_Missense_Mutation_p.E816Q|OGDHL_uc010qgu.1_Missense_Mutation_p.E664Q	p.E873Q	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			21	2759	-			873					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2617G>C	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276771	0.80580	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.12039	2.72;2.72;2.72	5.23	4.33	0.51752	.	0.109286	0.64402	D	0.000010	T	0.32763	0.0840	M	0.67953	2.075	0.58432	D	0.999995	D;P;D	0.62365	0.985;0.953;0.991	D;P;D	0.63703	0.913;0.877;0.917	T	0.07481	-1.0770	10	0.87932	D	0	.	13.555	0.61756	0.0:0.9245:0.0:0.0755	.	816;664;873	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Q	873;816;664	ENSP00000363216:E873Q;ENSP00000401356:E816Q;ENSP00000390240:E664Q	ENSP00000363216:E873Q	E	-	1	0	OGDHL	50614546	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.070000	0.71220	1.212000	0.43366	0.484000	0.47621	GAA		0.637	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1		NM_018245		19	71	0	0	0	0.007413	0	19	71		
NCOA4	8031	broad.mit.edu	37	10	51584673	51584673	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:51584673G>C	ENST00000443446.1	+	8	1001	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	NCOA4_ENST00000344348.6_Missense_Mutation_p.E258Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.E258Q|NCOA4_ENST00000452682.1_Missense_Mutation_p.E274Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.E158Q|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.E258Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.E92Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.E274Q	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	258					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AAAGGGCTTAGAAAACTGGCT	0.383			T	RET	papillary thyroid																																	uc001jis.3		NaN		Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid 		0				central_nervous_system(1)|kidney(1)	2						c.(772-774)GAA>CAA		nuclear receptor coactivator 4 isoform 3							60.0	65.0	63.0					10																	51584673		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584673G>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.772G>C	10.37:g.51584673G>C	ENSP00000390713:p.Glu258Gln					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.E274Q|NCOA4_uc010qhd.1_Missense_Mutation_p.E274Q|NCOA4_uc010qhe.1_Missense_Mutation_p.E158Q|NCOA4_uc010qhf.1_Missense_Mutation_p.E92Q|NCOA4_uc001jit.2_Missense_Mutation_p.E258Q|NCOA4_uc009xoo.2_Missense_Mutation_p.E258Q	p.E258Q	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN			8	975	+			258					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.772G>C	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.406698|4.406698	0.83230|0.83230	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.36157|.	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74298|0.74298	0.3698|0.3698	M|M	0.76002|0.76002	2.32|2.32	0.51767|0.51767	D|D	0.999939|0.999939	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.99;0.99;0.994|.	T|T	0.73665|0.73665	-0.3911|-0.3911	10|5	0.62326|.	D|.	0.03|.	-21.2245|-21.2245	13.7134|13.7134	0.62682|0.62682	0.0699:0.0:0.9301:0.0|0.0699:0.0:0.9301:0.0	.|.	158;274;274;258|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	Q|T	274;274;158;258;92;258;258;258|173	ENSP00000405146:E274Q;ENSP00000395465:E274Q;ENSP00000393053:E158Q;ENSP00000363200:E258Q;ENSP00000411018:E92Q;ENSP00000344552:E258Q;ENSP00000363195:E258Q;ENSP00000390713:E258Q|.	ENSP00000344552:E258Q|.	E|R	+|+	1|2	0|0	NCOA4|NCOA4	51254679|51254679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	7.079000|7.079000	0.76829|0.76829	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.383	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1		NM_005437		21	107	0	0	0	0.010504	0	21	107		
ANK3	288	broad.mit.edu	37	10	61926588	61926588	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:61926588C>T	ENST00000280772.2	-	22	2736	c.2545G>A	c.(2545-2547)Gat>Aat	p.D849N	ANK3_ENST00000373827.2_Missense_Mutation_p.D843N|ANK3_ENST00000503366.1_Missense_Mutation_p.D832N|ANK3_ENST00000460468.1_Missense_Mutation_p.D16N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	849					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATACCTTCATCATCAGACATA	0.333																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(2545-2547)GAT>AAT		ankyrin 3 isoform 1							157.0	148.0	151.0					10																	61926588		2202	4299	6501	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61926588C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2545G>A	10.37:g.61926588C>T	ENSP00000280772:p.Asp849Asn					ANK3_uc001jkx.2_Missense_Mutation_p.D27N|ANK3_uc010qih.1_Missense_Mutation_p.D832N|ANK3_uc001jkz.3_Missense_Mutation_p.D843N|ANK3_uc001jlb.1_Missense_Mutation_p.D378N|ANK3_uc001jlc.1_Missense_Mutation_p.D510N	p.D849N	NM_020987	NP_066267	Q12955	ANK3_HUMAN			22	2737	-			849					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2545G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159222	0.94686	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000536348;ENST00000460468;ENST00000474360	T;T;T;T	0.68479	-0.33;2.27;-0.24;2.27	5.42	5.42	0.78866	.	0.000000	0.41605	D	0.000852	T	0.80869	0.4706	M	0.74258	2.255	0.80722	D	1	B;B;P;P;D;D	0.71674	0.041;0.389;0.764;0.858;0.998;0.984	B;B;B;P;P;P	0.61397	0.017;0.269;0.419;0.493;0.863;0.888	T	0.82880	-0.0238	10	0.72032	D	0.01	.	19.2203	0.93793	0.0:1.0:0.0:0.0	.	832;510;393;843;849;84	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955;F5GXK0	.;.;.;.;ANK3_HUMAN;.	N	849;843;832;811;84;510;505;393;16;23	ENSP00000280772:D849N;ENSP00000362933:D843N;ENSP00000425236:D832N;ENSP00000426690:D16N	ENSP00000280772:D849N	D	-	1	0	ANK3	61596594	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.818000	0.86416	2.538000	0.85594	0.650000	0.86243	GAT		0.333	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		24	60	0	0	0	0.004656	0	24	60		
SLC25A16	8034	broad.mit.edu	37	10	70276532	70276532	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:70276532G>A	ENST00000609923.1	-	2	297	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	SLC25A16_ENST00000539557.1_5'UTR|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	67					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TGGTGATTGTGAGCTTGTAAT	0.333																																						uc001joi.2		NaN																	0					0						c.(199-201)CAC>TAC		solute carrier family 25, member 16							136.0	127.0	130.0					10																	70276532		2203	4300	6503	SO:0001583	missense	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70276532G>A	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.199C>T	10.37:g.70276532G>A	ENSP00000476815:p.His67Tyr					SLC25A16_uc010qix.1_5'UTR|SLC25A16_uc010qiy.1_5'UTR|SLC25A16_uc001joj.2_5'UTR	p.H67Y	NM_152707	NP_689920	P16260	GDC_HUMAN			2	651	-			67			Solcar 1.		Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	c.199C>T	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473405	0.84640	.	.	ENSG00000122912	ENST00000265870	T	0.78364	-1.17	5.73	5.73	0.89815	Mitochondrial carrier domain (2);	0.212371	0.51477	D	0.000095	D	0.82356	0.5019	L	0.49126	1.545	0.80722	D	1	P	0.48764	0.915	P	0.54026	0.74	D	0.83578	0.0116	10	0.72032	D	0.01	-2.8359	17.6439	0.88144	0.0:0.0:1.0:0.0	.	67	P16260	GDC_HUMAN	Y	67	ENSP00000265870:H67Y	ENSP00000265870:H67Y	H	-	1	0	SLC25A16	69946538	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.718000	0.84743	2.683000	0.91414	0.655000	0.94253	CAC		0.333	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2				15	33	0	0	0	0.00245	0	15	33		
ANXA11	311	broad.mit.edu	37	10	81932588	81932588	+	Silent	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:81932588T>C	ENST00000438331.1	-	4	512	c.30A>G	c.(28-30)ccA>ccG	p.P10P	ANXA11_ENST00000360615.4_Silent_p.P10P|ANXA11_ENST00000422982.3_Silent_p.P10P|ANXA11_ENST00000535999.1_Silent_p.P10P|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000372231.3_Silent_p.P10P|ANXA11_ENST00000265447.4_Silent_p.P10P|ANXA11_ENST00000463657.1_5'Flank	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	10					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTAGCCACCTGGGGGCGGGG	0.617																																						uc001kbq.1		NaN																	0				ovary(1)	1						c.(28-30)CCA>CCG		annexin A11							77.0	81.0	80.0					10																	81932588		2203	4300	6503	SO:0001819	synonymous_variant	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81932588T>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.30A>G	10.37:g.81932588T>C						ANXA11_uc010qlx.1_5'Flank|ANXA11_uc001kbr.1_Silent_p.P10P|ANXA11_uc001kbs.1_Silent_p.P10P|ANXA11_uc001kbt.1_Silent_p.P10P|ANXA11_uc010qly.1_5'UTR|ANXA11_uc009xsq.1_Silent_p.P10P|ANXA11_uc001kbu.1_Silent_p.P10P	p.P10P	NM_145869	NP_665876	P50995	ANX11_HUMAN	Colorectal(32;0.109)		4	855	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		10					B4DVE7	Silent	SNP	ENST00000438331.1	37	c.30A>G	CCDS7364.1																																																																																				0.617	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1		NM_145869		27	61	0	0	0	0.009535	0	27	61		
BMPR1A	657	broad.mit.edu	37	10	88651946	88651946	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:88651946C>T	ENST00000372037.3	+	5	830	c.293C>T	c.(292-294)tCa>tTa	p.S98L	RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	98					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ACATTAGCTTCAGGGTGTATG	0.363			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	uc001kdy.2		NaN	yes	Rec		Juvenile polyposis	10	10q22.3	657	Mis|N|F	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						c.(292-294)TCA>TTA		bone morphogenetic protein receptor, type IA							87.0	85.0	86.0					10																	88651946		2203	4298	6501	SO:0001583	missense	657	Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88651946C>T	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.293C>T	10.37:g.88651946C>T	ENSP00000361107:p.Ser98Leu						p.S98L	NM_004329	NP_004320	P36894	BMR1A_HUMAN			5	841	+			98			Extracellular (Potential).		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.293C>T	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526327	0.64860	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.97772	-4.53	5.59	5.59	0.84812	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.80616	2.505	0.80722	D	1	P	0.46578	0.88	P	0.54431	0.752	D	0.98012	1.0366	10	0.13470	T	0.59	.	17.7786	0.88517	0.0:1.0:0.0:0.0	.	98	P36894	BMR1A_HUMAN	L	98	ENSP00000361107:S98L	ENSP00000224764:S98L	S	+	2	0	BMPR1A	88641926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.135000	0.77276	2.650000	0.89964	0.555000	0.69702	TCA		0.363	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3		NM_004329		9	28	0	0	0	0.004482	0	9	28		
IFIT2	3433	broad.mit.edu	37	10	91066692	91066692	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:91066692G>A	ENST00000371826.3	+	2	1148	c.979G>A	c.(979-981)Gat>Aat	p.D327N	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	327					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GAAGAAAGCTGATGAGGCCAA	0.418																																						uc009xts.2		NaN																	0				ovary(1)|skin(1)	2						c.(979-981)GAT>AAT		interferon-induced protein with							67.0	65.0	66.0					10																	91066692		1923	4140	6063	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066692G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.979G>A	10.37:g.91066692G>A	ENSP00000360891:p.Asp327Asn					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.D327N	NM_001547	NP_001538	P09913	IFIT2_HUMAN			2	1154	+		Colorectal(252;0.0161)	327					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.979G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444945	0.63178	.	.	ENSG00000119922	ENST00000371826	T	0.37235	1.21	4.58	2.67	0.31697	Tetratricopeptide-like helical (1);	0.529823	0.17773	U	0.162520	T	0.19604	0.0471	L	0.29908	0.895	0.09310	N	1	P	0.38922	0.651	B	0.32805	0.153	T	0.08472	-1.0720	10	0.23891	T	0.37	-1.7633	5.9536	0.19261	0.1851:0.164:0.6509:0.0	.	327	P09913	IFIT2_HUMAN	N	327	ENSP00000360891:D327N	ENSP00000360891:D327N	D	+	1	0	IFIT2	91056672	0.001000	0.12720	0.013000	0.15412	0.595000	0.36748	0.951000	0.29135	0.817000	0.34445	0.655000	0.94253	GAT		0.418	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1		NM_001547		6	58	0	0	0	0.001168	0	6	58		
KIF20B	9585	broad.mit.edu	37	10	91469117	91469117	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:91469117C>T	ENST00000371728.3	+	4	315	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	KIF20B_ENST00000260753.4_Silent_p.L84L|KIF20B_ENST00000394289.2_Silent_p.L84L|KIF20B_ENST00000416354.1_Silent_p.L84L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	84	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGTGCATATTCTGGATTCACA	0.348																																						uc001kgs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(250-252)CTG>TTG		M-phase phosphoprotein 1							124.0	122.0	123.0					10																	91469117		2203	4300	6503	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91469117C>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.250C>T	10.37:g.91469117C>T						KIF20B_uc001kgr.1_Silent_p.L84L	p.L84L	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			4	322	+			84			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.250C>T																																																																																					0.348	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195		61	44	0	0	0	0.01441	0	61	44		
SORBS1	10580	broad.mit.edu	37	10	97096663	97096663	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:97096663G>A	ENST00000361941.3	-	28	3280	c.3254C>T	c.(3253-3255)tCa>tTa	p.S1085L	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.S1085L|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S1039L|SORBS1_ENST00000393949.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTGGATGCCTGAAGATGGCGT	0.562																																						uc001kkp.2		NaN																	0				breast(1)	1						c.(3253-3255)TCA>TTA		sorbin and SH3 domain containing 1 isoform 3							114.0	108.0	110.0					10																	97096663		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096663G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3254C>T	10.37:g.97096663G>A	ENSP00000355136:p.Ser1085Leu					SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.S1039L|SORBS1_uc010qoe.1_Intron	p.S1085L	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	28	3299	-		Colorectal(252;0.0429)	1085						Missense_Mutation	SNP	ENST00000361941.3	37	c.3254C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	7.420	0.636628	0.14386	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.08634	3.15;3.07;3.15	4.97	4.97	0.65823	.	1.250850	0.05975	N	0.643004	T	0.07098	0.0180	N	0.19112	0.55	0.42985	D	0.994473	B;B	0.19706	0.038;0.009	B;B	0.12837	0.008;0.004	T	0.31223	-0.9951	10	0.33940	T	0.23	3.2981	7.7529	0.28907	0.0816:0.0:0.7554:0.163	.	1039;1085	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	L	1085;1039;1085	ENSP00000360293:S1085L;ENSP00000360271:S1039L;ENSP00000355136:S1085L	ENSP00000355136:S1085L	S	-	2	0	SORBS1	97086653	0.016000	0.18221	0.007000	0.13788	0.200000	0.23975	1.938000	0.40203	2.321000	0.78463	0.561000	0.74099	TCA		0.562	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1				5	27	0	0	0	0.000602	0	5	27		
SORBS1	10580	broad.mit.edu	37	10	97101052	97101052	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:97101052G>A	ENST00000361941.3	-	26	2686	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F	SORBS1_ENST00000607232.1_Missense_Mutation_p.S1147F|SORBS1_ENST00000354106.3_Missense_Mutation_p.S857F|SORBS1_ENST00000353505.5_Missense_Mutation_p.S738F|SORBS1_ENST00000371246.2_Missense_Mutation_p.S909F|SORBS1_ENST00000474353.2_5'Flank|SORBS1_ENST00000347291.4_Missense_Mutation_p.S699F|SORBS1_ENST00000371247.2_Missense_Mutation_p.S887F|SORBS1_ENST00000371245.3_Missense_Mutation_p.S738F|SORBS1_ENST00000371241.1_Missense_Mutation_p.S537F|SORBS1_ENST00000371239.1_Missense_Mutation_p.S664F|SORBS1_ENST00000306402.6_Missense_Mutation_p.S634F|SORBS1_ENST00000371249.2_Missense_Mutation_p.S669F|SORBS1_ENST00000277982.5_Missense_Mutation_p.S909F|SORBS1_ENST00000371227.4_Missense_Mutation_p.S841F|SORBS1_ENST00000393949.1_Missense_Mutation_p.S857F	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTTTCTGAAGGACATTTCTAC	0.468																																						uc001kkp.2		NaN																	0				breast(1)	1						c.(2659-2661)TCC>TTC		sorbin and SH3 domain containing 1 isoform 3							166.0	155.0	159.0					10																	97101052		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97101052G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2660C>T	10.37:g.97101052G>A	ENSP00000355136:p.Ser887Phe					SORBS1_uc001kkk.2_Missense_Mutation_p.S381F|SORBS1_uc001kkl.2_Missense_Mutation_p.S489F|SORBS1_uc001kkn.2_Missense_Mutation_p.S652F|SORBS1_uc001kkm.2_Missense_Mutation_p.S687F|SORBS1_uc001kko.2_Missense_Mutation_p.S909F|SORBS1_uc001kkq.2_Missense_Mutation_p.S738F|SORBS1_uc001kkr.2_Missense_Mutation_p.S593F|SORBS1_uc001kks.2_Missense_Mutation_p.S537F|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.S634F|SORBS1_uc001kkv.2_Missense_Mutation_p.S669F|SORBS1_uc001kkw.2_Missense_Mutation_p.S841F|SORBS1_uc010qoe.1_Missense_Mutation_p.S602F	p.S887F	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	26	2705	-		Colorectal(252;0.0429)	887			SH3 2.			Missense_Mutation	SNP	ENST00000361941.3	37	c.2660C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863356	0.91511	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.82	5.82	0.92795	Src homology-3 domain (4);	0.000000	0.39834	N	0.001254	T	0.77711	0.4171	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;P	0.89917	0.994;1.0;0.994;1.0;0.967;0.999;1.0;0.994;0.999;0.979;0.999;0.885	D;D;D;D;P;D;D;D;D;D;D;P	0.97110	0.99;0.999;0.943;0.999;0.815;0.998;1.0;0.997;0.999;0.955;0.999;0.833	D	0.84279	0.0493	10	0.87932	D	0	-14.5506	20.1008	0.97874	0.0:0.0:1.0:0.0	.	602;841;669;634;537;664;738;887;909;699;857;381	B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	F	738;634;669;887;841;909;857;738;699;887;909;537;857;664	ENSP00000360291:S738F;ENSP00000302556:S634F;ENSP00000360295:S669F;ENSP00000360293:S887F;ENSP00000360271:S841F;ENSP00000360292:S909F;ENSP00000377521:S857F;ENSP00000343998:S738F;ENSP00000277985:S699F;ENSP00000355136:S887F;ENSP00000277982:S909F;ENSP00000360285:S537F;ENSP00000277984:S857F;ENSP00000360283:S664F	ENSP00000277982:S909F	S	-	2	0	SORBS1	97091042	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.756000	0.94617	0.563000	0.77884	TCC		0.468	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1				6	98	0	0	0	0.001168	0	6	98		
C10orf12	26148	broad.mit.edu	37	10	98742417	98742417	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:98742417G>C	ENST00000286067.2	+	1	1377	c.1270G>C	c.(1270-1272)Gag>Cag	p.E424Q		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	424										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCTGAGGTTGAGTCTGGAGA	0.512																																						uc001kmv.2		NaN																	0				skin(2)	2						c.(1270-1272)GAG>CAG		hypothetical protein LOC26148							152.0	166.0	161.0					10																	98742417		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98742417G>C	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1270G>C	10.37:g.98742417G>C	ENSP00000286067:p.Glu424Gln					C10orf12_uc009xvg.1_Missense_Mutation_p.E734Q	p.E424Q	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	1377	+		Colorectal(252;0.172)	424					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1270G>C	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708882	0.30322	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07444	3.19	5.82	-8.96	0.00761	.	1.275290	0.05901	N	0.629974	T	0.04363	0.0120	L	0.29908	0.895	0.09310	N	1	B;B	0.22146	0.065;0.023	B;B	0.13407	0.009;0.009	T	0.38090	-0.9677	10	0.23302	T	0.38	1.9705	4.4738	0.11726	0.5231:0.1683:0.224:0.0847	.	258;424	A0PJI9;Q8N655	.;CJ012_HUMAN	Q	424;258	ENSP00000286067:E424Q	ENSP00000286067:E424Q	E	+	1	0	C10orf12	98732407	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.356000	0.02609	-1.398000	0.02066	0.561000	0.74099	GAG		0.512	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1		NM_015652		10	150	0	0	0	0.008291	0	10	150		
FAM178A	55719	broad.mit.edu	37	10	102689105	102689105	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:102689105G>T	ENST00000238961.4	+	7	2616	c.2074G>T	c.(2074-2076)Gac>Tac	p.D692Y	FAM178A_ENST00000370269.3_Missense_Mutation_p.D692Y	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	692						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ACTACAAGAAGACATAAGGCA	0.363																																						uc001krt.3		NaN																	0					0						c.(2074-2076)GAC>TAC		hypothetical protein LOC55719 isoform 1							87.0	83.0	84.0					10																	102689105		2203	4299	6502	SO:0001583	missense	55719							g.chr10:102689105G>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2074G>T	10.37:g.102689105G>T	ENSP00000238961:p.Asp692Tyr					FAM178A_uc001krs.2_Missense_Mutation_p.D692Y	p.D692Y	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			7	2616	+			692					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.2074G>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975944	0.74360	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.44482	0.93;0.92	5.74	5.74	0.90152	.	0.175536	0.48286	D	0.000189	T	0.59432	0.2193	L	0.54323	1.7	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.50642	-0.8804	10	0.26408	T	0.33	-13.7186	16.6529	0.85221	0.0:0.0:1.0:0.0	.	692;692	Q8IX21;B1AL17	F178A_HUMAN;.	Y	692	ENSP00000238961:D692Y;ENSP00000359292:D692Y	ENSP00000238961:D692Y	D	+	1	0	FAM178A	102679095	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	4.167000	0.58209	2.717000	0.92951	0.563000	0.77884	GAC		0.363	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3				16	10	1	0	1.5739e-10	0.004007	1.67292e-10	16	10		
SEMA4G	57715	broad.mit.edu	37	10	102740934	102740934	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:102740934G>C	ENST00000370250.4	+	13	2011	c.1638G>C	c.(1636-1638)ctG>ctC	p.L546L	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Silent_p.L551L|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Silent_p.L551L|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	546	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GGACAGCACTGATACAGGACA	0.473																																						uc001krw.1		NaN																	0				breast(1)	1						c.(1651-1653)CTG>CTC		semaphorin 4G							126.0	105.0	112.0					10																	102740934		2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102740934G>C	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1638G>C	10.37:g.102740934G>C						SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Silent_p.L551L|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	p.L551L	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	13	2037	+		Colorectal(252;0.234)	546			Extracellular (Potential).|PSI.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.1653G>C																																																																																					0.473	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2				5	35	0	0	0	0.000602	0	5	35		
SFXN4	119559	broad.mit.edu	37	10	120923669	120923669	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:120923669C>G	ENST00000355697.2	-	2	170	c.151G>C	c.(151-153)Gat>Cat	p.D51H	SFXN4_ENST00000330036.6_Missense_Mutation_p.D51H|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	51					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TTTGTAGGATCTAATAATTCT	0.318																																						uc001leb.2		NaN																	0				ovary(1)	1						c.(151-153)GAT>CAT		sideroflexin 4							83.0	91.0	88.0					10																	120923669		2203	4299	6502	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120923669C>G		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.151G>C	10.37:g.120923669C>G	ENSP00000347924:p.Asp51His					SFXN4_uc001ldz.2_5'UTR|SFXN4_uc001lea.2_RNA	p.D51H	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	2	196	-		Lung NSC(174;0.094)|all_lung(145;0.123)	51					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.151G>C	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067062	0.36470	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.37058	1.22;1.22	3.97	3.97	0.46021	.	0.067924	0.56097	D	0.000034	T	0.54143	0.1840	M	0.65498	2.005	0.50813	D	0.999892	D	0.69078	0.997	D	0.67382	0.951	T	0.58446	-0.7635	10	0.87932	D	0	-15.2872	11.8003	0.52122	0.0:1.0:0.0:0.0	.	51	Q6P4A7	SFXN4_HUMAN	H	51	ENSP00000347924:D51H;ENSP00000333200:D51H	ENSP00000333200:D51H	D	-	1	0	SFXN4	120913659	1.000000	0.71417	0.976000	0.42696	0.217000	0.24651	3.283000	0.51701	2.239000	0.73571	0.449000	0.29647	GAT		0.318	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3		XM_058406		49	30	0	0	0	0.01441	0	49	30		
PSMA1	5682	broad.mit.edu	37	11	14529258	14529258	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:14529258C>T	ENST00000396394.2	-	9	1075	c.679G>A	c.(679-681)Gat>Aat	p.D227N	PSMA1_ENST00000530457.1_Missense_Mutation_p.D202N|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.D233N|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.D227N|PSMA1_ENST00000555531.1_3'UTR	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	227					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						GACACATCATCATCATCATAG	0.353																																						uc001mlk.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(679-681)GAT>AAT		proteasome alpha 1 subunit isoform 2							142.0	129.0	134.0					11																	14529258		2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14529258C>T	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.679G>A	11.37:g.14529258C>T	ENSP00000379676:p.Asp227Asn					PSMA1_uc001mll.2_Missense_Mutation_p.D233N|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Missense_Mutation_p.D202N	p.D227N	NM_002786	NP_002777	P25786	PSA1_HUMAN			9	825	-			227					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.679G>A	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919267	0.73098	.	.	ENSG00000129084	ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.38	5.38	0.77491	.	0.088209	0.85682	D	0.000000	T	0.42200	0.1192	L	0.46157	1.445	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.003	T	0.25676	-1.0125	10	0.56958	D	0.05	-27.9193	19.4813	0.95011	0.0:1.0:0.0:0.0	.	233;227	P25786-2;P25786	.;PSA1_HUMAN	N	227;227;202;233	ENSP00000379676:D227N;ENSP00000379675:D227N;ENSP00000441166:D202N;ENSP00000414359:D233N	ENSP00000379675:D227N	D	-	1	0	PSMA1	14485834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.462000	0.66707	2.677000	0.91161	0.561000	0.74099	GAT		0.353	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3		NM_002786		26	21	0	0	0	0.007291	0	26	21		
INSC	387755	broad.mit.edu	37	11	15199878	15199878	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:15199878A>C	ENST00000379554.3	+	5	651	c.605A>C	c.(604-606)cAg>cCg	p.Q202P	INSC_ENST00000424273.1_Missense_Mutation_p.Q155P|INSC_ENST00000525218.1_Missense_Mutation_p.Q155P|INSC_ENST00000528567.1_Missense_Mutation_p.Q155P|INSC_ENST00000379556.3_Missense_Mutation_p.Q155P|INSC_ENST00000530161.1_Missense_Mutation_p.Q155P	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	202					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGTGCCTTCAGGTTGAGAAT	0.572																																						uc001mly.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(604-606)CAG>CCG		inscuteable isoform a							114.0	112.0	112.0					11																	15199878		1956	4152	6108	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15199878A>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.605A>C	11.37:g.15199878A>C	ENSP00000368872:p.Gln202Pro					INSC_uc001mlz.2_Missense_Mutation_p.Q155P|INSC_uc001mma.2_Missense_Mutation_p.Q155P|INSC_uc010rcs.1_Missense_Mutation_p.Q155P|INSC_uc001mmb.2_Missense_Mutation_p.Q155P|INSC_uc001mmc.2_Missense_Mutation_p.Q155P	p.Q202P	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			5	651	+			202					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.605A>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618191	0.46736	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.32753	1.44;1.46;1.44;1.45;1.46;1.44	5.41	5.41	0.78517	Armadillo-type fold (1);	0.168649	0.53938	D	0.000048	T	0.28167	0.0695	L	0.29908	0.895	0.45852	D	0.998713	D;P;P;P	0.53619	0.961;0.65;0.898;0.898	P;B;B;B	0.47206	0.541;0.201;0.354;0.354	T	0.03773	-1.1005	10	0.59425	D	0.04	-21.4404	10.6535	0.45661	0.857:0.0:0.0:0.143	.	155;155;155;202	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	P	202;155;155;155;155;155;155	ENSP00000368872:Q202P;ENSP00000368874:Q155P;ENSP00000389161:Q155P;ENSP00000435022:Q155P;ENSP00000436194:Q155P;ENSP00000436113:Q155P	ENSP00000368872:Q202P	Q	+	2	0	INSC	15156454	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.110000	0.71535	2.051000	0.60960	0.459000	0.35465	CAG		0.572	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1		NM_001031853		31	15	0	0	0	0.012213	0	31	15		
SPTY2D1	144108	broad.mit.edu	37	11	18636604	18636604	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:18636604G>C	ENST00000336349.5	-	3	1452	c.1217C>G	c.(1216-1218)tCa>tGa	p.S406*	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	406	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTCAGGTCCTGAGCTGGAGCT	0.592																																						uc001moy.2		NaN																	0				breast(1)	1						c.(1216-1218)TCA>TGA		SPT2, Suppressor of Ty, domain containing 1							54.0	53.0	53.0					11																	18636604		2199	4293	6492	SO:0001587	stop_gained	144108							g.chr11:18636604G>C	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1217C>G	11.37:g.18636604G>C	ENSP00000337991:p.Ser406*					SPTY2D1_uc010rdi.1_Nonsense_Mutation_p.S406*	p.S406*	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	1433	-			406			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Nonsense_Mutation	SNP	ENST00000336349.5	37	c.1217C>G	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	37	6.128892	0.97310	.	.	ENSG00000179119	ENST00000336349	.	.	.	5.43	3.53	0.40419	.	0.227351	0.35708	N	0.003032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-2.4869	11.0483	0.47872	0.0694:0.1295:0.8011:0.0	.	.	.	.	X	406	.	ENSP00000337991:S406X	S	-	2	0	SPTY2D1	18593180	0.013000	0.17824	1.000000	0.80357	0.984000	0.73092	0.225000	0.17757	0.833000	0.34828	0.563000	0.77884	TCA		0.592	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1		NM_194285		11	70	0	0	0	0.008291	0	11	70		
SLC17A6	57084	broad.mit.edu	37	11	22360119	22360119	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:22360119G>A	ENST00000263160.3	+	1	477	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CTD-2140G10.2_ENST00000530569.1_RNA|CTD-2140G10.2_ENST00000531304.1_RNA|CTD-2140G10.2_ENST00000528009.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	14					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.E14K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCCAGGAAAAGAGGGGCTAAA	0.438																																						uc001mqk.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(40-42)GAG>AAG		solute carrier family 17 (sodium-dependent							70.0	74.0	73.0					11																	22360119		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22360119G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.40G>A	11.37:g.22360119G>A	ENSP00000263160:p.Glu14Lys						p.E14K	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			1	453	+			14			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.40G>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226673	0.79576	.	.	ENSG00000091664	ENST00000263160	T	0.63255	-0.03	5.27	5.27	0.74061	.	0.049302	0.85682	D	0.000000	T	0.64713	0.2623	M	0.62723	1.935	0.58432	D	0.999993	P	0.35527	0.507	B	0.38327	0.271	T	0.65348	-0.6190	10	0.41790	T	0.15	.	18.9139	0.92496	0.0:0.0:1.0:0.0	.	14	Q9P2U8	VGLU2_HUMAN	K	14	ENSP00000263160:E14K	ENSP00000263160:E14K	E	+	1	0	SLC17A6	22316695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.465000	0.83290	0.655000	0.94253	GAG		0.438	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1		NM_020346		14	24	0	0	0	0.00499	0	14	24		
LUZP2	338645	broad.mit.edu	37	11	24759813	24759813	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:24759813G>A	ENST00000336930.6	+	4	364	c.298G>A	c.(298-300)Gag>Aag	p.E100K	LUZP2_ENST00000533227.1_Missense_Mutation_p.E14K|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	100						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCAGCTTAAGGAGACATCAGA	0.363																																						uc001mqs.2		NaN																	0				ovary(1)|skin(1)	2						c.(298-300)GAG>AAG		leucine zipper protein 2 precursor							82.0	84.0	83.0					11																	24759813		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:24759813G>A	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.298G>A	11.37:g.24759813G>A	ENSP00000336817:p.Glu100Lys					LUZP2_uc009yif.2_Missense_Mutation_p.E14K|LUZP2_uc009yig.2_Missense_Mutation_p.E100K	p.E100K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			4	532	+			100			Potential.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.298G>A	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014553	0.93404	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.33865	1.39;1.39;1.39	5.77	5.77	0.91146	.	0.058793	0.64402	D	0.000004	T	0.58409	0.2120	L	0.56769	1.78	0.39836	D	0.973036	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.60182	-0.7313	10	0.72032	D	0.01	-19.4452	17.4594	0.87616	0.0:0.0:1.0:0.0	.	14;100	E9PN53;Q86TE4	.;LUZP2_HUMAN	K	100;100;14	ENSP00000336817:E100K;ENSP00000437032:E100K;ENSP00000432952:E14K	ENSP00000336817:E100K	E	+	1	0	LUZP2	24716389	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.689000	0.84165	2.725000	0.93324	0.655000	0.94253	GAG		0.363	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1		NM_001009909		6	20	0	0	0	0.00308	0	6	20		
COMMD9	29099	broad.mit.edu	37	11	36302292	36302292	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:36302292G>A	ENST00000263401.5	-	2	163	c.147C>T	c.(145-147)agC>agT	p.S49S	COMMD9_ENST00000452374.2_Intron|COMMD9_ENST00000532705.1_Silent_p.S49S	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	49										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TCACAGACAAGCTGGAACATG	0.468																																						uc001mwn.3		NaN																	0				ovary(1)	1						c.(145-147)AGC>AGT		COMM domain containing 9 isoform 1							122.0	115.0	117.0					11																	36302292		2202	4298	6500	SO:0001819	synonymous_variant	29099							g.chr11:36302292G>A	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.147C>T	11.37:g.36302292G>A						COMMD9_uc009ykj.2_Intron|COMMD9_uc010rfb.1_Silent_p.S49S	p.S49S	NM_014186	NP_054905	Q9P000	COMD9_HUMAN			2	184	-	all_lung(20;0.211)	all_hematologic(20;0.107)	49					E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	ENST00000263401.5	37	c.147C>T	CCDS7900.1																																																																																				0.468	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1		NM_014186		6	68	0	0	0	0.001168	0	6	68		
ACCS	84680	broad.mit.edu	37	11	44098828	44098828	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:44098828G>A	ENST00000263776.8	+	7	990		c.e7-1		ACCS_ENST00000533208.1_Intron|ACCS_ENST00000432284.2_Splice_Site	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CCTGCCCCCAGAGGCTTTCCT	0.577																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.e7-1		1-aminocyclopropane-1-carboxylate synthase							155.0	145.0	149.0					11																	44098828		2203	4300	6503	SO:0001630	splice_region_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44098828G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.557-1G>A	11.37:g.44098828G>A						EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_Splice_Site|ACCS_uc001mxx.2_Splice_Site_p.E186_splice	p.E186_splice	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			7	701	+								B4E219|Q8WUL4|Q96LX5	Splice_Site	SNP	ENST00000263776.8	37	c.557_splice	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934268	0.73442	.	.	ENSG00000110455	ENST00000263776	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9597	0.79918	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCS	44055404	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.431000	0.80335	2.371000	0.80710	0.557000	0.71058	.		0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1		NM_032592	Intron	21	91	0	0	0	0.012319	0	21	91		
OR5T1	390155	broad.mit.edu	37	11	56043601	56043601	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:56043601G>A	ENST00000313033.2	+	1	573	c.487G>A	c.(487-489)Gct>Act	p.A163T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTCCTATGTTGCTAGCATTTT	0.428																																						uc001nio.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(487-489)GCT>ACT		olfactory receptor, family 5, subfamily T,							273.0	233.0	247.0					11																	56043601		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043601G>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.487G>A	11.37:g.56043601G>A	ENSP00000323612:p.Ala163Thr						p.A163T	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	487	+	Esophageal squamous(21;0.00448)		163			Helical; Name=4; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.487G>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	5.724	0.318112	0.10845	.	.	ENSG00000181698	ENST00000313033	T	0.37411	1.2	3.44	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	1.075150	0.07345	N	0.881506	T	0.23289	0.0563	N	0.21448	0.665	0.09310	N	1	B	0.14012	0.009	B	0.25759	0.063	T	0.35425	-0.9789	10	0.23302	T	0.38	.	7.9182	0.29831	0.0959:0.0:0.1971:0.707	.	163	Q8NG75	OR5T1_HUMAN	T	163	ENSP00000323612:A163T	ENSP00000323612:A163T	A	+	1	0	OR5T1	55800177	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.532000	0.06164	-0.075000	0.12798	-0.571000	0.04153	GCT		0.428	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1		NM_001004745		101	170	0	0	0	0.01441	0	101	170		
PCNXL3	399909	broad.mit.edu	37	11	65393495	65393495	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:65393495C>T	ENST00000355703.3	+	20	3888	c.3349C>T	c.(3349-3351)Ccg>Tcg	p.P1117S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1117						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGTGCTGAAGCCGCTGGAGTA	0.647											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oey.2		NaN																	0					0						c.(3349-3351)CCG>TCG		pecanex-like 3							26.0	31.0	30.0					11																	65393495		2129	4243	6372	SO:0001583	missense	399909					integral to membrane		g.chr11:65393495C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3349C>T	11.37:g.65393495C>T	ENSP00000347931:p.Pro1117Ser		OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	PCNXL3_uc009yqn.2_Missense_Mutation_p.P77S|PCNXL3_uc001oez.2_5'Flank	p.P1117S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			20	3349	+			1117					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3349C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	5.486	0.274776	0.10403	.	.	ENSG00000197136	ENST00000355703	T	0.05199	3.48	5.3	4.27	0.50696	.	.	.	.	.	T	0.01156	0.0038	N	0.00182	-1.905	0.33584	D	0.600286	B	0.09022	0.002	B	0.04013	0.001	T	0.37596	-0.9699	9	0.02654	T	1	.	3.6703	0.08272	0.2466:0.6107:0.0:0.1427	.	1117	Q9H6A9	PCX3_HUMAN	S	1117	ENSP00000347931:P1117S	ENSP00000347931:P1117S	P	+	1	0	PCNXL3	65150071	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.072000	0.41510	2.490000	0.84030	0.655000	0.94253	CCG		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223		3	13	0	0	0	0.004672	0	3	13		
SIPA1	6494	broad.mit.edu	37	11	65412521	65412521	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:65412521C>T	ENST00000394224.3	+	5	1376	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	SIPA1_ENST00000527525.1_Silent_p.F360F|SIPA1_ENST00000534313.1_Silent_p.F360F|SIPA1_ENST00000394227.3_Silent_p.F360F	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	360	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GACCGGCCTTCATGCAGTTTC	0.622																																						uc001ofb.2		NaN																	0					0						c.(1078-1080)TTC>TTT		signal-induced proliferation-associated protein							130.0	121.0	124.0					11																	65412521		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65412521C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1080C>T	11.37:g.65412521C>T						SIPA1_uc010rom.1_Silent_p.F360F|SIPA1_uc001ofd.2_Silent_p.F360F	p.F360F	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN			5	1247	+			360			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.1080C>T	CCDS8108.1																																																																																				0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1		NM_006747		25	107	0	0	0	0.003954	0	25	107		
CCDC87	55231	broad.mit.edu	37	11	66360334	66360334	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:66360334C>T	ENST00000333861.3	-	1	220	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'UTR	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	51					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCGTCAGCTTCGCCAGAGGGA	0.677											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oiq.3		NaN																	0				ovary(1)|skin(1)	2						c.(151-153)GCG>GCA		coiled-coil domain containing 87							22.0	25.0	24.0					11																	66360334		2183	4239	6422	SO:0001819	synonymous_variant	55231							g.chr11:66360334C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.153G>A	11.37:g.66360334C>T			OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1091	CCS_uc001oir.2_5'Flank	p.A51A	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	221	-			51					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.153G>A	CCDS8145.1																																																																																				0.677	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1		NM_018219		4	49	0	0	0	0.009096	0	4	49		
SPTBN2	6712	broad.mit.edu	37	11	66456633	66456633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:66456633G>A	ENST00000533211.1	-	30	6299	c.5968C>T	c.(5968-5970)Cag>Tag	p.Q1990*	SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.Q1990*|SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.Q1990*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1990					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTGCAGCTGAGACAGCTTC	0.632																																						uc001ojd.2		NaN																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5968-5970)CAG>TAG		spectrin, beta, non-erythrocytic 2							20.0	19.0	19.0					11																	66456633		2199	4294	6493	SO:0001587	stop_gained	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66456633G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5968C>T	11.37:g.66456633G>A	ENSP00000432568:p.Gln1990*					SPTBN2_uc001ojc.1_5'Flank	p.Q1990*	NM_006946	NP_008877	O15020	SPTN2_HUMAN			29	6040	-			1990			Spectrin 16.		O14872|O14873	Nonsense_Mutation	SNP	ENST00000533211.1	37	c.5968C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	48	14.765605	0.99809	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5852	0.87979	0.0:0.0:1.0:0.0	.	.	.	.	X	1990	.	ENSP00000311489:Q1990X	Q	-	1	0	SPTBN2	66213209	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.489000	0.53237	2.696000	0.92011	0.655000	0.94253	CAG		0.632	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946		3	14	0	0	0	0.009096	0	3	14		
SSH3	54961	broad.mit.edu	37	11	67075889	67075889	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:67075889G>C	ENST00000308127.4	+	10	1199	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.E341Q|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	341	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCAGGGCTCAGAGTGGAACGC	0.657																																						uc001okj.2		NaN																	0				ovary(1)	1						c.(1021-1023)GAG>CAG		slingshot homolog 3							78.0	55.0	63.0					11																	67075889		2200	4293	6493	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67075889G>C	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1021G>C	11.37:g.67075889G>C	ENSP00000312081:p.Glu341Gln					SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.E195Q	p.E341Q	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1199	+			341			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.1021G>C	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378670	0.61735	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	D;D;T	0.85955	-2.05;-2.05;0.3	4.98	4.02	0.46733	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000009	D	0.89795	0.6818	L	0.54908	1.71	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.90045	0.4145	10	0.59425	D	0.04	-26.8852	14.4492	0.67372	0.0:0.1476:0.8524:0.0	.	195;341	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Q	341;341;93	ENSP00000312081:E341Q;ENSP00000365948:E341Q;ENSP00000433902:E93Q	ENSP00000312081:E341Q	E	+	1	0	SSH3	66832465	1.000000	0.71417	0.985000	0.45067	0.359000	0.29487	6.254000	0.72460	2.595000	0.87683	0.561000	0.74099	GAG		0.657	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1		NM_018276		7	23	0	0	0	0.00308	0	7	23		
MRGPRF	116535	broad.mit.edu	37	11	68773711	68773711	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:68773711C>T	ENST00000309099.6	-	3	449	c.67G>A	c.(67-69)Gag>Aag	p.E23K	MRGPRF_ENST00000441623.1_Missense_Mutation_p.E23K|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E23*(1)		endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCGGGGCCTCGCTCAGGCCA	0.667																																						uc001ooo.3		NaN																	1	Substitution - Nonsense(1)		lung(1)		0						c.(67-69)GAG>AAG		MAS-related GPR, member F							29.0	34.0	32.0					11																	68773711		2200	4294	6494	SO:0001583	missense	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68773711C>T	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.67G>A	11.37:g.68773711C>T	ENSP00000309782:p.Glu23Lys					MRGPRF_uc001oop.3_Missense_Mutation_p.E23K	p.E23K	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	434	-			23			Extracellular (Potential).		B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	c.67G>A	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024891	0.54683	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.05447	3.44;3.44	4.35	4.35	0.52113	.	0.150917	0.30658	N	0.009148	T	0.10852	0.0265	N	0.19112	0.55	0.29856	N	0.828069	D	0.76494	0.999	D	0.71184	0.972	T	0.10823	-1.0613	10	0.21014	T	0.42	-24.6112	12.2679	0.54689	0.0:1.0:0.0:0.0	.	23	Q96AM1	MRGRF_HUMAN	K	23	ENSP00000403660:E23K;ENSP00000309782:E23K	ENSP00000309782:E23K	E	-	1	0	MRGPRF	68530287	0.000000	0.05858	0.896000	0.35187	0.304000	0.27724	0.261000	0.18442	2.261000	0.74972	0.561000	0.74099	GAG		0.667	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1		NM_145015		16	36	0	0	0	0.004007	0	16	36		
TPCN2	219931	broad.mit.edu	37	11	68838873	68838873	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:68838873C>T	ENST00000294309.3	+	10	1046	c.945C>T	c.(943-945)ttC>ttT	p.F315F	TPCN2_ENST00000542467.1_Silent_p.F315F|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	315					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACAGTCAGTTCCGGGGCTACC	0.597																																						uc001oos.2		NaN																	0					0						c.(943-945)TTC>TTT		two pore segment channel 2							99.0	84.0	89.0					11																	68838873		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68838873C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.945C>T	11.37:g.68838873C>T						TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Silent_p.F230F|TPCN2_uc010rqg.1_Silent_p.F315F|TPCN2_uc001oot.2_5'Flank	p.F315F	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		10	1061	+			315			Cytoplasmic (Potential).		Q9NT82	Silent	SNP	ENST00000294309.3	37	c.945C>T	CCDS8189.1																																																																																				0.597	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2		NM_139075		3	11	0	0	0	0.009096	0	3	11		
PPFIA1	8500	broad.mit.edu	37	11	70200458	70200458	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:70200458G>A	ENST00000253925.7	+	17	2430	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.E739K	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	739					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.E739K(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CATAAAGTGTGAAACCTCCCC	0.532																																						uc001opo.2		NaN																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(2215-2217)GAA>AAA		PTPRF interacting protein alpha 1 isoform b							86.0	77.0	80.0					11																	70200458		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70200458G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2215G>A	11.37:g.70200458G>A	ENSP00000253925:p.Glu739Lys					PPFIA1_uc001opn.1_Missense_Mutation_p.E739K|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.E739K	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		17	2413	+			739					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.2215G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554414	0.96501	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.26810	1.71;1.71	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.68317	2.08	0.80722	D	1	P;P	0.50819	0.813;0.939	P;P	0.54544	0.573;0.755	T	0.44406	-0.9330	10	0.66056	D	0.02	.	18.1276	0.89591	0.0:0.0:1.0:0.0	.	739;739	Q13136;Q13136-2	LIPA1_HUMAN;.	K	739;739;236	ENSP00000253925:E739K;ENSP00000374198:E739K	ENSP00000253925:E739K	E	+	1	0	PPFIA1	69878106	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.384000	0.97219	2.526000	0.85167	0.561000	0.74099	GAA		0.532	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626		5	50	0	0	0	0.000602	0	5	50		
C2CD3	26005	broad.mit.edu	37	11	73825601	73825601	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:73825601C>T	ENST00000334126.7	-	10	1784	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E520K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	520					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGGCATCTTCTGGAGTTTCT	0.443																																						uc001ouu.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1558-1560)GAA>AAA		C2 calcium-dependent domain containing 3							163.0	136.0	145.0					11																	73825601		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73825601C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1558G>A	11.37:g.73825601C>T	ENSP00000334379:p.Glu520Lys					C2CD3_uc001ouv.2_Missense_Mutation_p.E520K	p.E520K	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			10	1785	-	Breast(11;4.16e-06)		520					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1558G>A		.	.	.	.	.	.	.	.	.	.	C	8.575	0.880891	0.17467	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.10382	2.88;2.89	6.07	2.59	0.31030	.	0.458590	0.24098	N	0.041576	T	0.07683	0.0193	L	0.29908	0.895	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.11329	0.006;0.006	T	0.26052	-1.0114	10	0.49607	T	0.09	-1.724	7.1038	0.25353	0.0:0.6341:0.1364:0.2295	.	520;520	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	K	520	ENSP00000334379:E520K;ENSP00000323339:E520K	ENSP00000323339:E520K	E	-	1	0	C2CD3	73503249	0.573000	0.26676	0.996000	0.52242	0.534000	0.34807	0.554000	0.23407	0.808000	0.34231	0.650000	0.86243	GAA		0.443	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531		19	83	0	0	0	0.010504	0	19	83		
MYO7A	4647	broad.mit.edu	37	11	76892492	76892492	+	Missense_Mutation	SNP	C	C	T	rs530696050		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:76892492C>T	ENST00000409709.3	+	23	3033	c.2761C>T	c.(2761-2763)Cgg>Tgg	p.R921W	MYO7A_ENST00000409893.1_Missense_Mutation_p.R921W|MYO7A_ENST00000458637.2_Missense_Mutation_p.R921W|MYO7A_ENST00000409619.2_Missense_Mutation_p.R910W	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	921					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCCGCTCGGCGGAAGAAGGA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16246	0.0		0.0	False		,,,				2504	0.0					uc001oyb.2		NaN																	0				ovary(3)|breast(1)	4						c.(2761-2763)CGG>TGG		myosin VIIA isoform 1							32.0	36.0	35.0					11																	76892492		1963	4141	6104	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76892492C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2761C>T	11.37:g.76892492C>T	ENSP00000386331:p.Arg921Trp					MYO7A_uc010rsl.1_Missense_Mutation_p.R921W|MYO7A_uc010rsm.1_Missense_Mutation_p.R910W|MYO7A_uc001oyc.2_Missense_Mutation_p.R921W|MYO7A_uc001oyd.2_Missense_Mutation_p.R261W|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.R132W	p.R921W	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			23	3033	+			921			Potential.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.2761C>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	19.67	3.870824	0.72065	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.88896	-2.39;-2.44;-2.39;-2.41;-2.22	5.32	-1.19	0.09585	.	0.071553	0.51477	D	0.000083	D	0.90793	0.7109	M	0.64997	1.995	0.45733	D	0.998632	D;D;D;D	0.69078	0.997;0.994;0.995;0.997	P;P;P;P	0.56127	0.792;0.792;0.764;0.792	D	0.90759	0.4663	10	0.66056	D	0.02	.	17.0193	0.86429	0.5368:0.4632:0.0:0.0	.	921;910;921;921	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	W	921;921;921;910;132;920;920;797;920;102	ENSP00000386331:R921W;ENSP00000386689:R921W;ENSP00000392185:R921W;ENSP00000386635:R910W;ENSP00000417017:R102W	ENSP00000345075:R797W	R	+	1	2	MYO7A	76570140	0.680000	0.27605	0.994000	0.49952	0.909000	0.53808	0.251000	0.18257	-0.053000	0.13289	0.542000	0.68232	CGG		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		NM_000260		6	10	0	0	0	0.001168	0	6	10		
DDIAS	220042	broad.mit.edu	37	11	82643638	82643638	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:82643638G>A	ENST00000533655.1	+	6	1470	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.E420K|C11orf82_ENST00000329143.3_Missense_Mutation_p.E119K|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		420					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GCCATTCTCTGAAAGCCTGAA	0.443																																						uc001ozt.2		NaN																	0				ovary(2)	2						c.(1258-1260)GAA>AAA		nitric oxide-inducible gene protein							95.0	99.0	98.0					11																	82643638		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643638G>A																												ENST00000533655.1:c.1258G>A	11.37:g.82643638G>A	ENSP00000435421:p.Glu420Lys					C11orf82_uc010rsr.1_Missense_Mutation_p.E119K|C11orf82_uc010rss.1_Missense_Mutation_p.E119K|C11orf82_uc009yvd.2_Intron	p.E420K	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	1502	+			420					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1258G>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170268	0.94768	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.48836	0.8;0.8;0.8	6.04	6.04	0.98038	.	0.061252	0.64402	D	0.000006	T	0.69415	0.3108	M	0.66939	2.045	0.51233	D	0.999916	D	0.89917	1.0	D	0.87578	0.998	T	0.64989	-0.6277	9	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	420	Q8IXT1	NOXIN_HUMAN	K	420;420;119	ENSP00000414687:E420K;ENSP00000435421:E420K;ENSP00000329930:E119K	.	E	+	1	0	C11orf82	82321286	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.207000	0.77899	2.873000	0.98535	0.563000	0.77884	GAA		0.443	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1				17	144	0	0	0	0.004007	0	17	144		
CREBZF	58487	broad.mit.edu	37	11	85374910	85374910	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:85374910G>A	ENST00000527447.1	-	1	1236	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	CREBZF_ENST00000398294.2_Missense_Mutation_p.S255L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	337					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GAACTCCACCGACACCTTATC	0.562											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2		NaN																	0				ovary(1)	1						c.(1009-1011)TCG>TTG		HCF-binding transcription factor Zhangfei							90.0	98.0	95.0					11																	85374910		1995	4155	6150	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85374910G>A	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.1010C>T	11.37:g.85374910G>A	ENSP00000433459:p.Ser337Leu		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	p.S337L	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			1	1273	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	337					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.1010C>T	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802205	0.90538	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	5.43	5.43	0.79202	.	0.314863	0.21915	N	0.067260	T	0.76933	0.4057	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.74213	-0.3738	8	.	.	.	-19.0833	19.0206	0.92912	0.0:0.0:1.0:0.0	.	337	Q9NS37	ZHANG_HUMAN	L	255;337	.	.	S	-	2	0	CREBZF	85052558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.783000	0.91813	2.824000	0.97209	0.655000	0.94253	TCG		0.562	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2		NM_001039618		21	122	0	0	0	0.010504	0	21	122		
SYTL2	54843	broad.mit.edu	37	11	85438975	85438975	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:85438975G>C	ENST00000528231.1	-	7	1700	c.1423C>G	c.(1423-1425)Cag>Gag	p.Q475E	SYTL2_ENST00000389960.4_Missense_Mutation_p.Q475E|SYTL2_ENST00000524452.1_Missense_Mutation_p.Q475E|SYTL2_ENST00000316356.4_Missense_Mutation_p.Q476E|SYTL2_ENST00000525423.1_5'UTR|SYTL2_ENST00000354566.3_5'Flank|SYTL2_ENST00000359152.5_Missense_Mutation_p.Q33E|SYTL2_ENST00000527523.1_Missense_Mutation_p.Q427E	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	475					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCTGGCACCTGAGATGGCTCA	0.453																																						uc010rth.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1423-1425)CAG>GAG		synaptotagmin-like 2 isoform g							85.0	77.0	79.0					11																	85438975		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85438975G>C	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1423C>G	11.37:g.85438975G>C	ENSP00000431701:p.Gln475Glu					SYTL2_uc010rtg.1_Missense_Mutation_p.Q476E|SYTL2_uc010rti.1_Missense_Mutation_p.Q475E|SYTL2_uc010rtj.1_Missense_Mutation_p.Q427E|SYTL2_uc009yvj.2_5'Flank|SYTL2_uc001pbd.2_5'Flank|SYTL2_uc001pbb.2_5'Flank|SYTL2_uc001pbc.2_5'Flank|SYTL2_uc010rtf.1_Missense_Mutation_p.Q333E	p.Q475E	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	7	1699	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	475					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1423C>G	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644499	0.29246	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T;T	0.39406	1.83;1.08;1.84;1.84;1.73;1.83	5.77	5.77	0.91146	.	0.398395	0.21650	N	0.071187	T	0.42223	0.1193	L	0.57536	1.79	0.25190	N	0.990135	P;P;P;P;B	0.45531	0.672;0.825;0.86;0.683;0.036	B;B;B;B;B	0.40825	0.115;0.341;0.184;0.256;0.03	T	0.45991	-0.9223	9	.	.	.	-3.8586	14.8688	0.70437	0.0:0.1431:0.8568:0.0	.	427;475;475;476;333	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	E	475;33;476;475;427;475	ENSP00000374610:Q475E;ENSP00000352065:Q33E;ENSP00000318803:Q476E;ENSP00000431701:Q475E;ENSP00000434010:Q427E;ENSP00000435238:Q475E	.	Q	-	1	0	SYTL2	85116623	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.635000	0.54309	2.885000	0.99019	0.655000	0.94253	CAG		0.453	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927		14	27	0	0	0	0.00499	0	14	27		
SYTL2	54843	broad.mit.edu	37	11	85445719	85445719	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:85445719G>A	ENST00000528231.1	-	6	927	c.650C>T	c.(649-651)tCa>tTa	p.S217L	SYTL2_ENST00000389960.4_Missense_Mutation_p.S217L|SYTL2_ENST00000524452.1_Missense_Mutation_p.S217L|SYTL2_ENST00000316356.4_Missense_Mutation_p.S218L|SYTL2_ENST00000527523.1_Missense_Mutation_p.S169L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	217					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGTCTGCTTTGATTTCTCTAA	0.368																																						uc010rth.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(649-651)TCA>TTA		synaptotagmin-like 2 isoform g							103.0	102.0	102.0					11																	85445719		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445719G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.650C>T	11.37:g.85445719G>A	ENSP00000431701:p.Ser217Leu					SYTL2_uc010rtg.1_Missense_Mutation_p.S218L|SYTL2_uc010rti.1_Missense_Mutation_p.S217L|SYTL2_uc010rtj.1_Missense_Mutation_p.S169L|SYTL2_uc001pbf.3_Missense_Mutation_p.S217L|SYTL2_uc010rtf.1_Missense_Mutation_p.S75L	p.S217L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	926	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	217					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.650C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	8.487	0.861064	0.17178	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.25749	1.89;1.89;1.87;1.78;1.89	5.36	5.36	0.76844	.	.	.	.	.	T	0.19046	0.0457	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.002;0.001;0.0;0.004;0.001	T	0.06356	-1.0831	8	.	.	.	.	18.8807	0.92354	0.0:0.0:1.0:0.0	.	169;217;217;218;75	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	L	217;218;217;169;217	ENSP00000374610:S217L;ENSP00000318803:S218L;ENSP00000431701:S217L;ENSP00000434010:S169L;ENSP00000435238:S217L	.	S	-	2	0	SYTL2	85123367	0.000000	0.05858	0.750000	0.31169	0.076000	0.17211	-0.163000	0.09997	2.779000	0.95612	0.650000	0.86243	TCA		0.368	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927		35	66	0	0	0	0.004878	0	35	66		
GRM5	2915	broad.mit.edu	37	11	88583124	88583124	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:88583124C>T	ENST00000305447.4	-	2	1010	c.861G>A	c.(859-861)ctG>ctA	p.L287L	GRM5_ENST00000305432.5_Silent_p.L287L|GRM5_ENST00000393297.1_Silent_p.L287L|GRM5_ENST00000455756.2_Silent_p.L287L|GRM5_ENST00000418177.2_Silent_p.L287L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	287					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCATGGCCATCAGCAGACCTC	0.517																																						uc001pcq.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(859-861)CTG>CTA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						60.0	64.0	63.0					11																	88583124		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88583124C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.861G>A	11.37:g.88583124C>T						GRM5_uc009yvm.2_Silent_p.L287L	p.L287L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			2	1061	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	287			Extracellular (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.861G>A	CCDS44694.1																																																																																				0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842		35	50	0	0	0	0.012213	0	35	50		
HEPHL1	341208	broad.mit.edu	37	11	93821974	93821974	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:93821974C>G	ENST00000315765.9	+	12	2142	c.2134C>G	c.(2134-2136)Cag>Gag	p.Q712E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	712	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGGCATGGGTCAGATCTATGA	0.502																																						uc001pep.2		NaN																	0				ovary(3)	3						c.(2134-2136)CAG>GAG		hephaestin-like 1 precursor							58.0	58.0	58.0					11																	93821974		1942	4148	6090	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93821974C>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2134C>G	11.37:g.93821974C>G	ENSP00000313699:p.Gln712Glu					uc001pen.1_Intron	p.Q712E	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			12	2291	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	712			Plastocyanin-like 4.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2134C>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039590	0.19669	.	.	ENSG00000181333	ENST00000315765	D	0.99748	-6.62	5.53	5.53	0.82687	Cupredoxin (2);	0.103747	0.64402	D	0.000002	D	0.98921	0.9634	L	0.52905	1.665	0.37582	D	0.919839	B	0.24317	0.101	B	0.22152	0.038	D	0.99982	1.2739	10	0.24483	T	0.36	.	19.4662	0.94943	0.0:1.0:0.0:0.0	.	712	Q6MZM0	HPHL1_HUMAN	E	712	ENSP00000313699:Q712E	ENSP00000313699:Q712E	Q	+	1	0	HEPHL1	93461622	0.997000	0.39634	0.961000	0.40146	0.792000	0.44763	2.149000	0.42244	2.602000	0.87976	0.455000	0.32223	CAG		0.502	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947		17	35	0	0	0	0.004007	0	17	35		
PCSK7	9159	broad.mit.edu	37	11	117094889	117094889	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:117094889C>G	ENST00000320934.3	-	8	1589	c.959G>C	c.(958-960)gGg>gCg	p.G320A	PCSK7_ENST00000540028.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	320	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AAAGATGCTCCCAAAGCCCTG	0.547			T	IGH@	MLCLS																																	uc001pqr.2		NaN		Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0					0						c.(958-960)GGG>GCG		proprotein convertase subtilisin/kexin type 7							216.0	159.0	179.0					11																	117094889		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117094889C>G	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.959G>C	11.37:g.117094889C>G	ENSP00000325917:p.Gly320Ala						p.G320A	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	8	1160	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	320			Catalytic.|Extracellular (Potential).		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.959G>C	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420595	0.96111	.	.	ENSG00000160613	ENST00000320934;ENST00000543900	D	0.87334	-2.24	5.6	5.6	0.85130	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.96364	0.8814	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97735	1.0205	10	0.87932	D	0	-27.7867	18.6006	0.91247	0.0:1.0:0.0:0.0	.	320	Q16549	PCSK7_HUMAN	A	320	ENSP00000325917:G320A	ENSP00000325917:G320A	G	-	2	0	PCSK7	116600099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.625000	0.83145	2.623000	0.88846	0.655000	0.94253	GGG		0.547	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2		NM_004716		13	27	0	0	0	0.00245	0	13	27		
ZNF202	7753	broad.mit.edu	37	11	123597577	123597577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:123597577C>T	ENST00000529691.1	-	7	1294	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ZNF202_ENST00000530393.1_Missense_Mutation_p.E359K|ZNF202_ENST00000336139.4_Missense_Mutation_p.E359K			O95125	ZN202_HUMAN	zinc finger protein 202	359					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GGATTGTCCTCAAAGACTATT	0.433																																						uc001pzd.1		NaN																	0				ovary(1)	1						c.(1075-1077)GAG>AAG		zinc finger protein 202							120.0	135.0	130.0					11																	123597577		2202	4298	6500	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597577C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1075G>A	11.37:g.123597577C>T	ENSP00000433881:p.Glu359Lys					ZNF202_uc001pzc.1_Missense_Mutation_p.E135K|ZNF202_uc001pze.1_Missense_Mutation_p.E359K|ZNF202_uc001pzf.1_Missense_Mutation_p.E359K	p.E359K	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	9	1475	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	359					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.1075G>A	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546283	0.27652	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06449	3.3;3.3;3.3	4.41	4.41	0.53225	.	0.259697	0.27172	N	0.020599	T	0.04634	0.0126	N	0.22421	0.69	0.40443	D	0.980065	B	0.26635	0.155	B	0.24155	0.051	T	0.27191	-1.0081	10	0.07030	T	0.85	-9.9342	14.8808	0.70531	0.0:1.0:0.0:0.0	.	359	O95125	ZN202_HUMAN	K	359	ENSP00000337724:E359K;ENSP00000432504:E359K;ENSP00000433881:E359K	ENSP00000337724:E359K	E	-	1	0	ZNF202	123102787	0.000000	0.05858	0.948000	0.38648	0.067000	0.16453	0.538000	0.23160	2.436000	0.82500	0.655000	0.94253	GAG		0.433	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1		NM_003455		79	134	0	0	0	0.01441	0	79	134		
OR8B12	219858	broad.mit.edu	37	11	124412979	124412979	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:124412979G>A	ENST00000306842.2	-	1	596	c.572C>T	c.(571-573)tCt>tTt	p.S191F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		ATTCATGTAAGAGCTGTTGCA	0.458																																						uc010sam.1		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(571-573)TCT>TTT		olfactory receptor, family 8, subfamily B,							122.0	96.0	105.0					11																	124412979		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412979G>A		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.572C>T	11.37:g.124412979G>A	ENSP00000307159:p.Ser191Phe						p.S191F	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	572	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	191			Extracellular (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.572C>T	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	7.081	0.570276	0.13560	.	.	ENSG00000170953	ENST00000306842	T	0.00188	8.59	3.89	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.602752	0.15587	N	0.254604	T	0.00271	0.0008	L	0.41632	1.29	0.09310	N	1	P	0.50272	0.933	P	0.62885	0.908	T	0.51474	-0.8701	10	0.87932	D	0	.	2.627	0.04932	0.1028:0.1898:0.5112:0.1962	.	191	Q8NGG6	OR8BC_HUMAN	F	191	ENSP00000307159:S191F	ENSP00000307159:S191F	S	-	2	0	OR8B12	123918189	0.003000	0.15002	0.013000	0.15412	0.062000	0.15995	0.776000	0.26704	1.150000	0.42419	0.650000	0.86243	TCT		0.458	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1				33	51	0	0	0	0.013726	0	33	51		
ADAMTS15	170689	broad.mit.edu	37	11	130319039	130319039	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:130319039C>T	ENST00000299164.2	+	1	171	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	57						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTTTTCAGATCACAGCATTTC	0.602																																						uc010scd.1		NaN																	0				large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(169-171)ATC>ATT		a disintegrin-like and metalloprotease							71.0	75.0	73.0					11																	130319039		2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130319039C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.171C>T	11.37:g.130319039C>T							p.I57I	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	1	171	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	57					Q32MI6	Silent	SNP	ENST00000299164.2	37	c.171C>T	CCDS8488.1																																																																																				0.602	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1		NM_139055		11	76	0	0	0	0.008291	0	11	76		
A2M	2	broad.mit.edu	37	12	9229990	9229990	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:9229990G>A	ENST00000318602.7	-	27	3610	c.3303C>T	c.(3301-3303)ctC>ctT	p.L1101L	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1101					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TATAGGCGGAGAGGGTCACTT	0.453																																						uc001qvk.1		NaN																	0				central_nervous_system(4)|skin(1)	5						c.(3301-3303)CTC>CTT		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						101.0	103.0	102.0					12																	9229990		2194	4300	6494	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9229990G>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3303C>T	12.37:g.9229990G>A						A2M_uc001qvj.1_Silent_p.L143L|A2M_uc009zgk.1_Silent_p.L951L	p.L1101L	NM_000014	NP_000005	P01023	A2MG_HUMAN			27	3416	-			1101					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3303C>T	CCDS44827.1																																																																																				0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		5	10	0	0	0	0.001984	0	5	10		
PRB1	5542	broad.mit.edu	37	12	11506649	11506649	+	Intron	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:11506649G>A	ENST00000500254.2	-	3	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGAGGTCTGTTG	0.617																																						uc001qzw.1		NaN																	0					0						c.(388-390)CAA>TAA		proline-rich protein BstNI subfamily 1 isoform 1							16.0	13.0	14.0					12																	11506649		1288	2277	3565	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506649G>A		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+74C>T	12.37:g.11506649G>A						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.Q130*	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	425	-			191		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	7.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Nonsense_Mutation	SNP	ENST00000500254.2	37	c.388C>T	CCDS8642.1																																																																																				0.617	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1		NM_005039		46	693	0	0	0	0.01441	0	46	693		
SLCO1C1	53919	broad.mit.edu	37	12	20903661	20903661	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:20903661C>T	ENST00000266509.2	+	14	2219	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	SLCO1C1_ENST00000545102.1_Silent_p.L499L|SLCO1C1_ENST00000381552.1_Silent_p.L617L|SLCO1C1_ENST00000540354.1_Silent_p.L568L|SLCO1C1_ENST00000545604.1_Silent_p.L617L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	617					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTTCATGCCTCAAATGGGGAT	0.363																																						uc001rej.3		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1849-1851)CTC>CTT		solute carrier organic anion transporter family,							117.0	110.0	113.0					12																	20903661		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20903661C>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1851C>T	12.37:g.20903661C>T						SLCO1C1_uc010sii.1_Silent_p.L617L|SLCO1C1_uc010sij.1_Silent_p.L568L|SLCO1C1_uc009zip.2_Silent_p.L451L|SLCO1C1_uc001rei.2_Silent_p.L617L|SLCO1C1_uc010sik.1_Silent_p.L499L	p.L617L	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			15	2206	+	Esophageal squamous(101;0.149)		617			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1851C>T	CCDS8683.1																																																																																				0.363	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1		NM_017435		17	70	0	0	0	0.006122	0	17	70		
ADAMTS20	80070	broad.mit.edu	37	12	43825236	43825236	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:43825236G>A	ENST00000389420.3	-	22	3159	c.3160C>T	c.(3160-3162)Cac>Tac	p.H1054Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H1054Y|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.H208Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1054	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCACTCAAGTGATCTACATTC	0.428																																						uc010skx.1		NaN																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3160-3162)CAC>TAC		a disintegrin-like and metalloprotease with							184.0	158.0	167.0					12																	43825236		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43825236G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3160C>T	12.37:g.43825236G>A	ENSP00000374071:p.His1054Tyr					ADAMTS20_uc001rno.1_Missense_Mutation_p.H208Y|ADAMTS20_uc001rnp.1_Missense_Mutation_p.H208Y	p.H1054Y	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	22	3160	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1054			TSP type-1 5.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3160C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	g	14.83	2.652989	0.47362	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	4.34	4.34	0.51931	.	0.475556	0.18026	N	0.154089	T	0.35480	0.0933	N	0.16266	0.395	0.09310	N	0.999999	B;P	0.47253	0.013;0.892	B;P	0.45167	0.038;0.472	T	0.13255	-1.0516	10	0.30078	T	0.28	.	12.8305	0.57744	0.0:0.0:0.8364:0.1636	.	1054;208	P59510;E9PBD5	ATS20_HUMAN;.	Y	1054;220;208;1054;1054	ENSP00000374071:H1054Y;ENSP00000447427:H220Y;ENSP00000378911:H208Y;ENSP00000448341:H1054Y	ENSP00000374068:H1054Y	H	-	1	0	ADAMTS20	42111503	0.047000	0.20315	0.824000	0.32777	0.962000	0.63368	1.901000	0.39838	2.340000	0.79590	0.651000	0.88453	CAC		0.428	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		63	40	0	0	0	0.01441	0	63	40		
ADAMTS20	80070	broad.mit.edu	37	12	43944794	43944794	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:43944794G>A	ENST00000389420.3	-	2	370	c.371C>T	c.(370-372)tCg>tTg	p.S124L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S124L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	124					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S124*(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGCAGGTCCGAGGGCCCTGC	0.667																																						uc010skx.1		NaN																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(370-372)TCG>TTG		a disintegrin-like and metalloprotease with							20.0	23.0	22.0					12																	43944794		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944794G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.371C>T	12.37:g.43944794G>A	ENSP00000374071:p.Ser124Leu						p.S124L	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	371	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	124					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.371C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550389	0.27739	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61742	0.26;0.08	4.14	0.211	0.15236	Peptidase M12B, propeptide (1);	0.740797	0.11124	N	0.597115	T	0.47248	0.1435	M	0.64404	1.975	0.09310	N	0.999999	P	0.42039	0.769	B	0.36186	0.219	T	0.34054	-0.9844	10	0.44086	T	0.13	.	5.6651	0.17690	0.2352:0.0:0.6268:0.138	.	124	P59510	ATS20_HUMAN	L	124	ENSP00000374071:S124L;ENSP00000448341:S124L	ENSP00000374068:S124L	S	-	2	0	ADAMTS20	42231061	0.950000	0.32346	0.006000	0.13384	0.020000	0.10135	2.218000	0.42889	0.025000	0.15241	-0.229000	0.12294	TCG		0.667	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		10	5	0	0	0	0.010729	0	10	5		
SCAF11	9169	broad.mit.edu	37	12	46320089	46320089	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:46320089G>A	ENST00000369367.3	-	11	3628	c.3395C>T	c.(3394-3396)tCa>tTa	p.S1132L	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.S940L|SCAF11_ENST00000465950.1_Missense_Mutation_p.S817L|SCAF11_ENST00000419565.2_Missense_Mutation_p.S1132L	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1132					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGTATCAAATGAGAACTCCTG	0.443																																						uc001rox.2		NaN																	0					0						c.(3394-3396)TCA>TTA		splicing factor, arginine/serine-rich 2,							113.0	109.0	110.0					12																	46320089		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320089G>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3395C>T	12.37:g.46320089G>A	ENSP00000358374:p.Ser1132Leu					SFRS2IP_uc001row.2_Missense_Mutation_p.S817L|SFRS2IP_uc001roy.1_Missense_Mutation_p.S1206L	p.S1132L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	3682	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	1132					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.3395C>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744531	0.49151	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.91	5.91	0.95273	.	0.106592	0.42682	D	0.000678	T	0.67674	0.2918	L	0.54323	1.7	0.39819	D	0.972801	D;P	0.63046	0.992;0.905	P;P	0.59357	0.856;0.526	T	0.69041	-0.5250	10	0.72032	D	0.01	-6.139	20.3015	0.98615	0.0:0.0:1.0:0.0	.	940;1132	F8VXG7;Q99590	.;SCAFB_HUMAN	L	817;1132;940;1132	ENSP00000449812:S817L;ENSP00000358374:S1132L;ENSP00000448864:S940L;ENSP00000413036:S1132L	ENSP00000358374:S1132L	S	-	2	0	SCAF11	44606356	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	5.625000	0.67770	2.809000	0.96659	0.655000	0.94253	TCA		0.443	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719		27	83	0	0	0	0.005443	0	27	83		
KRT4	3851	broad.mit.edu	37	12	53207850	53207850	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:53207850G>C	ENST00000293774.4	-	1	485	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRT4_ENST00000551956.1_5'UTR|KRT4_ENST00000458244.2_5'Flank			P19013	K2C4_HUMAN	keratin 4	0	Gly-rich.|Head.		A -> V (in allele K4A1). {ECO:0000269|PubMed:7684424}.		cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CATGGCTGCAGAGAGCGAGCT	0.627																																					Pancreas(190;284 2995 41444 45903)	uc001saz.2		NaN																	0				ovary(4)|skin(2)	6						c.(214-216)TCT>TGT		keratin 4							34.0	40.0	38.0					12																	53207850		1980	4187	6167	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207850G>C		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000293774.4:c.215C>G	12.37:g.53207850G>C	ENSP00000293774:p.Ser72Cys						p.S72C	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			1	486	-			Error:Variant_position_missing_in_B4DRS2_after_alignment					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000293774.4	37	c.215C>G		.	.	.	.	.	.	.	.	.	.	G	11.90	1.776274	0.31411	.	.	ENSG00000170477	ENST00000293774	D	0.83335	-1.71	5.53	4.65	0.58169	.	.	.	.	.	D	0.85725	0.5763	.	.	.	0.49213	D	0.99976	.	.	.	.	.	.	D	0.85560	0.1227	6	0.52906	T	0.07	.	9.6261	0.39752	0.0713:0.0:0.7882:0.1405	.	.	.	.	C	72	ENSP00000293774:S72C	ENSP00000293774:S72C	S	-	2	0	KRT4	51494117	0.026000	0.19158	0.573000	0.28510	0.079000	0.17450	0.755000	0.26405	1.488000	0.48433	-0.145000	0.13849	TCT		0.627	KRT4-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_002272		17	33	0	0	0	0.006122	0	17	33		
KRT78	196374	broad.mit.edu	37	12	53242451	53242451	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:53242451G>A	ENST00000304620.4	-	1	327	c.264C>T	c.(262-264)atC>atT	p.I88I	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	88	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GATTCTGGTTGATGGTCACTT	0.622																																						uc001sbc.1		NaN																	0				ovary(2)	2						c.(262-264)ATC>ATT		keratin 5b							84.0	64.0	71.0					12																	53242451		2203	4300	6503	SO:0001819	synonymous_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242451G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.264C>T	12.37:g.53242451G>A							p.I88I	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			1	328	-			88			Head.		A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	c.264C>T	CCDS8840.1																																																																																				0.622	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1		NM_173352		11	29	0	0	0	0.003163	0	11	29		
RARG	5916	broad.mit.edu	37	12	53607319	53607319	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:53607319C>T	ENST00000425354.2	-	8	1466	c.979G>A	c.(979-981)Gag>Aag	p.E327K	RARG_ENST00000543726.1_Missense_Mutation_p.E305K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Missense_Mutation_p.E316K|RARG_ENST00000394426.1_Missense_Mutation_p.E327K|RARG_ENST00000327550.3_Missense_Mutation_p.E255K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	327	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGCCCTGTCTCGGTGTCATCC	0.647											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(979-981)GAG>AAG		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						46.0	45.0	46.0					12																	53607319		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607319C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.979G>A	12.37:g.53607319C>T	ENSP00000388510:p.Glu327Lys		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Missense_Mutation_p.E316K|RARG_uc010sob.1_Missense_Mutation_p.E305K|RARG_uc001scf.2_Missense_Mutation_p.E327K|RARG_uc001scg.2_Missense_Mutation_p.E255K|RARG_uc010soc.1_Missense_Mutation_p.E206K|RARG_uc010sod.1_Missense_Mutation_p.E364K	p.E327K	NM_000966	NP_000957	P13631	RARG_HUMAN			8	1464	-			327			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.979G>A	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274570	0.95459	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75;-5.75	5.1	5.1	0.69264	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.96398	3.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.968;0.993;0.998;0.973	D	0.97684	1.0174	10	0.87932	D	0	.	17.6627	0.88196	0.0:1.0:0.0:0.0	.	364;305;327;316	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	K	327;327;89;255;316;305;364	ENSP00000388510:E327K;ENSP00000377947:E327K;ENSP00000332695:E255K;ENSP00000343698:E316K;ENSP00000444335:E305K	ENSP00000332695:E255K	E	-	1	0	RARG	51893586	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	7.814000	0.86154	2.530000	0.85305	0.467000	0.42956	GAG		0.647	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		25	17	0	0	0	0.00333	0	25	17		
TRHDE	29953	broad.mit.edu	37	12	72956777	72956777	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:72956777G>C	ENST00000261180.4	+	9	1960	c.1864G>C	c.(1864-1866)Gat>Cat	p.D622H	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	622					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTTATCTATGATATCAGTGC	0.323																																						uc001sxa.2		NaN																	0				ovary(2)|skin(1)	3						c.(1864-1866)GAT>CAT		thyrotropin-releasing hormone degrading enzyme							84.0	90.0	88.0					12																	72956777		2203	4295	6498	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956777G>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1864G>C	12.37:g.72956777G>C	ENSP00000261180:p.Asp622His						p.D622H	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			9	1894	+			622			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1864G>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891492	0.72524	.	.	ENSG00000072657	ENST00000261180	T	0.34667	1.35	6.17	6.17	0.99709	.	0.054769	0.64402	D	0.000001	T	0.52645	0.1747	M	0.68317	2.08	0.53688	D	0.999979	D	0.63880	0.993	P	0.56865	0.808	T	0.51647	-0.8679	10	0.62326	D	0.03	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	622	Q9UKU6	TRHDE_HUMAN	H	622	ENSP00000261180:D622H	ENSP00000261180:D622H	D	+	1	0	TRHDE	71243044	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.900000	0.63252	2.941000	0.99782	0.655000	0.94253	GAT		0.323	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381		58	41	0	0	0	0.01441	0	58	41		
CFAP54	144535	broad.mit.edu	37	12	97157932	97157932	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:97157932C>T	ENST00000524981.4	+	59	8067	c.8044C>T	c.(8044-8046)Cct>Tct	p.P2682S				Q96N23	CL055_HUMAN		0																	TTTTTAGCCTCCTCTCAGAAG	0.343																																						uc001tet.1		NaN																	0				skin(6)|ovary(1)	7						c.(3319-3321)CCT>TCT		hypothetical protein LOC374467							92.0	91.0	91.0					12																	97157932		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97157932C>T																												ENST00000524981.4:c.8044C>T	12.37:g.97157932C>T	ENSP00000431759:p.Pro2682Ser						p.P1107S	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			26	3397	+			1107						Missense_Mutation	SNP	ENST00000524981.4	37	c.3319C>T		.	.	.	.	.	.	.	.	.	.	C	10.68	1.417059	0.25552	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.48	-6.11	0.02131	.	0.889113	0.09649	N	0.773870	T	0.13372	0.0324	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31916	-0.9926	9	0.12103	T	0.63	0.933	4.5968	0.12334	0.0994:0.2728:0.0983:0.5295	.	1107	Q6ZTY8	CL063_HUMAN	S	2682;1107	.	ENSP00000345466:P1107S	P	+	1	0	C12orf63	95682063	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-2.320000	0.01119	-0.828000	0.04273	0.561000	0.74099	CCT		0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4				6	23	0	0	0	0.001168	0	6	23		
ATP2A2	488	broad.mit.edu	37	12	110778732	110778732	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:110778732G>C	ENST00000539276.2	+	14	2139	c.2030G>C	c.(2029-2031)cGa>cCa	p.R677P	ATP2A2_ENST00000308664.6_Missense_Mutation_p.R677P|ATP2A2_ENST00000395494.2_Missense_Mutation_p.R650P			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	677					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGTTTTGCTCGAGTTGAACCC	0.498																																						uc001tqk.3		NaN																	0				ovary(3)|skin(1)	4						c.(2029-2031)CGA>CCA		ATPase, Ca++ transporting, slow twitch 2 isoform							55.0	55.0	55.0					12																	110778732		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110778732G>C		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2030G>C	12.37:g.110778732G>C	ENSP00000440045:p.Arg677Pro					ATP2A2_uc001tql.3_Missense_Mutation_p.R677P|ATP2A2_uc010sxy.1_Missense_Mutation_p.R650P	p.R677P	NM_170665	NP_733765	P16615	AT2A2_HUMAN			14	2593	+			677			Cytoplasmic (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2030G>C	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216359	0.95104	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.96365	-3.99;-3.99;-3.99	5.81	5.81	0.92471	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	H	0.99783	4.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98374	1.0555	10	0.87932	D	0	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	650;677;677	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	P	677;650;677	ENSP00000311186:R677P;ENSP00000378872:R650P;ENSP00000440045:R677P	ENSP00000311186:R677P	R	+	2	0	ATP2A2	109263115	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	CGA		0.498	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1		NM_001681		9	24	0	0	0	0.006214	0	9	24		
ARPC3	10094	broad.mit.edu	37	12	110874486	110874486	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:110874486G>A	ENST00000228825.7	-	5	401	c.255C>T	c.(253-255)tgC>tgT	p.C85C	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	85					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			lung(1)|ovary(1)	2						TTTTGGAATTGCACTGGaaaa	0.368																																						uc001tqq.2		NaN																	0				ovary(1)	1						c.(253-255)TGC>TGT		actin related protein 2/3 complex subunit 3							49.0	47.0	48.0					12																	110874486		2203	4300	6503	SO:0001819	synonymous_variant	10094				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr12:110874486G>A	AF006086	CCDS9146.1	12q24	2011-07-06	2002-08-29		ENSG00000111229	ENSG00000111229		"""Actin related protein 2/3 complex subunits"""	706	protein-coding gene	gene with protein product		604225	"""actin related protein 2/3 complex, subunit 3 (21 kD)"""			9230079, 9359840	Standard	NM_001278556		Approved	p21-Arc, ARC21	uc001tqq.3	O15145	OTTHUMG00000134333	ENST00000228825.7:c.255C>T	12.37:g.110874486G>A							p.C85C	NM_005719	NP_005710	O15145	ARPC3_HUMAN			5	348	-			85					O00554	Silent	SNP	ENST00000228825.7	37	c.255C>T	CCDS9146.1																																																																																				0.368	ARPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259487.2				7	27	0	0	0	0.00308	0	7	27		
DDX54	79039	broad.mit.edu	37	12	113599123	113599123	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:113599123C>A	ENST00000306014.5	-	19	2392	c.2365G>T	c.(2365-2367)Gac>Tac	p.D789Y	DDX54_ENST00000314045.7_Missense_Mutation_p.D789Y|DDX54_ENST00000549271.1_5'UTR	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	789					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCGCCGGTCAGATGCCCCT	0.577																																						uc001tup.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2365-2367)GAC>TAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							220.0	166.0	184.0					12																	113599123		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599123C>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2365G>T	12.37:g.113599123C>A	ENSP00000304072:p.Asp789Tyr					DDX54_uc001tuq.3_Missense_Mutation_p.D789Y	p.D789Y	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			19	2393	-			789					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2365G>T	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	9.420	1.082833	0.20309	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.10763	2.86;2.84	4.12	1.11	0.20524	DBP10CT (1);	0.857101	0.10152	N	0.709456	T	0.11024	0.0269	L	0.40543	1.245	0.09310	N	1	B;B	0.31290	0.318;0.043	B;B	0.35688	0.208;0.044	T	0.34477	-0.9827	10	0.66056	D	0.02	.	7.7666	0.28982	0.0:0.5777:0.3291:0.0931	.	789;789	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	Y	789	ENSP00000323858:D789Y;ENSP00000304072:D789Y	ENSP00000304072:D789Y	D	-	1	0	DDX54	112083506	0.001000	0.12720	0.001000	0.08648	0.297000	0.27493	-0.102000	0.10956	-0.002000	0.14469	0.313000	0.20887	GAC		0.577	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1		NM_024072		15	37	1	0	9.16793e-09	0.00499	9.64887e-09	15	37		
EP400	57634	broad.mit.edu	37	12	132445298	132445298	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:132445298C>T	ENST00000333577.4	+	2	243	c.134C>T	c.(133-135)tCa>tTa	p.S45L	EP400_ENST00000330386.6_Missense_Mutation_p.S45L|EP400_ENST00000389562.2_Missense_Mutation_p.S45L|EP400_ENST00000389561.2_Missense_Mutation_p.S45L|EP400_ENST00000332482.4_Missense_Mutation_p.S45L			Q96L91	EP400_HUMAN	E1A binding protein p400	45					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCGCTCCCTCAGCAAGCCCG	0.652																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(133-135)TCA>TTA		E1A binding protein p400							31.0	35.0	33.0					12																	132445298		2201	4292	6493	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132445298C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.134C>T	12.37:g.132445298C>T	ENSP00000333602:p.Ser45Leu					EP400_uc001ujl.2_Missense_Mutation_p.S45L|EP400_uc001ujm.2_Missense_Mutation_p.S45L|EP400_uc001ujj.1_Missense_Mutation_p.S45L|EP400_uc001ujk.2_Missense_Mutation_p.S45L	p.S45L	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	1	169	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	45					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.134C>T		.	.	.	.	.	.	.	.	.	.	C	7.989	0.752884	0.15778	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90900	-2.71;-2.72;-2.73;-2.75;-2.72	5.57	4.67	0.58626	.	0.140095	0.48286	D	0.000199	D	0.90349	0.6980	M	0.63428	1.95	0.22620	N	0.998929	B;B;B;P;P	0.41232	0.328;0.328;0.328;0.743;0.465	B;B;B;B;B	0.42593	0.178;0.178;0.178;0.392;0.178	D	0.84916	0.0851	10	0.87932	D	0	.	15.6674	0.77242	0.1385:0.8615:0.0:0.0	.	45;45;45;45;45	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	L	45	ENSP00000333602:S45L;ENSP00000374212:S45L;ENSP00000374213:S45L;ENSP00000331737:S45L;ENSP00000330620:S45L	ENSP00000330620:S45L	S	+	2	0	EP400	131011251	1.000000	0.71417	0.011000	0.14972	0.162000	0.22319	7.364000	0.79526	1.321000	0.45227	0.563000	0.77884	TCA		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		16	12	0	0	0	0.004007	0	16	12		
ZNF10	7556	broad.mit.edu	37	12	133732614	133732614	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:133732614G>C	ENST00000248211.6	+	5	1004	c.782G>C	c.(781-783)aGa>aCa	p.R261T	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.R261T	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	261				Missing (in Ref. 1). {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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGCATACATAGAGAGAAACCC	0.393																																						uc009zzb.2		NaN																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(781-783)AGA>ACA		zinc finger protein 10							68.0	68.0	68.0					12																	133732614		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732614G>C	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.782G>C	12.37:g.133732614G>C	ENSP00000248211:p.Arg261Thr					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.R261T	p.R261T	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1229	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	261	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.782G>C	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	0.367	-0.936010	0.02340	.	.	ENSG00000256223	ENST00000248211;ENST00000426665	T;T	0.05258	3.47;3.47	4.13	3.23	0.37069	.	0.543444	0.15777	N	0.245138	T	0.03348	0.0097	N	0.01438	-0.865	0.80722	D	1	B	0.31413	0.322	B	0.40565	0.333	T	0.55321	-0.8159	9	.	.	.	.	11.2251	0.48880	0.0938:0.0:0.9062:0.0	.	261	P21506	ZNF10_HUMAN	T	261	ENSP00000248211:R261T;ENSP00000393814:R261T	.	R	+	2	0	ZNF10	132242687	1.000000	0.71417	0.959000	0.39883	0.981000	0.71138	5.329000	0.65892	1.080000	0.41073	0.591000	0.81541	AGA		0.393	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1		NM_015394		12	51	0	0	0	0.013537	0	12	51		
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	rs538397448		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:20039688G>A	ENST00000400230.2	-	8	573	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R177*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R100*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R137*|TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R137*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R100*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R66*			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	177					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													g|||	1	0.000199681	0.0	0.0	5008	,	,		18530	0.001		0.0	False		,,,				2504	0.0					uc001umd.2		NaN																	0					0						c.(529-531)CGA>TGA		TPTE and PTEN homologous inositol lipid							35.0	34.0	34.0					13																	20039688		2199	4299	6498	SO:0001587	stop_gained	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039688G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.529C>T	13.37:g.20039688G>A	ENSP00000383089:p.Arg177*					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.R177*	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	177					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Nonsense_Mutation	SNP	ENST00000400230.2	37	c.529C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291005	0.80914	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	.	.	.	2.79	2.79	0.32731	.	0.072865	0.56097	U	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7066	9.2507	0.37554	0.0:0.0:1.0:0.0	.	.	.	.	X	137;66;177;100;100;177;137;66;177;46	.	.	R	-	1	2	TPTE2	18937688	0.009000	0.17119	0.002000	0.10522	0.006000	0.05464	1.476000	0.35420	1.846000	0.53633	0.467000	0.42956	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_199254		17	22	0	0	0	0.00499	0	17	22		
ATP12A	479	broad.mit.edu	37	13	25283562	25283562	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:25283562C>T	ENST00000381946.3	+	18	2721	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C	ATP12A_ENST00000218548.6_Missense_Mutation_p.R858C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	852					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CAGGAAGCCTCGCCACAAGAA	0.557																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2554-2556)CGC>TGC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						79.0	73.0	75.0					13																	25283562		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25283562C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2554C>T	13.37:g.25283562C>T	ENSP00000371372:p.Arg852Cys					ATP12A_uc010aaa.2_Missense_Mutation_p.R858C	p.R852C	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	18	2741	+		Lung SC(185;0.0225)|Breast(139;0.077)	852			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2554C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320636	0.81469	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97186	-4.28;-4.28	5.92	5.92	0.95590	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99297	1.0900	10	0.87932	D	0	.	17.8019	0.88590	0.0:1.0:0.0:0.0	.	858;852	P54707-2;P54707	.;AT12A_HUMAN	C	858;852	ENSP00000218548:R858C;ENSP00000371372:R852C	ENSP00000218548:R858C	R	+	1	0	ATP12A	24181562	0.976000	0.34144	1.000000	0.80357	0.890000	0.51754	1.768000	0.38511	2.795000	0.96236	0.655000	0.94253	CGC		0.557	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676		12	58	0	0	0	0.001855	0	12	58		
BRCA2	675	broad.mit.edu	37	13	32915264	32915264	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:32915264G>A	ENST00000380152.3	+	11	7005	c.6772G>A	c.(6772-6774)Gaa>Aaa	p.E2258K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E2258K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2258					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACATGTCCCGAAAATGAGGA	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6772-6774)GAA>AAA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							114.0	120.0	118.0					13																	32915264		2203	4299	6502	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32915264G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6772G>A	13.37:g.32915264G>A	ENSP00000369497:p.Glu2258Lys	TCGA Ovarian(8;0.087)					p.E2258K	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6999	+		Lung SC(185;0.0262)	2258					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6772G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.704847	0.00719	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75367	-0.93;-0.93	5.71	-6.99	0.01605	.	1.407620	0.04072	N	0.308166	T	0.34221	0.0890	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49409	-0.8943	10	0.02654	T	1	.	8.6581	0.34075	0.3715:0.2746:0.3539:0.0	.	2258	P51587	BRCA2_HUMAN	K	2258	ENSP00000369497:E2258K;ENSP00000439902:E2258K	ENSP00000369497:E2258K	E	+	1	0	BRCA2	31813264	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.259000	0.08721	-2.140000	0.00806	-4.424000	0.00006	GAA		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		18	179	0	0	0	0.00499	0	18	179		
COG3	83548	broad.mit.edu	37	13	46103990	46103990	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:46103990G>A	ENST00000349995.5	+	21	2407	c.2295G>A	c.(2293-2295)ttG>ttA	p.L765L		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	765					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTGTGACATTGAGAAGTATGT	0.388																																					Ovarian(150;1048 1859 18083 21577 42700)	uc001vak.2		NaN																	0				breast(1)|skin(1)	2						c.(2293-2295)TTG>TTA		component of golgi transport complex 3							152.0	138.0	142.0					13																	46103990		2203	4300	6503	SO:0001819	synonymous_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46103990G>A	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.2295G>A	13.37:g.46103990G>A						COG3_uc010tfv.1_Silent_p.L602L|COG3_uc010aci.2_Silent_p.L541L	p.L765L	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	21	2396	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	765					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	c.2295G>A	CCDS9398.1																																																																																				0.388	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2				38	25	0	0	0	0.006999	0	38	25		
UTP14C	9724	broad.mit.edu	37	13	52605165	52605165	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:52605165C>T	ENST00000521776.2	+	2	2958	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	742					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CAGTCTTCCTCAAGGTCAGAC	0.478																																						uc001vgb.2		NaN																	0				ovary(3)|large_intestine(1)|breast(1)	5						c.(2224-2226)TCA>TTA		UTP14, U3 small nucleolar ribonucleoprotein,							122.0	114.0	117.0					13																	52605165		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52605165C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.2225C>T	13.37:g.52605165C>T	ENSP00000428619:p.Ser742Leu					UTP14C_uc001vgc.2_RNA	p.S742L	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2760	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	742					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.2225C>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687783	0.29962	.	.	ENSG00000253797	ENST00000521776	T	0.19105	2.17	2.42	1.56	0.23342	.	0.754074	0.11653	N	0.542561	T	0.18964	0.0455	M	0.64997	1.995	0.23862	N	0.996635	P	0.37423	0.594	B	0.33454	0.164	T	0.12319	-1.0552	9	.	.	.	-0.5798	6.9406	0.24490	0.0:0.8469:0.0:0.1531	.	742	Q5TAP6	UT14C_HUMAN	L	742	ENSP00000428619:S742L	.	S	+	2	0	UTP14C	51503166	0.205000	0.23458	0.882000	0.34594	0.646000	0.38490	0.350000	0.20079	0.561000	0.29186	0.455000	0.32223	TCA		0.478	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2		NM_021645		15	143	0	0	0	0.004007	0	15	143		
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:73649905G>A	ENST00000377687.4	+	4	1791	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KLF5_ENST00000539231.1_Missense_Mutation_p.E328K	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	419					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)	p.E419Q(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592																																						uc001vje.2		NaN																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1255-1257)GAG>AAG		Kruppel-like factor 5							61.0	60.0	61.0					13																	73649905		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649905G>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1255G>A	13.37:g.73649905G>A	ENSP00000366915:p.Glu419Lys					KLF5_uc001vjd.2_Missense_Mutation_p.E328K	p.E419K	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1579	+		Prostate(6;0.00187)|Breast(118;0.0735)	419			C2H2-type 2.		L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.1255G>A	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436306	0.96168	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.51071	0.72;0.72	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	N	0.17901	0.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62338	-0.6875	10	0.87932	D	0	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	419	Q13887	KLF5_HUMAN	K	328;419;399	ENSP00000440407:E328K;ENSP00000366915:E419K	ENSP00000366915:E419K	E	+	1	0	KLF5	72547906	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAG		0.592	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				7	54	0	0	0	0.00308	0	7	54		
GRTP1	79774	broad.mit.edu	37	13	114009747	114009747	+	Silent	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:114009747G>T	ENST00000375431.4	-	3	305	c.231C>A	c.(229-231)gtC>gtA	p.V77V	GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000326039.3_De_novo_Start_OutOfFrame|GRTP1_ENST00000375430.4_Silent_p.V77V|GRTP1-AS1_ENST00000423246.1_RNA	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	77	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCACCATCCAGACGCGGGCAC	0.662																																						uc001vtn.2		NaN																	0					0						c.(229-231)GTC>GTA		growth hormone regulated TBC protein 1							54.0	49.0	51.0					13																	114009747		2203	4300	6503	SO:0001819	synonymous_variant	79774					intracellular	Rab GTPase activator activity	g.chr13:114009747G>T	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.231C>A	13.37:g.114009747G>T						GRTP1_uc010tkb.1_Translation_Start_Site|GRTP1_uc010tkc.1_Silent_p.V77V|GRTP1_uc010agv.1_RNA	p.V77V	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	328	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	77			Rab-GAP TBC.		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Silent	SNP	ENST00000375431.4	37	c.231C>A	CCDS9534.2																																																																																				0.662	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5		NM_024719		21	27	1	0	4.96729e-08	0.008871	5.19381e-08	21	27		
ADPRHL1	113622	broad.mit.edu	37	13	114077230	114077230	+	Silent	SNP	G	G	A	rs372483819		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:114077230G>A	ENST00000375418.3	-	7	1058	c.972C>T	c.(970-972)ctC>ctT	p.L324L	ADPRHL1_ENST00000356501.4_Silent_p.L242L	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	324					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTTTGGGAACGAGGTCCAGGC	0.617													g|||	1	0.000199681	0.0	0.0	5008	,	,		16223	0.0		0.0	False		,,,				2504	0.001					uc001vtq.1		NaN																	0					0						c.(970-972)CTC>CTT		ADP-ribosylhydrolase like 1 isoform 1							100.0	91.0	94.0					13																	114077230		2203	4297	6500	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114077230G>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.972C>T	13.37:g.114077230G>A						ADPRHL1_uc001vtp.1_Silent_p.L242L	p.L324L	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		7	1059	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	324					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.972C>T	CCDS9535.1																																																																																				0.617	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2		NM_138430		6	83	0	0	0	0.001984	0	6	83		
TMCO3	55002	broad.mit.edu	37	13	114150069	114150069	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:114150069C>T	ENST00000434316.2	+	2	532	c.173C>T	c.(172-174)tCa>tTa	p.S58L	TMCO3_ENST00000375391.1_Missense_Mutation_p.S58L|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	58						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGGAAGCTCTCAGGGCTTCTC	0.582																																						uc001vtu.3		NaN																	0					0						c.(172-174)TCA>TTA		transmembrane and coiled-coil domains 3							37.0	37.0	37.0					13																	114150069		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114150069C>T	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.173C>T	13.37:g.114150069C>T	ENSP00000389399:p.Ser58Leu					TMCO3_uc001vtt.3_Missense_Mutation_p.S58L	p.S58L	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	534	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	58					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.173C>T	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578730	0.46006	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.31247	1.5	5.46	5.46	0.80206	.	0.251947	0.41500	D	0.000867	T	0.36026	0.0952	L	0.60455	1.87	0.40114	D	0.976528	B;B	0.24368	0.025;0.102	B;B	0.24541	0.024;0.054	T	0.16778	-1.0391	10	0.52906	T	0.07	-30.9385	19.3579	0.94422	0.0:1.0:0.0:0.0	.	58;58	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	L	58	ENSP00000389399:S58L	ENSP00000364540:S58L	S	+	2	0	TMCO3	113198070	0.858000	0.29795	0.107000	0.21349	0.364000	0.29643	3.606000	0.54095	2.590000	0.87494	0.555000	0.69702	TCA		0.582	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3		NM_017905		12	18	0	0	0	0.010729	0	12	18		
CHAMP1	283489	broad.mit.edu	37	13	115090645	115090645	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:115090645C>T	ENST00000361283.1	+	3	1637	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	443	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AGAAAACCCTCAGGGTCACCA	0.537																																						uc010ahb.2		NaN																	0				ovary(2)	2						c.(1327-1329)TCA>TTA		zinc finger protein 828							96.0	110.0	105.0					13																	115090645		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090645C>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1328C>T	13.37:g.115090645C>T	ENSP00000354730:p.Ser443Leu					ZNF828_uc001vuv.2_Missense_Mutation_p.S443L|ZNF828_uc010tko.1_Missense_Mutation_p.S443L	p.S443L	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	1657	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	443			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1328C>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421473	0.62622	.	.	ENSG00000198824	ENST00000361283	T	0.01414	4.92	5.8	5.8	0.92144	.	0.440276	0.19354	N	0.116324	T	0.02267	0.0070	L	0.47716	1.5	0.41418	D	0.987789	P	0.36438	0.553	B	0.31442	0.13	T	0.66972	-0.5788	9	.	.	.	-8.0364	20.0544	0.97645	0.0:1.0:0.0:0.0	.	443	Q96JM3	ZN828_HUMAN	L	443	ENSP00000354730:S443L	.	S	+	2	0	ZNF828	114108747	0.917000	0.31117	0.997000	0.53966	0.965000	0.64279	1.929000	0.40114	2.741000	0.93983	0.650000	0.86243	TCA		0.537	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2		NM_032436		72	151	0	0	0	0.01441	0	72	151		
AJUBA	84962	broad.mit.edu	37	14	23445703	23445703	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:23445703C>G	ENST00000262713.2	-	4	1576	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	AJUBA_ENST00000397388.3_5'UTR|AJUBA_ENST00000361265.4_Missense_Mutation_p.E401Q|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	401	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CAGCATTTCTCAGCTGCCTCC	0.478																																						uc001whz.2		NaN																	0					0						c.(1201-1203)GAG>CAG		ajuba isoform 1							174.0	183.0	180.0					14																	23445703		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445703C>G	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1201G>C	14.37:g.23445703C>G	ENSP00000262713:p.Glu401Gln					JUB_uc001why.2_5'UTR	p.E401Q	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	4	1577	-	all_cancers(95;4.6e-05)		401			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1201G>C	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940675	0.92526	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.87103	-2.21;-2.21	5.67	5.67	0.87782	Zinc finger, LIM-type (2);	0.000000	0.64402	D	0.000001	D	0.91050	0.7184	M	0.76838	2.35	0.58432	D	0.999999	P	0.49961	0.93	P	0.51487	0.671	D	0.91407	0.5148	10	0.54805	T	0.06	.	17.2678	0.87092	0.0:1.0:0.0:0.0	.	401	Q96IF1	JUB_HUMAN	Q	401	ENSP00000262713:E401Q;ENSP00000354491:E401Q	ENSP00000262713:E401Q	E	-	1	0	JUB	22515543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.111000	0.77077	2.679000	0.91253	0.591000	0.81541	GAG		0.478	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2				49	188	0	0	0	0.01441	0	49	188		
C14orf93	60686	broad.mit.edu	37	14	23456450	23456450	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:23456450C>G	ENST00000299088.6	-	7	2020	c.1591G>C	c.(1591-1593)Gaa>Caa	p.E531Q	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.E531Q|C14orf93_ENST00000397379.3_Missense_Mutation_p.E531Q|C14orf93_ENST00000397377.1_Missense_Mutation_p.E351Q|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.E491Q|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.E491Q	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	531						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		ACCTTGATTTCAATGAATGAG	0.483											OREG0022593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wib.1		NaN																	0				ovary(1)	1						c.(1591-1593)GAA>CAA		hypothetical protein LOC60686 precursor							62.0	57.0	59.0					14																	23456450		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23456450C>G	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1591G>C	14.37:g.23456450C>G	ENSP00000299088:p.Glu531Gln		OREG0022593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	763	C14orf93_uc001wic.1_Missense_Mutation_p.E351Q|C14orf93_uc001wid.1_Missense_Mutation_p.E531Q|C14orf93_uc001wig.2_Missense_Mutation_p.E531Q|C14orf93_uc001wih.2_Missense_Mutation_p.E531Q|C14orf93_uc001wie.2_Missense_Mutation_p.E531Q|C14orf93_uc001wia.3_Missense_Mutation_p.E491Q|C14orf93_uc001wif.2_Missense_Mutation_p.E351Q	p.E531Q	NM_021944	NP_068763	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	7	1901	-	all_cancers(95;3.3e-05)		531					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.1591G>C	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	c	18.69	3.678644	0.68042	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.66	5.66	0.87406	.	0.092121	0.46145	D	0.000316	T	0.30166	0.0756	N	0.08118	0	0.33689	D	0.613115	P;P	0.35745	0.518;0.518	B;B	0.36464	0.225;0.225	T	0.45702	-0.9243	10	0.35671	T	0.21	-22.3641	14.1715	0.65512	0.0:0.8498:0.1502:0.0	.	531;491	Q9H972;Q9H972-2	CN093_HUMAN;.	Q	531;491;531;531;351;491	ENSP00000299088:E531Q;ENSP00000341353:E491Q;ENSP00000380535:E531Q;ENSP00000380538:E531Q;ENSP00000380533:E351Q;ENSP00000384768:E491Q	ENSP00000299088:E531Q	E	-	1	0	C14orf93	22526290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.554000	0.53720	2.672000	0.90937	0.556000	0.70494	GAA		0.483	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5		NM_021944		5	35	0	0	0	0.001168	0	5	35		
PABPN1	8106	broad.mit.edu	37	14	23792641	23792641	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:23792641C>T	ENST00000216727.4	+	4	771	c.590C>T	c.(589-591)tCa>tTa	p.S197L	AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000397276.2_Missense_Mutation_p.S197L|PABPN1_ENST00000557702.1_Missense_Mutation_p.S69L|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S224L|PABPN1_ENST00000556821.1_Missense_Mutation_p.S69L|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S224L	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	197	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCTGTGGTTCAGTCAACCGT	0.428																																						uc001wjk.2		NaN																	0				ovary(2)	2						c.(589-591)TCA>TTA		poly(A) binding protein, nuclear 1							97.0	95.0	95.0					14																	23792641		2203	4300	6503	SO:0001583	missense	8106				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr14:23792641C>T	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.590C>T	14.37:g.23792641C>T	ENSP00000216727:p.Ser197Leu					PABPN1_uc001wjh.3_Missense_Mutation_p.S224L|PABPN1_uc001wjj.2_Missense_Mutation_p.S197L	p.S197L	NM_004643	NP_004634	Q86U42	PABP2_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	4	1872	+	all_cancers(95;6.69e-06)		197			Necessary for homooligomerization.|RRM.		D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.590C>T	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434927	0.96150	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.88	4.88	0.63580	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	L	0.39633	1.23	0.80722	D	1	B;B;P	0.35077	0.27;0.229;0.483	B;B;B	0.34346	0.18;0.176;0.144	T	0.71774	-0.4491	10	0.56958	D	0.05	-4.6302	17.1586	0.86798	0.0:1.0:0.0:0.0	.	197;197;224	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	L	224;224;197;197;69;69	ENSP00000451320:S224L;ENSP00000452479:S224L;ENSP00000216727:S197L;ENSP00000380446:S197L;ENSP00000451970:S69L;ENSP00000450724:S69L	ENSP00000216727:S197L	S	+	2	0	PABPN1;RP11-124D2.2	22862481	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.417000	0.66423	2.401000	0.81631	0.555000	0.69702	TCA		0.428	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4		NM_004643		9	78	0	0	0	0.010729	0	9	78		
ADCY4	196883	broad.mit.edu	37	14	24799114	24799114	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:24799114G>A	ENST00000310677.4	-	9	1282	c.1169C>T	c.(1168-1170)tCa>tTa	p.S390L	ADCY4_ENST00000554068.2_Missense_Mutation_p.S390L|ADCY4_ENST00000418030.2_Missense_Mutation_p.S390L|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_Missense_Mutation_p.S83L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	390					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GACATCATGTGACCAAACGTC	0.597																																						uc001wov.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1168-1170)TCA>TTA		adenylate cyclase 4							177.0	145.0	156.0					14																	24799114		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24799114G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1169C>T	14.37:g.24799114G>A	ENSP00000312126:p.Ser390Leu					ADCY4_uc001wow.2_Missense_Mutation_p.S390L|ADCY4_uc010toh.1_Missense_Mutation_p.S76L|ADCY4_uc001wox.2_Missense_Mutation_p.S390L|ADCY4_uc001woy.2_Missense_Mutation_p.S390L	p.S390L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	8	1175	-			390			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1169C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304687	0.95601	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.6	5.05	5.05	0.67936	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.49305	D	0.000148	D	0.94417	0.8204	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95606	0.8667	10	0.87932	D	0	.	15.9503	0.79830	0.0:0.0:1.0:0.0	.	390	Q8NFM4	ADCY4_HUMAN	L	390;390;390;83	ENSP00000312126:S390L;ENSP00000452250:S390L;ENSP00000393177:S390L;ENSP00000379971:S83L	ENSP00000312126:S390L	S	-	2	0	ADCY4	23868954	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.657000	0.98554	2.640000	0.89533	0.561000	0.74099	TCA		0.597	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4				20	112	0	0	0	0.010504	0	20	112		
G2E3	55632	broad.mit.edu	37	14	31074728	31074728	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:31074728G>C	ENST00000206595.6	+	11	1182	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	G2E3_ENST00000553504.1_Missense_Mutation_p.R373T|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Missense_Mutation_p.R297T	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	343					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGCAAATTTAGAAGAAATGTA	0.269																																						uc001wqk.2		NaN																	0				ovary(2)|skin(1)	3						c.(1027-1029)AGA>ACA		G2/M-phase specific E3 ubiquitin ligase							17.0	18.0	17.0					14																	31074728		2130	4263	6393	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074728G>C	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1028G>C	14.37:g.31074728G>C	ENSP00000206595:p.Arg343Thr					G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Missense_Mutation_p.R297T	p.R343T	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			11	1182	+			343					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.1028G>C	CCDS9638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.757856|2.757856	0.49468|0.49468	.|.	.|.	ENSG00000092140|ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504|ENST00000552515	T;T;T|.	0.80480|.	-1.38;0.94;-0.8|.	5.54|5.54	0.585|0.585	0.17428|0.17428	HECT (1);|.	0.376195|.	0.29900|.	N|.	0.010918|.	T|.	0.39118|.	0.1066|.	L|L	0.32530|0.32530	0.975|0.975	0.33296|0.33296	D|D	0.564112|0.564112	P|.	0.38922|.	0.651|.	B|.	0.35859|.	0.212|.	T|.	0.48490|.	-0.9031|.	10|.	0.66056|.	D|.	0.02|.	-8.1177|-8.1177	9.7601|9.7601	0.40526|0.40526	0.4272:0.0:0.5728:0.0|0.4272:0.0:0.5728:0.0	.|.	343|.	Q7L622|.	G2E3_HUMAN|.	T|Y	343;297;373|108	ENSP00000206595:R343T;ENSP00000391068:R297T;ENSP00000451653:R373T|.	ENSP00000206595:R343T|.	R|X	+|+	2|3	0|2	G2E3|G2E3	30144479|30144479	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.644000|0.644000	0.38419|0.38419	0.338000|0.338000	0.19858|0.19858	0.123000|0.123000	0.18342|0.18342	0.557000|0.557000	0.71058|0.71058	AGA|TAG		0.269	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2		NM_017769		8	28	0	0	0	0.00308	0	8	28		
NID2	22795	broad.mit.edu	37	14	52520475	52520475	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:52520475G>T	ENST00000216286.5	-	5	1250	c.1251C>A	c.(1249-1251)aaC>aaA	p.N417K	NID2_ENST00000541773.1_Missense_Mutation_p.N364K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	417					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGATGCTTCCGTTTTCGGGGT	0.557																																						uc001wzo.2		NaN																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1249-1251)AAC>AAA		nidogen 2 precursor							96.0	88.0	91.0					14																	52520475		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520475G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1251C>A	14.37:g.52520475G>T	ENSP00000216286:p.Asn417Lys					NID2_uc010tqs.1_Missense_Mutation_p.N417K|NID2_uc010tqt.1_Missense_Mutation_p.N417K|NID2_uc001wzp.2_Missense_Mutation_p.N417K	p.N417K	NM_007361	NP_031387	Q14112	NID2_HUMAN			5	1485	-	Breast(41;0.0639)|all_epithelial(31;0.123)		417					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1251C>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	1.020	-0.685147	0.03328	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.82803	-1.65;-1.54	3.75	-2.34	0.06704	.	1.425290	0.04775	N	0.428736	T	0.64649	0.2617	N	0.19112	0.55	0.09310	N	1	B;P;B	0.35656	0.433;0.514;0.121	B;B;B	0.29267	0.068;0.1;0.03	T	0.53373	-0.8448	10	0.19147	T	0.46	.	4.3726	0.11255	0.541:0.188:0.271:0.0	.	364;419;417	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	K	417;364;419	ENSP00000216286:N417K;ENSP00000443730:N364K	ENSP00000216286:N417K	N	-	3	2	NID2	51590225	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.323000	0.02692	-0.357000	0.08175	-0.253000	0.11424	AAC		0.557	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1				26	83	1	0	1.5548e-18	0.005443	1.69471e-18	26	83		
SAMD4A	23034	broad.mit.edu	37	14	55169071	55169071	+	Missense_Mutation	SNP	G	G	A	rs200776549		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:55169071G>A	ENST00000554335.1	+	3	1151	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	SAMD4A_ENST00000392067.3_Missense_Mutation_p.R163Q|SAMD4A_ENST00000251091.5_Missense_Mutation_p.R163Q|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R162Q			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	163					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GGCCAGAACCGAGGCCGCTCA	0.512																																						uc001xbb.2		NaN																	0					0						c.(484-486)CGA>CAA		sterile alpha motif domain containing 4 isoform							72.0	70.0	71.0					14																	55169071		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55169071G>A	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.488G>A	14.37:g.55169071G>A	ENSP00000452535:p.Arg163Gln					SAMD4A_uc001xba.2_Missense_Mutation_p.R162Q|SAMD4A_uc001xbc.2_Missense_Mutation_p.R162Q|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Missense_Mutation_p.R62Q	p.R162Q	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			2	486	+			163					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.485G>A	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159510	0.57368	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.73363	-0.74;-0.74;-0.74	6.17	6.17	0.99709	.	0.173336	0.39687	N	0.001295	T	0.65375	0.2685	L	0.36672	1.1	0.21933	N	0.999462	P;P;P	0.52463	0.953;0.89;0.913	B;B;B	0.39503	0.23;0.301;0.208	T	0.60702	-0.7211	10	0.18276	T	0.48	-10.5212	19.0599	0.93085	0.0:0.0:1.0:0.0	.	62;163;163	Q9UPU9-2;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	Q	163;163;163;162;162	ENSP00000452535:R163Q;ENSP00000375919:R163Q;ENSP00000350261:R162Q	ENSP00000306381:R163Q	R	+	2	0	SAMD4A	54238821	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.633000	0.54295	2.941000	0.99782	0.655000	0.94253	CGA		0.512	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1		NM_015589		27	61	0	0	0	0.00632	0	27	61		
DLGAP5	9787	broad.mit.edu	37	14	55618550	55618550	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:55618550C>G	ENST00000247191.2	-	17	2447	c.2231G>C	c.(2230-2232)gGa>gCa	p.G744A	DLGAP5_ENST00000395425.2_Missense_Mutation_p.G744A	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	744					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATCTGAAATTCCTTCTTTTTT	0.368																																						uc001xbs.2		NaN																	0				ovary(1)|skin(1)	2						c.(2230-2232)GGA>GCA		discs large homolog 7 isoform a							106.0	98.0	101.0					14																	55618550		2202	4298	6500	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618550C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2231G>C	14.37:g.55618550C>G	ENSP00000247191:p.Gly744Ala					DLGAP5_uc001xbt.2_Missense_Mutation_p.G744A	p.G744A	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			17	2448	-			744					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2231G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.600382	0.00849	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.28069	1.63;1.63	4.03	-1.56	0.08532	.	2.909130	0.01155	N	0.006505	T	0.14313	0.0346	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.14254	-1.0479	10	0.21014	T	0.42	.	5.8558	0.18718	0.0:0.1737:0.2654:0.5609	.	744;744	A8MTM6;Q15398	.;DLGP5_HUMAN	A	744	ENSP00000378815:G744A;ENSP00000247191:G744A	ENSP00000247191:G744A	G	-	2	0	DLGAP5	54688303	0.000000	0.05858	0.085000	0.20634	0.924000	0.55760	0.049000	0.14099	-0.377000	0.07930	-1.099000	0.02127	GGA		0.368	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2		NM_014750		16	67	0	0	0	0.003163	0	16	67		
C14orf37	145407	broad.mit.edu	37	14	58604778	58604778	+	Missense_Mutation	SNP	G	G	C	rs566768348		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:58604778G>C	ENST00000267485.7	-	2	1493	c.1299C>G	c.(1297-1299)ttC>ttG	p.F433L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	433						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGGTTTCTAAGAAAAACAGGG	0.398																																						uc001xdc.2		NaN																	0					0						c.(1297-1299)TTC>TTG		hypothetical protein LOC145407 precursor							85.0	86.0	86.0					14																	58604778		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58604778G>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1299C>G	14.37:g.58604778G>C	ENSP00000267485:p.Phe433Leu					C14orf37_uc010tro.1_Missense_Mutation_p.F471L|C14orf37_uc001xdd.2_Missense_Mutation_p.F433L|C14orf37_uc001xde.2_Missense_Mutation_p.F433L	p.F433L	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	1410	-			433			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1299C>G	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	2.389	-0.340214	0.05243	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.17213	2.29	5.86	-1.19	0.09585	.	0.733625	0.12674	N	0.448544	T	0.09949	0.0244	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.28350	0.01;0.208;0.01;0.01	B;B;B;B	0.22152	0.009;0.038;0.009;0.009	T	0.39643	-0.9604	10	0.02654	T	1	-0.1707	6.5483	0.22418	0.2355:0.3505:0.414:0.0	.	471;433;433;433	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	L	433;471	ENSP00000267485:F433L	ENSP00000267485:F433L	F	-	3	2	C14orf37	57674531	0.000000	0.05858	0.006000	0.13384	0.050000	0.14768	-0.114000	0.10757	0.082000	0.17018	0.655000	0.94253	TTC		0.398	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1		NM_001001872		13	93	0	0	0	0.00245	0	13	93		
C14orf37	145407	broad.mit.edu	37	14	58604814	58604814	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:58604814G>A	ENST00000267485.7	-	2	1457	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	421						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGGATTCCGTGAAGTCTCCCG	0.438																																						uc001xdc.2		NaN																	0					0						c.(1261-1263)TTC>TTT		hypothetical protein LOC145407 precursor							88.0	87.0	87.0					14																	58604814		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58604814G>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1263C>T	14.37:g.58604814G>A						C14orf37_uc010tro.1_Silent_p.F459F|C14orf37_uc001xdd.2_Silent_p.F421F|C14orf37_uc001xde.2_Silent_p.F421F	p.F421F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	1374	-			421			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.1263C>T	CCDS32089.1																																																																																				0.438	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1		NM_001001872		12	75	0	0	0	0.013537	0	12	75		
PLEKHG3	26030	broad.mit.edu	37	14	65198192	65198192	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:65198192C>T	ENST00000394691.1	+	8	1110	c.963C>T	c.(961-963)ttC>ttT	p.F321F	PLEKHG3_ENST00000247226.7_Silent_p.F265F			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	321	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGACCTTTTTCCTCTTTGACA	0.567																																						uc001xho.1		NaN																	0				skin(1)	1						c.(961-963)TTC>TTT		pleckstrin homology domain containing, family G,							94.0	85.0	88.0					14																	65198192		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65198192C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.963C>T	14.37:g.65198192C>T						PLEKHG3_uc001xhn.1_Silent_p.F265F|PLEKHG3_uc001xhp.2_Silent_p.F321F|PLEKHG3_uc010aqh.1_5'UTR	p.F321F	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	8	1232	+			321			PH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.963C>T																																																																																					0.567	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1		NM_015549		26	55	0	0	0	0.005443	0	26	55		
VIPAS39	63894	broad.mit.edu	37	14	77916080	77916080	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:77916080C>T	ENST00000553888.1	-	5	869	c.359G>A	c.(358-360)gGa>gAa	p.G120E	VIPAS39_ENST00000556412.1_Missense_Mutation_p.G146E|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G120E|VIPAS39_ENST00000327028.4_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G120E|VIPAS39_ENST00000448935.2_Missense_Mutation_p.G71E	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	120					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CTGGAAACTTCCAGGTCTAGT	0.443																																						uc001xtt.1		NaN																	0				central_nervous_system(1)	1						c.(358-360)GGA>GAA		hypothetical protein LOC63894							125.0	118.0	121.0					14																	77916080		2203	4300	6503	SO:0001583	missense	63894				endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	g.chr14:77916080C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.359G>A	14.37:g.77916080C>T	ENSP00000452181:p.Gly120Glu					VIPAR_uc001xtu.1_Missense_Mutation_p.G120E|VIPAR_uc010tvj.1_Missense_Mutation_p.G71E|VIPAR_uc001xtv.1_Missense_Mutation_p.G120E	p.G120E	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN			6	697	-			120					B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.359G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099796	0.37048	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.27	4.39	0.52855	.	0.401000	0.30210	N	0.010157	T	0.20901	0.0503	N	0.14661	0.345	0.80722	D	1	B;B	0.12013	0.004;0.005	B;B	0.13407	0.007;0.009	T	0.08848	-1.0702	10	0.02654	T	1	-15.4378	9.3461	0.38109	0.0:0.7649:0.1544:0.0807	.	71;120	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	E	120;120;120;71;146	ENSP00000339122:G120E;ENSP00000452181:G120E;ENSP00000452191:G120E;ENSP00000404815:G71E;ENSP00000451857:G146E	ENSP00000339122:G120E	G	-	2	0	VIPAR	76985833	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.183000	0.42565	1.230000	0.43646	-0.222000	0.12452	GGA		0.443	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1		NM_022067		44	72	0	0	0	0.010771	0	44	72		
NRXN3	9369	broad.mit.edu	37	14	79269994	79269994	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:79269994G>C	ENST00000554719.1	+	6	1448	c.957G>C	c.(955-957)atG>atC	p.M319I	NRXN3_ENST00000335750.5_Missense_Mutation_p.M319I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATGGTAGCATGTACATGAAGA	0.498																																						uc001xun.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(955-957)ATG>ATC		neurexin 3 isoform 1 precursor							201.0	147.0	165.0					14																	79269994		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79269994G>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.957G>C	14.37:g.79269994G>C	ENSP00000451648:p.Met319Ile					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.M453I	p.M319I	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	6	1448	+		Renal(4;0.00876)	692			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.957G>C	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811686	0.90707	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78924	-1.22;-1.22	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	.	.	.	0.80722	D	1	D;P	0.61697	0.99;0.771	D;B	0.70935	0.971;0.386	D	0.87327	0.2322	8	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	692;319	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	I	692;690;319;319	ENSP00000451648:M319I;ENSP00000338349:M319I	.	M	+	3	0	NRXN3	78339747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	ATG		0.498	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1		NM_001105250		49	75	0	0	0	0.01441	0	49	75		
GALC	2581	broad.mit.edu	37	14	88450815	88450815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:88450815G>A	ENST00000261304.2	-	5	611	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Nonsense_Mutation_p.Q146*|GALC_ENST00000393569.2_Nonsense_Mutation_p.Q143*|GALC_ENST00000544807.2_Nonsense_Mutation_p.Q113*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	169					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAGTCAGCTGAAGATTGACA	0.453																																						uc001xvt.2		NaN																	0					0						c.(505-507)CAG>TAG		galactosylceramidase isoform a precursor							69.0	68.0	68.0					14																	88450815		1978	4163	6141	SO:0001587	stop_gained	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88450815G>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.505C>T	14.37:g.88450815G>A	ENSP00000261304:p.Gln169*					GALC_uc010tvx.1_Nonsense_Mutation_p.Q143*|GALC_uc010tvy.1_Nonsense_Mutation_p.Q146*|GALC_uc010tvz.1_Nonsense_Mutation_p.Q113*|GALC_uc001xvu.1_Nonsense_Mutation_p.Q169*	p.Q169*	NM_000153	NP_000144	P54803	GALC_HUMAN			5	904	-			169					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Nonsense_Mutation	SNP	ENST00000261304.2	37	c.505C>T	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716642	0.68844	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000393568;ENST00000445021	.	.	.	4.85	1.57	0.23409	.	0.413754	0.25253	N	0.032018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-1.1652	9.3207	0.37962	0.0:0.5569:0.3121:0.131	.	.	.	.	X	169;113;143;146;169	.	ENSP00000261304:Q169X	Q	-	1	0	GALC	87520568	0.940000	0.31905	0.782000	0.31804	0.929000	0.56500	1.847000	0.39299	0.989000	0.38761	0.313000	0.20887	CAG		0.453	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2				18	32	0	0	0	0.008871	0	18	32		
ZC3H14	79882	broad.mit.edu	37	14	89034385	89034385	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:89034385G>A	ENST00000251038.5	+	3	307	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E28K|ZC3H14_ENST00000359301.3_5'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E28K|ZC3H14_ENST00000336693.4_5'UTR|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E28K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E28K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	28						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTAAATAGATGAAGAACTTCC	0.363																																						uc001xww.2		NaN																	0				ovary(2)|skin(1)	3						c.(82-84)GAA>AAA		zinc finger CCCH-type containing 14 isoform 1							92.0	80.0	84.0					14																	89034385		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89034385G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.82G>A	14.37:g.89034385G>A	ENSP00000251038:p.Glu28Lys					ZC3H14_uc010twd.1_Missense_Mutation_p.E28K|ZC3H14_uc010twe.1_Missense_Mutation_p.E28K|ZC3H14_uc001xwx.2_Missense_Mutation_p.E28K|ZC3H14_uc010twf.1_5'UTR|ZC3H14_uc001xwy.2_5'UTR	p.E28K	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			3	307	+			28					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.82G>A	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426653	0.96131	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000555755;ENST00000393514	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83450	0.5257	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.991;0.998	D;D;D;D	0.80764	0.994;0.994;0.964;0.994	T	0.82452	-0.0450	10	0.45353	T	0.12	-23.9747	19.6685	0.95901	0.0:0.0:1.0:0.0	.	28;28;28;28	G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;ZC3HE_HUMAN	K	28;28;28;28;28;28;15;28;28	ENSP00000251038:E28K;ENSP00000307025:E28K;ENSP00000450474:E28K;ENSP00000451389:E15K;ENSP00000452475:E28K;ENSP00000377150:E28K	ENSP00000251038:E28K	E	+	1	0	ZC3H14	88104138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.404000	0.97306	2.639000	0.89480	0.655000	0.94253	GAA		0.363	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1		NM_024824		8	36	0	0	0	0.00308	0	8	36		
EFCAB11	90141	broad.mit.edu	37	14	90416473	90416473	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:90416473G>A	ENST00000316738.7	-	3	213	c.185C>T	c.(184-186)tCt>tTt	p.S62F	EFCAB11_ENST00000555872.1_Missense_Mutation_p.S38F|EFCAB11_ENST00000556609.1_Missense_Mutation_p.S14F|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556005.1_Missense_Mutation_p.S38F|EFCAB11_ENST00000267544.9_5'UTR|EFCAB11_ENST00000538485.2_Missense_Mutation_p.S62F	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	62							calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						AGACATCACAGAATCCACTTC	0.318																																						uc001xxt.2		NaN																	0					0						c.(184-186)TCT>TTT		hypothetical protein LOC90141							36.0	36.0	36.0					14																	90416473		2196	4294	6490	SO:0001583	missense	90141						calcium ion binding	g.chr14:90416473G>A	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.185C>T	14.37:g.90416473G>A	ENSP00000326267:p.Ser62Phe					C14orf143_uc001xxs.2_Missense_Mutation_p.S38F|C14orf143_uc001xxv.1_RNA|C14orf143_uc001xxw.1_Missense_Mutation_p.S38F|C14orf143_uc001xxx.1_Missense_Mutation_p.S62F	p.S62F	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN		Epithelial(152;0.194)	3	270	-		all_cancers(154;0.136)	62					B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Missense_Mutation	SNP	ENST00000316738.7	37	c.185C>T	CCDS9887.1	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050498	0.19827	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000556609;ENST00000538485;ENST00000556005	T;T;T;T;T	0.32988	1.94;1.94;1.94;2.94;1.43	4.52	4.52	0.55395	EF-hand-like domain (1);	0.448175	0.23364	N	0.048990	T	0.32194	0.0821	M	0.64997	1.995	0.80722	D	1	B;B;B;B	0.32128	0.357;0.137;0.179;0.065	B;B;B;B	0.27170	0.077;0.052;0.022;0.077	T	0.30822	-0.9965	10	0.87932	D	0	-13.6201	15.1093	0.72343	0.0:0.0:1.0:0.0	.	62;38;62;38	B7Z5G9;Q9BUY7-3;Q9BUY7;Q9BUY7-2	.;.;EFC11_HUMAN;.	F	62;38;14;62;38	ENSP00000326267:S62F;ENSP00000452320:S38F;ENSP00000452335:S14F;ENSP00000438072:S62F;ENSP00000452143:S38F	ENSP00000326267:S62F	S	-	2	0	EFCAB11	89486226	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.077000	0.50089	2.516000	0.84829	0.655000	0.94253	TCT		0.318	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309022.2		NM_145231		6	14	0	0	0	0.00308	0	6	14		
PSMC1	5700	broad.mit.edu	37	14	90735763	90735763	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:90735763G>C	ENST00000261303.8	+	9	1007	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	PSMC1_ENST00000543772.2_Missense_Mutation_p.E229Q	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	302					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TTCTGGTGGTGAGAGAGAAAT	0.418																																						uc001xyf.2		NaN																	0					0						c.(904-906)GAG>CAG		proteasome 26S ATPase subunit 1							92.0	90.0	91.0					14																	90735763		2203	4300	6503	SO:0001583	missense	5700				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr14:90735763G>C	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.904G>C	14.37:g.90735763G>C	ENSP00000261303:p.Glu302Gln					PSMC1_uc001xyg.2_Missense_Mutation_p.E229Q|PSMC1_uc001xyh.2_Missense_Mutation_p.E229Q	p.E302Q	NM_002802	NP_002793	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	9	952	+		all_cancers(154;0.142)	302					B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	c.904G>C	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973845	0.53720	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.93019	-3.15;-3.15	4.98	4.98	0.66077	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94791	0.8318	L	0.33245	0.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95488	0.8566	10	0.66056	D	0.02	-26.6604	18.6337	0.91370	0.0:0.0:1.0:0.0	.	302	P62191	PRS4_HUMAN	Q	302;229	ENSP00000261303:E302Q;ENSP00000445147:E229Q	ENSP00000261303:E302Q	E	+	1	0	PSMC1	89805516	1.000000	0.71417	0.949000	0.38748	0.228000	0.25075	9.830000	0.99415	2.470000	0.83445	0.563000	0.77884	GAG		0.418	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1		NM_002802		13	77	0	0	0	0.001855	0	13	77		
MOK	5891	broad.mit.edu	37	14	102749865	102749865	+	Silent	SNP	C	C	G	rs529037514	byFrequency	TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:102749865C>G	ENST00000361847.2	-	2	303	c.72G>C	c.(70-72)ctG>ctC	p.L24L	MOK_ENST00000522874.1_Silent_p.L24L|MOK_ENST00000524214.1_Silent_p.L24L|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	24	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TTCCATCTCTCAGGCTTTGCA	0.358																																						uc001ylm.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(70-72)CTG>CTC		MAPK/MAK/MRK overlapping kinase							187.0	173.0	178.0					14																	102749865		2202	4300	6502	SO:0001819	synonymous_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102749865C>G	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.72G>C	14.37:g.102749865C>G						RAGE_uc010txv.1_Silent_p.L24L|RAGE_uc001yln.2_5'UTR	p.L24L	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN			2	298	-			24			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	ENST00000361847.2	37	c.72G>C	CCDS9971.1																																																																																				0.358	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3				28	42	0	0	0	0.009535	0	28	42		
CINP	51550	broad.mit.edu	37	14	102822155	102822155	+	Missense_Mutation	SNP	C	C	T	rs577560074		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:102822155C>T	ENST00000216756.6	-	3	296	c.256G>A	c.(256-258)Gag>Aag	p.E86K	snoU13_ENST00000458912.1_RNA|CINP_ENST00000536961.2_Missense_Mutation_p.E101K|CINP_ENST00000541568.2_Missense_Mutation_p.E86K	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	86					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TCCAGTTCCTCGTTATATTCC	0.443																																						uc001ylv.1		NaN																	0				large_intestine(1)	1						c.(256-258)GAG>AAG		cyclin-dependent kinase 2-interacting protein							226.0	173.0	191.0					14																	102822155		2203	4300	6503	SO:0001583	missense	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102822155C>T	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.256G>A	14.37:g.102822155C>T	ENSP00000216756:p.Glu86Lys					CINP_uc001ylu.1_RNA	p.E86K	NM_032630	NP_116019	Q9BW66	CINP_HUMAN			3	321	-			86			Potential.		F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	c.256G>A	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	C	4.564	0.104737	0.08731	.	.	ENSG00000100865	ENST00000216756;ENST00000536961;ENST00000541568	T;T	0.42900	0.99;0.96	6.17	-4.38	0.03622	.	0.793165	0.12448	N	0.467985	T	0.10809	0.0264	N	0.01493	-0.835	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35126	-0.9801	10	0.06099	T	0.92	-5.7635	6.594	0.22661	0.0:0.3206:0.3376:0.3418	.	86	Q9BW66	CINP_HUMAN	K	86;101;86	ENSP00000216756:E86K;ENSP00000442057:E101K	ENSP00000216756:E86K	E	-	1	0	CINP	101891908	0.001000	0.12720	0.000000	0.03702	0.033000	0.12548	-0.138000	0.10374	-0.616000	0.05671	-0.136000	0.14681	GAG		0.443	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1		NM_032630		16	74	0	0	0	0.004007	0	16	74		
AKT1	207	broad.mit.edu	37	14	105243078	105243078	+	Silent	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:105243078G>T	ENST00000554581.1	-	3	1685	c.205C>A	c.(205-207)Cgg>Agg	p.R69R	AKT1_ENST00000544168.1_Silent_p.R7R|AKT1_ENST00000407796.2_Silent_p.R69R|AKT1_ENST00000554848.1_Silent_p.R69R|AKT1_ENST00000555528.1_Silent_p.R69R|AKT1_ENST00000349310.3_Silent_p.R69R|AKT1_ENST00000402615.2_Silent_p.R69R			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	69	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GTGTTGGGCCGGGGCCGCTCC	0.672		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	uc001ypk.2		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			breast|colorectal|ovarian|NSCLC		0				breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134						c.(205-207)CGG>AGG		AKT1 kinase	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						92.0	71.0	78.0					14																	105243078		2203	4300	6503	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105243078G>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.205C>A	14.37:g.105243078G>T						INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.R69R|AKT1_uc010axa.2_Silent_p.R69R|AKT1_uc001ypm.2_Silent_p.R69R|AKT1_uc001ypn.2_Silent_p.R69R|AKT1_uc010tyk.1_Silent_p.R7R	p.R69R	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	759	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	69			PH.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.205C>A	CCDS9994.1																																																																																				0.672	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1		NM_005163		14	35	1	0	6.72482e-11	0.003163	7.17166e-11	14	35		
AHNAK2	113146	broad.mit.edu	37	14	105406884	105406884	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:105406884C>T	ENST00000333244.5	-	7	15023	c.14904G>A	c.(14902-14904)aaG>aaA	p.K4968K	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4968						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTTTCCTTCTTCGGGGACC	0.532																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(14902-14904)AAG>AAA		AHNAK nucleoprotein 2							46.0	45.0	45.0					14																	105406884		1978	4154	6132	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105406884C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14904G>A	14.37:g.105406884C>T						AHNAK2_uc001ypx.2_Silent_p.K4868K	p.K4968K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15024	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4968					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.14904G>A	CCDS45177.1																																																																																				0.532	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		13	23	0	0	0	0.00245	0	13	23		
AHNAK2	113146	broad.mit.edu	37	14	105413428	105413428	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:105413428C>G	ENST00000333244.5	-	7	8479	c.8360G>C	c.(8359-8361)aGa>aCa	p.R2787T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2787						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTTGCTCTCGGGGCCTG	0.602																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(8359-8361)AGA>ACA		AHNAK nucleoprotein 2							145.0	160.0	155.0					14																	105413428		1886	4102	5988	SO:0001583	missense	113146					nucleus		g.chr14:105413428C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8360G>C	14.37:g.105413428C>G	ENSP00000353114:p.Arg2787Thr					AHNAK2_uc001ypx.2_Missense_Mutation_p.R2687T	p.R2787T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8480	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2787					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8360G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	3.353	-0.132035	0.06753	.	.	ENSG00000185567	ENST00000333244	T	0.00873	5.59	2.43	-4.86	0.03132	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45264	-0.9273	9	0.16896	T	0.51	.	6.9349	0.24461	0.0:0.3486:0.1229:0.5285	.	2787	Q8IVF2	AHNK2_HUMAN	T	2787	ENSP00000353114:R2787T	ENSP00000353114:R2787T	R	-	2	0	AHNAK2	104484473	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.244000	0.18124	-1.853000	0.01165	-2.062000	0.00397	AGA		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		119	221	0	0	0	0.01441	0	119	221		
GABRB3	2562	broad.mit.edu	37	15	26793038	26793038	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:26793038G>C	ENST00000311550.5	-	9	1435	c.1324C>G	c.(1324-1326)Cta>Gta	p.L442V	GABRB3_ENST00000545868.1_Missense_Mutation_p.L357V|GABRB3_ENST00000541819.2_Missense_Mutation_p.L498V|GABRB3_ENST00000400188.3_Missense_Mutation_p.L371V|GABRB3_ENST00000299267.4_Missense_Mutation_p.L442V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	442					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACATCGGTTAGATCAGGTATT	0.458																																						uc001zaz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1324-1326)CTA>GTA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						115.0	95.0	102.0					15																	26793038		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793038G>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1324C>G	15.37:g.26793038G>C	ENSP00000308725:p.Leu442Val					GABRB3_uc010uae.1_Missense_Mutation_p.L357V|GABRB3_uc001zba.2_Missense_Mutation_p.L442V|GABRB3_uc001zbb.2_Missense_Mutation_p.L498V	p.L442V	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1466	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	442			Cytoplasmic (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1324C>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810116	0.32053	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	6.03	3.95	0.45737	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	L	0.58354	1.805	0.58432	D	0.999996	B;B;B	0.30664	0.289;0.075;0.092	B;B;B	0.40375	0.327;0.023;0.085	T	0.73849	-0.3853	10	0.12103	T	0.63	.	8.3267	0.32162	0.2728:0.0:0.7272:0.0	.	498;442;442	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	442;498;442;371;357	ENSP00000308725:L442V;ENSP00000442408:L498V;ENSP00000299267:L442V;ENSP00000383049:L371V;ENSP00000439169:L357V	ENSP00000299267:L442V	L	-	1	2	GABRB3	24344131	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.101000	0.57769	1.558000	0.49541	0.655000	0.94253	CTA		0.458	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2				33	38	0	0	0	0.003271	0	33	38		
GABRA5	2558	broad.mit.edu	37	15	27193135	27193135	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:27193135A>G	ENST00000335625.5	+	11	2032	c.1144A>G	c.(1144-1146)Atg>Gtg	p.M382V	GABRA5_ENST00000355395.5_Missense_Mutation_p.M382V|GABRA5_ENST00000400081.3_Missense_Mutation_p.M382V	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	382					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AACTGGGAAGATGTCTCACCC	0.433																																						uc001zbd.1		NaN																	0				ovary(1)	1						c.(1144-1146)ATG>GTG		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						42.0	40.0	41.0					15																	27193135		1876	4106	5982	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193135A>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1144A>G	15.37:g.27193135A>G	ENSP00000335592:p.Met382Val					GABRA5_uc001zbe.1_RNA	p.M382V	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	12	1483	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	382			Cytoplasmic (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1144A>G	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	A	0.048	-1.259184	0.01445	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85088	-1.94;-1.94;-1.94	4.66	-5.14	0.02875	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.618550	0.00166	N	0.000004	T	0.74215	0.3687	L	0.29908	0.895	0.28145	N	0.929645	B	0.02656	0.0	B	0.01281	0.0	T	0.59726	-0.7400	10	0.16420	T	0.52	.	8.0355	0.30491	0.296:0.4737:0.0:0.2303	.	382	P31644	GBRA5_HUMAN	V	382	ENSP00000335592:M382V;ENSP00000347557:M382V;ENSP00000382953:M382V	ENSP00000335592:M382V	M	+	1	0	GABRA5	24775881	0.991000	0.36638	0.805000	0.32314	0.072000	0.16883	0.189000	0.17037	-0.740000	0.04803	-0.389000	0.06534	ATG		0.433	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1				4	5	0	0	0	0.000602	0	4	5		
AVEN	57099	broad.mit.edu	37	15	34159807	34159807	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:34159807G>A	ENST00000306730.3	-	5	991	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	RP11-3D4.2_ENST00000560268.1_RNA|AVEN_ENST00000558136.1_5'Flank	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	288					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TTAAGCAACAGATCTAGTTCT	0.488																																						uc001zhj.2		NaN																	0				kidney(1)	1						c.(862-864)CTG>TTG		cell death regulator aven							155.0	152.0	153.0					15																	34159807		2201	4298	6499	SO:0001819	synonymous_variant	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34159807G>A	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.862C>T	15.37:g.34159807G>A							p.L288L	NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	5	918	-		all_lung(180;1.78e-08)	288						Silent	SNP	ENST00000306730.3	37	c.862C>T	CCDS10030.1																																																																																				0.488	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2		NM_020371		32	147	0	0	0	0.010818	0	32	147		
DLL4	54567	broad.mit.edu	37	15	41228778	41228778	+	Silent	SNP	C	C	T	rs544067517		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:41228778C>T	ENST00000249749.5	+	9	1869	c.1593C>T	c.(1591-1593)gcC>gcT	p.A531A		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	531					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGGGTGGCCGTCTCGCTGG	0.672																																						uc001zng.1		NaN																	0				breast(2)	2						c.(1591-1593)GCC>GCT		delta-like 4 protein precursor							19.0	21.0	21.0					15																	41228778		2132	4242	6374	SO:0001819	synonymous_variant	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41228778C>T	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1593C>T	15.37:g.41228778C>T							p.A531A	NM_019074	NP_061947	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	1913	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	531			Helical; (Potential).		Q3KP23|Q9NQT9	Silent	SNP	ENST00000249749.5	37	c.1593C>T	CCDS45232.1																																																																																				0.672	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1				8	10	0	0	0	0.00308	0	8	10		
TTBK2	146057	broad.mit.edu	37	15	43044650	43044650	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:43044650C>T	ENST00000267890.6	-	14	2902	c.2794G>A	c.(2794-2796)Gat>Aat	p.D932N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	932					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTAACCATATCCTTCCGGGTT	0.428																																						uc001zqo.2		NaN																	0				ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(2794-2796)GAT>AAT		tau tubulin kinase 2							95.0	92.0	93.0					15																	43044650		1884	4100	5984	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044650C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2794G>A	15.37:g.43044650C>T	ENSP00000267890:p.Asp932Asn					TTBK2_uc010bcy.2_Missense_Mutation_p.D863N	p.D932N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3233	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	932					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2794G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391801	0.83011	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.46063	0.88	5.9	5.9	0.94986	.	0.243264	0.41194	D	0.000938	T	0.54046	0.1834	L	0.59436	1.845	0.80722	D	1	P;P	0.46142	0.873;0.799	P;B	0.49047	0.599;0.395	T	0.54781	-0.8242	10	0.87932	D	0	.	20.2723	0.98479	0.0:1.0:0.0:0.0	.	863;932	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	N	932;862;1337	ENSP00000267890:D932N	ENSP00000263802:D1337N	D	-	1	0	TTBK2	40831942	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.359000	0.66074	2.793000	0.96121	0.563000	0.77884	GAT		0.428	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2		NM_173500		34	79	0	0	0	0.003271	0	34	79		
ALDH1A2	8854	broad.mit.edu	37	15	58256149	58256149	+	Silent	SNP	G	G	A	rs114347273		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:58256149G>A	ENST00000249750.4	-	9	1787	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	ALDH1A2_ENST00000559517.1_Silent_p.S244S|ALDH1A2_ENST00000537372.1_Silent_p.S319S|ALDH1A2_ENST00000347587.3_Silent_p.S302S|ALDH1A2_ENST00000558231.1_Silent_p.S311S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	340					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CCCGCTCCACGCTTCTTCTCA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		18181	0.0		0.001	False		,,,				2504	0.0					uc002aex.2		NaN																	0				central_nervous_system(1)	1						c.(1018-1020)AGC>AGT		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	G	,,,	1,4383	2.1+/-5.4	0,1,2191	79.0	80.0	79.0		957,1020,906,732	-5.1	0.9	15	dbSNP_132	79	2,8582	2.2+/-6.3	0,2,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ALDH1A2	NM_001206897.1,NM_003888.3,NM_170696.2,NM_170697.2	,,,	0,3,6481	AA,AG,GG		0.0233,0.0228,0.0231	,,,	319/498,340/519,302/481,244/423	58256149	3,12965	2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58256149G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1020C>T	15.37:g.58256149G>A						ALDH1A2_uc002aey.2_Silent_p.S302S|ALDH1A2_uc010ugv.1_Silent_p.S319S|ALDH1A2_uc010ugw.1_Silent_p.S311S|ALDH1A2_uc002aew.2_Silent_p.S244S	p.S340S	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	9	1078	-			340					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.1020C>T	CCDS10163.1																																																																																				0.542	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1				26	84	0	0	0	0.00632	0	26	84		
CELF6	60677	broad.mit.edu	37	15	72581516	72581516	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:72581516G>A	ENST00000569547.1	-	8	1064	c.993C>T	c.(991-993)tcC>tcT	p.S331S	RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000287202.5_Silent_p.S331S|CELF6_ENST00000569311.1_5'Flank|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000395258.2_Silent_p.S218S|CELF6_ENST00000567083.1_Silent_p.S331S|CELF6_ENST00000543764.2_Silent_p.S215S|CELF6_ENST00000539635.1_Silent_p.S192S			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	331					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						AGAGCGTGTCGGAGCCCGGCT	0.692																																						uc002auh.2		NaN																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(991-993)TCC>TCT		bruno-like 6, RNA binding protein							17.0	22.0	21.0					15																	72581516		2194	4286	6480	SO:0001819	synonymous_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72581516G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.993C>T	15.37:g.72581516G>A						uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Silent_p.S218S|CELF6_uc010ukl.1_Silent_p.S215S|CELF6_uc010ukm.1_Silent_p.S331S|CELF6_uc002aui.2_Silent_p.S437S|CELF6_uc002auj.2_Silent_p.S218S	p.S331S	NM_052840	NP_443072	Q96J87	CELF6_HUMAN			8	1303	-			331					B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	37	c.993C>T	CCDS10242.1																																																																																				0.692	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1		NM_052840		3	5	0	0	0	0.004672	0	3	5		
LOXL1	4016	broad.mit.edu	37	15	74240184	74240184	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:74240184G>A	ENST00000261921.7	+	5	1869	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	515	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTACAATGCGGACATCGACTG	0.597																																						uc002awc.1		NaN																	0					0						c.(1543-1545)GAC>AAC		lysyl oxidase-like 1 preproprotein							197.0	159.0	172.0					15																	74240184		2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74240184G>A	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1543G>A	15.37:g.74240184G>A	ENSP00000261921:p.Asp515Asn					LOXL1_uc002awd.1_RNA	p.D515N	NM_005576	NP_005567	Q08397	LOXL1_HUMAN			5	1879	+			515			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1543G>A	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809829	0.50421	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.44083	0.93	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	N	0.25647	0.755	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	T	0.58463	-0.7632	10	0.87932	D	0	.	15.662	0.77193	0.0:0.0:1.0:0.0	.	515	Q08397	LOXL1_HUMAN	N	515;377	ENSP00000261921:D515N	ENSP00000261921:D515N	D	+	1	0	LOXL1	72027237	1.000000	0.71417	0.918000	0.36340	0.021000	0.10359	7.839000	0.86812	2.038000	0.60285	0.313000	0.20887	GAC		0.597	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2		NM_005576		10	96	0	0	0	0.013537	0	10	96		
SCAPER	49855	broad.mit.edu	37	15	76673758	76673758	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:76673758G>T	ENST00000563290.1	-	28	3761	c.3666C>A	c.(3664-3666)ttC>ttA	p.F1222L	SCAPER_ENST00000324767.7_Missense_Mutation_p.F1222L|SCAPER_ENST00000538941.2_Missense_Mutation_p.F976L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1222						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGCTGTTGAAGAAACGTAAAC	0.428																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(3664-3666)TTC>TTA		S-phase cyclin A-associated protein in the ER							78.0	75.0	76.0					15																	76673758		1931	4126	6057	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76673758G>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3666C>A	15.37:g.76673758G>T	ENSP00000454973:p.Phe1222Leu					SCAPER_uc010bkr.2_Missense_Mutation_p.F530L|SCAPER_uc002bbx.2_Missense_Mutation_p.F976L|SCAPER_uc002bbz.1_Missense_Mutation_p.F1093L	p.F1222L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			27	3725	-			1221					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.3666C>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896704	0.33535	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.18502	2.21;2.21	5.8	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	L	0.39397	1.21	0.53688	D	0.999976	B;B	0.22211	0.039;0.066	B;B	0.25884	0.064;0.039	T	0.05131	-1.0904	10	0.20046	T	0.44	.	14.2842	0.66235	0.0708:0.0:0.9292:0.0	.	1221;976	Q9BY12;F5H7X8	SCAPE_HUMAN;.	L	1222;976;1244	ENSP00000326924:F1222L;ENSP00000442190:F976L	ENSP00000303560:F1244L	F	-	3	2	SCAPER	74460813	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.385000	0.66231	2.740000	0.93945	0.650000	0.86243	TTC		0.428	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		8	34	1	0	2.17888e-05	0.006214	2.24894e-05	8	34		
SCAPER	49855	broad.mit.edu	37	15	76673922	76673922	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:76673922G>A	ENST00000563290.1	-	28	3597	c.3502C>T	c.(3502-3504)Ccc>Tcc	p.P1168S	SCAPER_ENST00000324767.7_Missense_Mutation_p.P1168S|SCAPER_ENST00000538941.2_Missense_Mutation_p.P922S			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1168						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGCCCTGTGGGATCCTGGCGA	0.453																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(3502-3504)CCC>TCC		S-phase cyclin A-associated protein in the ER							62.0	65.0	64.0					15																	76673922		1968	4157	6125	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76673922G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3502C>T	15.37:g.76673922G>A	ENSP00000454973:p.Pro1168Ser					SCAPER_uc010bkr.2_Missense_Mutation_p.P476S|SCAPER_uc002bbx.2_Missense_Mutation_p.P922S|SCAPER_uc002bbz.1_Missense_Mutation_p.P1039S	p.P1168S	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			27	3561	-			1167					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.3502C>T	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120213	0.56613	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25579	1.83;1.79	5.46	5.46	0.80206	.	0.110196	0.64402	D	0.000005	T	0.34135	0.0887	M	0.65975	2.015	0.58432	D	0.99999	B;B	0.16603	0.011;0.018	B;B	0.20384	0.019;0.029	T	0.13495	-1.0507	10	0.66056	D	0.02	.	19.3106	0.94186	0.0:0.0:1.0:0.0	.	1167;922	Q9BY12;F5H7X8	SCAPE_HUMAN;.	S	1168;922;1190	ENSP00000326924:P1168S;ENSP00000442190:P922S	ENSP00000303560:P1190S	P	-	1	0	SCAPER	74460977	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.209000	0.65208	2.561000	0.86390	0.650000	0.86243	CCC		0.453	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		4	13	0	0	0	0.009096	0	4	13		
CPEB1	64506	broad.mit.edu	37	15	83295967	83295967	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:83295967C>T	ENST00000562019.1	-	2	483	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	CPEB1_ENST00000563800.1_Missense_Mutation_p.R83Q|CPEB1_ENST00000568128.1_Missense_Mutation_p.R56Q|CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568757.1_5'UTR			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	56					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ATGAATTCCTCGGTTTATAGG	0.403																																						uc002bit.2		NaN																	0				ovary(1)|breast(1)	2						c.(346-348)CGA>CAA		cytoplasmic polyadenylation element binding							149.0	144.0	146.0					15																	83295967		1891	4122	6013	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83295967C>T	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.167G>A	15.37:g.83295967C>T	ENSP00000457836:p.Arg56Gln					CPEB1_uc002biu.2_Missense_Mutation_p.R83Q|CPEB1_uc010uof.1_5'UTR|CPEB1_uc002biv.2_Missense_Mutation_p.R56Q	p.R116Q	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		2	484	-			56					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.347G>A		.	.	.	.	.	.	.	.	.	.	C	16.90	3.250224	0.59212	.	.	ENSG00000214575	ENST00000450751;ENST00000398593	.	.	.	5.77	2.55	0.30701	.	0.190032	0.30830	N	0.008783	T	0.27629	0.0679	N	0.08118	0	0.80722	D	1	B;B;B	0.22604	0.072;0.002;0.068	B;B;B	0.16722	0.016;0.002;0.005	T	0.08411	-1.0723	9	0.72032	D	0.01	-1.5413	5.2085	0.15304	0.0:0.4477:0.0:0.5523	.	56;56;56	Q9BZB8-3;Q9BZB8;E7ET70	.;CPEB1_HUMAN;.	Q	56	.	ENSP00000381593:R56Q	R	-	2	0	CPEB1	81093022	1.000000	0.71417	0.994000	0.49952	0.745000	0.42441	1.117000	0.31234	0.800000	0.34041	0.650000	0.86243	CGA		0.403	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1		NM_030594		25	76	0	0	0	0.004656	0	25	76		
SV2B	9899	broad.mit.edu	37	15	91809817	91809817	+	Silent	SNP	C	C	G	rs367942173		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:91809817C>G	ENST00000394232.1	+	7	1484	c.1014C>G	c.(1012-1014)tcC>tcG	p.S338S	SV2B_ENST00000330276.4_Silent_p.S338S|SV2B_ENST00000545111.2_Silent_p.S187S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	338					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCAGGTTTCCAACATCAAAA	0.368																																						uc002bqv.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1012-1014)TCC>TCG		synaptic vesicle protein 2B homolog		C	,	0,4396		0,0,2198	68.0	71.0	70.0		561,1014	5.4	1.0	15		70	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	0,1,6495	GG,GC,CC		0.0116,0.0,0.0077	,	187/533,338/684	91809817	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91809817C>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1014C>G	15.37:g.91809817C>G						SV2B_uc002bqt.2_Silent_p.S338S|SV2B_uc010uqv.1_Silent_p.S187S|SV2B_uc002bqu.3_RNA	p.S338S	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		6	1405	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		338			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1014C>G	CCDS10370.1																																																																																				0.368	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3		NM_014848		14	41	0	0	0	0.003163	0	14	41		
LUC7L	55692	broad.mit.edu	37	16	270656	270656	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:270656C>G	ENST00000293872.8	-	3	357	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	LUC7L_ENST00000397780.1_Missense_Mutation_p.E30Q|LUC7L_ENST00000494366.1_5'UTR|LUC7L_ENST00000337351.4_Missense_Mutation_p.E83Q|LUC7L_ENST00000397783.1_Missense_Mutation_p.E83Q	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	83					mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				ACATCTAATTCAAAAAACAGG	0.353																																						uc002cgc.1		NaN																	0				central_nervous_system(1)	1						c.(247-249)GAA>CAA		LUC7-like isoform b							127.0	142.0	137.0					16																	270656		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:270656C>G	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.247G>C	16.37:g.270656C>G	ENSP00000293872:p.Glu83Gln					LUC7L_uc002cga.1_Missense_Mutation_p.E83Q|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.E83Q	p.E83Q	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN			3	358	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	83					B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.247G>C	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062840	0.93898	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000397780;ENST00000428363	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.76002	2.32	0.80722	D	1	D	0.54601	0.967	P	0.58391	0.838	T	0.78612	-0.2136	9	0.66056	D	0.02	.	18.4097	0.90548	0.0:1.0:0.0:0.0	.	83	Q9NQ29	LUC7L_HUMAN	Q	83;83;83;30;30	.	ENSP00000293872:E83Q	E	-	1	0	LUC7L	210657	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.581000	0.82535	2.827000	0.97445	0.643000	0.83706	GAA		0.353	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1				60	98	0	0	0	0.01441	0	60	98		
NARFL	64428	broad.mit.edu	37	16	783368	783368	+	Silent	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:783368C>A	ENST00000251588.2	-	7	769	c.753G>T	c.(751-753)ctG>ctT	p.L251L	NARFL_ENST00000568545.1_Silent_p.L149L|NARFL_ENST00000540986.1_Silent_p.L149L|NARFL_ENST00000301694.5_3'UTR|HAGHL_ENST00000569604.1_Intron|NARFL_ENST00000562862.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	251					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TGGAGGCTTCCAGCTTTTTGT	0.557																																						uc002cjr.2		NaN																	0					0						c.(751-753)CTG>CTT		nuclear prelamin A recognition factor-like							131.0	114.0	120.0					16																	783368		2200	4299	6499	SO:0001819	synonymous_variant	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:783368C>A	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.753G>T	16.37:g.783368C>A						NARFL_uc002cjp.2_Silent_p.L149L|NARFL_uc002cjq.2_Silent_p.L149L|NARFL_uc002cjs.2_Silent_p.L33L|NARFL_uc010uuq.1_5'Flank	p.L251L	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN			7	765	-		Hepatocellular(780;0.0218)	251					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	ENST00000251588.2	37	c.753G>T	CCDS10425.1																																																																																				0.557	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1		NM_022493		4	51	1	0	0.00024832	0.009096	0.000253452	4	51		
IFT140	9742	broad.mit.edu	37	16	1618267	1618267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:1618267G>A	ENST00000426508.2	-	15	2084	c.1721C>T	c.(1720-1722)tCt>tTt	p.S574F	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	574					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCACCGCAGAGAAGCGATGCC	0.672																																						uc002cmb.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1720-1722)TCT>TTT		intraflagellar transport 140							125.0	71.0	89.0					16																	1618267		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1618267G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1721C>T	16.37:g.1618267G>A	ENSP00000406012:p.Ser574Phe					IFT140_uc002clz.2_Missense_Mutation_p.S225F	p.S574F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			15	2083	-		Hepatocellular(780;0.219)	574					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1721C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018834	0.54576	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	D	0.81499	-1.5	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.91054	0.7185	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.949;0.986	D	0.91839	0.5482	10	0.72032	D	0.01	.	19.2542	0.93940	0.0:0.0:1.0:0.0	.	574;299	Q96RY7;B4DR58	IF140_HUMAN;.	F	574	ENSP00000406012:S574F	ENSP00000380562:S574F	S	-	2	0	IFT140	1558268	1.000000	0.71417	0.067000	0.19924	0.008000	0.06430	7.992000	0.88273	2.653000	0.90120	0.655000	0.94253	TCT		0.672	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		NM_014714		6	18	0	0	0	0.00308	0	6	18		
SRRM2	23524	broad.mit.edu	37	16	2817596	2817596	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:2817596G>A	ENST00000301740.8	+	11	7616	c.7067G>A	c.(7066-7068)aGa>aAa	p.R2356K	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2356	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCGGCTCCAGAACCGCCGCA	0.627																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7066-7068)AGA>AAA		splicing coactivator subunit SRm300							83.0	89.0	87.0					16																	2817596		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817596G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7067G>A	16.37:g.2817596G>A	ENSP00000301740:p.Arg2356Lys					SRRM2_uc002crj.1_Missense_Mutation_p.R2260K|SRRM2_uc002crl.1_Missense_Mutation_p.R2356K|SRRM2_uc010bsu.1_Missense_Mutation_p.R2260K	p.R2356K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	7616	+			2356			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7067G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762016	0.49468	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78126	-1.15	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.81767	0.4892	L	0.34521	1.04	0.32017	N	0.601271	P	0.52842	0.956	D	0.65010	0.931	D	0.83977	0.0330	10	0.62326	D	0.03	-13.6596	15.4828	0.75542	0.0:0.0:1.0:0.0	.	2356	Q9UQ35	SRRM2_HUMAN	K	2356;1608	ENSP00000301740:R2356K	ENSP00000301740:R2356K	R	+	2	0	SRRM2	2757597	0.999000	0.42202	0.999000	0.59377	0.788000	0.44548	3.246000	0.51414	2.728000	0.93425	0.655000	0.94253	AGA		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				18	155	0	0	0	0.007413	0	18	155		
SLX4	84464	broad.mit.edu	37	16	3640791	3640791	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:3640791C>G	ENST00000294008.3	-	12	3488	c.2848G>C	c.(2848-2850)Gag>Cag	p.E950Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	950	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCGCCTCCTCTGGCGCCTCC	0.657								Direct reversal of damage																														uc002cvp.2		NaN																	0					0						c.(2848-2850)GAG>CAG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							46.0	50.0	49.0					16																	3640791		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640791C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2848G>C	16.37:g.3640791C>G	ENSP00000294008:p.Glu950Gln						p.E950Q	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	3475	-			950			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2848G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	8.294	0.818288	0.16607	.	.	ENSG00000188827	ENST00000294008	T	0.01159	5.25	3.53	-6.13	0.02118	.	2.680190	0.00897	N	0.002315	T	0.01222	0.0040	L	0.46157	1.445	0.09310	N	1	P	0.39480	0.675	B	0.33042	0.157	T	0.41305	-0.9516	10	0.37606	T	0.19	.	6.7792	0.23636	0.0:0.3131:0.1287:0.5581	.	950	Q8IY92	SLX4_HUMAN	Q	950	ENSP00000294008:E950Q	ENSP00000294008:E950Q	E	-	1	0	SLX4	3580792	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.306000	0.02735	-1.336000	0.02238	-0.407000	0.06327	GAG		0.657	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444		13	54	0	0	0	0.013537	0	13	54		
C16orf71	146562	broad.mit.edu	37	16	4797521	4797521	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:4797521G>A	ENST00000299320.5	+	9	1936	c.1458G>A	c.(1456-1458)caG>caA	p.Q486Q	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.Q503Q	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	486										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCAAGGGGCAGAGCGCCCAGG	0.667																																						uc002cxn.2		NaN																	0				central_nervous_system(1)	1						c.(1456-1458)CAG>CAA		hypothetical protein LOC146562							21.0	24.0	23.0					16																	4797521		2195	4299	6494	SO:0001819	synonymous_variant	146562							g.chr16:4797521G>A	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1458G>A	16.37:g.4797521G>A							p.Q486Q	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN			9	1920	+			486					Q8NCV0	Silent	SNP	ENST00000299320.5	37	c.1458G>A	CCDS10521.1																																																																																				0.667	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1		NM_139170		7	20	0	0	0	0.00308	0	7	20		
NOMO1	23420	broad.mit.edu	37	16	14989478	14989478	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:14989478G>C	ENST00000287667.7	+	31	3816	c.3645G>C	c.(3643-3645)aaG>aaC	p.K1215N		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1215						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GACAAGCCAAGAAACAGAAGA	0.607																																						uc002dcv.2		NaN																	0				ovary(1)	1						c.(3643-3645)AAG>AAC		nodal modulator 1 precursor							322.0	386.0	365.0					16																	14989478		2194	4298	6492	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14989478G>C	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3645G>C	16.37:g.14989478G>C	ENSP00000287667:p.Lys1215Asn						p.K1215N	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			31	3711	+			1215			Cytoplasmic (Potential).		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3645G>C	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407977	0.42715	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.55760	0.5	2.99	2.01	0.26516	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	L	0.29908	0.895	0.58432	D	0.999994	P	0.51653	0.947	D	0.67231	0.95	T	0.52434	-0.8576	10	0.72032	D	0.01	-19.8845	5.1067	0.14787	0.2856:0.0:0.7144:0.0	.	1215	Q15155	NOMO1_HUMAN	N	1215;1215;1048	ENSP00000287667:K1215N	ENSP00000287667:K1215N	K	+	3	2	NOMO1	14896979	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.696000	0.47052	0.586000	0.29626	0.384000	0.25694	AAG		0.607	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1				87	515	0	0	0	0.01441	0	87	515		
ABCC1	4363	broad.mit.edu	37	16	16180768	16180768	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:16180768C>T	ENST00000399410.3	+	18	2555	c.2380C>T	c.(2380-2382)Ccc>Tcc	p.P794S	ABCC1_ENST00000351154.5_Missense_Mutation_p.P735S|ABCC1_ENST00000345148.5_Missense_Mutation_p.P794S|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000346370.5_Intron|ABCC1_ENST00000399408.2_Missense_Mutation_p.P794S	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	794	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CTTCGATGATCCCCTCTCAGC	0.592																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(2380-2382)CCC>TCC		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						57.0	65.0	62.0					16																	16180768		2188	4297	6485	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16180768C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.2380C>T	16.37:g.16180768C>T	ENSP00000382342:p.Pro794Ser					ABCC1_uc010bvj.2_Missense_Mutation_p.P735S|ABCC1_uc010bvk.2_Intron|ABCC1_uc010bvl.2_Missense_Mutation_p.P794S|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Missense_Mutation_p.P678S	p.P794S	NM_004996	NP_004987	P33527	MRP1_HUMAN			18	2555	+			794			ABC transporter 1.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.2380C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051143	0.55218	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000351154;ENST00000345148;ENST00000536381	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.38	4.43	0.53597	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.62016	1.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97707	1.0188	10	0.87932	D	0	-33.2292	12.9377	0.58325	0.0:0.9221:0.0:0.0779	.	794;735;794;794	P33527-4;P33527-2;P33527;P33527-9	.;.;MRP1_HUMAN;.	S	794;794;735;794;468	ENSP00000382342:P794S;ENSP00000382340:P794S;ENSP00000263017:P735S;ENSP00000263014:P794S	ENSP00000263014:P794S	P	+	1	0	ABCC1	16088269	1.000000	0.71417	0.922000	0.36590	0.073000	0.16967	7.685000	0.84117	1.269000	0.44280	0.563000	0.77884	CCC		0.592	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		8	75	0	0	0	0.004482	0	8	75		
DNAH3	55567	broad.mit.edu	37	16	21078642	21078642	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:21078642C>T	ENST00000261383.3	-	24	3479	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	DNAH3_ENST00000415178.1_Silent_p.L1160L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1160	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTAATCATTCAGCCCTTTCT	0.443																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3478-3480)CTG>CTA		dynein, axonemal, heavy chain 3							87.0	87.0	87.0					16																	21078642		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21078642C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3480G>A	16.37:g.21078642C>T							p.L1160L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	24	3480	-			1160			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3480G>A	CCDS10594.1																																																																																				0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		15	60	0	0	0	0.00245	0	15	60		
PRKCB	5579	broad.mit.edu	37	16	24231400	24231400	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:24231400C>G	ENST00000321728.7	+	17	2157	c.1982C>G	c.(1981-1983)tCt>tGt	p.S661C	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	661	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GCTGGCTTCTCTTATACTAAC	0.433																																						uc002dmd.2		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1981-1983)TCT>TGT		protein kinase C, beta isoform 1	Vitamin E(DB00163)						148.0	138.0	141.0					16																	24231400		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24231400C>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1982C>G	16.37:g.24231400C>G	ENSP00000318315:p.Ser661Cys					PRKCB_uc002dme.2_3'UTR	p.S661C	NM_212535	NP_997700	P05771	KPCB_HUMAN			17	2179	+			661			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1982C>G	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294792	0.81025	.	.	ENSG00000166501	ENST00000321728	T	0.63913	-0.07	5.9	5.9	0.94986	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	.	.	.	.	D	0.87497	0.6192	H	0.98199	4.17	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.91487	0.5209	9	0.87932	D	0	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	661	P05771	KPCB_HUMAN	C	661	ENSP00000318315:S661C	ENSP00000318315:S661C	S	+	2	0	PRKCB	24138901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.481000	0.81124	2.798000	0.96311	0.650000	0.86243	TCT		0.433	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2		NM_212535		22	54	0	0	0	0.00278	0	22	54		
GDPD3	79153	broad.mit.edu	37	16	30123483	30123483	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:30123483C>A	ENST00000406256.3	-	6	920	c.543G>T	c.(541-543)aaG>aaT	p.K181N	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	181	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TGACCGAGCTCTTCTCCGAGG	0.617											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2		NaN																	0					0						c.(541-543)AAG>AAT		glycerophosphodiester phosphodiesterase domain							68.0	64.0	65.0					16																	30123483		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123483C>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.543G>T	16.37:g.30123483C>A	ENSP00000384363:p.Lys181Asn		OREG0023731	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|GDPD3_uc002dwq.2_Missense_Mutation_p.K119N|LOC100271831_uc010vei.1_5'Flank	p.K181N	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			6	622	-			181			Extracellular (Potential).|GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.543G>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.444149	0.01089	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.09073	3.02	4.93	1.87	0.25490	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.396007	0.30483	N	0.009526	T	0.04770	0.0129	N	0.26042	0.785	0.24548	N	0.994034	P	0.43788	0.817	B	0.41988	0.372	T	0.22347	-1.0219	10	0.02654	T	1	.	7.2926	0.26374	0.0:0.6867:0.1439:0.1694	.	181	Q7L5L3	GDPD3_HUMAN	N	181;119	ENSP00000384363:K181N	ENSP00000353909:K119N	K	-	3	2	GDPD3	30030984	0.502000	0.26107	0.990000	0.47175	0.054000	0.15201	0.236000	0.17967	0.349000	0.23975	-1.255000	0.01485	AAG		0.617	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1		NM_024307		9	71	1	0	1.04858e-14	0.006214	1.13522e-14	9	71		
GDPD3	79153	broad.mit.edu	37	16	30123690	30123690	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:30123690C>A	ENST00000406256.3	-	5	797	c.420G>T	c.(418-420)caG>caT	p.Q140H	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	140	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TTGGAAACCTCTGGAACAGGT	0.622											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2		NaN																	0					0						c.(418-420)CAG>CAT		glycerophosphodiester phosphodiesterase domain							93.0	87.0	89.0					16																	30123690		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123690C>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.420G>T	16.37:g.30123690C>A	ENSP00000384363:p.Gln140His		OREG0023731	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|GDPD3_uc002dwq.2_Missense_Mutation_p.Q78H|LOC100271831_uc010vei.1_5'Flank	p.Q140H	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			5	499	-			140			Extracellular (Potential).|GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.420G>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587095	0.66105	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.30182	1.54	5.79	4.83	0.62350	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.224162	0.45361	D	0.000374	T	0.44850	0.1313	L	0.58810	1.83	0.45594	D	0.998536	P	0.50819	0.939	P	0.57548	0.823	T	0.41928	-0.9481	10	0.72032	D	0.01	.	10.6802	0.45811	0.0:0.9122:0.0:0.0878	.	140	Q7L5L3	GDPD3_HUMAN	H	140;78	ENSP00000384363:Q140H	ENSP00000353909:Q78H	Q	-	3	2	GDPD3	30031191	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	3.942000	0.56614	1.432000	0.47375	0.655000	0.94253	CAG		0.622	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1		NM_024307		10	88	1	0	1.58986e-06	0.008291	1.64628e-06	10	88		
GDPD3	79153	broad.mit.edu	37	16	30123730	30123730	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:30123730C>A	ENST00000406256.3	-	5	757	c.380G>T	c.(379-381)gGg>gTg	p.G127V	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	127	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CCGGTCTGACCCGTGAGCAAA	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2		NaN																	0					0						c.(379-381)GGG>GTG		glycerophosphodiester phosphodiesterase domain							73.0	74.0	74.0					16																	30123730		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123730C>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.380G>T	16.37:g.30123730C>A	ENSP00000384363:p.Gly127Val		OREG0023731	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|GDPD3_uc002dwq.2_Missense_Mutation_p.G65V|LOC100271831_uc010vei.1_5'Flank	p.G127V	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			5	459	-			127			Extracellular (Potential).|GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.380G>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052812	0.75960	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.29917	1.55	5.79	5.79	0.91817	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55425	-0.8143	10	0.18710	T	0.47	.	15.5223	0.75875	0.0:1.0:0.0:0.0	.	127	Q7L5L3	GDPD3_HUMAN	V	127;65	ENSP00000384363:G127V	ENSP00000353909:G65V	G	-	2	0	GDPD3	30031231	0.985000	0.35326	0.915000	0.36163	0.506000	0.33950	4.928000	0.63447	2.726000	0.93360	0.655000	0.94253	GGG		0.602	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1		NM_024307		9	93	1	0	1.33987e-11	0.008291	1.43846e-11	9	93		
MAPK3	5595	broad.mit.edu	37	16	30128229	30128229	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:30128229C>T	ENST00000263025.4	-	7	1087	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	MAPK3_ENST00000322266.5_Missense_Mutation_p.D291N|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000484663.1_Missense_Mutation_p.D221N|MAPK3_ENST00000395202.1_Missense_Mutation_p.D291N|MAPK3_ENST00000395200.1_Missense_Mutation_p.D267N|MAPK3_ENST00000395199.3_Missense_Mutation_p.D335N|MAPK3_ENST00000403394.1_Missense_Mutation_p.D335N	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	335					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|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)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	TCCGTCGGGTCATAGTACTGC	0.627																																						uc002dws.2		NaN																	0					0						c.(1003-1005)GAC>AAC		mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						96.0	95.0	96.0					16																	30128229		2197	4300	6497	SO:0001583	missense	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30128229C>T	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.1003G>A	16.37:g.30128229C>T	ENSP00000263025:p.Asp335Asn					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.D221N|MAPK3_uc002dwv.3_Missense_Mutation_p.D291N|MAPK3_uc002dwt.2_Missense_Mutation_p.D335N|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_Intron	p.D335N	NM_002746	NP_002737	P27361	MK03_HUMAN			7	1103	-			335					A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	c.1003G>A	CCDS10672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.50|16.50	3.140345|3.140345	0.56936|0.56936	.|.	.|.	ENSG00000102882|ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000322266;ENST00000403394;ENST00000395200;ENST00000395202;ENST00000478356;ENST00000395199|ENST00000495629	T;T;T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94;2.78;0.94|.	5.68|5.68	4.72|4.72	0.59763|0.59763	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80160|0.80160	0.4572|0.4572	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D;D;B|.	0.76494|.	0.997;0.999;0.054|.	D;D;B|.	0.75484|.	0.972;0.986;0.033|.	D|D	0.83712|0.83712	0.0188|0.0188	10|5	0.62326|.	D|.	0.03|.	-1.4019|-1.4019	14.7901|14.7901	0.69833|0.69833	0.1459:0.8541:0.0:0.0|0.1459:0.8541:0.0:0.0	.|.	291;335;335|.	P27361-2;P27361-3;P27361|.	.;.;MK03_HUMAN|.	N|I	335;221;291;335;267;291;98;335|295	ENSP00000263025:D335N;ENSP00000432742:D221N;ENSP00000327293:D291N;ENSP00000384895:D335N;ENSP00000378626:D267N;ENSP00000378628:D291N;ENSP00000432292:D98N;ENSP00000378625:D335N|.	ENSP00000263025:D335N|.	D|M	-|-	1|3	0|0	MAPK3|MAPK3	30035730|30035730	1.000000|1.000000	0.71417|0.71417	0.831000|0.831000	0.32960|0.32960	0.012000|0.012000	0.07955|0.07955	7.639000|7.639000	0.83342|0.83342	1.370000|1.370000	0.46153|0.46153	0.591000|0.591000	0.81541|0.81541	GAC|ATG		0.627	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2				16	135	0	0	0	0.004007	0	16	135		
CES3	23491	broad.mit.edu	37	16	66998585	66998585	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:66998585C>T	ENST00000303334.4	+	6	845	c.774C>T	c.(772-774)atC>atT	p.I258I	CES3_ENST00000543856.1_5'Flank|RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Silent_p.I258I	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	258						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTGGGGTCATCACCACCCCAG	0.587																																						uc002eqt.2		NaN																	0				ovary(3)|central_nervous_system(2)	5						c.(772-774)ATC>ATT		carboxylesterase 3 precursor							185.0	146.0	159.0					16																	66998585		2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66998585C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.774C>T	16.37:g.66998585C>T						CES3_uc010cdz.2_Silent_p.I258I|CES3_uc010cea.2_RNA|CES3_uc010viw.1_5'Flank	p.I258I	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	6	847	+		Ovarian(137;0.0563)	258					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.774C>T	CCDS10826.1																																																																																				0.587	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1		NM_024922		32	23	0	0	0	0.012213	0	32	23		
LRRC36	55282	broad.mit.edu	37	16	67404900	67404900	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:67404900G>C	ENST00000329956.6	+	9	1268	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	LRRC36_ENST00000435835.3_Missense_Mutation_p.E296Q|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.E296Q|LRRC36_ENST00000290940.7_Missense_Mutation_p.E149Q	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	417										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGTCAATGTAGAGCAACAATT	0.493																																						uc002esv.2		NaN																	0					0						c.(1249-1251)GAG>CAG		leucine rich repeat containing 36 isoform 1							189.0	161.0	170.0					16																	67404900		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67404900G>C	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1249G>C	16.37:g.67404900G>C	ENSP00000329943:p.Glu417Gln					LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.E149Q|LRRC36_uc002esx.2_Missense_Mutation_p.E296Q|LRRC36_uc010vjk.1_Missense_Mutation_p.E296Q|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron	p.E417Q	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	9	1268	+		Ovarian(137;0.192)	417					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1249G>C	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766345	0.31228	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.61742	2.39;0.08;0.7	5.7	5.7	0.88788	.	0.331916	0.30901	N	0.008659	T	0.72598	0.3480	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.989;0.996;0.999;0.996	P;P;D;D	0.78314	0.848;0.907;0.988;0.991	T	0.74281	-0.3716	10	0.87932	D	0	-4.46	15.3379	0.74273	0.0:0.0:1.0:0.0	.	296;149;296;417	B7Z7B3;Q9NV11;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	Q	417;149;296	ENSP00000329943:E417Q;ENSP00000290940:E149Q;ENSP00000411122:E296Q	ENSP00000290940:E149Q	E	+	1	0	LRRC36	65962401	0.963000	0.33076	0.944000	0.38274	0.476000	0.33039	3.257000	0.51500	2.711000	0.92665	0.561000	0.74099	GAG		0.493	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1		NM_018296		7	96	0	0	0	0.001984	0	7	96		
WWP2	11060	broad.mit.edu	37	16	69964146	69964146	+	Missense_Mutation	SNP	C	C	T	rs372517256		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:69964146C>T	ENST00000359154.2	+	13	1531	c.1430C>T	c.(1429-1431)cCg>cTg	p.P477L	MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.P38L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.P361L|WWP2_ENST00000448661.1_Missense_Mutation_p.P477L|WWP2_ENST00000356003.2_Missense_Mutation_p.P477L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	477	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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 transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATCCTCGCCCGGGGTTTGAG	0.597											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002exu.1		NaN																	0				lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(1429-1431)CCG>CTG		WW domain containing E3 ubiquitin protein ligase		C	LEU/PRO,LEU/PRO	1,4395	2.1+/-5.4	0,1,2197	60.0	58.0	59.0		1430,113	5.5	1.0	16		59	0,8600		0,0,4300	no	missense,missense	WWP2	NM_007014.3,NM_199424.1	98,98	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	477/871,38/432	69964146	1,12995	2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69964146C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1430C>T	16.37:g.69964146C>T	ENSP00000352069:p.Pro477Leu		OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1118	WWP2_uc002exv.1_Missense_Mutation_p.P477L|WWP2_uc010vlm.1_Missense_Mutation_p.P361L|WWP2_uc010vln.1_Missense_Mutation_p.P95L|WWP2_uc002exw.1_Missense_Mutation_p.P38L|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	p.P477L	NM_007014	NP_008945	O00308	WWP2_HUMAN			14	1519	+			477			WW 4.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.1430C>T	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159336	0.94686	2.27E-4	0.0	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.52	5.52	0.82312	WW/Rsp5/WWP (2);	0.000000	0.85682	D	0.000000	T	0.36826	0.0981	L	0.46885	1.475	0.80722	D	1	D	0.55605	0.972	P	0.46850	0.529	T	0.03945	-1.0990	9	.	.	.	.	19.4505	0.94865	0.0:1.0:0.0:0.0	.	477	O00308	WWP2_HUMAN	L	477;38;477;477;364;361	ENSP00000352069:P477L;ENSP00000396871:P477L;ENSP00000348283:P477L;ENSP00000445616:P361L	.	P	+	2	0	WWP2	68521647	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	7.629000	0.83207	2.597000	0.87782	0.655000	0.94253	CCG		0.597	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1		NM_007014		32	10	0	0	0	0.003755	0	32	10		
AP1G1	164	broad.mit.edu	37	16	71799484	71799484	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:71799484C>G	ENST00000299980.4	-	7	1087	c.646G>C	c.(646-648)Gtg>Ctg	p.V216L	AP1G1_ENST00000433195.2_Missense_Mutation_p.V239L|AP1G1_ENST00000423132.2_Missense_Mutation_p.V219L|AP1G1_ENST00000569748.1_Missense_Mutation_p.V216L|AP1G1_ENST00000393512.3_Missense_Mutation_p.V219L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	216					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AATTGGGGCACAAGCTGCAGA	0.408																																						uc010cgg.2		NaN																	0				ovary(2)	2						c.(646-648)GTG>CTG		adaptor-related protein complex 1, gamma 1							59.0	58.0	58.0					16																	71799484		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71799484C>G	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.646G>C	16.37:g.71799484C>G	ENSP00000299980:p.Val216Leu					AP1G1_uc002fba.2_Missense_Mutation_p.V219L|AP1G1_uc002fbb.2_Missense_Mutation_p.V239L|AP1G1_uc010vmg.1_RNA	p.V216L	NM_001128	NP_001119	O43747	AP1G1_HUMAN			7	960	-		Ovarian(137;0.125)	216					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.646G>C	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178960	0.78564	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.22336	2.68;2.68;1.96;2.68	5.8	5.8	0.92144	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.053944	0.85682	D	0.000000	T	0.31544	0.0800	M	0.73372	2.23	0.80722	D	1	B;B;B	0.13594	0.0;0.003;0.008	B;B;B	0.23275	0.009;0.022;0.045	T	0.05419	-1.0886	10	0.52906	T	0.07	-4.0139	20.1223	0.97967	0.0:1.0:0.0:0.0	.	216;239;219	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	L	216;219;219;239;87;301	ENSP00000299980:V216L;ENSP00000377148:V219L;ENSP00000409153:V219L;ENSP00000403259:V239L	ENSP00000299980:V216L	V	-	1	0	AP1G1	70356985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.749000	0.94314	0.650000	0.86243	GTG		0.408	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1				12	32	0	0	0	0.001855	0	12	32		
DNAAF1	123872	broad.mit.edu	37	16	84199455	84199455	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:84199455G>A	ENST00000378553.5	+	7	1054	c.930G>A	c.(928-930)gaG>gaA	p.E310E	DNAAF1_ENST00000334315.5_Silent_p.E310E|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	310					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)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCAGTGGGAGAGCAGGGAGC	0.522																																						uc002fhl.3		NaN																	0					0						c.(928-930)GAG>GAA		leucine rich repeat containing 50							173.0	164.0	167.0					16																	84199455		2200	4300	6500	SO:0001819	synonymous_variant	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84199455G>A	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.930G>A	16.37:g.84199455G>A						LRRC50_uc010vnw.1_Silent_p.E58E	p.E310E	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			7	1111	+			310					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.930G>A	CCDS10943.2																																																																																				0.522	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3		NM_178452		9	91	0	0	0	0.008291	0	9	91		
ZNF276	92822	broad.mit.edu	37	16	89800365	89800365	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:89800365C>T	ENST00000443381.2	+	9	1490	c.1393C>T	c.(1393-1395)Cgg>Tgg	p.R465W	ZNF276_ENST00000289816.5_Missense_Mutation_p.R390W|ZNF276_ENST00000568064.1_Missense_Mutation_p.R373W|ZNF276_ENST00000446326.2_Missense_Mutation_p.R251W	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R390W(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGTCCGGGAGCGGCCCTGCCC	0.627																																						uc002fos.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1393-1395)CGG>TGG		zinc finger protein 276 isoform a							66.0	57.0	60.0					16																	89800365		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89800365C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1393C>T	16.37:g.89800365C>T	ENSP00000415836:p.Arg465Trp					ZNF276_uc010ciq.2_Missense_Mutation_p.R251W|ZNF276_uc002fop.2_Missense_Mutation_p.R373W|ZNF276_uc002foq.3_Missense_Mutation_p.R390W|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.R251W|ZNF276_uc010cis.2_Missense_Mutation_p.R224W|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.R303W|ZNF276_uc010cit.1_Missense_Mutation_p.R224W	p.R465W	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1490	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	465			C2H2-type 2.		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1393C>T	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729184	0.69074	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.78816	-1.21;2.45;2.45	5.64	0.57	0.17347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	N	0.08118	0	0.42234	D	0.991901	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.971;0.993;0.971;0.984	T	0.72207	-0.4360	10	0.87932	D	0	-34.5114	9.5671	0.39405	0.4094:0.5213:0.0693:0.0	.	303;465;251;390	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	W	251;390;465	ENSP00000415999:R251W;ENSP00000289816:R390W;ENSP00000415836:R465W	ENSP00000289816:R390W	R	+	1	2	ZNF276	88327866	1.000000	0.71417	0.979000	0.43373	0.851000	0.48451	1.228000	0.32588	-0.190000	0.10465	-0.397000	0.06425	CGG		0.627	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287		13	19	0	0	0	0.013537	0	13	19		
ZNF276	92822	broad.mit.edu	37	16	89800436	89800436	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:89800436C>T	ENST00000443381.2	+	9	1561	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	ZNF276_ENST00000289816.5_Silent_p.L413L|ZNF276_ENST00000568064.1_Silent_p.L396L|ZNF276_ENST00000446326.2_Silent_p.L274L	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ACGTGAAGCTCATCCACACAG	0.637																																						uc002fos.3		NaN																	0					0						c.(1462-1464)CTC>CTT		zinc finger protein 276 isoform a							76.0	59.0	65.0					16																	89800436		2198	4300	6498	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89800436C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1464C>T	16.37:g.89800436C>T						ZNF276_uc010ciq.2_Silent_p.L274L|ZNF276_uc002fop.2_Silent_p.L396L|ZNF276_uc002foq.3_Silent_p.L413L|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Silent_p.L274L|ZNF276_uc010cis.2_Silent_p.L247L|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Silent_p.L326L|ZNF276_uc010cit.1_Silent_p.L247L	p.L488L	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1561	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	488			C2H2-type 2.		Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.1464C>T	CCDS45554.1																																																																																				0.637	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287		10	19	0	0	0	0.010729	0	10	19		
DEF8	54849	broad.mit.edu	37	16	90016035	90016035	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:90016035G>A	ENST00000268676.7	+	2	251	c.162G>A	c.(160-162)acG>acA	p.T54T	DEF8_ENST00000563594.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000418391.2_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	54					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CGGGCAGGACGCGGGAGGCCA	0.677																																						uc002fpn.1		NaN																	0				central_nervous_system(1)	1						c.(160-162)ACG>ACA		differentially expressed in FDCP 8 isoform 1							36.0	36.0	36.0					16																	90016035		2198	4299	6497	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90016035G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.162G>A	16.37:g.90016035G>A						DEF8_uc002fpl.2_Intron|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_Intron|DEF8_uc002fpp.1_Intron|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Intron	p.T54T	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	251	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	54					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.162G>A	CCDS10989.1																																																																																				0.677	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1		NM_207514		4	19	0	0	0	0.009096	0	4	19		
GSG2	83903	broad.mit.edu	37	17	3628001	3628001	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:3628001G>C	ENST00000325418.4	+	1	791	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	258					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										TGAGGATTCTGAGTTTCGGGC	0.542																																						uc002fwp.2		NaN																	0					0						c.(772-774)GAG>CAG		haspin							62.0	74.0	70.0					17																	3628001		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628001G>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.772G>C	17.37:g.3628001G>C	ENSP00000325290:p.Glu258Gln					ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	p.E258Q	NM_031965	NP_114171	Q8TF76	HASP_HUMAN			1	805	+			258					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.772G>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465959	0.63625	.	.	ENSG00000177602	ENST00000325418	T	0.06528	3.29	3.95	1.96	0.26148	.	0.926712	0.08863	N	0.882787	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.39379	0.298	T	0.40627	-0.9553	10	0.87932	D	0	-35.3084	7.4211	0.27073	0.2106:0.0:0.7894:0.0	.	258	Q8TF76	HASP_HUMAN	Q	258	ENSP00000325290:E258Q	ENSP00000325290:E258Q	E	+	1	0	GSG2	3574750	0.025000	0.19082	0.001000	0.08648	0.419000	0.31324	1.226000	0.32563	0.616000	0.30141	0.655000	0.94253	GAG		0.542	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1		NM_031965		14	70	0	0	0	0.001855	0	14	70		
MYBBP1A	10514	broad.mit.edu	37	17	4455916	4455916	+	Silent	SNP	C	C	T	rs377058397		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:4455916C>T	ENST00000254718.4	-	6	873	c.567G>A	c.(565-567)tcG>tcA	p.S189S	MYBBP1A_ENST00000381556.2_Silent_p.S189S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	189	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ATGTGGCCTTCGAGACCTAAG	0.572																																						uc002fyb.3		NaN																	0				ovary(1)|skin(1)	2						c.(565-567)TCG>TCA		MYB binding protein 1a isoform 2		C	,	0,4406		0,0,2203	50.0	45.0	47.0		567,567	-11.6	0.0	17		47	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	189/1333,189/1329	4455916	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4455916C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.567G>A	17.37:g.4455916C>T						MYBBP1A_uc002fxz.3_Silent_p.S189S	p.S189S	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			6	629	-			189			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.567G>A	CCDS11046.1																																																																																				0.572	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2		NM_014520		8	33	0	0	0	0.008291	0	8	33		
BCL6B	255877	broad.mit.edu	37	17	6927018	6927018	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:6927018G>C	ENST00000293805.5	+	2	120	c.28G>C	c.(28-30)Gcg>Ccg	p.A10P	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	10					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CCCGGAGGGAGCGCTGGGCTA	0.662																																						uc002geg.2		NaN																	0				skin(1)	1						c.(28-30)GCG>CCG		B-cell CLL/lymphoma 6, member B (zinc finger							20.0	23.0	22.0					17																	6927018		2043	4179	6222	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6927018G>C	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.28G>C	17.37:g.6927018G>C	ENSP00000293805:p.Ala10Pro					BCL6B_uc010clt.1_Missense_Mutation_p.A10P	p.A10P	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			2	85	+			10					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.28G>C	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636205	0.96693	.	.	ENSG00000161940	ENST00000293805	T	0.07908	3.15	5.78	4.73	0.59995	BTB/POZ fold (1);	0.337390	0.27831	N	0.017674	T	0.04363	0.0120	N	0.05230	-0.09	0.28551	N	0.911597	B	0.33073	0.396	B	0.34722	0.188	T	0.14392	-1.0474	10	0.72032	D	0.01	.	6.6929	0.23183	0.1452:0.0:0.8548:0.0	.	10	Q8N143	BCL6B_HUMAN	P	10	ENSP00000293805:A10P	ENSP00000293805:A10P	A	+	1	0	BCL6B	6867742	0.991000	0.36638	0.996000	0.52242	0.994000	0.84299	1.780000	0.38634	2.734000	0.93682	0.655000	0.94253	GCG		0.662	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2		NM_181844		16	23	0	0	0	0.003163	0	16	23		
ATP1B2	482	broad.mit.edu	37	17	7557505	7557505	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:7557505C>G	ENST00000250111.4	+	4	889	c.482C>G	c.(481-483)tCc>tGc	p.S161C		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	161					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)		GGCAACTGCTCCGGCATTGGG	0.562																																						uc002gif.1		NaN																	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.(481-483)TCC>TGC		Na+/K+ -ATPase beta 2 subunit							153.0	155.0	154.0					17																	7557505		2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7557505C>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.482C>G	17.37:g.7557505C>G	ENSP00000250111:p.Ser161Cys						p.S161C	NM_001678	NP_001669	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	4	1065	+		all_cancers(10;0.000178)|Prostate(122;0.081)	161			Extracellular (Potential).		A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.482C>G	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341687	0.81911	.	.	ENSG00000129244	ENST00000250111	T	0.39406	1.08	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79212	-0.1896	10	0.87932	D	0	-6.3418	16.1614	0.81721	0.0:1.0:0.0:0.0	.	161	P14415	AT1B2_HUMAN	C	161	ENSP00000250111:S161C	ENSP00000250111:S161C	S	+	2	0	ATP1B2	7498230	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.162000	0.77515	2.408000	0.81797	0.561000	0.74099	TCC		0.562	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1		NM_001678		45	214	0	0	0	0.013114	0	45	214		
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		48	15	0	0	0	0.01441	0	48	15		
ARHGEF15	22899	broad.mit.edu	37	17	8222159	8222159	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:8222159C>T	ENST00000361926.3	+	12	2074	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S655L|ARHGEF15_ENST00000582060.1_3'UTR|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	655					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCTTTGCCTCGCGCCCCCGC	0.642																																						uc002glc.2		NaN																	0				ovary(2)|skin(1)	3						c.(1963-1965)TCG>TTG		Rho guanine exchange factor 15							128.0	146.0	140.0					17																	8222159		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222159C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1964C>T	17.37:g.8222159C>T	ENSP00000355026:p.Ser655Leu					ARHGEF15_uc002gld.2_Missense_Mutation_p.S655L|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S544L	p.S655L	NM_173728	NP_776089	O94989	ARHGF_HUMAN			12	2085	+			655					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1964C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	c	10.75	1.439249	0.25900	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.70986	-0.53;-0.53	4.84	3.85	0.44370	Pleckstrin homology-type (1);	0.450508	0.25208	N	0.032331	T	0.48660	0.1512	N	0.19112	0.55	0.34647	D	0.721249	B;B	0.31077	0.307;0.307	B;B	0.23018	0.043;0.043	T	0.54200	-0.8329	10	0.13470	T	0.59	-9.9981	10.0592	0.42263	0.3668:0.6332:0.0:0.0	.	655;655	D3DTR7;O94989	.;ARHGF_HUMAN	L	655;445;655	ENSP00000355026:S655L;ENSP00000412505:S655L	ENSP00000355026:S655L	S	+	2	0	ARHGEF15	8162884	0.987000	0.35691	0.989000	0.46669	0.758000	0.43043	2.607000	0.46300	1.228000	0.43614	0.561000	0.74099	TCG		0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2		NM_173728		33	293	0	0	0	0.003755	0	33	293		
MYH10	4628	broad.mit.edu	37	17	8424198	8424198	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:8424198C>G	ENST00000269243.4	-	17	2316	c.2178G>C	c.(2176-2178)caG>caC	p.Q726H	MYH10_ENST00000379980.4_Missense_Mutation_p.Q742H|MYH10_ENST00000360416.3_Missense_Mutation_p.Q757H|MYH10_ENST00000396239.1_Missense_Mutation_p.Q747H	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	726	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGCAATACCTCTGTCTGAATT	0.398																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(2176-2178)CAG>CAC		myosin, heavy polypeptide 10, non-muscle							73.0	72.0	73.0					17																	8424198		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8424198C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2178G>C	17.37:g.8424198C>G	ENSP00000269243:p.Gln726His					MYH10_uc002glm.2_Missense_Mutation_p.Q757H|MYH10_uc010cnx.2_Missense_Mutation_p.Q735H	p.Q726H	NM_005964	NP_005955	P35580	MYH10_HUMAN			17	2274	-			726			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.2178G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486563	0.63962	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.19	3.22	0.36961	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	L	0.55990	1.75	0.48830	D	0.999712	D;D;D	0.71674	0.995;0.998;0.995	D;D;D	0.70716	0.934;0.97;0.934	D	0.88521	0.3096	10	0.87932	D	0	.	7.8187	0.29276	0.0:0.6906:0.0:0.3094	.	735;757;726	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	H	726;757;747;742	ENSP00000269243:Q726H;ENSP00000353590:Q757H;ENSP00000379539:Q747H;ENSP00000369315:Q742H	ENSP00000269243:Q726H	Q	-	3	2	MYH10	8364923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.012000	0.40932	0.789000	0.33779	0.655000	0.94253	CAG		0.398	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				5	43	0	0	0	0.000602	0	5	43		
TVP23C	201158	broad.mit.edu	37	17	15406428	15406428	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:15406428G>A	ENST00000225576.3	-	6	676	c.581C>T	c.(580-582)tCg>tTg	p.S194L	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Missense_Mutation_p.S151L	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	194						integral component of membrane (GO:0016021)											AAACTTCCTCGAGGGATggcc	0.562																																						uc002goq.2		NaN																	0					0						c.(580-582)TCG>TTG		hypothetical protein LOC201158 isoform 1							27.0	28.0	28.0					17																	15406428		2203	4300	6503	SO:0001583	missense	201158					integral to membrane		g.chr17:15406428G>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.581C>T	17.37:g.15406428G>A	ENSP00000225576:p.Ser194Leu					CDRT4_uc010vvw.1_Missense_Mutation_p.S151L|FAM18B2_uc010vvx.1_Intron	p.S194L	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)	6	764	-			194					Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	c.581C>T	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	G	8.151	0.787419	0.16258	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106	ENST00000557349;ENST00000519970;ENST00000225576	T	0.22336	1.96	1.43	-0.729	0.11158	.	1.528970	0.04051	N	0.304778	T	0.10508	0.0257	N	0.25245	0.725	0.09310	N	1	B;P	0.47604	0.0;0.898	B;B	0.29353	0.0;0.101	T	0.24870	-1.0148	10	0.52906	T	0.07	.	4.7309	0.12964	0.1695:0.2265:0.604:0.0	.	151;194	B4E0Q0;Q96ET8	.;F18B2_HUMAN	L	151;151;194	ENSP00000225576:S194L	ENSP00000225576:S194L	S	-	2	0	RP11-726O12.1;FAM18B2	15347153	0.033000	0.19621	0.021000	0.16686	0.013000	0.08279	-0.162000	0.10012	-0.637000	0.05516	-2.042000	0.00416	TCG		0.562	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2		NM_145301		3	20	0	0	0	0.004672	0	3	20		
TRIM16	10626	broad.mit.edu	37	17	15532172	15532172	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:15532172C>T	ENST00000578237.1	-	11	2307	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	TRIM16_ENST00000416464.2_Silent_p.E354E|TRIM16_ENST00000577886.1_Silent_p.E268E|TRIM16_ENST00000579219.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000336708.7_Silent_p.E484E			O95361	TRI16_HUMAN	tripartite motif containing 16	484	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGAGTGGGGTCTCCATGTCAC	0.552																																						uc002gox.2		NaN																	0				ovary(2)|skin(1)	3						c.(1450-1452)GAG>GAA		tripartite motif-containing 16							71.0	70.0	71.0					17																	15532172		2203	4300	6503	SO:0001819	synonymous_variant	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15532172C>T	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1452G>A	17.37:g.15532172C>T						TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Silent_p.E268E|TRIM16_uc002goy.2_Silent_p.E354E	p.E484E	NM_006470	NP_006461	O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	9	2009	-			484			B30.2/SPRY.		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	c.1452G>A	CCDS11171.1																																																																																				0.552	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2		NM_006470		21	80	0	0	0	0.010504	0	21	80		
TOP3A	7156	broad.mit.edu	37	17	18188586	18188586	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:18188586C>T	ENST00000321105.5	-	15	1961	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	TOP3A_ENST00000540524.1_Missense_Mutation_p.D113N|TOP3A_ENST00000542570.1_Missense_Mutation_p.D488N	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	583					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCCGGAGGTCAGGCTTAGAC	0.517																																						uc002gsx.1		NaN																	0				skin(3)	3						c.(1747-1749)GAC>AAC		topoisomerase (DNA) III alpha							113.0	105.0	108.0					17																	18188586		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18188586C>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1747G>A	17.37:g.18188586C>T	ENSP00000321636:p.Asp583Asn					TOP3A_uc010cpz.1_Missense_Mutation_p.D35N|TOP3A_uc010vxr.1_Missense_Mutation_p.D113N|TOP3A_uc002gsw.1_Missense_Mutation_p.D35N|TOP3A_uc010vxs.1_Missense_Mutation_p.D481N	p.D583N	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			15	1976	-			583					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1747G>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553086	0.45487	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.23147	1.92;1.92;1.92	5.4	2.27	0.28462	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.173147	0.64402	N	0.000006	T	0.14960	0.0361	N	0.26162	0.8	0.53688	D	0.999974	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.002	T	0.08554	-1.0716	10	0.10111	T	0.7	-22.2336	10.5961	0.45338	0.0:0.7871:0.0:0.2129	.	488;583	B4DK80;Q13472	.;TOP3A_HUMAN	N	583;113;488	ENSP00000321636:D583N;ENSP00000446425:D113N;ENSP00000442336:D488N	ENSP00000321636:D583N	D	-	1	0	TOP3A	18129311	0.984000	0.35163	0.927000	0.36925	0.979000	0.70002	2.552000	0.45828	0.621000	0.30232	0.603000	0.83216	GAC		0.517	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2				17	61	0	0	0	0.004007	0	17	61		
RPL23A	6147	broad.mit.edu	37	17	27047838	27047838	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:27047838C>T	ENST00000422514.2	+	2	752	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	RAB34_ENST00000301043.6_5'Flank|SNORD4B_ENST00000459083.1_RNA|RAB34_ENST00000450529.1_5'Flank|RPL23A_ENST00000472628.1_5'UTR|SNORD42B_ENST00000458893.1_RNA|SNORD4A_ENST00000459174.1_RNA|RAB34_ENST00000447716.1_5'Flank|AC010761.8_ENST00000582718.1_RNA|RAB34_ENST00000453384.3_5'Flank|RAB34_ENST00000436730.3_5'Flank|RAB34_ENST00000395242.2_5'Flank|RPL23A_ENST00000394938.4_Missense_Mutation_p.R85W|RAB34_ENST00000395245.3_5'Flank|RAB34_ENST00000415040.2_5'Flank|SNORD42A_ENST00000459584.1_RNA|RPL23A_ENST00000496182.1_5'UTR	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	47					cell proliferation (GO:0008283)|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)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					ACCCACCTTCCGGCGGCCGAA	0.537											OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hci.2		NaN																	0				ovary(1)	1						c.(139-141)CGG>TGG		ribosomal protein L23a							42.0	48.0	46.0					17																	27047838		2191	4281	6472	SO:0001583	missense	6147				cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr17:27047838C>T	U43701	CCDS11241.1	17q11.2	2011-04-06			ENSG00000198242	ENSG00000198242		"""L ribosomal proteins"""	10317	protein-coding gene	gene with protein product		602326				9417910	Standard	NM_000984		Approved	L23A	uc002hci.3	P62750	OTTHUMG00000132684	ENST00000422514.2:c.139C>T	17.37:g.27047838C>T	ENSP00000389103:p.Arg47Trp		OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	791	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank	p.R47W	NM_000984	NP_000975	P62750	RL23A_HUMAN			2	163	+	Lung NSC(42;0.00431)		47					B2R5B2|P29316|P39024|Q92774	Missense_Mutation	SNP	ENST00000422514.2	37	c.139C>T	CCDS11241.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265302	0.59431	.	.	ENSG00000198242	ENST00000422514;ENST00000394938;ENST00000394935	.	.	.	5.83	4.83	0.62350	Ribosomal protein L23/L25, N-terminal (1);	0.607866	0.11942	U	0.514613	T	0.40398	0.1115	N	0.10874	0.06	0.80722	D	1	B	0.16603	0.018	B	0.12837	0.008	T	0.16217	-1.0410	9	0.36615	T	0.2	-20.9332	13.7105	0.62665	0.3568:0.6432:0.0:0.0	.	47	P62750	RL23A_HUMAN	W	47;85;49	.	ENSP00000378393:R49W	R	+	1	2	RPL23A	24071965	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.889000	0.39718	2.765000	0.95021	0.563000	0.77884	CGG		0.537	RPL23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255975.1		NM_000984		19	49	0	0	0	0.003954	0	19	49		
CPD	1362	broad.mit.edu	37	17	28747979	28747979	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:28747979C>T	ENST00000225719.4	+	3	1191	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	CPD_ENST00000543464.2_Missense_Mutation_p.S125F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	372	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AATCGTGAGTCTTTGATCACA	0.398																																						uc002hfb.1		NaN																	0				liver(1)|skin(1)	2						c.(1114-1116)TCT>TTT		carboxypeptidase D precursor							115.0	104.0	108.0					17																	28747979		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28747979C>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1115C>T	17.37:g.28747979C>T	ENSP00000225719:p.Ser372Phe					CPD_uc010wbo.1_Missense_Mutation_p.S125F|CPD_uc010wbp.1_RNA	p.S372F	NM_001304	NP_001295	O75976	CBPD_HUMAN			3	1130	+			372			Extracellular (Potential).|Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1115C>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017517	0.93404	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.09350	3.91;2.99	5.81	5.81	0.92471	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.987	T	0.42068	-0.9473	10	0.87932	D	0	.	19.4253	0.94739	0.0:1.0:0.0:0.0	.	125;372	F5GZH6;O75976	.;CBPD_HUMAN	F	372;125	ENSP00000225719:S372F;ENSP00000444443:S125F	ENSP00000225719:S372F	S	+	2	0	CPD	25772105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.688000	0.84153	2.906000	0.99361	0.655000	0.94253	TCT		0.398	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		5	61	0	0	0	0.001168	0	5	61		
CPD	1362	broad.mit.edu	37	17	28749808	28749808	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:28749808C>G	ENST00000225719.4	+	5	1500	c.1424C>G	c.(1423-1425)tCa>tGa	p.S475*	CPD_ENST00000543464.2_Nonsense_Mutation_p.S228*	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	475	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GAGGCTGTATCAACTGCTAGC	0.448																																						uc002hfb.1		NaN																	0				liver(1)|skin(1)	2						c.(1423-1425)TCA>TGA		carboxypeptidase D precursor							117.0	108.0	111.0					17																	28749808		2203	4300	6503	SO:0001587	stop_gained	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28749808C>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1424C>G	17.37:g.28749808C>G	ENSP00000225719:p.Ser475*					CPD_uc010wbo.1_Nonsense_Mutation_p.S228*|CPD_uc010wbp.1_RNA	p.S475*	NM_001304	NP_001295	O75976	CBPD_HUMAN			5	1439	+			475			Extracellular (Potential).|Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Nonsense_Mutation	SNP	ENST00000225719.4	37	c.1424C>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	38	6.897766	0.97920	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	.	.	.	5.87	1.57	0.23409	.	1.560040	0.03394	N	0.202339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	9.3811	0.38313	0.0:0.7063:0.0:0.2937	.	.	.	.	X	475;228	.	ENSP00000225719:S475X	S	+	2	0	CPD	25773934	0.178000	0.23122	0.183000	0.23137	0.841000	0.47740	1.482000	0.35486	0.327000	0.23409	0.650000	0.86243	TCA		0.448	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		7	117	0	0	0	0.001984	0	7	117		
ATAD5	79915	broad.mit.edu	37	17	29184080	29184080	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:29184080G>A	ENST00000321990.4	+	8	3121	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	915					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGCTCTTGGTGAATTTTCAAC	0.353																																						uc002hfs.1		NaN																	0				ovary(3)	3						c.(2743-2745)GAA>AAA		ATPase family, AAA domain containing 5							118.0	115.0	116.0					17																	29184080		2202	4300	6502	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29184080G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2743G>A	17.37:g.29184080G>A	ENSP00000313171:p.Glu915Lys					ATAD5_uc002hft.1_Missense_Mutation_p.E812K	p.E915K	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			8	3089	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	915					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.2743G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829526	0.50845	.	.	ENSG00000176208	ENST00000321990	D	0.86366	-2.11	5.36	5.36	0.76844	.	0.297601	0.38326	N	0.001739	D	0.91250	0.7242	M	0.69823	2.125	0.41732	D	0.989562	P;D	0.63880	0.927;0.993	P;P	0.58391	0.677;0.838	D	0.89589	0.3826	10	0.26408	T	0.33	.	17.277	0.87119	0.0:0.0:1.0:0.0	.	915;915	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	K	915	ENSP00000313171:E915K	ENSP00000313171:E915K	E	+	1	0	ATAD5	26208206	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.030000	0.70903	2.489000	0.83994	0.591000	0.81541	GAA		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857		19	43	0	0	0	0.006122	0	19	43		
ATAD5	79915	broad.mit.edu	37	17	29221167	29221167	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:29221167G>C	ENST00000321990.4	+	21	5674	c.5296G>C	c.(5296-5298)Gac>Cac	p.D1766H		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1766					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGCTAATTTAGAGTAAGTCTT	0.294																																						uc002hfs.1		NaN																	0				ovary(3)	3						c.(5296-5298)GAC>CAC		ATPase family, AAA domain containing 5							25.0	26.0	26.0					17																	29221167		2178	4243	6421	SO:0001630	splice_region_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29221167G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5297+1G>C	17.37:g.29221167G>C							p.D1766H	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			21	5642	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1766					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.5296G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397907	0.42512	.	.	ENSG00000176208	ENST00000321990	T	0.09163	3.01	6.08	4.09	0.47781	.	0.424754	0.29133	N	0.013045	T	0.10895	0.0266	M	0.64997	1.995	0.29650	N	0.844027	P	0.45902	0.868	B	0.39805	0.31	T	0.20605	-1.0270	10	0.59425	D	0.04	.	4.1523	0.10244	0.2544:0.0:0.5787:0.1669	.	1766	Q96QE3	ATAD5_HUMAN	H	1766	ENSP00000313171:D1766H	ENSP00000313171:D1766H	D	+	1	0	ATAD5	26245293	0.994000	0.37717	0.999000	0.59377	0.957000	0.61999	1.690000	0.37711	0.890000	0.36211	0.591000	0.81541	GAC		0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857	Missense_Mutation	4	31	0	0	0	0.009096	0	4	31		
RHOT1	55288	broad.mit.edu	37	17	30525994	30525994	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:30525994G>A	ENST00000333942.6	+	12	1137	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.E300K|RHOT1_ENST00000358365.3_Missense_Mutation_p.E300K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E279K|RHOT1_ENST00000581094.1_Missense_Mutation_p.E300K|RHOT1_ENST00000394692.2_Missense_Mutation_p.E300K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E173K	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	300					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTGCACTACTGAATTAAATCA	0.259																																						uc002hgz.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(898-900)GAA>AAA		ras homolog gene family, member T1 isoform 3							68.0	68.0	68.0					17																	30525994		2202	4299	6501	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30525994G>A	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.898G>A	17.37:g.30525994G>A	ENSP00000334724:p.Glu300Lys					RHOT1_uc002hgw.2_Missense_Mutation_p.E300K|RHOT1_uc002hgy.2_Missense_Mutation_p.E300K|RHOT1_uc002hha.2_Missense_Mutation_p.E173K|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.E173K|RHOT1_uc010wby.1_Missense_Mutation_p.E300K|RHOT1_uc002hhb.2_Missense_Mutation_p.E279K|RHOT1_uc002hgv.2_Missense_Mutation_p.E300K	p.E300K	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			12	1137	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	300			Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.898G>A	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691628	0.68271	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.57595	0.39;0.39;0.39	5.56	5.56	0.83823	EF hand associated, type-2 (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	H	0.96301	3.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.991;0.985;0.985	D	0.87829	0.2643	10	0.87932	D	0	-14.792	19.5295	0.95223	0.0:0.0:1.0:0.0	.	300;300;300;300	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	K	300	ENSP00000351132:E300K;ENSP00000378184:E300K;ENSP00000334724:E300K	ENSP00000334724:E300K	E	+	1	0	RHOT1	27550107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.515000	0.98015	2.598000	0.87819	0.650000	0.86243	GAA		0.259	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1		NM_018307		26	82	0	0	0	0.005443	0	26	82		
RDM1	201299	broad.mit.edu	37	17	34251717	34251717	+	Silent	SNP	C	C	T	rs373207074		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:34251717C>T	ENST00000293273.6	-	4	504	c.459G>A	c.(457-459)ccG>ccA	p.P153P	RDM1_ENST00000419453.2_Silent_p.P130P|RDM1_ENST00000430160.2_Silent_p.P130P|RDM1_ENST00000394528.3_Silent_p.P153P|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394529.3_Silent_p.P130P|RDM1_ENST00000431884.2_Silent_p.P153P|RDM1_ENST00000394527.1_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	153					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCTTTGCTTCGGAAGTGGCA	0.468								Other identified genes with known or suspected DNA repair function																														uc002hkh.2		NaN																	0				ovary(1)	1						c.(457-459)CCG>CCA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RAD52 motif 1 isoform 1		C	,,,,,,,	0,4406		0,0,2203	111.0	101.0	105.0		459,,459,390,,,390,459	-0.1	0.0	17		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,coding-synonymous	RDM1	NM_001034836.1,NM_001163120.1,NM_001163121.1,NM_001163122.1,NM_001163124.1,NM_001163125.1,NM_001163130.1,NM_145654.3	,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,	153/237,,153/252,130/229,,,130/262,153/285	34251717	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34251717C>T	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.459G>A	17.37:g.34251717C>T						RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Silent_p.P130P|RDM1_uc002hkg.3_Silent_p.P130P|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Silent_p.P153P|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Silent_p.P130P|RDM1_uc002hki.2_Silent_p.P153P	p.P153P	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	508	-		Ovarian(249;0.17)	153					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Silent	SNP	ENST00000293273.6	37	c.459G>A	CCDS11301.1																																																																																				0.468	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2		NM_145654		32	82	0	0	0	0.008361	0	32	82		
MRM1	79922	broad.mit.edu	37	17	34964210	34964210	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:34964210C>T	ENST00000585770.1	+	3	414	c.156C>T	c.(154-156)ctC>ctT	p.L52L	MRM1_ENST00000250156.7_Silent_p.L247L					mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)											NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGAGTTCCTCTGGGAACGGC	0.612																																						uc002hne.2		NaN																	0					0						c.(739-741)CTC>CTT		mitochondrial rRNA methyltransferase 1 homolog							146.0	138.0	141.0					17																	34964210		2203	4300	6503	SO:0001819	synonymous_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34964210C>T	AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619			26202	protein-coding gene	gene with protein product						24036117	Standard	NM_024864		Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.156C>T	17.37:g.34964210C>T						MRM1_uc002hnf.2_Silent_p.L52L	p.L247L	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	3	956	+		Breast(25;0.00957)|Ovarian(249;0.17)	247						Silent	SNP	ENST00000585770.1	37	c.741C>T																																																																																					0.612	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000451392.1		NM_024864		15	87	0	0	0	0.003163	0	15	87		
ACACA	31	broad.mit.edu	37	17	35614676	35614676	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:35614676G>C	ENST00000394406.2	-	14	1854	c.1664C>G	c.(1663-1665)tCt>tGt	p.S555C	ACACA_ENST00000360679.3_Missense_Mutation_p.S497C|ACACA_ENST00000335166.5_Missense_Mutation_p.S477C|ACACA_ENST00000353139.5_Missense_Mutation_p.S592C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	555	Biotin carboxylation.				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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACCAAACTGAGAATCAGCAAA	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1663-1665)TCT>TGT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						91.0	86.0	88.0					17																	35614676		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35614676G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1664C>G	17.37:g.35614676G>C	ENSP00000377928:p.Ser555Cys					ACACA_uc002hnk.2_Missense_Mutation_p.S477C|ACACA_uc002hnl.2_Missense_Mutation_p.S497C|ACACA_uc002hnn.2_Missense_Mutation_p.S555C|ACACA_uc002hno.2_Missense_Mutation_p.S592C|ACACA_uc010cuz.2_Missense_Mutation_p.S555C	p.S555C	NM_198836	NP_942133	Q13085	ACACA_HUMAN			14	1855	-		Breast(25;0.00157)|Ovarian(249;0.15)	555			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1664C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021060	0.93462	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.93	5.93	0.95920	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81833	0.4906	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.967;1.0;1.0	D	0.87867	0.2668	10	0.87932	D	0	-15.8873	19.3421	0.94347	0.0:0.0:1.0:0.0	.	592;555;497	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	592;497;555;579;477	ENSP00000344789:S592C;ENSP00000353898:S497C;ENSP00000377928:S555C;ENSP00000335323:S477C	ENSP00000335323:S477C	S	-	2	0	ACACA	32688789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TCT		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		11	63	0	0	0	0.008291	0	11	63		
ZPBP2	124626	broad.mit.edu	37	17	38027018	38027018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:38027018G>T	ENST00000348931.4	+	3	381	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	ZPBP2_ENST00000584588.1_Nonsense_Mutation_p.E64*|ZPBP2_ENST00000377940.3_Nonsense_Mutation_p.E42*	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	64					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCTAAAAAAGAAATAGTGGA	0.284																																						uc002hte.2		NaN																	0				ovary(1)	1						c.(190-192)GAA>TAA		zona pellucida binding protein 2 isoform 2							54.0	58.0	57.0					17																	38027018		2202	4282	6484	SO:0001587	stop_gained	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38027018G>T	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.190G>T	17.37:g.38027018G>T	ENSP00000335384:p.Glu64*					ZPBP2_uc002htf.2_Nonsense_Mutation_p.E42*	p.E64*	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	343	+	Colorectal(19;0.000442)		64					A8K8L8|Q6X783|Q86XL5	Nonsense_Mutation	SNP	ENST00000348931.4	37	c.190G>T	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966473	0.92855	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	.	.	.	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.4683	11.5789	0.50879	0.0844:0.0:0.9156:0.0	.	.	.	.	X	64;42	.	ENSP00000335384:E64X	E	+	1	0	ZPBP2	35280544	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.878000	0.56130	2.826000	0.97356	0.563000	0.77884	GAA		0.284	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2		NM_198844		5	58	1	0	3.59834e-05	0.001168	3.69621e-05	5	58		
ZPBP2	124626	broad.mit.edu	37	17	38027764	38027764	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:38027764G>C	ENST00000348931.4	+	4	483	c.292G>C	c.(292-294)Gat>Cat	p.D98H	ZPBP2_ENST00000584588.1_Missense_Mutation_p.D98H|ZPBP2_ENST00000377940.3_Missense_Mutation_p.D76H	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	98					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATGGTGAAAGATTTTTTGGA	0.284																																						uc002hte.2		NaN																	0				ovary(1)	1						c.(292-294)GAT>CAT		zona pellucida binding protein 2 isoform 2							100.0	105.0	103.0					17																	38027764		2203	4299	6502	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38027764G>C	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.292G>C	17.37:g.38027764G>C	ENSP00000335384:p.Asp98His					ZPBP2_uc002htf.2_Missense_Mutation_p.D76H	p.D98H	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	445	+	Colorectal(19;0.000442)		98					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.292G>C	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995323	0.54147	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.78364	-1.17;-1.17	5.46	4.41	0.53225	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.267991	0.32386	N	0.006178	T	0.81964	0.4934	L	0.50333	1.59	0.30642	N	0.756321	D;D	0.71674	0.993;0.998	D;D	0.68621	0.947;0.959	T	0.78209	-0.2293	10	0.38643	T	0.18	-20.9292	10.4439	0.44481	0.1267:0.0:0.8733:0.0	.	76;98	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	H	98;76	ENSP00000335384:D98H;ENSP00000367174:D76H	ENSP00000335384:D98H	D	+	1	0	ZPBP2	35281290	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.407000	0.44565	2.563000	0.86464	0.460000	0.39030	GAT		0.284	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2		NM_198844		17	131	0	0	0	0.006122	0	17	131		
ACLY	47	broad.mit.edu	37	17	40028327	40028327	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:40028327C>T	ENST00000352035.2	-	24	2881	c.2751G>A	c.(2749-2751)ggG>ggA	p.G917G	ACLY_ENST00000393896.2_Silent_p.G907G|ACLY_ENST00000537919.1_Silent_p.G646G|ACLY_ENST00000353196.1_Silent_p.G907G|ACLY_ENST00000590151.1_Silent_p.G917G|ACLY_ENST00000588779.1_5'Flank	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	917				AGKD -> TAVE (in Ref. 1; CAA45614). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCAGGTCTTTCCCAGCTCGCG	0.567																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2749-2751)GGG>GGA		ATP citrate lyase isoform 1							80.0	68.0	72.0					17																	40028327		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40028327C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2751G>A	17.37:g.40028327C>T						ACLY_uc002hyh.2_Silent_p.G907G|ACLY_uc002hyi.2_Silent_p.G971G|ACLY_uc010wfx.1_Silent_p.G961G|ACLY_uc010wfy.1_Silent_p.G646G	p.G917G	NM_001096	NP_001087	P53396	ACLY_HUMAN			24	2914	-		Breast(137;0.000143)	917	AGKD -> TAVE (in Ref. 1; CAA45614).				B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.2751G>A	CCDS11412.1																																																																																				0.567	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096		4	37	0	0	0	0.009096	0	4	37		
ACLY	47	broad.mit.edu	37	17	40039486	40039486	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:40039486C>A	ENST00000352035.2	-	20	2285		c.e20-1		ACLY_ENST00000393896.2_Splice_Site|ACLY_ENST00000537919.1_Splice_Site|ACLY_ENST00000353196.1_Splice_Site|ACLY_ENST00000590151.1_Splice_Site	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase						ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGCCCCCAATCTGCCAAGGAA	0.517																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.e20-1		ATP citrate lyase isoform 1							57.0	56.0	56.0					17																	40039486		2203	4300	6503	SO:0001630	splice_region_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40039486C>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2155-1G>T	17.37:g.40039486C>A						ACLY_uc002hyh.2_Splice_Site_p.I709_splice|ACLY_uc002hyi.2_Splice_Site_p.I773_splice|ACLY_uc010wfx.1_Splice_Site_p.I763_splice|ACLY_uc010wfy.1_Splice_Site_p.I448_splice	p.I719_splice	NM_001096	NP_001087	P53396	ACLY_HUMAN			20	2318	-		Breast(137;0.000143)						B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	ENST00000352035.2	37	c.2155_splice	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187974	0.78789	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8316	0.96638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACLY	37293012	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	7.770000	0.85390	2.687000	0.91594	0.563000	0.77884	.		0.517	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096	Intron	26	37	1	0	1.33986e-20	0.004656	1.4679e-20	26	37		
PLEKHM1	9842	broad.mit.edu	37	17	43515225	43515225	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:43515225C>T	ENST00000430334.3	-	12	3303	c.3170G>A	c.(3169-3171)tGa>tAa	p.*1057*	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.*968*	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	0					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGATGGGCATCAGGCGAAAAT	0.627																																						uc002ija.2		NaN																	0					0						c.(3169-3171)TGA>TAA		pleckstrin homology domain containing, family M							58.0	60.0	59.0					17																	43515225		2203	4300	6503	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43515225C>T	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.3170G>A	17.37:g.43515225C>T						PLEKHM1_uc010wjm.1_Silent_p.*1029*|PLEKHM1_uc002ijb.2_Silent_p.*532*	p.*1057*	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			12	3340	-	Renal(3;0.0405)		1057					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.3170G>A	CCDS32671.1																																																																																				0.627	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1		NM_014798		5	42	0	0	0	0.000602	0	5	42		
OSBPL7	114881	broad.mit.edu	37	17	45897373	45897373	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:45897373G>A	ENST00000007414.3	-	3	356	c.165C>T	c.(163-165)ctC>ctT	p.L55L	OSBPL7_ENST00000392507.3_Silent_p.L55L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	55	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TCCTCTTCTTGAGCAGGTGAC	0.652																																						uc002ilx.1		NaN																	0					0						c.(163-165)CTC>CTT		oxysterol-binding protein-like protein 7							35.0	31.0	32.0					17																	45897373		2203	4300	6503	SO:0001819	synonymous_variant	114881				lipid transport		lipid binding	g.chr17:45897373G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.165C>T	17.37:g.45897373G>A							p.L55L	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN			3	368	-			55			PH.		D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	c.165C>T	CCDS11515.1																																																																																				0.652	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1		NM_017731		3	24	0	0	0	0.004672	0	3	24		
OSBPL7	114881	broad.mit.edu	37	17	45897592	45897592	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:45897592G>C	ENST00000007414.3	-	2	244	c.53C>G	c.(52-54)tCa>tGa	p.S18*	OSBPL7_ENST00000392507.3_Nonsense_Mutation_p.S18*	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	18					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCTGGGCTTTGAGGACTGAGC	0.637																																						uc002ilx.1		NaN																	0					0						c.(52-54)TCA>TGA		oxysterol-binding protein-like protein 7							63.0	56.0	58.0					17																	45897592		2203	4300	6503	SO:0001587	stop_gained	114881				lipid transport		lipid binding	g.chr17:45897592G>C	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.53C>G	17.37:g.45897592G>C	ENSP00000007414:p.Ser18*						p.S18*	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN			2	256	-			18					D3DTT6|Q6PIV6	Nonsense_Mutation	SNP	ENST00000007414.3	37	c.53C>G	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	40	8.284090	0.98742	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	.	.	.	4.44	4.44	0.53790	.	0.792456	0.11549	N	0.552950	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	0.6496	12.4474	0.55659	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000007414:S18X	S	-	2	0	OSBPL7	43252591	0.313000	0.24554	0.945000	0.38365	0.878000	0.50629	2.690000	0.47001	2.294000	0.77228	0.561000	0.74099	TCA		0.637	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1		NM_017731		4	24	0	0	0	0.009096	0	4	24		
ABCC3	8714	broad.mit.edu	37	17	48735563	48735563	+	Missense_Mutation	SNP	G	G	A	rs376037553		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:48735563G>A	ENST00000285238.8	+	5	687	c.607G>A	c.(607-609)Gac>Aac	p.D203N	ABCC3_ENST00000427699.1_Missense_Mutation_p.D203N	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	203					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AAAGAATGTCGACCCTGTGAG	0.567																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(607-609)GAC>AAC		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	131.0	121.0	124.0		607,607	3.0	0.0	17		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABCC3	NM_001144070.1,NM_003786.3	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	203/573,203/1528	48735563	1,13005	2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48735563G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.607G>A	17.37:g.48735563G>A	ENSP00000285238:p.Asp203Asn					ABCC3_uc002isk.3_Missense_Mutation_p.D203N	p.D203N	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		5	687	+			203			Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.607G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945137	0.53079	0.0	1.16E-4	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.87029	-2.2;-2.2	6.04	3.02	0.34903	.	0.119196	0.53938	D	0.000045	T	0.80819	0.4696	L	0.52011	1.625	0.47094	D	0.999317	B;B	0.27286	0.166;0.174	B;B	0.26202	0.026;0.067	T	0.72207	-0.4360	10	0.19147	T	0.46	-28.019	9.4014	0.38435	0.2199:0.0:0.7801:0.0	.	203;203	O15438;O15438-5	MRP3_HUMAN;.	N	203	ENSP00000395160:D203N;ENSP00000285238:D203N	ENSP00000285238:D203N	D	+	1	0	ABCC3	46090562	1.000000	0.71417	0.034000	0.17996	0.106000	0.19336	4.136000	0.58004	0.903000	0.36546	0.561000	0.74099	GAC		0.567	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		15	74	0	0	0	0.00499	0	15	74		
TRIM25	7706	broad.mit.edu	37	17	54991173	54991173	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:54991173C>T	ENST00000316881.4	-	1	226	c.177G>A	c.(175-177)gcG>gcA	p.A59A	TRIM25_ENST00000537230.1_Silent_p.A59A	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	59					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCTGCGGTCGCGCCTGGTAGA	0.692																																						uc002iut.2		NaN																	0				lung(1)|breast(1)|skin(1)	3						c.(175-177)GCG>GCA		tripartite motif-containing 25							11.0	10.0	10.0					17																	54991173		2162	4241	6403	SO:0001819	synonymous_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54991173C>T	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.177G>A	17.37:g.54991173C>T						TRIM25_uc010dcj.2_5'UTR	p.A59A	NM_005082	NP_005073	Q14258	TRI25_HUMAN			1	237	-	Breast(9;6.15e-08)		59						Silent	SNP	ENST00000316881.4	37	c.177G>A	CCDS11591.1																																																																																				0.692	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1		NM_005082		3	7	0	0	0	0.004672	0	3	7		
BZRAP1	9256	broad.mit.edu	37	17	56405156	56405156	+	Silent	SNP	G	G	A	rs148586326		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:56405156G>A	ENST00000343736.4	-	1	289	c.126C>T	c.(124-126)atC>atT	p.I42I	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000268893.6_Silent_p.I42I|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1_ENST00000355701.3_Silent_p.I42I|BZRAP1-AS1_ENST00000578334.1_RNA			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	42						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTATCAGCGATGCTTGGGG	0.637																																						uc002ivx.3		NaN																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(124-126)ATC>ATT		peripheral benzodiazepine receptor-associated		G	,	0,4406		0,0,2203	69.0	63.0	65.0		126,126	-3.4	0.0	17	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BZRAP1	NM_004758.2,NM_024418.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	42/1858,42/1798	56405156	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56405156G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.126C>T	17.37:g.56405156G>A						BZRAP1_uc010dcs.2_Silent_p.I42I|BZRAP1_uc010wnt.1_Silent_p.I42I|uc010dct.1_5'Flank|uc010dcu.1_5'Flank	p.I42I	NM_004758	NP_004749	O95153	RIMB1_HUMAN			1	997	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		42					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.126C>T	CCDS11605.1																																																																																				0.637	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1		NM_004758		4	31	0	0	0	0.009096	0	4	31		
INTS2	57508	broad.mit.edu	37	17	59949655	59949655	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:59949655C>T	ENST00000444766.3	-	20	2848	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	Y_RNA_ENST00000365491.1_RNA|INTS2_ENST00000251334.6_Missense_Mutation_p.E917K	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	925					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTTTTCAATTCTTCCCTGGTA	0.388																																						uc002izn.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(2773-2775)GAA>AAA		integrator complex subunit 2							95.0	82.0	86.0					17																	59949655		1823	4081	5904	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59949655C>T	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2773G>A	17.37:g.59949655C>T	ENSP00000414237:p.Glu925Lys					INTS2_uc002izm.2_Missense_Mutation_p.E917K	p.E925K	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			20	2849	-			925					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.2773G>A	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383953	0.95967	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.55930	0.49	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.73962	2.25	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.72649	-0.4229	9	.	.	.	-14.8079	18.0965	0.89492	0.0:1.0:0.0:0.0	.	925	Q9H0H0	INT2_HUMAN	K	925;924	ENSP00000414237:E925K	.	E	-	1	0	INTS2	57304437	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.027000	0.76463	2.579000	0.87056	0.557000	0.71058	GAA		0.388	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1		NM_020748		14	28	0	0	0	0.00245	0	14	28		
SCN4A	6329	broad.mit.edu	37	17	62018968	62018968	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:62018968C>T	ENST00000435607.1	-	24	4750	c.4674G>A	c.(4672-4674)gaG>gaA	p.E1558E	SCN4A_ENST00000578147.1_Silent_p.E1558E	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1558					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCCGGGTTCTCCAGGTTGG	0.602																																						uc002jds.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4672-4674)GAG>GAA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						33.0	38.0	36.0					17																	62018968		2095	4231	6326	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018968C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4674G>A	17.37:g.62018968C>T							p.E1558E	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	4751	-			1558			IV.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.4674G>A	CCDS45761.1																																																																																				0.602	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_000334		13	28	0	0	0	0.001855	0	13	28		
CACNG1	786	broad.mit.edu	37	17	65052309	65052309	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:65052309C>T	ENST00000226021.3	+	4	662	c.591C>T	c.(589-591)ctC>ctT	p.L197L		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	197					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCGGCGGTCTCGCCCTCCTGC	0.612																																						uc002jfu.2		NaN																	0					0						c.(589-591)CTC>CTT		voltage-dependent calcium channel gamma-1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						169.0	126.0	141.0					17																	65052309		2203	4300	6503	SO:0001819	synonymous_variant	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65052309C>T	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.591C>T	17.37:g.65052309C>T							p.L197L	NM_000727	NP_000718	Q06432	CCG1_HUMAN			4	662	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		197			Helical; (Potential).		B2R9N3|Q14D59	Silent	SNP	ENST00000226021.3	37	c.591C>T	CCDS11668.1																																																																																				0.612	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1				11	63	0	0	0	0.010729	0	11	63		
MAP2K6	5608	broad.mit.edu	37	17	67519677	67519677	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:67519677C>T	ENST00000590474.1	+	8	845	c.558C>T	c.(556-558)ctC>ctT	p.L186L	MAP2K6_ENST00000589647.1_Silent_p.L130L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|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 apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CTAATGTACTCATCAATGCTC	0.448																																						uc002jij.2		NaN																	0				lung(2)|stomach(1)|ovary(1)|pancreas(1)	5						c.(556-558)CTC>CTT		mitogen-activated protein kinase kinase 6							333.0	297.0	309.0					17																	67519677		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67519677C>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.558C>T	17.37:g.67519677C>T							p.L186L	NM_002758	NP_002749	P52564	MP2K6_HUMAN			8	846	+	Breast(10;6.05e-10)		186			Protein kinase.			Silent	SNP	ENST00000590474.1	37	c.558C>T	CCDS11686.1																																																																																				0.448	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1		NM_002758		75	136	0	0	0	0.01441	0	75	136		
DNAI2	64446	broad.mit.edu	37	17	72297244	72297244	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:72297244C>T	ENST00000311014.6	+	8	991	c.924C>T	c.(922-924)atC>atT	p.I308I	DNAI2_ENST00000307504.5_Silent_p.I165I|DNAI2_ENST00000582036.1_Silent_p.I308I|DNAI2_ENST00000579490.1_Silent_p.I365I|DNAI2_ENST00000446837.2_Silent_p.I308I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	308					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTTGGACATCACCAAGAAGG	0.547									Kartagener syndrome																													uc002jkf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(922-924)ATC>ATT		dynein, axonemal, intermediate polypeptide 2							209.0	181.0	190.0					17																	72297244		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72297244C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.924C>T	17.37:g.72297244C>T						DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.I308I	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			8	1023	+			308					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.924C>T	CCDS11697.1																																																																																				0.547	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1		NM_023036		61	78	0	0	0	0.01441	0	61	78		
TMEM104	54868	broad.mit.edu	37	17	72832682	72832682	+	Silent	SNP	C	C	T	rs147463051	byFrequency	TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:72832682C>T	ENST00000335464.5	+	10	1509	c.1347C>T	c.(1345-1347)acC>acT	p.T449T	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.T449T	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	449						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCAGGGACACCCAGCTGGCCT	0.642													C|||	4	0.000798722	0.0	0.0014	5008	,	,		18118	0.0		0.003	False		,,,				2504	0.0					uc002jls.3		NaN																	0					0						c.(1345-1347)ACC>ACT		transmembrane protein 104		C		5,4401	9.9+/-24.2	0,5,2198	57.0	47.0	51.0		1347	-0.9	1.0	17	dbSNP_134	51	31,8569	21.0+/-64.5	0,31,4269	no	coding-synonymous	TMEM104	NM_017728.3		0,36,6467	TT,TC,CC		0.3605,0.1135,0.2768		449/497	72832682	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	54868					integral to membrane		g.chr17:72832682C>T	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1347C>T	17.37:g.72832682C>T						TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.T449T	p.T449T	NM_017728	NP_060198	Q8NE00	TM104_HUMAN			10	1509	+	all_lung(278;0.23)		449			Cytoplasmic (Potential).		Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	c.1347C>T	CCDS32723.1																																																																																				0.642	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1		NM_017728		4	48	0	0	0	0.009096	0	4	48		
ACOX1	51	broad.mit.edu	37	17	73945836	73945836	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:73945836C>T	ENST00000301608.4	-	10	1501	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ACOX1_ENST00000293217.5_Missense_Mutation_p.E481K|ACOX1_ENST00000537812.1_Missense_Mutation_p.E443K	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	481					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GTTAGGCTTTCGGGGCTGTTG	0.572																																						uc002jqf.2		NaN																	0				ovary(1)	1						c.(1441-1443)GAA>AAA		acyl-Coenzyme A oxidase 1 isoform b							118.0	95.0	103.0					17																	73945836		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73945836C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1441G>A	17.37:g.73945836C>T	ENSP00000301608:p.Glu481Lys					ACOX1_uc010wsq.1_Missense_Mutation_p.E443K|ACOX1_uc002jqe.2_Missense_Mutation_p.E481K|ACOX1_uc010wsr.1_Missense_Mutation_p.E413K	p.E481K	NM_007292	NP_009223	Q15067	ACOX1_HUMAN			10	1731	-			481					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.1441G>A	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	1.654	-0.513165	0.04200	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.39787	1.06;1.06;1.06	5.62	2.33	0.28932	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.760089	0.13248	N	0.402332	T	0.26048	0.0635	L	0.33668	1.02	0.09310	N	1	B;B;B;B	0.12013	0.0;0.0;0.005;0.004	B;B;B;B	0.12837	0.001;0.001;0.008;0.004	T	0.23691	-1.0181	10	0.13470	T	0.59	-10.6768	5.1665	0.15088	0.2256:0.3816:0.3256:0.0671	.	413;443;481;481	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	K	481;481;443;481;413	ENSP00000301608:E481K;ENSP00000293217:E481K;ENSP00000441257:E443K	ENSP00000293217:E481K	E	-	1	0	ACOX1	71457431	0.000000	0.05858	0.505000	0.27651	0.050000	0.14768	0.049000	0.14099	0.705000	0.31890	0.650000	0.86243	GAA		0.572	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1				7	55	0	0	0	0.00308	0	7	55		
GATA6	2627	broad.mit.edu	37	18	19762943	19762943	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:19762943C>G	ENST00000269216.3	+	6	1836	c.1559C>G	c.(1558-1560)tCt>tGt	p.S520C	GATA6_ENST00000581694.1_Missense_Mutation_p.S520C|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	520					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACTTCCACCTCTTCTAACTCA	0.393																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1		NaN																	0				central_nervous_system(3)	3						c.(1558-1560)TCT>TGT		GATA binding protein 6							132.0	118.0	123.0					18																	19762943		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19762943C>G	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1559C>G	18.37:g.19762943C>G	ENSP00000269216:p.Ser520Cys					GATA6_uc002ktu.1_Missense_Mutation_p.S520C	p.S520C	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		6	1824	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		520					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1559C>G	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393928	0.83011	.	.	ENSG00000141448	ENST00000269216	D	0.98234	-4.81	6.07	6.07	0.98685	.	0.060368	0.64402	D	0.000002	D	0.98673	0.9555	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	D	0.99804	1.1037	10	0.87932	D	0	-5.7714	18.8257	0.92117	0.0:1.0:0.0:0.0	.	520	Q92908	GATA6_HUMAN	C	520	ENSP00000269216:S520C	ENSP00000269216:S520C	S	+	2	0	GATA6	18016941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.834000	0.75339	2.885000	0.99019	0.650000	0.86243	TCT		0.393	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1		NM_005257		76	51	0	0	0	0.01441	0	76	51		
NPC1	4864	broad.mit.edu	37	18	21121061	21121061	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:21121061G>C	ENST00000269228.5	-	16	3039	c.2485C>G	c.(2485-2487)Ctg>Gtg	p.L829V	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.L511V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	829					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCTTTAGCAGAAGTGGAGAA	0.443																																						uc002kum.3		NaN																	0				ovary(2)	2						c.(2485-2487)CTG>GTG		Niemann-Pick disease, type C1 precursor							128.0	128.0	128.0					18																	21121061		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21121061G>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2485C>G	18.37:g.21121061G>C	ENSP00000269228:p.Leu829Val					NPC1_uc010xaz.1_Missense_Mutation_p.L562V|NPC1_uc010xba.1_Missense_Mutation_p.L674V	p.L829V	NM_000271	NP_000262	O15118	NPC1_HUMAN			16	2759	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		829					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2485C>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354418	0.24512	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.96334	-3.98;-3.9	5.76	4.88	0.63580	.	0.243256	0.36101	N	0.002788	D	0.94745	0.8304	M	0.70108	2.13	0.51482	D	0.999927	P;B	0.40000	0.698;0.318	B;B	0.37480	0.251;0.226	D	0.94253	0.7495	10	0.51188	T	0.08	-19.1917	12.5259	0.56085	0.1312:0.0:0.8688:0.0	.	840;829	Q59GR1;O15118	.;NPC1_HUMAN	V	829;511;674	ENSP00000269228:L829V;ENSP00000408606:L511V	ENSP00000269228:L829V	L	-	1	2	NPC1	19375059	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	2.151000	0.42263	2.724000	0.93272	0.462000	0.41574	CTG		0.443	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2		NM_000271		18	186	0	0	0	0.007413	0	18	186		
NPC1	4864	broad.mit.edu	37	18	21123451	21123451	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:21123451G>A	ENST00000269228.5	-	14	2767	c.2213C>T	c.(2212-2214)tCa>tTa	p.S738L	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S420L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	738	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAAAAGGATGACAGGAACAT	0.453																																						uc002kum.3		NaN																	0				ovary(2)	2	GRCh37	CM032636	NPC1	M		c.(2212-2214)TCA>TTA		Niemann-Pick disease, type C1 precursor							103.0	105.0	104.0					18																	21123451		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21123451G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2213C>T	18.37:g.21123451G>A	ENSP00000269228:p.Ser738Leu					NPC1_uc010xaz.1_Missense_Mutation_p.S471L|NPC1_uc010xba.1_Missense_Mutation_p.S583L	p.S738L	NM_000271	NP_000262	O15118	NPC1_HUMAN			14	2487	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		738			SSD.		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2213C>T	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906219	0.92107	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.92911	-3.13;-3.13	5.67	5.67	0.87782	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95401	0.8507	M	0.81942	2.565	0.80722	D	1	P;P	0.51791	0.948;0.9	P;P	0.55222	0.771;0.643	D	0.95474	0.8554	10	0.72032	D	0.01	-16.2996	19.7686	0.96352	0.0:0.0:1.0:0.0	.	749;738	Q59GR1;O15118	.;NPC1_HUMAN	L	738;420;583	ENSP00000269228:S738L;ENSP00000408606:S420L	ENSP00000269228:S738L	S	-	2	0	NPC1	19377449	1.000000	0.71417	0.966000	0.40874	0.999000	0.98932	7.453000	0.80700	2.689000	0.91719	0.650000	0.86243	TCA		0.453	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2		NM_000271		11	151	0	0	0	0.001855	0	11	151		
ASXL3	80816	broad.mit.edu	37	18	31323636	31323636	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:31323636C>T	ENST00000269197.5	+	12	3824	c.3824C>T	c.(3823-3825)tCt>tTt	p.S1275F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1275	Ser-rich.				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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTACAATTTCTGCTTGTAAT	0.393																																						uc010dmg.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(3823-3825)TCT>TTT		additional sex combs like 3							77.0	73.0	74.0					18																	31323636		1875	4099	5974	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323636C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3824C>T	18.37:g.31323636C>T	ENSP00000269197:p.Ser1275Phe					ASXL3_uc002kxq.2_Missense_Mutation_p.S982F	p.S1275F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3879	+			1275			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3824C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895963	0.52121	.	.	ENSG00000141431	ENST00000269197	T	0.50813	0.73	5.68	5.68	0.88126	.	.	.	.	.	T	0.36991	0.0987	L	0.27053	0.805	0.29626	N	0.845805	P	0.46277	0.875	B	0.39706	0.307	T	0.41270	-0.9518	9	0.66056	D	0.02	.	13.29	0.60267	0.2767:0.7233:0.0:0.0	.	1275	Q9C0F0	ASXL3_HUMAN	F	1275	ENSP00000269197:S1275F	ENSP00000269197:S1275F	S	+	2	0	ASXL3	29577634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.885000	0.48570	2.689000	0.91719	0.655000	0.94253	TCT		0.393	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2				5	77	0	0	0	0.001168	0	5	77		
MYO5B	4645	broad.mit.edu	37	18	47500910	47500910	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:47500910G>A	ENST00000285039.7	-	10	1431	c.1132C>T	c.(1132-1134)Cat>Tat	p.H378Y		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	378	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTTGCGATGACACAGCCAG	0.577																																						uc002leb.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1132-1134)CAT>TAT		myosin VB							157.0	159.0	158.0					18																	47500910		2172	4273	6445	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47500910G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1132C>T	18.37:g.47500910G>A	ENSP00000285039:p.His378Tyr					MYO5B_uc002lec.1_Missense_Mutation_p.H377Y	p.H378Y	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	10	1420	-			378			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1132C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795464	0.70452	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.86769	-2.17	5.52	5.52	0.82312	Myosin head, motor domain (2);	0.108904	0.64402	D	0.000006	D	0.86155	0.5865	L	0.53561	1.675	0.80722	D	1	B;B	0.19331	0.007;0.035	B;B	0.27608	0.081;0.021	T	0.81230	-0.1027	10	0.30078	T	0.28	.	19.0507	0.93043	0.0:0.0:1.0:0.0	.	377;378	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	Y	378;377	ENSP00000285039:H378Y	ENSP00000285039:H378Y	H	-	1	0	MYO5B	45754908	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.807000	0.99171	2.586000	0.87340	0.561000	0.74099	CAT		0.577	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2				49	37	0	0	0	0.01441	0	49	37		
C18orf54	162681	broad.mit.edu	37	18	51898905	51898905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:51898905C>T	ENST00000300091.5	+	6	1245	c.913C>T	c.(913-915)Caa>Taa	p.Q305*	C18orf54_ENST00000578138.1_Nonsense_Mutation_p.Q84*|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Nonsense_Mutation_p.Q466*	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	305						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTTAACCTTCAAGCAGTACA	0.338																																						uc002lfn.3		NaN																	0				ovary(1)|skin(1)	2						c.(913-915)CAA>TAA		hypothetical protein LOC162681 precursor							113.0	106.0	108.0					18																	51898905		2203	4300	6503	SO:0001587	stop_gained	162681					extracellular region		g.chr18:51898905C>T	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.913C>T	18.37:g.51898905C>T	ENSP00000300091:p.Gln305*					C18orf54_uc002lfo.3_Nonsense_Mutation_p.Q466*	p.Q305*	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	6	1029	+			305					I7HFJ6|Q6MZU3|Q6ZTL6	Nonsense_Mutation	SNP	ENST00000300091.5	37	c.913C>T	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	C	36	5.753901	0.96890	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	.	.	.	5.72	5.72	0.89469	.	0.134765	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.1355	18.7079	0.91645	0.0:1.0:0.0:0.0	.	.	.	.	X	305;466	.	ENSP00000300091:Q305X	Q	+	1	0	C18orf54	50152903	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.152000	0.64882	2.721000	0.93114	0.585000	0.79938	CAA		0.338	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1		NM_173529		25	64	0	0	0	0.00333	0	25	64		
CCDC102B	79839	broad.mit.edu	37	18	66564576	66564576	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:66564576G>A	ENST00000360242.5	+	6	1291	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	CCDC102B_ENST00000584156.1_Missense_Mutation_p.E392K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E392K|CCDC102B_ENST00000577772.1_3'UTR|RP11-861L17.3_ENST00000584226.1_5'Flank|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E392K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	392										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAAATGGAAGAGCTTTTGGA	0.393																																						uc002lkk.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(1174-1176)GAG>AAG		coiled-coil domain containing 102B							127.0	142.0	137.0					18																	66564576		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66564576G>A	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1174G>A	18.37:g.66564576G>A	ENSP00000353377:p.Glu392Lys					CCDC102B_uc002lki.2_Missense_Mutation_p.E392K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E392K	p.E392K	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			8	1397	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	392			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1174G>A	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118813	0.37436	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.27720	2.32;1.65;2.32	5.43	4.56	0.56223	.	0.298004	0.28606	N	0.014748	T	0.35158	0.0922	M	0.73430	2.235	0.30099	N	0.807586	P;P	0.40211	0.707;0.707	B;B	0.40825	0.341;0.341	T	0.33163	-0.9879	10	0.25106	T	0.35	-5.5952	11.766	0.51930	0.0853:0.0:0.9147:0.0	.	392;392	Q68D86-3;Q68D86	.;C102B_HUMAN	K	392	ENSP00000316237:E392K;ENSP00000351479:E392K;ENSP00000353377:E392K	ENSP00000316237:E392K	E	+	1	0	CCDC102B	64715556	1.000000	0.71417	0.901000	0.35422	0.713000	0.41058	5.616000	0.67709	1.305000	0.44909	0.561000	0.74099	GAG		0.393	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2		NM_024781		12	83	0	0	0	0.010729	0	12	83		
CNDP2	55748	broad.mit.edu	37	18	72186206	72186206	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:72186206G>C	ENST00000324262.4	+	11	1549	c.1233G>C	c.(1231-1233)ttG>ttC	p.L411F	CNDP2_ENST00000324301.8_Missense_Mutation_p.L327F|CNDP2_ENST00000579847.1_Missense_Mutation_p.L411F	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	411					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)		AGCCAGACTTGACCAGGGAAG	0.557																																						uc002llm.1		NaN																	0				ovary(2)|skin(1)	3						c.(1231-1233)TTG>TTC		CNDP dipeptidase 2							99.0	103.0	102.0					18																	72186206		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72186206G>C	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.1233G>C	18.37:g.72186206G>C	ENSP00000325548:p.Leu411Phe					CNDP2_uc002lln.1_Missense_Mutation_p.L327F|CNDP2_uc010dqs.2_Intron	p.L411F	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	11	1395	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	411					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.1233G>C	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139792	0.37728	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.52983	0.64;0.64	5.28	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.28776	0.89	0.80722	D	1	B;B	0.17465	0.022;0.02	B;B	0.21151	0.033;0.032	T	0.08330	-1.0727	10	0.08179	T	0.78	-29.5412	12.6742	0.56884	0.0866:0.0:0.9134:0.0	.	327;411	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	F	411;327	ENSP00000325548:L411F;ENSP00000325756:L327F	ENSP00000325548:L411F	L	+	3	2	CNDP2	70337186	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	4.706000	0.61845	1.101000	0.41535	0.650000	0.86243	TTG		0.557	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1		NM_018235		36	32	0	0	0	0.005524	0	36	32		
CSNK1G2	1455	broad.mit.edu	37	19	1969891	1969891	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:1969891G>A	ENST00000255641.8	+	2	615	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	40					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGGTCCTGATGGTGGGCC	0.706																																					Ovarian(91;880 1392 21236 36928 37598)	uc002lul.3		NaN																	0				stomach(1)	1						c.(118-120)CTG>CTA		casein kinase 1, gamma 2							25.0	28.0	27.0					19																	1969891		2199	4297	6496	SO:0001819	synonymous_variant	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1969891G>A	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.120G>A	19.37:g.1969891G>A						CSNK1G2_uc010dsu.2_5'UTR	p.L40L	NM_001319	NP_001310	P78368	KC1G2_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	643	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	40					B5BU42|O00704|Q8WUB1	Silent	SNP	ENST00000255641.8	37	c.120G>A	CCDS12077.1																																																																																				0.706	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1		NM_001319		8	4	0	0	0	0.008291	0	8	4		
NCLN	56926	broad.mit.edu	37	19	3186161	3186161	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:3186161G>C	ENST00000246117.4	+	1	564	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	NCLN_ENST00000590671.1_Intron	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	45					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGCGCACGAGTTCACCGT	0.721																																						uc002lxi.2		NaN																	0					0						c.(133-135)GAG>CAG		nicalin precursor							31.0	23.0	26.0					19																	3186161		2199	4296	6495	SO:0001583	missense	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3186161G>C	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.133G>C	19.37:g.3186161G>C	ENSP00000246117:p.Glu45Gln					NCLN_uc002lxh.1_RNA	p.E45Q	NM_020170	NP_064555	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	1	287	+		Hepatocellular(1079;0.137)	45			Lumenal (Potential).		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	c.133G>C	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970633	0.92919	.	.	ENSG00000125912	ENST00000246117	T	0.39406	1.08	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.81497	2.545	0.80722	D	1	P	0.52842	0.956	P	0.44518	0.452	T	0.63598	-0.6601	10	0.72032	D	0.01	-3.3518	15.1555	0.72739	0.0:0.0:1.0:0.0	.	45	Q969V3	NCLN_HUMAN	Q	45	ENSP00000246117:E45Q	ENSP00000246117:E45Q	E	+	1	0	NCLN	3137161	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.752000	0.74898	1.903000	0.55091	0.462000	0.41574	GAG		0.721	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1		NM_020170		7	8	0	0	0	0.00308	0	7	8		
ZNF799	90576	broad.mit.edu	37	19	12502718	12502718	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:12502718C>G	ENST00000430385.3	-	4	694	c.494G>C	c.(493-495)gGa>gCa	p.G165A	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.G133A	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	165					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGGTTTCTTTCCAGTGTGAAG	0.428																																						uc010dyt.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(493-495)GGA>GCA		zinc finger protein 799							149.0	144.0	146.0					19																	12502718		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502718C>G	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.494G>C	19.37:g.12502718C>G	ENSP00000411084:p.Gly165Ala					ZNF799_uc002mts.3_Intron	p.G165A	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN			4	644	-			165						Missense_Mutation	SNP	ENST00000430385.3	37	c.494G>C	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485691	0.44147	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.26373	1.74;1.74	1.2	-0.267	0.12938	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42832	0.1220	M	0.83384	2.64	0.27018	N	0.964522	D	0.59357	0.985	P	0.58077	0.832	T	0.29640	-1.0005	9	0.72032	D	0.01	.	6.1032	0.20059	0.3777:0.6223:0.0:0.0	.	165	Q96GE5	ZN799_HUMAN	A	133;165	ENSP00000415278:G133A;ENSP00000411084:G165A	ENSP00000415278:G133A	G	-	2	0	ZNF799	12363718	0.000000	0.05858	0.080000	0.20451	0.204000	0.24138	0.317000	0.19487	-0.063000	0.13065	0.430000	0.28490	GGA		0.428	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2		NM_001080821		6	100	0	0	0	0.001168	0	6	100		
GIPC1	10755	broad.mit.edu	37	19	14591576	14591576	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:14591576G>A	ENST00000393033.4	-	5	572	c.303C>T	c.(301-303)acC>acT	p.T101T	GIPC1_ENST00000345425.2_Silent_p.T101T|GIPC1_ENST00000393028.1_Silent_p.T4T|GIPC1_ENST00000591349.1_Silent_p.T4T|GIPC1_ENST00000393029.3_Silent_p.T4T|GIPC1_ENST00000586027.1_Silent_p.T101T	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	101					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGGTGTTCAGGGTGCAGAACA	0.612											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	uc002myt.2		NaN																	0					0						c.(301-303)ACC>ACT		regulator of G-protein signalling 19 interacting							103.0	85.0	91.0					19																	14591576		2203	4300	6503	SO:0001819	synonymous_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591576G>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.303C>T	19.37:g.14591576G>A			OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_uc002myu.2_Silent_p.T101T|GIPC1_uc002myv.2_Silent_p.T4T|GIPC1_uc002myw.2_Silent_p.T4T|GIPC1_uc002myx.2_Silent_p.T101T|GIPC1_uc002myy.2_Silent_p.T4T	p.T101T	NM_005716	NP_005707	O14908	GIPC1_HUMAN			5	573	-			101					A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	c.303C>T	CCDS12310.1																																																																																				0.612	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2				6	39	0	0	0	0.001168	0	6	39		
ARMC6	93436	broad.mit.edu	37	19	19168416	19168416	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:19168416G>C	ENST00000535612.1	+	9	1917	c.1485G>C	c.(1483-1485)caG>caC	p.Q495H	ARMC6_ENST00000269932.6_Missense_Mutation_p.Q470H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q470H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q495H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q402H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	495					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGACAGGCCAGAGGGGCAACC	0.652																																						uc002nld.2		NaN																	0					0						c.(1483-1485)CAG>CAC		armadillo repeat containing 6							37.0	37.0	37.0					19																	19168416		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19168416G>C	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1485G>C	19.37:g.19168416G>C	ENSP00000444156:p.Gln495His					ARMC6_uc002nlc.2_Missense_Mutation_p.Q470H|ARMC6_uc010xql.1_Missense_Mutation_p.Q402H|ARMC6_uc002nle.2_Missense_Mutation_p.Q470H|ARMC6_uc010xqm.1_Missense_Mutation_p.Q495H	p.Q495H	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		9	1833	+			495					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.1485G>C	CCDS56089.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.89|12.89|12.89	2.073366|2.073366|2.073366	0.36566|0.36566|0.36566	.|.|.	.|.|.	ENSG00000105676|ENSG00000105676|ENSG00000105676	ENST00000535478;ENST00000540634|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000392336|ENST00000379532	.|T;T;T;T;T|.	.|0.30714|.	.|1.53;1.52;1.53;1.53;1.52|.	4.09|4.09|4.09	0.79|0.79|0.79	0.18613|0.18613|0.18613	.|.|.	.|0.272984|.	.|0.35739|.	.|N|.	.|0.003007|.	T|T|T	0.46405|0.46405|0.46405	0.1391|0.1391|0.1391	L|L|L	0.38175|0.38175|0.38175	1.15|1.15|1.15	0.34811|0.34811|0.34811	D|D|D	0.737692|0.737692|0.737692	.|P|.	.|0.46706|.	.|0.883|.	.|B|.	.|0.41036|.	.|0.346|.	T|T|T	0.55798|0.55798|0.55798	-0.8084|-0.8084|-0.8084	5|10|6	.|0.56958|0.49607	.|D|T	.|0.05|0.09	-17.7455|-17.7455|-17.7455	7.4586|7.4586|7.4586	0.27280|0.27280|0.27280	0.3769:0.0:0.6231:0.0|0.3769:0.0:0.6231:0.0|0.3769:0.0:0.6231:0.0	.|.|.	.|495|.	.|Q6NXE6|.	.|ARMC6_HUMAN|.	Q|H|T	139;75|470;495;470;402;495|405	.|ENSP00000376147:Q470H;ENSP00000444156:Q495H;ENSP00000269932:Q470H;ENSP00000444341:Q402H;ENSP00000376148:Q495H|.	.|ENSP00000269932:Q470H|ENSP00000368847:R405T	E|Q|R	+|+|+	1|3|2	0|2|0	ARMC6|ARMC6|ARMC6	19029416|19029416|19029416	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.321000|0.321000|0.321000	0.28281|0.28281|0.28281	1.202000|1.202000|1.202000	0.32271|0.32271|0.32271	0.492000|0.492000|0.492000	0.27815|0.27815|0.27815	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAG|CAG|AGA		0.652	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1		NM_033415		5	29	0	0	0	0.001168	0	5	29		
GMIP	51291	broad.mit.edu	37	19	19745863	19745863	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:19745863C>T	ENST00000203556.4	-	16	1857	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Missense_Mutation_p.E548K|GMIP_ENST00000445806.2_Missense_Mutation_p.E545K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	574	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGTTCTATCTCAGCCGTGCAC	0.597																																						uc002nnd.2		NaN																	0				ovary(1)	1						c.(1720-1722)GAG>AAG		GEM interacting protein							86.0	80.0	82.0					19																	19745863		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19745863C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1720G>A	19.37:g.19745863C>T	ENSP00000203556:p.Glu574Lys					GMIP_uc010xrb.1_Missense_Mutation_p.E548K|GMIP_uc010xrc.1_Missense_Mutation_p.E545K	p.E574K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			16	1837	-			574			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1720G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010430	0.93346	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.43294	0.95;0.95	5.26	5.26	0.73747	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.44902	D	0.000412	T	0.75693	0.3884	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.91635	0.999;0.982;0.999	D	0.83613	0.0135	10	0.62326	D	0.03	-24.518	16.3666	0.83331	0.0:1.0:0.0:0.0	.	545;548;574	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	K	574;545	ENSP00000203556:E574K;ENSP00000397075:E545K	ENSP00000203556:E574K	E	-	1	0	GMIP	19606863	1.000000	0.71417	0.949000	0.38748	0.983000	0.72400	7.426000	0.80270	2.466000	0.83321	0.561000	0.74099	GAG		0.597	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1		NM_016573		17	92	0	0	0	0.00499	0	17	92		
ZNF208	7757	broad.mit.edu	37	19	22156691	22156691	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:22156691G>C	ENST00000397126.4	-	4	1293	c.1145C>G	c.(1144-1146)tCa>tGa	p.S382*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAGGGTTGAGGGCCACTT	0.368																																						uc002nqp.2		NaN																	0				ovary(5)|skin(2)	7						c.(1144-1146)TCA>TGA		zinc finger protein 208							36.0	39.0	38.0					19																	22156691		2046	4213	6259	SO:0001587	stop_gained	7757							g.chr19:22156691G>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1145C>G	19.37:g.22156691G>C	ENSP00000380315:p.Ser382*					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.S382*	NM_007153	NP_009084					4	1294	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.1145C>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075314	0.76415	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.65	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	11.9818	0.53123	0.0:0.0:1.0:0.0	.	.	.	.	X	382	.	ENSP00000380315:S382X	S	-	2	0	ZNF208	21948531	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.542000	0.23222	1.034000	0.39945	0.306000	0.20318	TCA		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		12	60	0	0	0	0.003163	0	12	60		
SLC7A9	11136	broad.mit.edu	37	19	33334854	33334854	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:33334854G>A	ENST00000023064.4	-	10	1172	c.981C>T	c.(979-981)ctC>ctT	p.L327L	SLC7A9_ENST00000587772.1_Silent_p.L327L|SLC7A9_ENST00000590341.1_Silent_p.L327L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	327					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCACGTAAATGAGTCTGGAAA	0.577																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3		NaN																	0				skin(1)	1						c.(979-981)CTC>CTT		solute carrier family 7, member 9	L-Cystine(DB00138)						49.0	45.0	47.0					19																	33334854		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33334854G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.981C>T	19.37:g.33334854G>A						SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.L327L|SLC7A9_uc002ntw.3_Silent_p.L118L	p.L327L	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			10	1098	-	Esophageal squamous(110;0.137)		327			Cytoplasmic (Potential).		B2R9A6	Silent	SNP	ENST00000023064.4	37	c.981C>T	CCDS12425.1																																																																																				0.577	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1				5	37	0	0	0	0.000602	0	5	37		
ZNF585B	92285	broad.mit.edu	37	19	37676275	37676275	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:37676275C>T	ENST00000532828.2	-	5	2415	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.E310K|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E667K|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	722					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACACTCAGCACACACG	0.463																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NaN																	0				ovary(1)	1						c.(2164-2166)GAG>AAG		zinc finger protein 585B							167.0	139.0	148.0					19																	37676275		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676275C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2164G>A	19.37:g.37676275C>T	ENSP00000433773:p.Glu722Lys					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.E536K	p.E722K	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2418	-			722			C2H2-type 20.		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.2164G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970376	0.34754	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.07327	3.2;3.2;3.2	2.65	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38005	N	0.001847	T	0.06508	0.0167	L	0.38649	1.16	0.21105	N	0.999783	B;B	0.30634	0.288;0.186	B;B	0.26770	0.048;0.073	T	0.28170	-1.0052	10	0.62326	D	0.03	.	8.3656	0.32385	0.0:0.8691:0.0:0.1309	.	667;722	E9PQH3;Q52M93	.;Z585B_HUMAN	K	667;722;310	ENSP00000436774:E667K;ENSP00000433773:E722K;ENSP00000442139:E310K	ENSP00000442139:E310K	E	-	1	0	ZNF585B	42368115	0.000000	0.05858	0.781000	0.31783	0.458000	0.32498	0.066000	0.14489	0.411000	0.25702	0.305000	0.20034	GAG		0.463	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2		NM_152279		18	121	0	0	0	0.007413	0	18	121		
HIPK4	147746	broad.mit.edu	37	19	40886303	40886303	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:40886303G>A	ENST00000291823.2	-	3	1879	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	532					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGCTCAGCAGAGGCCCCGAG	0.607																																						uc002onp.2		NaN																	0				ovary(1)|stomach(1)	2						c.(1594-1596)TCT>TTT		homeodomain interacting protein kinase 4							50.0	47.0	48.0					19																	40886303		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886303G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1595C>T	19.37:g.40886303G>A	ENSP00000291823:p.Ser532Phe						p.S532F	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1880	-			532					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1595C>T	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564889	0.27915	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.69040	-0.37	4.74	3.66	0.41972	.	0.475237	0.18065	N	0.152804	T	0.59459	0.2195	L	0.27053	0.805	0.27852	N	0.940693	D	0.56968	0.978	P	0.49012	0.598	T	0.55823	-0.8080	10	0.87932	D	0	.	10.3182	0.43749	0.0:0.0:0.8027:0.1973	.	532	Q8NE63	HIPK4_HUMAN	F	532;497	ENSP00000291823:S532F	ENSP00000291823:S532F	S	-	2	0	HIPK4	45578143	1.000000	0.71417	0.849000	0.33467	0.066000	0.16364	3.558000	0.53749	1.070000	0.40811	0.313000	0.20887	TCT		0.607	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1		NM_144685		7	68	0	0	0	0.001984	0	7	68		
LIPE	3991	broad.mit.edu	37	19	42906092	42906092	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:42906092C>G	ENST00000244289.4	-	10	3379	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	1035					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCGCGTCTCGCGGCACAGC	0.756																																						uc002otr.2		NaN																	0				ovary(1)|breast(1)	2						c.(3103-3105)GAG>CAG		hormone-sensitive lipase							4.0	4.0	4.0					19																	42906092		1864	3687	5551	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42906092C>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.3103G>C	19.37:g.42906092C>G	ENSP00000244289:p.Glu1035Gln					uc010eif.1_Intron	p.E1035Q	NM_005357	NP_005348	Q05469	LIPS_HUMAN			10	3380	-		Prostate(69;0.00682)	1035					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.3103G>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056499	0.76074	.	.	ENSG00000079435	ENST00000244289	T	0.09817	2.94	4.35	4.35	0.52113	.	0.135091	0.48286	D	0.000196	T	0.22551	0.0544	L	0.29908	0.895	0.50039	D	0.999841	D	0.89917	1.0	D	0.87578	0.998	T	0.02232	-1.1191	10	0.56958	D	0.05	-14.9674	16.4994	0.84253	0.0:1.0:0.0:0.0	.	1035	Q05469	LIPS_HUMAN	Q	1035	ENSP00000244289:E1035Q	ENSP00000244289:E1035Q	E	-	1	0	LIPE	47597932	1.000000	0.71417	0.981000	0.43875	0.119000	0.20118	6.046000	0.71029	2.348000	0.79779	0.462000	0.41574	GAG		0.756	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		NM_005357		2	3	0	0	0	0.004672	0	2	3		
PSG1	5669	broad.mit.edu	37	19	43382132	43382132	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:43382132G>A	ENST00000436291.2	-	2	479	c.363C>T	c.(361-363)acC>acT	p.T121T	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.T121T|PSG1_ENST00000595356.1_Silent_p.T121T|PSG1_ENST00000595124.1_Silent_p.T121T|PSG1_ENST00000403380.3_Silent_p.T121T|PSG1_ENST00000244296.2_Silent_p.T121T	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	121	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGATGTGTAAGGTGTAGGATC	0.478																																						uc002ovb.2		NaN																	0				ovary(2)	2						c.(361-363)ACC>ACT		pregnancy specific beta-1-glycoprotein 1							327.0	297.0	308.0					19																	43382132		2201	4298	6499	SO:0001819	synonymous_variant	5669				female pregnancy	extracellular region		g.chr19:43382132G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.363C>T	19.37:g.43382132G>A						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.T121T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.T121T|PSG1_uc010eio.1_Silent_p.T121T|PSG1_uc002oux.1_Silent_p.T50T|PSG1_uc002ouy.1_Silent_p.T121T|PSG1_uc002ouz.1_Silent_p.T121T|PSG1_uc002ova.1_Silent_p.T121T|PSG1_uc002ovc.2_Silent_p.T121T|PSG1_uc002ovd.1_Silent_p.T121T	p.T121T	NM_006905	NP_008836	P11464	PSG1_HUMAN			2	501	-		Prostate(69;0.00682)	121			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.363C>T	CCDS54275.1																																																																																				0.478	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1				31	280	0	0	0	0.01441	0	31	280		
PSG7	5676	broad.mit.edu	37	19	43430668	43430668	+	RNA	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:43430668C>T	ENST00000406070.2	-	0	1006				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GGTCCTGTTTCATTTCTCGTG	0.498																																						uc002ovl.3		NaN																	0					0						c.(910-912)GAA>AAA		pregnancy specific beta-1-glycoprotein 7							163.0	152.0	156.0					19																	43430668		2200	4280	6480			5676				female pregnancy	extracellular region		g.chr19:43430668C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430668C>T						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.E182K	p.E304K	NM_002783	NP_002774	Q13046	PSG7_HUMAN			5	1012	-		Prostate(69;0.00682)	304			Ig-like C2-type 2.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.910G>A																																																																																					0.498	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2		NM_001206650		49	276	0	0	0	0.01441	0	49	276		
PSG7	5676	broad.mit.edu	37	19	43439684	43439684	+	RNA	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:43439684A>G	ENST00000406070.2	-	0	398				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ATTGGAATATACTGTTTCTCA	0.418																																						uc002ovl.3		NaN																	0					0						c.(301-303)GTA>GCA		pregnancy specific beta-1-glycoprotein 7							339.0	327.0	331.0					19																	43439684		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43439684A>G			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439684A>G						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	p.V101A	NM_002783	NP_002774	Q13046	PSG7_HUMAN			3	404	-		Prostate(69;0.00682)	101			Ig-like V-type.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.302T>C																																																																																					0.418	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2		NM_001206650		30	585	0	0	0	0.003755	0	30	585		
ZNF230	7773	broad.mit.edu	37	19	44514752	44514752	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:44514752G>C	ENST00000429154.2	+	5	789	c.561G>C	c.(559-561)caG>caC	p.Q187H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GTATTCACCAGAGAGTTCACT	0.458																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NaN																	0					0						c.(559-561)CAG>CAC		zinc finger protein 230							123.0	121.0	121.0					19																	44514752		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514752G>C	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.561G>C	19.37:g.44514752G>C	ENSP00000409318:p.Gln187His						p.Q187H	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	812	+		Prostate(69;0.0352)	187			C2H2-type 1.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.561G>C	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654400	0.47467	.	.	ENSG00000159882	ENST00000429154	T	0.30182	1.54	2.67	0.127	0.14727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42314	0.1197	M	0.75777	2.31	0.53688	D	0.999973	D	0.54964	0.969	P	0.61477	0.889	T	0.38672	-0.9650	9	0.54805	T	0.06	.	1.564	0.02601	0.1197:0.1731:0.3563:0.3509	.	187	Q9UIE0	ZN230_HUMAN	H	187	ENSP00000409318:Q187H	ENSP00000409318:Q187H	Q	+	3	2	ZNF230	49206592	0.000000	0.05858	0.002000	0.10522	0.346000	0.29079	0.075000	0.14686	-0.018000	0.14079	0.407000	0.27541	CAG		0.458	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1				53	125	0	0	0	0.01441	0	53	125		
ZC3H4	23211	broad.mit.edu	37	19	47569810	47569810	+	Missense_Mutation	SNP	C	C	T	rs568440265		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:47569810C>T	ENST00000253048.5	-	15	3752	c.3715G>A	c.(3715-3717)Gag>Aag	p.E1239K	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1239							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGGCACCCTCGGGGGGTGGG	0.701													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8209	0.0		0.0	False		,,,				2504	0.0					uc002pga.3		NaN																	0				skin(4)|ovary(2)	6						c.(3715-3717)GAG>AAG		zinc finger CCCH-type containing 4							7.0	9.0	9.0					19																	47569810		1722	3812	5534	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47569810C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3715G>A	19.37:g.47569810C>T	ENSP00000253048:p.Glu1239Lys					ZC3H4_uc002pgb.1_RNA	p.E1239K	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3753	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	1239					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.3715G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472423	0.26423	.	.	ENSG00000130749	ENST00000253048	T	0.17054	2.3	5.74	5.74	0.90152	.	1.099410	0.06877	N	0.801760	T	0.21347	0.0514	L	0.51422	1.61	0.35457	D	0.796155	D	0.53151	0.958	B	0.38296	0.27	T	0.47058	-0.9146	10	0.27082	T	0.32	.	18.7051	0.91635	0.0:1.0:0.0:0.0	.	1239	Q9UPT8	ZC3H4_HUMAN	K	1239	ENSP00000253048:E1239K	ENSP00000253048:E1239K	E	-	1	0	ZC3H4	52261650	0.926000	0.31397	0.868000	0.34077	0.135000	0.20990	3.132000	0.50523	2.717000	0.92951	0.563000	0.77884	GAG		0.701	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1				4	7	0	0	0	0.009096	0	4	7		
RRAS	6237	broad.mit.edu	37	19	50138855	50138855	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:50138855C>T	ENST00000246792.3	-	6	737	c.635G>A	c.(634-636)gGc>gAc	p.G212D		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	212					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GCAGGGGCAGCCCCCGCCCTT	0.617																																						uc002pop.1		NaN																	0				ovary(1)	1						c.(634-636)GGC>GAC		related RAS viral (r-ras) oncogene homolog							67.0	73.0	71.0					19																	50138855		2203	4300	6503	SO:0001583	missense	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50138855C>T		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.635G>A	19.37:g.50138855C>T	ENSP00000246792:p.Gly212Asp						p.G212D	NM_006270	NP_006261	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	6	680	-			212					Q6FH12	Missense_Mutation	SNP	ENST00000246792.3	37	c.635G>A	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904211	0.72754	.	.	ENSG00000126458	ENST00000246792	T	0.70986	-0.53	5.08	5.08	0.68730	.	0.080549	0.46758	D	0.000272	T	0.64405	0.2595	L	0.45470	1.425	0.47476	D	0.99943	B	0.29301	0.241	B	0.30401	0.115	T	0.59742	-0.7397	10	0.19590	T	0.45	.	15.9938	0.80225	0.0:1.0:0.0:0.0	.	212	P10301	RRAS_HUMAN	D	212	ENSP00000246792:G212D	ENSP00000246792:G212D	G	-	2	0	RRAS	54830667	0.988000	0.35896	0.920000	0.36463	0.954000	0.61252	5.403000	0.66338	2.644000	0.89710	0.561000	0.74099	GGC		0.617	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1		NM_006270		50	72	0	0	0	0.01441	0	50	72		
NAPSA	9476	broad.mit.edu	37	19	50864260	50864260	+	Silent	SNP	C	C	T	rs200603901		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:50864260C>T	ENST00000253719.2	-	5	814	c.606G>A	c.(604-606)ccG>ccA	p.P202P	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	202					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTACATCCATCGGGGGCCGAA	0.532																																						uc002prx.2		NaN																	0					0						c.(604-606)CCG>CCA		napsin A preproprotein							75.0	71.0	73.0					19																	50864260		2203	4300	6503	SO:0001819	synonymous_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864260C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.606G>A	19.37:g.50864260C>T						NR1H2_uc002prv.3_Intron	p.P202P	NM_004851	NP_004842	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	659	-		all_neural(266;0.057)	202					Q8WWD9	Silent	SNP	ENST00000253719.2	37	c.606G>A	CCDS12794.1																																																																																				0.532	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1		NM_004851		38	77	0	0	0	0.00623	0	38	77		
SHANK1	50944	broad.mit.edu	37	19	51219704	51219704	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:51219704A>G	ENST00000293441.1	-	2	305	c.287T>C	c.(286-288)aTc>aCc	p.I96T	SHANK1_ENST00000391814.1_Missense_Mutation_p.I96T|SHANK1_ENST00000359082.3_Missense_Mutation_p.I96T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	96					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCCGTCCAGATGGTGGCATC	0.637																																						uc002psx.1		NaN																	0				large_intestine(2)	2						c.(286-288)ATC>ACC		SH3 and multiple ankyrin repeat domains 1							55.0	57.0	57.0					19																	51219704		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219704A>G	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.287T>C	19.37:g.51219704A>G	ENSP00000293441:p.Ile96Thr						p.I96T	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	306	-		all_neural(266;0.057)	96					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.287T>C	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	a	8.752	0.921465	0.17982	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.18657	2.2;2.2;2.2	2.81	2.81	0.32909	.	0.113396	0.35970	U	0.002877	T	0.15176	0.0366	L	0.42245	1.32	0.47621	D	0.999472	P	0.47409	0.895	B	0.35607	0.206	T	0.05616	-1.0874	10	0.72032	D	0.01	.	10.2223	0.43205	1.0:0.0:0.0:0.0	.	96	Q9Y566	SHAN1_HUMAN	T	96	ENSP00000293441:I96T;ENSP00000351984:I96T;ENSP00000375690:I96T	ENSP00000293441:I96T	I	-	2	0	SHANK1	55911516	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.160000	0.77495	1.295000	0.44724	0.370000	0.22315	ATC		0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148		20	45	0	0	0	0.010504	0	20	45		
LIM2	3982	broad.mit.edu	37	19	51890572	51890572	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:51890572C>T	ENST00000596399.1	-	2	173	c.126G>A	c.(124-126)ctG>ctA	p.L42L	LIM2_ENST00000221973.3_Silent_p.L42L	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	42					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		AGTACCGCCACAGGCCCTGGT	0.667																																						uc002pwm.2		NaN																	0					0						c.(124-126)CTG>CTA		lens intrinsic membrane protein 2, 19kDa isoform							62.0	63.0	63.0					19																	51890572		2203	4300	6503	SO:0001819	synonymous_variant	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51890572C>T		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.126G>A	19.37:g.51890572C>T						LIM2_uc002pwl.2_Silent_p.L42L	p.L42L	NM_001161748	NP_001155220	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	2	170	-		all_neural(266;0.0529)	42			Extracellular (Potential).		Q6B083|Q9BXD0|Q9HAR5	Silent	SNP	ENST00000596399.1	37	c.126G>A	CCDS59415.1																																																																																				0.667	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1		NM_030657		23	85	0	0	0	0.00333	0	23	85		
DPRX	503834	broad.mit.edu	37	19	54139969	54139969	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:54139969G>C	ENST00000376650.1	+	3	354	c.303G>C	c.(301-303)ctG>ctC	p.L101L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GTGTCGGCCTGAGAAATGCAG	0.527																																						uc002qcf.1		NaN																	0					0						c.(301-303)CTG>CTC		divergent-paired related homeobox							122.0	100.0	108.0					19																	54139969		2203	4300	6503	SO:0001819	synonymous_variant	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54139969G>C		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.303G>C	19.37:g.54139969G>C							p.L101L	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	354	+	Ovarian(34;0.19)		101						Silent	SNP	ENST00000376650.1	37	c.303G>C	CCDS33103.1																																																																																				0.527	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1		NM_001012728		43	85	0	0	0	0.006999	0	43	85		
DPRX	503834	broad.mit.edu	37	19	54139992	54139992	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:54139992G>C	ENST00000376650.1	+	3	377	c.326G>C	c.(325-327)aGa>aCa	p.R109T		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R109I(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ACACTACCCAGATTGCCCAAC	0.542																																						uc002qcf.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(325-327)AGA>ACA		divergent-paired related homeobox							131.0	104.0	113.0					19																	54139992		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54139992G>C		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.326G>C	19.37:g.54139992G>C	ENSP00000365838:p.Arg109Thr						p.R109T	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	377	+	Ovarian(34;0.19)		109						Missense_Mutation	SNP	ENST00000376650.1	37	c.326G>C	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	g	2.555	-0.303156	0.05495	.	.	ENSG00000204595	ENST00000376650	D	0.94232	-3.38	1.45	1.45	0.22620	.	.	.	.	.	D	0.84252	0.5431	N	0.19112	0.55	0.09310	N	1	D	0.63046	0.992	B	0.42522	0.39	T	0.75912	-0.3150	9	0.13108	T	0.6	.	6.3315	0.21272	0.0:0.0:1.0:0.0	.	109	A6NFQ7	DPRX_HUMAN	T	109	ENSP00000365838:R109T	ENSP00000365838:R109T	R	+	2	0	DPRX	58831804	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.446000	0.21694	1.109000	0.41680	0.561000	0.74099	AGA		0.542	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1		NM_001012728		44	81	0	0	0	0.00874	0	44	81		
DPRX	503834	broad.mit.edu	37	19	54140199	54140199	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:54140199C>G	ENST00000376650.1	+	3	584	c.533C>G	c.(532-534)tCt>tGt	p.S178C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AGCTTCCATTCTGGCTCTCCT	0.438																																						uc002qcf.1		NaN																	0					0						c.(532-534)TCT>TGT		divergent-paired related homeobox							114.0	111.0	112.0					19																	54140199		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54140199C>G		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.533C>G	19.37:g.54140199C>G	ENSP00000365838:p.Ser178Cys						p.S178C	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	584	+	Ovarian(34;0.19)		178						Missense_Mutation	SNP	ENST00000376650.1	37	c.533C>G	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	c	4.597	0.110926	0.08831	.	.	ENSG00000204595	ENST00000376650	D	0.95980	-3.87	1.45	0.393	0.16294	.	.	.	.	.	D	0.87928	0.6301	N	0.19112	0.55	0.09310	N	1	B	0.29862	0.259	B	0.22601	0.04	T	0.80162	-0.1497	9	0.87932	D	0	.	3.6768	0.08295	0.0:0.75:0.0:0.25	.	178	A6NFQ7	DPRX_HUMAN	C	178	ENSP00000365838:S178C	ENSP00000365838:S178C	S	+	2	0	DPRX	58832011	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.245000	0.32790	0.178000	0.19917	0.561000	0.74099	TCT		0.438	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1		NM_001012728		9	176	0	0	0	0.008291	0	9	176		
VSTM1	284415	broad.mit.edu	37	19	54545425	54545425	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:54545425C>G	ENST00000338372.2	-	6	688	c.513G>C	c.(511-513)aaG>aaC	p.K171N	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.K83N|VSTM1_ENST00000376626.1_Missense_Mutation_p.K140N	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	171					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GCATCTACCTCTTGGTGGATT	0.507																																						uc002qcw.3		NaN																	0					0						c.(511-513)AAG>AAC		V-set and transmembrane domain containing 1							150.0	154.0	153.0					19																	54545425		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54545425C>G	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.513G>C	19.37:g.54545425C>G	ENSP00000343366:p.Lys171Asn					VSTM1_uc010erb.2_Intron|VSTM1_uc002qcx.3_Missense_Mutation_p.K140N	p.K171N	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	6	689	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		171					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.513G>C	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169965	0.38315	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.47177	2.53;6.75;6.45;0.85	3.24	1.1	0.20463	.	0.497894	0.14973	U	0.287670	T	0.36054	0.0953	L	0.29908	0.895	0.29247	N	0.872238	D;D	0.54964	0.969;0.969	P;P	0.47162	0.54;0.54	T	0.23655	-1.0182	10	0.40728	T	0.16	-4.4272	6.2819	0.21011	0.0:0.7591:0.0:0.2409	.	140;171	D2DJS4;Q6UX27	.;VSTM1_HUMAN	N	61;171;140;83	ENSP00000409412:K61N;ENSP00000343366:K171N;ENSP00000365813:K140N;ENSP00000444153:K83N	ENSP00000343366:K171N	K	-	3	2	VSTM1	59237237	0.206000	0.23470	0.275000	0.24674	0.008000	0.06430	0.083000	0.14871	0.381000	0.24851	-0.415000	0.06103	AAG		0.507	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3		NM_198481		31	146	0	0	0	0.012213	0	31	146		
ZNF587	84914	broad.mit.edu	37	19	58370965	58370965	+	Silent	SNP	C	C	T	rs146642070		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:58370965C>T	ENST00000339656.5	+	3	1367	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Silent_p.L394L|ZNF587_ENST00000419854.1_Silent_p.L352L|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AGGGCAACCTCGTTCACCATC	0.468																																					Pancreas(59;641 1233 1885 20055 50741)	uc002qql.2		NaN																	0					0						c.(1183-1185)CTC>CTT		zinc finger protein 587		C	,	1,4405		0,1,2202	182.0	172.0	175.0		1182,1185	-0.4	0.0	19	dbSNP_134	175	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF587	NM_001204817.1,NM_032828.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	394/575,395/576	58370965	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370965C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1185C>T	19.37:g.58370965C>T						ZNF587_uc002qqb.2_Silent_p.L352L|ZNF587_uc010yhh.1_Silent_p.L352L|ZNF587_uc002qqi.1_Silent_p.L352L|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.L394L	p.L395L	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1323	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	395			C2H2-type 7.		A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	c.1185C>T	CCDS12964.1																																																																																				0.468	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2		NM_032828		103	129	0	0	0	0.01441	0	103	129		
CHMP2A	27243	broad.mit.edu	37	19	59063424	59063424	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:59063424C>T	ENST00000600118.1	-	3	902	c.477G>A	c.(475-477)gaG>gaA	p.E159E	CHMP2A_ENST00000601220.1_Silent_p.E159E|CHMP2A_ENST00000312547.2_Silent_p.E159E			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	159	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCCATACCTCTCCTCTTCAT	0.517																																						uc002qti.2		NaN																	0					0						c.(475-477)GAG>GAA		chromatin modifying protein 2A							357.0	275.0	303.0					19																	59063424		2203	4300	6503	SO:0001819	synonymous_variant	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063424C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.477G>A	19.37:g.59063424C>T						CHMP2A_uc002qtj.2_Silent_p.E159E|CHMP2A_uc002qtk.2_Silent_p.E159E	p.E159E	NM_198426	NP_940818	O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	903	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	159			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Silent	SNP	ENST00000600118.1	37	c.477G>A	CCDS12986.1																																																																																				0.517	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1		NM_014453		11	193	0	0	0	0.010729	0	11	193		
CHMP2A	27243	broad.mit.edu	37	19	59063429	59063429	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:59063429C>T	ENST00000600118.1	-	3	897	c.472G>A	c.(472-474)Gag>Aag	p.E158K	CHMP2A_ENST00000601220.1_Missense_Mutation_p.E158K|CHMP2A_ENST00000312547.2_Missense_Mutation_p.E158K			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	158	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TACCTCTCCTCTTCATCTTCC	0.512																																						uc002qti.2		NaN																	0					0						c.(472-474)GAG>AAG		chromatin modifying protein 2A							366.0	282.0	311.0					19																	59063429		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063429C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.472G>A	19.37:g.59063429C>T	ENSP00000469240:p.Glu158Lys					CHMP2A_uc002qtj.2_Missense_Mutation_p.E158K|CHMP2A_uc002qtk.2_Missense_Mutation_p.E158K	p.E158K	NM_198426	NP_940818	O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	898	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	158			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.472G>A	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010029	0.93346	.	.	ENSG00000130724	ENST00000312547	T	0.76578	-1.03	4.74	4.74	0.60224	.	0.104881	0.64402	D	0.000005	D	0.91185	0.7223	H	0.96518	3.835	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.93664	0.6984	10	0.87932	D	0	-0.8924	15.6104	0.76713	0.0:1.0:0.0:0.0	.	158	O43633	CHM2A_HUMAN	K	158	ENSP00000310440:E158K	ENSP00000310440:E158K	E	-	1	0	CHMP2A	63755241	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.129000	0.64739	2.639000	0.89480	0.650000	0.86243	GAG		0.512	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1		NM_014453		12	204	0	0	0	0.001855	0	12	204		
MYT1L	23040	broad.mit.edu	37	2	1906969	1906969	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:1906969C>G	ENST00000399161.2	-	14	2662	c.1915G>C	c.(1915-1917)Gag>Cag	p.E639Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.E637Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	639					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GAATATTTCTCGAGCTCCTTG	0.498																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(1915-1917)GAG>CAG		myelin transcription factor 1-like							125.0	115.0	118.0					2																	1906969		1936	4141	6077	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906969C>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1915G>C	2.37:g.1906969C>G	ENSP00000382114:p.Glu639Gln					MYT1L_uc002qxd.2_Missense_Mutation_p.E637Q|MYT1L_uc010ewl.1_RNA	p.E639Q	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2742	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	639					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1915G>C		.	.	.	.	.	.	.	.	.	.	C	20.9	4.069861	0.76301	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.59638	0.25;0.25	5.51	4.63	0.57726	Myelin transcription factor 1 (1);	0.044929	0.85682	D	0.000000	T	0.62986	0.2473	M	0.83603	2.65	0.80722	D	1	P;P	0.43542	0.81;0.728	B;B	0.40864	0.342;0.178	T	0.70857	-0.4758	10	0.87932	D	0	-39.2103	14.2321	0.65901	0.0:0.9281:0.0:0.0719	.	639;637	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	639;585;637	ENSP00000382114:E639Q;ENSP00000396103:E637Q	ENSP00000295067:E585Q	E	-	1	0	MYT1L	1885976	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.755000	0.85180	1.328000	0.45358	0.561000	0.74099	GAG		0.498	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		8	81	0	0	0	0.00308	0	8	81		
MYT1L	23040	broad.mit.edu	37	2	1926917	1926917	+	Silent	SNP	G	G	A	rs561075867		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:1926917G>A	ENST00000399161.2	-	10	1371	c.624C>T	c.(622-624)ctC>ctT	p.L208L	MYT1L_ENST00000428368.2_Silent_p.L208L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	208					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGATTTTGCCGAGGTTTAACA	0.423																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(622-624)CTC>CTT		myelin transcription factor 1-like							112.0	104.0	107.0					2																	1926917		1945	4159	6104	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926917G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.624C>T	2.37:g.1926917G>A						MYT1L_uc002qxd.2_Silent_p.L208L|MYT1L_uc010ewl.1_RNA	p.L208L	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1451	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	208					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.624C>T																																																																																					0.423	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		19	50	0	0	0	0.007413	0	19	50		
KIDINS220	57498	broad.mit.edu	37	2	8870993	8870993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:8870993G>A	ENST00000256707.3	-	30	5354	c.5173C>T	c.(5173-5175)Cag>Tag	p.Q1725*	KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q1626*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q1706*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q1706*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1725					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTCATTCTGAATAGTGGTT	0.463																																						uc002qzc.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(5173-5175)CAG>TAG		kinase D-interacting substrate of 220 kDa							152.0	142.0	145.0					2																	8870993		1906	4122	6028	SO:0001587	stop_gained	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8870993G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5173C>T	2.37:g.8870993G>A	ENSP00000256707:p.Gln1725*					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.Q1626*|KIDINS220_uc002qzb.2_Nonsense_Mutation_p.Q579*	p.Q1725*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	5355	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1725			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	ENST00000256707.3	37	c.5173C>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	44	10.929828	0.99490	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	.	.	.	5.93	5.93	0.95920	.	0.118551	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	.	.	.	X	1725;1706;1626;1706	.	ENSP00000256707:Q1725X	Q	-	1	0	KIDINS220	8788444	1.000000	0.71417	0.973000	0.42090	0.870000	0.49936	7.159000	0.77483	2.805000	0.96524	0.655000	0.94253	CAG		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		NM_020738		19	61	0	0	0	0.010504	0	19	61		
TAF1B	9014	broad.mit.edu	37	2	10045054	10045054	+	Missense_Mutation	SNP	C	C	T	rs374536272		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:10045054C>T	ENST00000263663.5	+	9	1062	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	TAF1B_ENST00000396242.3_Missense_Mutation_p.R37C	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	292	C-terminal cyclin fold.		R -> H (in dbSNP:rs16867223).		gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGATTTGCCTCGTTTTCCAGA	0.378																																						uc002qzz.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(874-876)CGT>TGT		TBP-associated factor 1B		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	95.0	100.0		874	5.7	1.0	2		100	0,8600		0,0,4300	no	missense	TAF1B	NM_005680.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	292/589	10045054	1,13005	2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10045054C>T	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.874C>T	2.37:g.10045054C>T	ENSP00000263663:p.Arg292Cys					TAF1B_uc010exc.2_Missense_Mutation_p.R292C|TAF1B_uc002qzy.3_Missense_Mutation_p.R292C|TAF1B_uc010yja.1_Missense_Mutation_p.R37C|TAF1B_uc010exd.2_Missense_Mutation_p.R37C	p.R292C	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN			9	974	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		292					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.874C>T	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674569	0.47781	2.27E-4	0.0	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.08634	3.07;3.07	5.67	5.67	0.87782	.	0.281428	0.42172	D	0.000746	T	0.28234	0.0697	M	0.73962	2.25	0.49389	D	0.999781	P;D	0.89917	0.793;1.0	B;D	0.81914	0.132;0.995	T	0.00250	-1.1878	9	.	.	.	-18.1011	13.9937	0.64382	0.0:0.9277:0.0:0.0723	.	292;292	Q53T94;Q53T94-2	TAF1B_HUMAN;.	C	292;37	ENSP00000263663:R292C;ENSP00000379542:R37C	.	R	+	1	0	TAF1B	9962505	0.989000	0.36119	0.990000	0.47175	0.931000	0.56810	2.350000	0.44063	2.673000	0.90976	0.467000	0.42956	CGT		0.378	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2		NM_005680		8	136	0	0	0	0.004482	0	8	136		
APOB	338	broad.mit.edu	37	2	21233505	21233505	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:21233505C>T	ENST00000233242.1	-	26	6362	c.6235G>A	c.(6235-6237)Gaa>Aaa	p.E2079K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2079	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAAATATTCTTGCAAGGTC	0.343																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6235-6237)GAA>AAA		apolipoprotein B precursor	Atorvastatin(DB01076)						67.0	76.0	73.0					2																	21233505		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233505C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6235G>A	2.37:g.21233505C>T	ENSP00000233242:p.Glu2079Lys						p.E2079K	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6363	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2079			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6235G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756294	0.31137	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00686	5.85	5.14	3.32	0.38043	.	0.450598	0.18893	N	0.128252	T	0.00695	0.0023	L	0.36672	1.1	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.46456	-0.9190	10	0.06757	T	0.87	.	6.7855	0.23672	0.1412:0.7094:0.0:0.1494	.	2079	P04114	APOB_HUMAN	K	2079	ENSP00000233242:E2079K	ENSP00000233242:E2079K	E	-	1	0	APOB	21087010	0.033000	0.19621	0.935000	0.37517	0.829000	0.46940	0.935000	0.28924	0.536000	0.28733	0.561000	0.74099	GAA		0.343	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				22	79	0	0	0	0.012319	0	22	79		
ITSN2	50618	broad.mit.edu	37	2	24483991	24483991	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:24483991G>A	ENST00000355123.4	-	22	3109	c.2666C>T	c.(2665-2667)tCa>tTa	p.S889L	ITSN2_ENST00000361999.3_Missense_Mutation_p.S862L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S889L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	889					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAATAGGTGATACAGATCC	0.343																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(2665-2667)TCA>TTA		intersectin 2 isoform 1							122.0	114.0	117.0					2																	24483991		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24483991G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2666C>T	2.37:g.24483991G>A	ENSP00000347244:p.Ser889Leu					ITSN2_uc002rff.2_Missense_Mutation_p.S862L|ITSN2_uc002rfg.2_Missense_Mutation_p.S889L	p.S889L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			22	2924	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		889					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.2666C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430286	0.62844	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.12	5.12	0.69794	Src homology-3 domain (1);	0.000000	0.32041	U	0.006680	T	0.43055	0.1230	L	0.52011	1.625	0.52099	D	0.999943	D;D;D	0.61080	0.989;0.989;0.981	D;D;D	0.75020	0.985;0.985;0.966	T	0.26430	-1.0103	10	0.66056	D	0.02	.	18.9433	0.92612	0.0:0.0:1.0:0.0	.	889;862;889	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	L	862;889;862;889	ENSP00000354561:S862L;ENSP00000347244:S889L;ENSP00000370250:S862L;ENSP00000384499:S889L	ENSP00000347244:S889L	S	-	2	0	ITSN2	24337495	1.000000	0.71417	0.985000	0.45067	0.785000	0.44390	7.115000	0.77110	2.569000	0.86673	0.555000	0.69702	TCA		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		20	49	0	0	0	0.012319	0	20	49		
NCOA1	8648	broad.mit.edu	37	2	24896249	24896249	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:24896249G>A	ENST00000406961.1	+	7	923	c.271G>A	c.(271-273)Gat>Aat	p.D91N	NCOA1_ENST00000395856.3_Missense_Mutation_p.D91N|NCOA1_ENST00000538539.1_Missense_Mutation_p.D91N|RNU6-936P_ENST00000384005.1_RNA|NCOA1_ENST00000288599.5_Missense_Mutation_p.D91N|NCOA1_ENST00000405141.1_Missense_Mutation_p.D91N|NCOA1_ENST00000348332.3_Missense_Mutation_p.D91N|NCOA1_ENST00000407230.1_De_novo_Start_OutOfFrame			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	91					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)					ATCAACAACTGATGACGATGT	0.348			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		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.(271-273)GAT>AAT		nuclear receptor coactivator 1 isoform 1							88.0	91.0	90.0					2																	24896249		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24896249G>A	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.271G>A	2.37:g.24896249G>A	ENSP00000385216:p.Asp91Asn					NCOA1_uc010eye.2_Missense_Mutation_p.D91N|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Missense_Mutation_p.D91N|NCOA1_uc002rfl.2_Missense_Mutation_p.D91N	p.D91N	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			5	529	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		91					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.271G>A	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293872	0.60086	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T	0.02015	4.5;4.5;4.5;4.5;4.5;4.5	4.84	4.84	0.62591	Helix-loop-helix DNA-binding (2);	0.050686	0.85682	D	0.000000	T	0.03011	0.0089	L	0.28115	0.83	0.52501	D	0.999956	P;B;B	0.46784	0.884;0.125;0.198	B;B;B	0.42555	0.391;0.118;0.234	T	0.61955	-0.6956	10	0.48119	T	0.1	.	17.7266	0.88367	0.0:0.0:1.0:0.0	.	91;91;91	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	N	91	ENSP00000385216:D91N;ENSP00000385097:D91N;ENSP00000444039:D91N;ENSP00000320940:D91N;ENSP00000288599:D91N;ENSP00000379197:D91N	ENSP00000288599:D91N	D	+	1	0	NCOA1	24749753	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.680000	0.84062	2.498000	0.84270	0.561000	0.74099	GAT		0.348	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		24	103	0	0	0	0.004656	0	24	103		
NCOA1	8648	broad.mit.edu	37	2	24896300	24896300	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:24896300G>C	ENST00000406961.1	+	7	974	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	NCOA1_ENST00000395856.3_Missense_Mutation_p.E108Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.E108Q|RNU6-936P_ENST00000384005.1_RNA|NCOA1_ENST00000288599.5_Missense_Mutation_p.E108Q|NCOA1_ENST00000405141.1_Missense_Mutation_p.E108Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.E108Q|NCOA1_ENST00000407230.1_5'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	108					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)					AGGAGTGATAGAAAAGGAATC	0.338			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		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.(322-324)GAA>CAA		nuclear receptor coactivator 1 isoform 1							111.0	115.0	114.0					2																	24896300		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24896300G>C	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.322G>C	2.37:g.24896300G>C	ENSP00000385216:p.Glu108Gln					NCOA1_uc010eye.2_Missense_Mutation_p.E108Q|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Missense_Mutation_p.E108Q|NCOA1_uc002rfl.2_Missense_Mutation_p.E108Q	p.E108Q	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			5	580	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		108					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.322G>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945613	0.92593	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T	0.01854	4.6;4.6;4.6;4.6;4.6;4.6	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.50333	1.59	0.80722	D	1	D;B;D	0.71674	0.998;0.367;0.958	D;B;D	0.77557	0.99;0.205;0.953	T	0.01574	-1.1321	10	0.72032	D	0.01	-15.8502	18.0492	0.89342	0.0:0.0:1.0:0.0	.	108;108;108	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	Q	108	ENSP00000385216:E108Q;ENSP00000385097:E108Q;ENSP00000444039:E108Q;ENSP00000320940:E108Q;ENSP00000288599:E108Q;ENSP00000379197:E108Q	ENSP00000288599:E108Q	E	+	1	0	NCOA1	24749804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.469000	0.97679	2.579000	0.87056	0.561000	0.74099	GAA		0.338	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		30	105	0	0	0	0.012213	0	30	105		
ASXL2	55252	broad.mit.edu	37	2	26029159	26029159	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:26029159G>A	ENST00000435504.4	-	4	484	c.191C>T	c.(190-192)tCc>tTc	p.S64F	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.S36F|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	64					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACCTCTGGAGTTTGTGTG	0.388																																						uc002rgs.2		NaN																	0				pancreas(1)	1						c.(190-192)TCC>TTC		additional sex combs like 2							54.0	51.0	52.0					2																	26029159		1885	4117	6002	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26029159G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.191C>T	2.37:g.26029159G>A	ENSP00000391447:p.Ser64Phe						p.S64F	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			3	412	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		64					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.191C>T		.	.	.	.	.	.	.	.	.	.	G	27.1	4.798841	0.90538	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.27256	1.73;1.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49872	-0.8893	10	0.87932	D	0	-14.6167	18.098	0.89497	0.0:0.0:1.0:0.0	.	64	Q76L83	ASXL2_HUMAN	F	64;36	ENSP00000391447:S64F;ENSP00000337250:S36F	ENSP00000337250:S36F	S	-	2	0	ASXL2	25882663	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.285000	0.95894	2.687000	0.91594	0.563000	0.77884	TCC		0.388	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		4	32	0	0	0	0.000602	0	4	32		
DPY30	84661	broad.mit.edu	37	2	32264363	32264363	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:32264363G>C	ENST00000342166.5	-	3	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	DPY30_ENST00000295066.3_Silent_p.L23L			Q9C005	DPY30_HUMAN	dpy-30 homolog (C. elegans)	23					endosomal transport (GO:0016197)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(2)	2	Acute lymphoblastic leukemia(172;0.155)					CGTTGTCTGTGAGACCGTACT	0.493																																						uc002roa.1		NaN																	0					0						c.(67-69)CTC>CTG		dpy-30-like protein							151.0	152.0	152.0					2																	32264363		2203	4300	6503	SO:0001819	synonymous_variant	84661				endosome transport|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|trans-Golgi network	protein homodimerization activity	g.chr2:32264363G>C		CCDS1777.1	2p22.3	2013-09-09			ENSG00000162961	ENSG00000162961			24590	protein-coding gene	gene with protein product		612032				12477932	Standard	XM_006712117		Approved	Saf19, HDPY-30, Cps25	uc002roa.1	Q9C005	OTTHUMG00000128457	ENST00000342166.5:c.69C>G	2.37:g.32264363G>C						MEMO1_uc010ymv.1_RNA|DPY30_uc002rob.1_Silent_p.L23L	p.L23L	NM_032574	NP_115963	Q9C005	DPY30_HUMAN			3	288	-	Acute lymphoblastic leukemia(172;0.155)		23					D6W578	Silent	SNP	ENST00000342166.5	37	c.69C>G	CCDS1777.1																																																																																				0.493	DPY30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250255.2		NM_032574		16	112	0	0	0	0.00499	0	16	112		
VIT	5212	broad.mit.edu	37	2	36994259	36994259	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:36994259G>A	ENST00000389975.3	+	7	812	c.510G>A	c.(508-510)caG>caA	p.Q170Q	VIT_ENST00000401530.1_Silent_p.Q170Q|VIT_ENST00000379242.3_Silent_p.Q170Q|VIT_ENST00000379241.3_Silent_p.Q170Q|VIT_ENST00000404084.1_Silent_p.Q148Q|VIT_ENST00000497382.1_5'UTR	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	170					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AAGCCTATCAGAGGCCACCTA	0.468																																						uc002rpl.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(508-510)CAG>CAA		vitrin							62.0	60.0	60.0					2																	36994259		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:36994259G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.510G>A	2.37:g.36994259G>A						VIT_uc010ynf.1_Intron|VIT_uc002rpm.2_Silent_p.Q163Q|VIT_uc010ezv.2_Silent_p.Q163Q|VIT_uc010ezw.2_Silent_p.Q163Q	p.Q170Q	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			7	731	+		all_hematologic(82;0.248)	170					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.510G>A	CCDS54347.1																																																																																				0.468	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding					8	33	0	0	0	0.006214	0	8	33		
ARHGAP25	9938	broad.mit.edu	37	2	69045056	69045056	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:69045056C>T	ENST00000295381.3	+	8	1349	c.930C>T	c.(928-930)gaC>gaT	p.D310D	ARHGAP25_ENST00000479844.1_Silent_p.D4D|ARHGAP25_ENST00000497079.1_Silent_p.D304D|ARHGAP25_ENST00000467265.1_Silent_p.D271D|ARHGAP25_ENST00000409220.1_Silent_p.D304D|ARHGAP25_ENST00000409202.3_Silent_p.D311D|ARHGAP25_ENST00000409030.3_Silent_p.D303D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	310	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)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGAGTGTGGACAACCTGGCTA	0.488																																						uc002seu.2		NaN																	0				ovary(2)|breast(2)	4						c.(928-930)GAC>GAT		Rho GTPase activating protein 25 isoform a							178.0	158.0	165.0					2																	69045056		2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69045056C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.930C>T	2.37:g.69045056C>T						ARHGAP25_uc010fdg.2_Silent_p.D311D|ARHGAP25_uc010yql.1_Silent_p.D271D|ARHGAP25_uc002sev.2_Silent_p.D304D|ARHGAP25_uc002sew.2_Silent_p.D303D|ARHGAP25_uc002sex.2_Silent_p.D304D|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Silent_p.D37D	p.D310D	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			8	1294	+			310			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.930C>T		.	.	.	.	.	.	.	.	.	.	C	10.56	1.383902	0.25031	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.84	1.52	0.23074	.	.	.	.	.	T	0.52191	0.1719	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39187	-0.9626	4	.	.	.	.	5.7774	0.18287	0.0:0.4845:0.1297:0.3858	.	.	.	.	I	170	.	.	T	+	2	0	ARHGAP25	68898560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.993000	0.29680	0.282000	0.22254	0.650000	0.86243	ACA		0.488	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014882		27	37	0	0	0	0.004656	0	27	37		
TACR1	6869	broad.mit.edu	37	2	75280808	75280808	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:75280808C>T	ENST00000305249.5	-	3	1424	c.659G>A	c.(658-660)gGa>gAa	p.G220E	TACR1_ENST00000409848.3_Missense_Mutation_p.G220E	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	220					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGTGTGATTCCCACTACGGT	0.552											OREG0014726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(64;62 1268 3653 14826 43765)	uc002sng.2		NaN																	0				ovary(1)	1						c.(658-660)GGA>GAA		tachykinin receptor 1 isoform long	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						115.0	95.0	102.0					2																	75280808		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75280808C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.659G>A	2.37:g.75280808C>T	ENSP00000303522:p.Gly220Glu		OREG0014726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1159	TACR1_uc002snh.2_Missense_Mutation_p.G220E	p.G220E	NM_001058	NP_001049	P25103	NK1R_HUMAN			3	1244	-			220			Cytoplasmic (Potential).		A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.659G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863382	0.91511	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.37752	1.18;1.18	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.050525	0.85682	D	0.000000	T	0.71728	0.3374	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81586	-0.0865	10	0.87932	D	0	.	15.7462	0.77944	0.0:1.0:0.0:0.0	.	220	P25103	NK1R_HUMAN	E	220	ENSP00000303522:G220E;ENSP00000386448:G220E	ENSP00000303522:G220E	G	-	2	0	TACR1	75134316	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	7.568000	0.82369	2.556000	0.86216	0.561000	0.74099	GGA		0.552	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3		NM_001058		7	44	0	0	0	0.001984	0	7	44		
LRRTM1	347730	broad.mit.edu	37	2	80529917	80529917	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:80529917G>A	ENST00000295057.3	-	2	1684	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A343V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	343	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTCCGGGCTGGCGCACTGCAA	0.677										HNSCC(69;0.2)																												uc002sok.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1027-1029)GCC>GTC		leucine rich repeat transmembrane neuronal 1							24.0	23.0	24.0					2																	80529917		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529917G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1028C>T	2.37:g.80529917G>A	ENSP00000295057:p.Ala343Val	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.A343V	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1298	-			343			LRRCT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1028C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867724	0.51588	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.45668	0.89;0.89	5.32	4.42	0.53409	.	0.144128	0.46442	U	0.000283	T	0.34279	0.0892	L	0.39514	1.22	0.49299	D	0.999774	B	0.27450	0.179	B	0.24394	0.053	T	0.06954	-1.0798	9	.	.	.	.	15.1966	0.73096	0.0:0.0:0.858:0.142	.	343	Q86UE6	LRRT1_HUMAN	V	343	ENSP00000295057:A343V;ENSP00000386646:A343V	.	A	-	2	0	LRRTM1	80383428	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.856000	0.99531	1.168000	0.42723	0.655000	0.94253	GCC		0.677	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1		NM_178839		8	13	0	0	0	0.00308	0	8	13		
TGOLN2	10618	broad.mit.edu	37	2	85554310	85554310	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:85554310G>A	ENST00000409232.3	-	2	606	c.545C>T	c.(544-546)tCg>tTg	p.S182L	TGOLN2_ENST00000398263.2_Missense_Mutation_p.S182L|TGOLN2_ENST00000409015.1_Missense_Mutation_p.S182L|TGOLN2_ENST00000282120.2_Missense_Mutation_p.S84L|TGOLN2_ENST00000377386.3_Missense_Mutation_p.S182L|TGOLN2_ENST00000444342.2_Missense_Mutation_p.S182L			O43493	TGON2_HUMAN	trans-golgi network protein 2	182	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GTCCGCACCCGACTTATTAGG	0.592																																						uc010fgd.1		NaN																	0					0						c.(544-546)TCG>TTG		trans-golgi network protein 2							305.0	305.0	305.0					2																	85554310		1925	4131	6056	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554310G>A	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.545C>T	2.37:g.85554310G>A	ENSP00000386443:p.Ser182Leu					TGOLN2_uc002soz.2_Missense_Mutation_p.S182L|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.S182L|TGOLN2_uc002spc.1_Missense_Mutation_p.S182L	p.S182L	NM_006464	NP_006455	O43493	TGON2_HUMAN			2	834	-			182			Extracellular (Potential).|10.|14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.545C>T	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624824	0.46840	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.20332	2.68;2.08;2.46;2.69;2.68;2.64	1.52	-3.04	0.05412	.	.	.	.	.	T	0.31888	0.0811	L	0.59436	1.845	0.09310	N	1	P;P;D;P	0.71674	0.838;0.838;0.998;0.838	B;B;D;B	0.72982	0.075;0.075;0.979;0.075	T	0.14504	-1.0470	9	0.39692	T	0.17	2.2291	3.8826	0.09085	0.0:0.2108:0.3256:0.4637	.	182;182;182;182	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	L	182;84;182;182;182;182	ENSP00000366603:S182L;ENSP00000282120:S84L;ENSP00000381312:S182L;ENSP00000386443:S182L;ENSP00000387035:S182L;ENSP00000391190:S182L	ENSP00000282120:S84L	S	-	2	0	TGOLN2	85407821	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.550000	0.23345	-0.890000	0.03945	0.297000	0.19635	TCG		0.592	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2		NM_006464		217	378	0	0	0	0.01441	0	217	378		
PTCD3	55037	broad.mit.edu	37	2	86364195	86364195	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:86364195C>T	ENST00000254630.7	+	23	1977	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	637					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CAAGTGCCTTCAGCTTACCTA	0.438																																						uc002sqw.2		NaN																	0				ovary(1)	1						c.(1909-1911)TTC>TTT		pentatricopeptide repeat domain 3 precursor							150.0	149.0	149.0					2																	86364195		2203	4300	6503	SO:0001819	synonymous_variant	55037					mitochondrion	protein binding	g.chr2:86364195C>T		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1911C>T	2.37:g.86364195C>T						PTCD3_uc002sqx.1_Silent_p.F227F	p.F637F	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			23	1977	+			637					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	ENST00000254630.7	37	c.1911C>T	CCDS33235.1																																																																																				0.438	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1		NM_017952		27	169	0	0	0	0.004656	0	27	169		
ACTR1B	10120	broad.mit.edu	37	2	98274919	98274919	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:98274919C>T	ENST00000289228.5	-	6	844	c.628G>A	c.(628-630)Gag>Aag	p.E210K		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	210					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						ACCTCAAACTCAGCCGAGGTA	0.617																																						uc002syb.2		NaN																	0				skin(1)	1						c.(628-630)GAG>AAG		ARP1 actin-related protein 1 homolog B,							85.0	87.0	86.0					2																	98274919		2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98274919C>T	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.628G>A	2.37:g.98274919C>T	ENSP00000289228:p.Glu210Lys						p.E210K	NM_005735	NP_005726	P42025	ACTY_HUMAN			6	836	-			210					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.628G>A	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	35	5.588612	0.96590	.	.	ENSG00000115073	ENST00000289228	T	0.08896	3.04	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50600	-0.8809	10	0.87932	D	0	.	16.7682	0.85529	0.0:1.0:0.0:0.0	.	210	P42025	ACTY_HUMAN	K	210	ENSP00000289228:E210K	ENSP00000289228:E210K	E	-	1	0	ACTR1B	97641351	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.795000	0.85887	2.560000	0.86352	0.655000	0.94253	GAG		0.617	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1		NM_005735		7	30	0	0	0	0.004482	0	7	30		
AFF3	3899	broad.mit.edu	37	2	100210735	100210735	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:100210735G>A	ENST00000409236.2	-	13	1500	c.1388C>T	c.(1387-1389)tCt>tTt	p.S463F	AFF3_ENST00000317233.4_Missense_Mutation_p.S463F|AFF3_ENST00000409579.1_Missense_Mutation_p.S488F|AFF3_ENST00000356421.2_Missense_Mutation_p.S488F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	463					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCACTTGTTAGAGGATGCCGG	0.443																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1387-1389)TCT>TTT		AF4/FMR2 family, member 3 isoform 1							129.0	143.0	139.0					2																	100210735		2077	4228	6305	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210735G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1388C>T	2.37:g.100210735G>A	ENSP00000387207:p.Ser463Phe					AFF3_uc002taf.2_Missense_Mutation_p.S488F|AFF3_uc010fiq.1_Missense_Mutation_p.S463F|AFF3_uc010yvr.1_Missense_Mutation_p.S616F|AFF3_uc002tah.1_Missense_Mutation_p.S488F	p.S463F	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	1624	-			463					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1388C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690115	0.68271	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.87	5.87	0.94306	.	0.226062	0.32852	N	0.005580	T	0.79246	0.4413	M	0.68952	2.095	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.79108	0.992;0.973;0.987	T	0.79529	-0.1766	10	0.72032	D	0.01	.	19.8183	0.96579	0.0:0.0:1.0:0.0	.	616;463;488	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	F	463;488;488;463;463;616;488	ENSP00000317421:S463F;ENSP00000348793:S488F;ENSP00000386834:S488F;ENSP00000387207:S463F	ENSP00000317421:S463F	S	-	2	0	AFF3	99577167	1.000000	0.71417	0.897000	0.35233	0.504000	0.33889	8.529000	0.90602	2.781000	0.95711	0.655000	0.94253	TCT		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		32	214	0	0	0	0.010818	0	32	214		
SEPT10	151011	broad.mit.edu	37	2	110332202	110332202	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:110332202G>C	ENST00000397712.2	-	5	934	c.556C>G	c.(556-558)Ctg>Gtg	p.L186V	SEPT10_ENST00000437928.1_Missense_Mutation_p.L171V|SEPT10_ENST00000356688.4_Missense_Mutation_p.L186V|SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000415095.1_Missense_Mutation_p.L186V|SEPT10_ENST00000397714.2_Missense_Mutation_p.L163V|SEPT10_ENST00000334001.6_Missense_Mutation_p.L53V	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	186	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						AGTGTCTTCAGAGAGTGGCCT	0.393																																						uc002tew.2		NaN																	0					0						c.(556-558)CTG>GTG		septin 10 isoform 1							109.0	105.0	106.0					2																	110332202		1903	4127	6030	SO:0001583	missense	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110332202G>C	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.556C>G	2.37:g.110332202G>C	ENSP00000380824:p.Leu186Val					SEPT10_uc010ywu.1_Intron|SEPT10_uc002tex.2_Missense_Mutation_p.L163V|SEPT10_uc002tey.2_Missense_Mutation_p.L186V|SEPT10_uc010ywv.1_Missense_Mutation_p.L52V|SEPT10_uc002tev.1_5'UTR|SEPT10_uc010fjo.2_RNA	p.L186V	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			5	935	-			186					B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	c.556C>G	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192124	0.78902	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000415095	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	4.91	4.91	0.64330	.	0.113191	0.38720	N	0.001591	D	0.86167	0.5868	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;0.995	D;D;D;P	0.87578	0.983;0.998;0.978;0.85	D	0.90465	0.4449	10	0.87932	D	0	.	18.6427	0.91400	0.0:0.0:1.0:0.0	.	53;186;163;186	B7Z371;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;SEP10_HUMAN	V	144;186;186;163;53;171;186	ENSP00000349116:L186V;ENSP00000380824:L186V;ENSP00000380826:L163V;ENSP00000334234:L53V;ENSP00000407790:L171V;ENSP00000396728:L186V	ENSP00000334234:L53V	L	-	1	2	SEPT10	109689491	1.000000	0.71417	0.996000	0.52242	0.722000	0.41435	7.263000	0.78421	2.703000	0.92315	0.591000	0.81541	CTG		0.393	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1		NM_144710		16	66	0	0	0	0.007413	0	16	66		
TMEM87B	84910	broad.mit.edu	37	2	112858208	112858208	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:112858208C>T	ENST00000283206.4	+	15	1755	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	462						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GATATGCCTTCATGCCCTTAA	0.274																																						uc002thm.2		NaN																	0					0						c.(1384-1386)TTC>TTT		transmembrane protein 87B precursor							89.0	92.0	91.0					2																	112858208		2202	4290	6492	SO:0001819	synonymous_variant	84910					integral to membrane		g.chr2:112858208C>T	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1386C>T	2.37:g.112858208C>T							p.F462F	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			15	1755	+			462					A8K2M9|Q1RLN2|Q53R54	Silent	SNP	ENST00000283206.4	37	c.1386C>T	CCDS33275.1																																																																																				0.274	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1		NM_032824		7	68	0	0	0	0.00308	0	7	68		
EN1	2019	broad.mit.edu	37	2	119600601	119600601	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:119600601G>C	ENST00000295206.6	-	2	1602	c.1092C>G	c.(1090-1092)atC>atG	p.I364M	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	364					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GGCCGTTCTTGATGCCTGTGG	0.612																																						uc002tlm.2		NaN																	0				large_intestine(1)|lung(1)	2						c.(1090-1092)ATC>ATG		engrailed homeobox 1							78.0	69.0	72.0					2																	119600601		2203	4300	6503	SO:0001583	missense	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600601G>C	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1092C>G	2.37:g.119600601G>C	ENSP00000295206:p.Ile364Met						p.I364M	NM_001426	NP_001417	Q05925	HME1_HUMAN			2	2108	-			364					Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	c.1092C>G	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603268	0.28534	.	.	ENSG00000163064	ENST00000295206	D	0.91124	-2.79	5.13	0.404	0.16355	Homeobox (1);Homeodomain-like (1);Homeobox engrailed, C-terminal (1);	0.281878	0.34025	N	0.004325	T	0.77301	0.4110	N	0.03608	-0.345	0.27960	N	0.936821	B	0.26400	0.148	B	0.24006	0.05	T	0.64871	-0.6305	10	0.33940	T	0.23	-11.2223	14.4603	0.67445	0.2039:0.0:0.7961:0.0	.	364	Q05925	HME1_HUMAN	M	364	ENSP00000295206:I364M	ENSP00000295206:I364M	I	-	3	3	EN1	119317071	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.745000	0.38278	-0.087000	0.12528	-0.381000	0.06696	ATC		0.612	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3				8	43	0	0	0	0.00308	0	8	43		
CLASP1	23332	broad.mit.edu	37	2	122122825	122122825	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:122122825G>A	ENST00000263710.4	-	36	4311	c.3922C>T	c.(3922-3924)Ctg>Ttg	p.L1308L	CLASP1_ENST00000409078.3_Silent_p.L1241L|CLASP1_ENST00000545861.1_Silent_p.L1015L|CLASP1_ENST00000541377.1_Silent_p.L1247L|CLASP1_ENST00000541859.1_Silent_p.L1025L|CLASP1_ENST00000455322.2_Silent_p.L1264L|CLASP1_ENST00000397587.3_Silent_p.L1248L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1308	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AGCTCTTTCAGAAGGTCAGCC	0.572																																						uc002tnc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3922-3924)CTG>TTG		CLIP-associating protein 1 isoform 1							58.0	61.0	60.0					2																	122122825		2103	4230	6333	SO:0001819	synonymous_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122122825G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3922C>T	2.37:g.122122825G>A						CLASP1_uc010yyv.1_Silent_p.L354L|CLASP1_uc002tmz.2_Silent_p.L393L|CLASP1_uc002tna.2_Silent_p.L354L|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.L1249L|CLASP1_uc010yza.1_Silent_p.L1241L|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Silent_p.L144L|CLASP1_uc002tnf.2_Silent_p.L210L	p.L1308L	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			35	4312	-	Renal(3;0.0496)		1308			Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Potential.|Interaction with CLIP2 (By similarity).		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37	c.3922C>T																																																																																					0.572	CLASP1-201	KNOWN	basic	protein_coding	protein_coding			NM_015282		3	21	0	0	0	0.004672	0	3	21		
POTEF	728378	broad.mit.edu	37	2	130843513	130843513	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:130843513C>G	ENST00000409914.2	-	15	2051	c.1652G>C	c.(1651-1653)gGa>gCa	p.G551A	POTEF_ENST00000357462.5_Missense_Mutation_p.G551A|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	551					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						TTCTGGGAATCCGACATGAGT	0.398																																						uc010fmh.2		NaN																	0				skin(3)|ovary(2)	5						c.(1651-1653)GGA>GCA		prostate, ovary, testis expressed protein on							44.0	50.0	48.0					2																	130843513		1078	2922	4000	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130843513C>G	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.1652G>C	2.37:g.130843513C>G	ENSP00000386786:p.Gly551Ala						p.G551A	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			15	2052	-			551					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.1652G>C	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	9.078	0.998566	0.19121	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.84800	-1.9;-1.9	0.719	-1.44	0.08856	.	.	.	.	.	T	0.65196	0.2668	N	0.24115	0.695	0.09310	N	1	P	0.36222	0.544	B	0.20955	0.032	T	0.52704	-0.8540	8	0.28530	T	0.3	.	.	.	.	.	551	A5A3E0	POTEF_HUMAN	A	551	ENSP00000350052:G551A;ENSP00000386786:G551A	ENSP00000350052:G551A	G	-	2	0	POTEF	130559983	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.040000	0.03546	-0.785000	0.04522	0.184000	0.17185	GGA		0.398	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2		NM_001099771		32	16	0	0	0	0.013726	0	32	16		
LRP1B	53353	broad.mit.edu	37	2	141533803	141533803	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:141533803C>T	ENST00000389484.3	-	33	6335	c.5364G>A	c.(5362-5364)aaG>aaA	p.K1788K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1788					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCACAGTTTCTTATCTAGAA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5362-5364)AAG>AAA		low density lipoprotein-related protein 1B							77.0	73.0	75.0					2																	141533803		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533803C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5364G>A	2.37:g.141533803C>T		TSP Lung(27;0.18)					p.K1788K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	33	6336	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1788			Extracellular (Potential).|LDL-receptor class B 18.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.5364G>A	CCDS2182.1																																																																																				0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		8	34	0	0	0	0.00308	0	8	34		
TANC1	85461	broad.mit.edu	37	2	160050867	160050867	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:160050867G>C	ENST00000263635.6	+	17	3079	c.2842G>C	c.(2842-2844)Gag>Cag	p.E948Q	TANC1_ENST00000454300.1_Missense_Mutation_p.E842Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	948					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTGGCCACGAGGAAGTTGT	0.557																																						uc002uag.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2842-2844)GAG>CAG		tetratricopeptide repeat, ankyrin repeat and							72.0	74.0	73.0					2																	160050867		2089	4211	6300	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050867G>C	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2842G>C	2.37:g.160050867G>C	ENSP00000263635:p.Glu948Gln					TANC1_uc010zcm.1_Missense_Mutation_p.E940Q|TANC1_uc010fom.1_Missense_Mutation_p.E754Q	p.E948Q	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			17	3116	+			948			ANK 2.		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2842G>C	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214882	0.39102	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.65178	-0.14;-0.1	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.104931	0.64402	D	0.000004	T	0.58380	0.2118	L	0.42008	1.315	0.49130	D	0.99975	B;B;B	0.27679	0.121;0.099;0.185	B;B;B	0.30401	0.068;0.072;0.115	T	0.52682	-0.8543	10	0.23302	T	0.38	.	19.4918	0.95052	0.0:0.0:1.0:0.0	.	940;842;948	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	Q	842;948	ENSP00000396339:E842Q;ENSP00000263635:E948Q	ENSP00000263635:E948Q	E	+	1	0	TANC1	159759113	1.000000	0.71417	0.959000	0.39883	0.971000	0.66376	3.553000	0.53713	2.616000	0.88540	0.558000	0.71614	GAG		0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				6	75	0	0	0	0.00308	0	6	75		
MARCH7	64844	broad.mit.edu	37	2	160609027	160609027	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:160609027G>C	ENST00000259050.4	+	6	1850	c.1728G>C	c.(1726-1728)ttG>ttC	p.L576F	MARCH7_ENST00000409175.1_Missense_Mutation_p.L576F|MARCH7_ENST00000539065.1_Missense_Mutation_p.L520F|MARCH7_ENST00000409591.1_Missense_Mutation_p.L538F	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	576					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CAGGAAGTTTGCAGTATGTCC	0.383																																						uc002uax.2		NaN																	0					0						c.(1726-1728)TTG>TTC		axotrophin							163.0	153.0	157.0					2																	160609027		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160609027G>C	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1728G>C	2.37:g.160609027G>C	ENSP00000259050:p.Leu576Phe					MARCH7_uc010foq.2_Missense_Mutation_p.L576F|MARCH7_uc010zcn.1_Missense_Mutation_p.L520F|MARCH7_uc010for.2_Missense_Mutation_p.L538F|MARCH7_uc002uay.2_RNA	p.L576F	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			6	1850	+			576			RING-CH-type.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.1728G>C	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009186	0.75046	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591;ENST00000420397	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.78	0.916	0.19373	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.93328	3.405	0.50813	D	0.999897	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.66606	-0.5881	10	0.87932	D	0	-19.5412	5.4968	0.16807	0.309:0.0:0.5671:0.1239	.	520;538;576	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	F	576;520;576;538;9	ENSP00000386830:L576F;ENSP00000442992:L520F;ENSP00000259050:L576F;ENSP00000387238:L538F;ENSP00000391493:L9F	ENSP00000259050:L576F	L	+	3	2	MARCH7	160317273	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.722000	0.38042	-0.118000	0.11851	0.655000	0.94253	TTG		0.383	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3		NM_022826		48	121	0	0	0	0.01441	0	48	121		
DHRS9	10170	broad.mit.edu	37	2	169939910	169939910	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:169939910G>A	ENST00000327239.4	+	6	1889	c.385G>A	c.(385-387)Gac>Aac	p.D129N	DHRS9_ENST00000412271.1_Missense_Mutation_p.D129N|DHRS9_ENST00000436483.2_Missense_Mutation_p.D129N|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.D129N|DHRS9_ENST00000602501.1_Missense_Mutation_p.D129N|DHRS9_ENST00000432060.2_Missense_Mutation_p.D189N|DHRS9_ENST00000428522.1_Missense_Mutation_p.D129N	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	129					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GACACTAGAGGACTACAGAGA	0.468																																						uc002uep.2		NaN																	0					0						c.(385-387)GAC>AAC		NADP-dependent retinol dehydrogenase/reductase							133.0	120.0	124.0					2																	169939910		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169939910G>A	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.385G>A	2.37:g.169939910G>A	ENSP00000316670:p.Asp129Asn					DHRS9_uc002ueq.2_Missense_Mutation_p.D129N|DHRS9_uc010zdc.1_Missense_Mutation_p.D189N|DHRS9_uc010zdd.1_Missense_Mutation_p.D129N|DHRS9_uc010zde.1_Missense_Mutation_p.D129N	p.D129N	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN			6	1889	+			129					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.385G>A	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488054	0.84854	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.82	3.97	0.46021	NAD(P)-binding domain (1);	0.090410	0.64402	D	0.000001	D	0.90431	0.7004	M	0.79343	2.45	0.51482	D	0.999926	P;P	0.42757	0.789;0.699	P;P	0.49597	0.516;0.616	D	0.90987	0.4832	10	0.49607	T	0.09	.	15.434	0.75129	0.0:0.374:0.626:0.0	.	189;129	B7Z416;Q9BPW9	.;DHRS9_HUMAN	N	129;129;189;129;129;129	ENSP00000316670:D129N;ENSP00000350154:D129N;ENSP00000389241:D189N;ENSP00000388564:D129N;ENSP00000407167:D129N;ENSP00000407747:D129N	ENSP00000316670:D129N	D	+	1	0	DHRS9	169648156	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.845000	0.62853	1.459000	0.47892	0.655000	0.94253	GAC		0.468	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3		NM_005771		16	119	0	0	0	0.003163	0	16	119		
KLHL41	10324	broad.mit.edu	37	2	170366331	170366331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:170366331C>T	ENST00000284669.1	+	1	120	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	15					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											GCGGCTTTACCAATCCACCCT	0.488																																						uc002ueu.1		NaN																	0					0						c.(43-45)CAA>TAA		kelch repeat and BTB (POZ) domain containing 10							86.0	90.0	88.0					2																	170366331		2203	4300	6503	SO:0001587	stop_gained	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170366331C>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.43C>T	2.37:g.170366331C>T	ENSP00000284669:p.Gln15*					KBTBD10_uc010zdh.1_Intron	p.Q15*	NM_006063	NP_006054	O60662	KBTBA_HUMAN			1	120	+			15					Q53R42	Nonsense_Mutation	SNP	ENST00000284669.1	37	c.43C>T	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735616	0.96865	.	.	ENSG00000239474	ENST00000284669	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.3546	0.90353	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000284669:Q15X	Q	+	1	0	KBTBD10	170074577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.453000	0.80700	2.323000	0.78572	0.585000	0.79938	CAA		0.488	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1		NM_006063		47	102	0	0	0	0.013114	0	47	102		
GAD1	2571	broad.mit.edu	37	2	171678617	171678617	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:171678617G>A	ENST00000358196.3	+	3	653	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.V35M|GAD1_ENST00000375272.1_Missense_Mutation_p.V35M	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	35					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTGGTGCGGCGTGGCCCATGG	0.627																																						uc002ugi.2		NaN																	0				ovary(1)	1						c.(103-105)GTG>ATG		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						45.0	39.0	41.0					2																	171678617		2203	4299	6502	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171678617G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.103G>A	2.37:g.171678617G>A	ENSP00000350928:p.Val35Met					GAD1_uc002ugh.2_Missense_Mutation_p.V35M	p.V35M	NM_000817	NP_000808	Q99259	DCE1_HUMAN			3	525	+			35					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.103G>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180495	0.94846	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;D;T;T;T;T;T	0.88431	-1.4;-2.38;2.12;0.22;0.22;-1.46;-1.44	4.97	4.97	0.65823	.	0.057726	0.64402	D	0.000001	D	0.90696	0.7081	M	0.68593	2.085	0.50467	D	0.999873	P;D	0.57571	0.936;0.98	P;P	0.49752	0.621;0.607	D	0.92004	0.5613	10	0.87932	D	0	-10.6582	16.5808	0.84714	0.0:0.0:1.0:0.0	.	35;35	Q99259;Q99259-3	DCE1_HUMAN;.	M	35	ENSP00000402366:V35M;ENSP00000394948:V35M;ENSP00000350928:V35M;ENSP00000364421:V35M;ENSP00000341167:V35M;ENSP00000405917:V35M;ENSP00000394255:V35M	ENSP00000341167:V35M	V	+	1	0	GAD1	171386863	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.758000	0.91663	2.586000	0.87340	0.561000	0.74099	GTG		0.627	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2				4	12	0	0	0	0.009096	0	4	12		
PLEKHA3	65977	broad.mit.edu	37	2	179368594	179368594	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:179368594C>T	ENST00000234453.5	+	8	1285	c.883C>T	c.(883-885)Ctt>Ttt	p.L295F		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	295						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AGAAGATACTCTTCCATCCTT	0.368																																						uc002umn.2		NaN																	0				ovary(1)|kidney(1)	2						c.(883-885)CTT>TTT		pleckstrin homology domain containing, family A							74.0	75.0	75.0					2																	179368594		2202	4300	6502	SO:0001583	missense	65977					cytoplasm|membrane		g.chr2:179368594C>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.883C>T	2.37:g.179368594C>T	ENSP00000234453:p.Leu295Phe						p.L295F	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		8	1281	+			295					Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	c.883C>T	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423952	0.43020	.	.	ENSG00000116095	ENST00000234453	T	0.14516	2.5	5.7	4.82	0.62117	.	0.385957	0.27275	N	0.020118	T	0.06962	0.0177	N	0.08118	0	0.38362	D	0.944645	B	0.06786	0.001	B	0.06405	0.002	T	0.26710	-1.0095	10	0.09843	T	0.71	-18.5296	14.0965	0.65027	0.0:0.9279:0.0:0.0721	.	295	Q9HB20	PKHA3_HUMAN	F	295	ENSP00000234453:L295F	ENSP00000234453:L295F	L	+	1	0	PLEKHA3	179076840	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.194000	0.32174	2.692000	0.91855	0.655000	0.94253	CTT		0.368	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2		NM_019091		9	63	0	0	0	0.004482	0	9	63		
TTN	7273	broad.mit.edu	37	2	179421813	179421813	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:179421813C>A	ENST00000591111.1	-	280	83369	c.83145G>T	c.(83143-83145)tgG>tgT	p.W27715C	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26788C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W20291C|TTN_ENST00000342175.6_Missense_Mutation_p.W20483C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W20416C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W29356C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27715	Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTGGTTGTTGCCATGAAAGGC	0.443																																						uc010zfg.1		NaN																	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.(80362-80364)TGG>TGT		titin isoform N2-A							69.0	65.0	66.0					2																	179421813		1913	4129	6042	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179421813C>A	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.83145G>T	2.37:g.179421813C>A	ENSP00000465570:p.Trp27715Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W20483C|TTN_uc010zfi.1_Missense_Mutation_p.W20416C|TTN_uc010zfj.1_Missense_Mutation_p.W20291C	p.W26788C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		279	80588	-			27715					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80364G>T		.	.	.	.	.	.	.	.	.	.	C	16.27	3.074866	0.55646	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.81	5.81	0.92471	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.98052	0.9358	H	0.99914	4.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.99157	1.0860	9	0.87932	D	0	.	18.6177	0.91308	0.0:1.0:0.0:0.0	.	20291;20416;20483;27715	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	26788;20291;20483;20416;20288	ENSP00000343764:W26788C;ENSP00000434586:W20291C;ENSP00000340554:W20483C;ENSP00000352154:W20416C	ENSP00000340554:W20483C	W	-	3	0	TTN	179130059	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.506000	0.81665	2.906000	0.99361	0.655000	0.94253	TGG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		15	17	1	0	1.5739e-10	0.004007	1.67292e-10	15	17		
TTN	7273	broad.mit.edu	37	2	179641476	179641476	+	Missense_Mutation	SNP	G	G	C	rs375828531		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:179641476G>C	ENST00000591111.1	-	28	5339	c.5115C>G	c.(5113-5115)ttC>ttG	p.F1705L	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F1705L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F1659L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F1659L|TTN_ENST00000359218.5_Missense_Mutation_p.F1659L|TTN_ENST00000589042.1_Missense_Mutation_p.F1705L|TTN_ENST00000360870.5_Missense_Mutation_p.F1705L			Q8WZ42	TITIN_HUMAN	titin	12534	Ig-like 8.				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)			GTTTTTTCTTGAAAAATGGTT	0.483																																						uc010zfg.1		NaN																	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.(5113-5115)TTC>TTG		titin isoform N2-A		G	LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	90.0	82.0	85.0		4977,5115,5115,4977,4977	0.4	1.0	2		85	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	22,22,22,22,22	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1659/26927,1705/33424,1705/5605,1659/27052,1659/27119	179641476	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641476G>C	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.5115C>G	2.37:g.179641476G>C	ENSP00000465570:p.Phe1705Leu					TTN_uc010zfh.1_Missense_Mutation_p.F1659L|TTN_uc010zfi.1_Missense_Mutation_p.F1659L|TTN_uc010zfj.1_Missense_Mutation_p.F1659L|TTN_uc002unb.2_Missense_Mutation_p.F1705L|uc002unc.1_5'Flank	p.F1705L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5339	-			1705					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5115C>G		.	.	.	.	.	.	.	.	.	.	G	8.179	0.793367	0.16327	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.34	0.436	0.16549	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85461	0.5702	M	0.92122	3.275	0.24529	N	0.994127	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.85130	0.992;0.992;0.992;0.992;0.997	T	0.74194	-0.3744	9	0.87932	D	0	.	9.5912	0.39548	0.5017:0.0:0.4983:0.0	.	1659;1659;1659;1705;1705	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1705;1659;1659;1659;1659;1705	ENSP00000343764:F1705L;ENSP00000434586:F1659L;ENSP00000340554:F1659L;ENSP00000352154:F1659L;ENSP00000354117:F1705L	ENSP00000340554:F1659L	F	-	3	2	TTN	179349721	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.753000	0.38359	0.269000	0.21961	-0.150000	0.13652	TTC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		8	57	0	0	0	0.00308	0	8	57		
ZNF804A	91752	broad.mit.edu	37	2	185803228	185803228	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:185803228G>A	ENST00000302277.6	+	4	3699	c.3105G>A	c.(3103-3105)ttG>ttA	p.L1035L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1035							metal ion binding (GO:0046872)	p.L1035F(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGCATTATTGATCCCACTAG	0.413																																						uc002uph.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3103-3105)TTG>TTA		zinc finger protein 804A							73.0	71.0	71.0					2																	185803228		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803228G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3105G>A	2.37:g.185803228G>A							p.L1035L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3699	+			1035					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3105G>A	CCDS2291.1																																																																																				0.413	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1		NM_194250		40	65	0	0	0	0.004878	0	40	65		
WDR75	84128	broad.mit.edu	37	2	190338996	190338996	+	Missense_Mutation	SNP	G	G	A	rs116046757	byFrequency	TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:190338996G>A	ENST00000314761.4	+	19	2194	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	712						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAACTAAACGAAACTTTAGA	0.363													G|||	7	0.00139776	0.0038	0.0014	5008	,	,		18754	0.0		0.001	False		,,,				2504	0.0					uc002uql.1		NaN																	0				ovary(2)	2						c.(2134-2136)GAA>AAA		WD repeat domain 75		G	LYS/GLU	12,4394	19.1+/-41.9	0,12,2191	124.0	123.0	123.0		2134	5.1	0.0	2	dbSNP_132	123	0,8600		0,0,4300	yes	missense	WDR75	NM_032168.1	56	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	benign	712/831	190338996	12,12994	2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190338996G>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2134G>A	2.37:g.190338996G>A	ENSP00000314193:p.Glu712Lys					WDR75_uc002uqm.1_Missense_Mutation_p.E648K|WDR75_uc002uqn.1_Missense_Mutation_p.E490K|WDR75_uc002uqo.1_Missense_Mutation_p.E490K	p.E712K	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		19	2194	+			712					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.2134G>A	CCDS2298.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	1.747	-0.490139	0.04322	0.002724	0.0	ENSG00000115368	ENST00000314761	T	0.61274	0.12	5.93	5.06	0.68205	.	0.762779	0.13382	N	0.392053	T	0.43255	0.1239	L	0.44542	1.39	0.09310	N	1	B;B	0.29341	0.242;0.242	B;B	0.15870	0.014;0.014	T	0.27806	-1.0063	10	0.09843	T	0.71	-4.3342	9.4256	0.38578	0.0737:0.0:0.7758:0.1505	.	712;712	A8K330;Q8IWA0	.;WDR75_HUMAN	K	712	ENSP00000314193:E712K	ENSP00000314193:E712K	E	+	1	0	WDR75	190047241	0.000000	0.05858	0.005000	0.12908	0.059000	0.15707	0.373000	0.20484	1.538000	0.49270	0.655000	0.94253	GAA		0.363	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1		NM_032168		10	133	0	0	0	0.006214	0	10	133		
MYO1B	4430	broad.mit.edu	37	2	192275892	192275892	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:192275892C>T	ENST00000392318.3	+	27	3114	c.2867C>T	c.(2866-2868)cCa>cTa	p.P956L	MYO1B_ENST00000304164.4_Missense_Mutation_p.P956L|MYO1B_ENST00000339514.4_Missense_Mutation_p.P898L|MYO1B_ENST00000439065.2_Missense_Mutation_p.P201L|MYO1B_ENST00000392316.1_Missense_Mutation_p.P927L	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	956	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.P956Q(1)|p.P898Q(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCTTTATACCCATCTAGGTAT	0.358																																						uc010fsg.2		NaN																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(2866-2868)CCA>CTA		myosin IB isoform 1							73.0	81.0	78.0					2																	192275892		2203	4299	6502	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192275892C>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2867C>T	2.37:g.192275892C>T	ENSP00000376132:p.Pro956Leu					MYO1B_uc002usq.2_Missense_Mutation_p.P898L|MYO1B_uc002usr.2_Missense_Mutation_p.P956L|MYO1B_uc002usu.2_Missense_Mutation_p.P201L|MYO1B_uc002usv.2_Missense_Mutation_p.P72L	p.P956L	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		27	3122	+			956					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2867C>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380785	0.82792	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.67	5.67	0.87782	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.65975	2.015	0.80722	D	1	D;B;B	0.89917	1.0;0.383;0.332	D;P;B	0.91635	0.999;0.464;0.275	T	0.59648	-0.7415	10	0.59425	D	0.04	.	18.3073	0.90187	0.0:1.0:0.0:0.0	.	201;956;898	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	L	898;956;956;927;201	ENSP00000341903:P898L;ENSP00000376132:P956L;ENSP00000306382:P956L;ENSP00000376130:P927L;ENSP00000391442:P201L	ENSP00000306382:P956L	P	+	2	0	MYO1B	191984137	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.280000	0.65603	2.834000	0.97654	0.650000	0.86243	CCA		0.358	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1		NM_012223		21	95	0	0	0	0.012319	0	21	95		
GTF3C3	9330	broad.mit.edu	37	2	197654765	197654765	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:197654765G>A	ENST00000263956.3	-	5	654	c.565C>T	c.(565-567)Cta>Tta	p.L189L	GTF3C3_ENST00000409364.3_Silent_p.L189L|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	189					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATCATGGCTAGAGTAGAGAAT	0.403																																						uc002uts.2		NaN																	0				ovary(3)|breast(3)|pancreas(1)	7						c.(565-567)CTA>TTA		general transcription factor IIIC, polypeptide							82.0	77.0	79.0					2																	197654765		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197654765G>A	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.565C>T	2.37:g.197654765G>A						GTF3C3_uc010zgu.1_Silent_p.L189L|GTF3C3_uc002utu.2_Silent_p.L189L	p.L189L	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			5	655	-			189			TPR 2.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.565C>T	CCDS2316.1																																																																																				0.403	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1				11	54	0	0	0	0.010729	0	11	54		
FN1	2335	broad.mit.edu	37	2	216272903	216272903	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:216272903C>T	ENST00000359671.1	-	17	2711	c.2446G>A	c.(2446-2448)Gac>Aac	p.D816N	FN1_ENST00000446046.1_Missense_Mutation_p.D816N|FN1_ENST00000336916.4_Missense_Mutation_p.D816N|FN1_ENST00000345488.5_Missense_Mutation_p.D816N|FN1_ENST00000421182.1_Missense_Mutation_p.D816N|FN1_ENST00000357867.4_Missense_Mutation_p.D816N|FN1_ENST00000432072.2_Missense_Mutation_p.D816N|FN1_ENST00000346544.3_Missense_Mutation_p.D816N|FN1_ENST00000354785.4_Missense_Mutation_p.D816N|FN1_ENST00000323926.6_Missense_Mutation_p.D816N|FN1_ENST00000356005.4_Missense_Mutation_p.D816N|FN1_ENST00000357009.2_Missense_Mutation_p.D816N|FN1_ENST00000443816.1_Missense_Mutation_p.D816N			P02751	FINC_HUMAN	fibronectin 1	816	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACAGTCGTGTCAGGAGGGGCA	0.502																																						uc002vfa.2		NaN																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(2446-2448)GAC>AAC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						72.0	76.0	74.0					2																	216272903		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216272903C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2446G>A	2.37:g.216272903C>T	ENSP00000352696:p.Asp816Asn					FN1_uc002vfb.2_Missense_Mutation_p.D816N|FN1_uc002vfc.2_Missense_Mutation_p.D816N|FN1_uc002vfd.2_Missense_Mutation_p.D816N|FN1_uc002vfe.2_Missense_Mutation_p.D816N|FN1_uc002vff.2_Missense_Mutation_p.D816N|FN1_uc002vfg.2_Missense_Mutation_p.D816N|FN1_uc002vfh.2_Missense_Mutation_p.D816N|FN1_uc002vfi.2_Missense_Mutation_p.D816N|FN1_uc002vfj.2_Missense_Mutation_p.D816N	p.D816N	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	17	2712	-		Renal(323;0.127)	816			Fibronectin type-III 3.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2446G>A		.	.	.	.	.	.	.	.	.	.	C	6.585	0.476206	0.12521	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.93	2.19	0.27852	.	0.416874	0.24150	N	0.041089	T	0.34048	0.0884	N	0.10664	0.02	0.49483	D	0.999797	B;B;P;B;B;B;B;B;B;B	0.52316	0.018;0.001;0.952;0.0;0.089;0.008;0.011;0.0;0.0;0.004	B;B;P;B;B;B;B;B;B;B	0.51582	0.03;0.011;0.674;0.002;0.107;0.026;0.044;0.002;0.002;0.009	T	0.04467	-1.0949	10	0.28530	T	0.3	.	10.4677	0.44618	0.0:0.7403:0.0:0.2597	.	816;816;816;816;816;816;816;816;816;816	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	N	816	ENSP00000394423:D816N;ENSP00000323534:D816N;ENSP00000338200:D816N;ENSP00000350534:D816N;ENSP00000346839:D816N;ENSP00000352696:D816N;ENSP00000265312:D816N;ENSP00000273049:D816N;ENSP00000349509:D816N;ENSP00000410422:D816N;ENSP00000415018:D816N;ENSP00000399538:D816N;ENSP00000348285:D816N	ENSP00000265313:D816N	D	-	1	0	FN1	215981148	0.024000	0.19004	0.837000	0.33122	0.083000	0.17756	0.460000	0.21924	0.130000	0.18549	0.655000	0.94253	GAC		0.502	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476		5	80	0	0	0	0.000602	0	5	80		
SPHKAP	80309	broad.mit.edu	37	2	228881142	228881142	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:228881142C>T	ENST00000392056.3	-	7	4474	c.4428G>A	c.(4426-4428)gtG>gtA	p.V1476V	SPHKAP_ENST00000344657.5_Silent_p.V1476V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1476						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACAAGCGCTCACGGCTGTGT	0.463																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(4426-4428)GTG>GTA		sphingosine kinase type 1-interacting protein							146.0	146.0	146.0					2																	228881142		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881142C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4428G>A	2.37:g.228881142C>T						SPHKAP_uc002vpp.2_Silent_p.V1476V|SPHKAP_uc010zlx.1_Silent_p.V1476V	p.V1476V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4475	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1476					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4428G>A	CCDS46537.1																																																																																				0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		23	107	0	0	0	0.00333	0	23	107		
SP100	6672	broad.mit.edu	37	2	231327168	231327168	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:231327168C>G	ENST00000264052.5	+	10	1347	c.992C>G	c.(991-993)tCt>tGt	p.S331C	SP100_ENST00000409824.1_Missense_Mutation_p.S306C|SP100_ENST00000340126.4_Missense_Mutation_p.S331C|SP100_ENST00000409897.1_Missense_Mutation_p.S296C|SP100_ENST00000341950.4_Missense_Mutation_p.S331C|SP100_ENST00000409341.1_Missense_Mutation_p.S331C|SP100_ENST00000427101.2_Missense_Mutation_p.S306C|SP100_ENST00000409112.1_Missense_Mutation_p.S331C	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	331					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTGAGGACTCTGAAGGATCC	0.502																																						uc002vqt.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(991-993)TCT>TGT		nuclear antigen Sp100 isoform 2							123.0	108.0	113.0					2																	231327168		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231327168C>G	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.992C>G	2.37:g.231327168C>G	ENSP00000264052:p.Ser331Cys					SP100_uc002vqs.2_Missense_Mutation_p.S331C|SP100_uc002vqu.1_Missense_Mutation_p.S331C|SP100_uc010zmb.1_Missense_Mutation_p.S331C|SP100_uc002vqq.1_Missense_Mutation_p.S331C|SP100_uc002vqr.1_Missense_Mutation_p.S306C|SP100_uc010zmc.1_Missense_Mutation_p.S306C|SP100_uc002vqv.1_Missense_Mutation_p.S295C	p.S331C	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	10	1133	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	331					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.992C>G	CCDS2477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.71|11.71	1.721224|1.721224	0.30503|0.30503	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000413284|ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	.|T;T;T;T;D;T;T;T	.|0.82255	.|2.05;1.95;1.95;1.94;-1.59;-0.02;1.8;1.95	3.85|3.85	3.85|3.85	0.44370|0.44370	.|.	.|.	.|.	.|.	.|.	D|D	0.84871|0.84871	0.5568|0.5568	L|L	0.29908|0.29908	0.895|0.895	0.20764|0.20764	N|N	0.999855|0.999855	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.81914	.|0.995;0.982;0.988;0.992;0.98;0.988;0.988;0.995	T|T	0.74328|0.74328	-0.3701|-0.3701	5|9	.|0.46703	.|T	.|0.11	.|.	11.5876|11.5876	0.50927|0.50927	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|306;331;296;331;331;331;306;331	.|F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.|.;.;.;.;SP100_HUMAN;.;.;.	V|C	7|331;306;306;331;331;331;331;296	.|ENSP00000264052:S331C;ENSP00000399389:S306C;ENSP00000387311:S306C;ENSP00000386404:S331C;ENSP00000386427:S331C;ENSP00000343023:S331C;ENSP00000342729:S331C;ENSP00000386998:S296C	.|ENSP00000264052:S331C	L|S	+|+	1|2	2|0	SP100|SP100	231035412|231035412	0.335000|0.335000	0.24748|0.24748	0.697000|0.697000	0.30258|0.30258	0.059000|0.059000	0.15707|0.15707	0.920000|0.920000	0.28705|0.28705	2.449000|2.449000	0.82847|0.82847	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.502	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2		NM_003113		21	23	0	0	0	0.00278	0	21	23		
MAVS	57506	broad.mit.edu	37	20	3838392	3838392	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3838392G>A	ENST00000428216.2	+	3	356	c.228G>A	c.(226-228)ctG>ctA	p.L76L	MAVS_ENST00000358134.6_Silent_p.L76L|MAVS_ENST00000416600.2_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	76	CARD.|Required for interaction with NLRX1.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TTGCGGCACTGAGGGGCTGTG	0.637																																						uc002wjw.3		NaN																	0					0						c.(226-228)CTG>CTA		virus-induced signaling adapter							136.0	110.0	119.0					20																	3838392		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3838392G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.228G>A	20.37:g.3838392G>A						MAVS_uc002wjv.2_Silent_p.L76L|MAVS_uc010zqn.1_Silent_p.L76L|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	p.L76L	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			3	397	+			76			Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.228G>A	CCDS33437.1																																																																																				0.637	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3		NM_020746		13	112	0	0	0	0.013537	0	13	112		
MAVS	57506	broad.mit.edu	37	20	3838402	3838402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3838402G>A	ENST00000428216.2	+	3	366	c.238G>A	c.(238-240)Gag>Aag	p.E80K	MAVS_ENST00000358134.6_Missense_Mutation_p.E80K|MAVS_ENST00000416600.2_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	80					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAGGGGCTGTGAGCTAGTTGA	0.632																																						uc002wjw.3		NaN																	0					0						c.(238-240)GAG>AAG		virus-induced signaling adapter							141.0	112.0	122.0					20																	3838402		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3838402G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.238G>A	20.37:g.3838402G>A	ENSP00000401980:p.Glu80Lys					MAVS_uc002wjv.2_Missense_Mutation_p.E80K|MAVS_uc010zqn.1_Missense_Mutation_p.E80K|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	p.E80K	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			3	407	+			80			Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.238G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513571	0.44763	.	.	ENSG00000088888	ENST00000428216;ENST00000358134	T;T	0.11821	2.74;2.74	4.67	4.67	0.58626	.	0.157019	0.41605	D	0.000851	T	0.32406	0.0828	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.974;0.998;0.998	T	0.01879	-1.1255	10	0.66056	D	0.02	-26.9086	12.9462	0.58373	0.0:0.0:1.0:0.0	.	80;80;80	B2BD34;Q7Z434;Q7Z434-2	.;MAVS_HUMAN;.	K	80	ENSP00000401980:E80K;ENSP00000350852:E80K	ENSP00000350852:E80K	E	+	1	0	MAVS	3786402	1.000000	0.71417	0.996000	0.52242	0.067000	0.16453	4.206000	0.58473	2.407000	0.81776	0.609000	0.83330	GAG		0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3		NM_020746		13	109	0	0	0	0.001855	0	13	109		
MAVS	57506	broad.mit.edu	37	20	3842053	3842053	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3842053G>A	ENST00000428216.2	+	4	495	c.367G>A	c.(367-369)Gct>Act	p.A123T	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_De_novo_Start_OutOfFrame	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	123	Pro-rich.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCACACCTGCTGCGGCCCA	0.627																																						uc002wjw.3		NaN																	0					0						c.(367-369)GCT>ACT		virus-induced signaling adapter							73.0	73.0	73.0					20																	3842053		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3842053G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.367G>A	20.37:g.3842053G>A	ENSP00000401980:p.Ala123Thr					MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_Intron	p.A123T	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			4	536	+			123			Pro-rich.|Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.367G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729710	0.48833	.	.	ENSG00000088888	ENST00000428216	T	0.12255	2.7	4.31	1.25	0.21368	.	1.485140	0.04221	N	0.333523	T	0.26340	0.0643	L	0.52573	1.65	0.09310	N	0.999998	D	0.71674	0.998	D	0.66979	0.948	T	0.12915	-1.0529	10	0.27785	T	0.31	-0.9486	3.7292	0.08487	0.2074:0.0:0.5992:0.1934	.	123	Q7Z434	MAVS_HUMAN	T	123	ENSP00000401980:A123T	ENSP00000401980:A123T	A	+	1	0	MAVS	3790053	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.277000	0.18734	0.198000	0.20407	-0.218000	0.12543	GCT		0.627	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3		NM_020746		12	100	0	0	0	0.013537	0	12	100		
MAVS	57506	broad.mit.edu	37	20	3842137	3842137	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3842137G>C	ENST00000428216.2	+	4	579	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_Missense_Mutation_p.E10Q	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	151	Pro-rich.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCAGGCGCCAGAGTCCCCAGG	0.592																																						uc002wjw.3		NaN																	0					0						c.(451-453)GAG>CAG		virus-induced signaling adapter							58.0	63.0	61.0					20																	3842137		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3842137G>C	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.451G>C	20.37:g.3842137G>C	ENSP00000401980:p.Glu151Gln					MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_Missense_Mutation_p.E10Q|MAVS_uc002wjy.3_Intron	p.E151Q	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			4	620	+			151			Pro-rich.|Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.451G>C	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303789	0.23736	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.35973	1.28;2.32	4.49	-2.18	0.07037	.	1.417660	0.04606	N	0.399355	T	0.31702	0.0805	L	0.43923	1.385	0.09310	N	1	B	0.25609	0.13	B	0.31812	0.136	T	0.40440	-0.9563	10	0.52906	T	0.07	-1.3109	5.5665	0.17173	0.24:0.1573:0.6027:0.0	.	151	Q7Z434	MAVS_HUMAN	Q	10;151	ENSP00000413749:E10Q;ENSP00000401980:E151Q	ENSP00000413749:E10Q	E	+	1	0	MAVS	3790137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.056000	0.11787	-0.490000	0.06707	-0.229000	0.12294	GAG		0.592	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3		NM_020746		6	65	0	0	0	0.001984	0	6	65		
PANK2	80025	broad.mit.edu	37	20	3869936	3869936	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3869936G>A	ENST00000316562.4	+	1	195	c.189G>A	c.(187-189)ccG>ccA	p.P63P	PANK2_ENST00000497424.1_Intron|RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_5'Flank	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	63					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTAGGGAGCCGACTGGACGCG	0.692																																						uc002wkc.2		NaN																	0					0						c.(187-189)CCG>CCA		pantothenate kinase 2 isoform 1 preproprotein							31.0	24.0	26.0					20																	3869936		2203	4300	6503	SO:0001819	synonymous_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3869936G>A	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.189G>A	20.37:g.3869936G>A						uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	p.P63P	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN			1	195	+			63					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	c.189G>A	CCDS13071.2																																																																																				0.692	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2		NM_024960		3	5	0	0	0	0.004672	0	3	5		
PLCB4	5332	broad.mit.edu	37	20	9459591	9459591	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:9459591G>A	ENST00000378493.1	+	35	3498	c.3483G>A	c.(3481-3483)gtG>gtA	p.V1161V	PLCB4_ENST00000334005.3_Missense_Mutation_p.E1174K|PLCB4_ENST00000414679.2_Silent_p.V1173V|PLCB4_ENST00000378473.3_Silent_p.V1173V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.V1161V|PLCB4_ENST00000378501.2_Missense_Mutation_p.E1174K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1161					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCAGATGGTGAAATTGGAAG	0.458																																						uc002wnf.2		NaN																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(3481-3483)GTG>GTA		phospholipase C beta 4 isoform b							162.0	134.0	143.0					20																	9459591		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9459591G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3483G>A	20.37:g.9459591G>A						PLCB4_uc010gbx.2_Silent_p.V1173V|PLCB4_uc002wne.2_Missense_Mutation_p.E1174K|PLCB4_uc002wnh.2_Silent_p.V1008V	p.V1161V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			37	3619	+			1161					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.3483G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289638	0.59976	.	.	ENSG00000101333	ENST00000334005;ENST00000378501	T;T	0.18174	2.23;2.23	5.58	5.58	0.84498	.	0.199524	0.41194	D	0.000938	T	0.40886	0.1135	.	.	.	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.02603	-1.1135	9	0.27785	T	0.31	.	19.5796	0.95461	0.0:0.0:1.0:0.0	.	1174	Q15147-4	.	K	1174	ENSP00000334105:E1174K;ENSP00000367762:E1174K	ENSP00000334105:E1174K	E	+	1	0	PLCB4	9407591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.272000	0.89885	2.624000	0.88883	0.655000	0.94253	GAA		0.458	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2				8	36	0	0	0	0.00308	0	8	36		
SNAP25	6616	broad.mit.edu	37	20	10279959	10279959	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:10279959G>C	ENST00000254976.2	+	7	662	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	SNAP25_ENST00000304886.2_Missense_Mutation_p.E151Q|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	151	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TGAAAACCTAGAGCAGGTGAG	0.468																																						uc002wnq.1		NaN																	0				skin(2)	2						c.(451-453)GAG>CAG		synaptosomal-associated protein 25 isoform	Botulinum Toxin Type A(DB00083)						152.0	151.0	152.0					20																	10279959		2203	4300	6503	SO:0001583	missense	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10279959G>C		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.451G>C	20.37:g.10279959G>C	ENSP00000254976:p.Glu151Gln					SNAP25_uc002wnr.1_Missense_Mutation_p.E151Q|SNAP25_uc002wns.1_Missense_Mutation_p.E88Q|SNAP25_uc010gca.1_Missense_Mutation_p.E151Q|SNAP25_uc010gcb.1_Missense_Mutation_p.E88Q|SNAP25_uc010gcc.1_Missense_Mutation_p.E45Q	p.E151Q	NM_130811	NP_570824	P60880	SNP25_HUMAN			7	663	+			151			t-SNARE coiled-coil homology 2.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.451G>C	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339272	0.41398	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	6.17	6.17	0.99709	Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	N	0.04959	-0.14	0.80722	D	1	P;P	0.43938	0.787;0.822	B;B	0.39590	0.29;0.304	T	0.24764	-1.0151	9	0.32370	T	0.25	-5.357	20.8794	0.99867	0.0:0.0:1.0:0.0	.	151;151	P60880-2;P60880	.;SNP25_HUMAN	Q	151	.	ENSP00000254976:E151Q	E	+	1	0	SNAP25	10227959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG		0.468	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3		NM_130811		51	167	0	0	0	0.01441	0	51	167		
TASP1	55617	broad.mit.edu	37	20	13514765	13514765	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:13514765G>A	ENST00000337743.4	-	9	819	c.699C>T	c.(697-699)gaC>gaT	p.D233D	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	233					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CGCCTACCGTGTCCAAAGTGC	0.512																																						uc002woi.2		NaN																	0					0						c.(697-699)GAC>GAT		taspase 1 precursor							166.0	141.0	149.0					20																	13514765		2203	4300	6503	SO:0001819	synonymous_variant	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13514765G>A	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.699C>T	20.37:g.13514765G>A						TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Silent_p.D210D|TASP1_uc010zrj.1_RNA	p.D233D	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			9	816	-			233	D->A: 0.1% enzymatic activity; no intramolecular processing.				B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Silent	SNP	ENST00000337743.4	37	c.699C>T	CCDS13116.1																																																																																				0.512	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2		NM_017714		35	109	0	0	0	0.003755	0	35	109		
ZNF133	7692	broad.mit.edu	37	20	18297183	18297183	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:18297183C>G	ENST00000316358.4	+	4	1785	c.1688C>G	c.(1687-1689)tCa>tGa	p.S563*	ZNF133_ENST00000402618.2_Nonsense_Mutation_p.S500*|ZNF133_ENST00000396026.3_Nonsense_Mutation_p.S566*|ZNF133_ENST00000535822.1_Nonsense_Mutation_p.S468*|ZNF133_ENST00000538547.1_Nonsense_Mutation_p.S468*|ZNF133_ENST00000462170.1_3'UTR|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000377671.3_Nonsense_Mutation_p.S562*|ZNF133_ENST00000401790.1_Nonsense_Mutation_p.S563*	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	563					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGCAATAAGTCAGCTCTAATT	0.542																																						uc010gcq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1687-1689)TCA>TGA		zinc finger protein 133							101.0	84.0	90.0					20																	18297183		2203	4300	6503	SO:0001587	stop_gained	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297183C>G	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1688C>G	20.37:g.18297183C>G	ENSP00000346090:p.Ser563*					ZNF133_uc010zrv.1_Nonsense_Mutation_p.S566*|ZNF133_uc010zrw.1_Nonsense_Mutation_p.S500*|ZNF133_uc010gcr.2_Nonsense_Mutation_p.S563*|ZNF133_uc010zrx.1_Nonsense_Mutation_p.S468*|ZNF133_uc002wql.3_Nonsense_Mutation_p.S562*|ZNF133_uc010gcs.2_Nonsense_Mutation_p.S562*|ZNF133_uc010zry.1_Nonsense_Mutation_p.S468*|ZNF133_uc002wqm.2_Nonsense_Mutation_p.S563*	p.S563*	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	1993	+			563			C2H2-type 13.		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Nonsense_Mutation	SNP	ENST00000316358.4	37	c.1688C>G		.	.	.	.	.	.	.	.	.	.	C	18.33	3.600325	0.66332	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	.	.	.	4.23	4.23	0.50019	.	0.000000	0.36444	N	0.002595	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-10.3928	14.9251	0.70871	0.0:1.0:0.0:0.0	.	.	.	.	X	562;566;500;563;468;468;563	.	ENSP00000346090:S563X	S	+	2	0	ZNF133	18245183	0.029000	0.19370	0.140000	0.22221	0.171000	0.22731	3.050000	0.49877	2.651000	0.90000	0.655000	0.94253	TCA		0.542	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1		NM_003434		23	51	0	0	0	0.00278	0	23	51		
MYLK2	85366	broad.mit.edu	37	20	30409372	30409372	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:30409372G>A	ENST00000375994.2	+	3	877	c.604G>A	c.(604-606)Gag>Aag	p.E202K	MYLK2_ENST00000375985.4_Missense_Mutation_p.E202K			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	202					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCCTGGCAGAGAGCCAGAA	0.597																																						uc002wwq.2		NaN																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(604-606)GAG>AAG		skeletal myosin light chain kinase							73.0	77.0	76.0					20																	30409372		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409372G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.604G>A	20.37:g.30409372G>A	ENSP00000365162:p.Glu202Lys						p.E202K	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	706	+			202					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.604G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320008	0.41096	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67171	-0.25;-0.25	4.67	4.67	0.58626	.	.	.	.	.	T	0.56863	0.2014	L	0.44542	1.39	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.37126	-0.9719	9	0.14252	T	0.57	.	13.2484	0.60036	0.0:0.0:1.0:0.0	.	202	Q9H1R3	MYLK2_HUMAN	K	202	ENSP00000365162:E202K;ENSP00000365152:E202K	ENSP00000365152:E202K	E	+	1	0	MYLK2	29873033	0.934000	0.31675	0.066000	0.19879	0.842000	0.47809	1.919000	0.40015	2.586000	0.87340	0.561000	0.74099	GAG		0.597	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2		NM_033118		26	63	0	0	0	0.00333	0	26	63		
TGM2	7052	broad.mit.edu	37	20	36793594	36793594	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:36793594C>T	ENST00000361475.2	-	1	180	c.7G>A	c.(7-9)Gag>Aag	p.E3K	TGM2_ENST00000536724.1_Missense_Mutation_p.E3K|TGM2_ENST00000536701.1_Missense_Mutation_p.E3K	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	3					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TACTCACCCTCGGCCATGGTC	0.687																																						uc002xhr.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(7-9)GAG>AAG		transglutaminase 2 isoform a	L-Glutamine(DB00130)						17.0	20.0	19.0					20																	36793594		2200	4290	6490	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36793594C>T	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.7G>A	20.37:g.36793594C>T	ENSP00000355330:p.Glu3Lys					TGM2_uc010zvx.1_Missense_Mutation_p.E3K|TGM2_uc010zvy.1_Missense_Mutation_p.E3K|TGM2_uc002xhs.1_Missense_Mutation_p.E3K|TGM2_uc002xht.2_Missense_Mutation_p.E3K|TGM2_uc002xhu.3_Missense_Mutation_p.E3K	p.E3K	NM_004613	NP_004604	P21980	TGM2_HUMAN			1	107	-		Myeloproliferative disorder(115;0.00878)	3					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.7G>A	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980341	0.34942	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403;ENST00000453095	D;D;T;D;D	0.86366	-2.11;-2.11;-1.01;-2.11;-2.11	3.88	2.92	0.33932	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.541720	0.03947	N	0.287951	D	0.82935	0.5145	L	0.58810	1.83	0.24765	N	0.992902	P;P;B;B;B	0.38020	0.615;0.48;0.059;0.013;0.007	B;B;B;B;B	0.28991	0.097;0.045;0.005;0.006;0.002	T	0.67703	-0.5602	10	0.18710	T	0.47	.	9.5825	0.39497	0.0:0.7861:0.2139:0.0	.	3;3;3;3;3	F5H6P0;B4DIT7;P21980-3;P21980-2;P21980	.;.;.;.;TGM2_HUMAN	K	3	ENSP00000355330:E3K;ENSP00000444701:E3K;ENSP00000437479:E3K;ENSP00000362502:E3K;ENSP00000387642:E3K	ENSP00000355330:E3K	E	-	1	0	TGM2	36227008	0.675000	0.27558	0.988000	0.46212	0.074000	0.17049	0.103000	0.15292	1.200000	0.43188	0.561000	0.74099	GAG		0.687	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2		NM_198951		18	24	0	0	0	0.010504	0	18	24		
L3MBTL1	26013	broad.mit.edu	37	20	42144735	42144735	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:42144735G>C	ENST00000427442.2	+	7	873	c.714G>C	c.(712-714)gaG>gaC	p.E238D	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E238D|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E170D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E170D|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.E170D			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	170					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCTACAGGAGAAGCAAGAAG	0.577																																						uc010zwh.1		NaN																	0					0						c.(712-714)GAG>GAC		l(3)mbt-like isoform I							71.0	62.0	65.0					20																	42144735		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42144735G>C	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.714G>C	20.37:g.42144735G>C	ENSP00000402107:p.Glu238Asp					L3MBTL_uc010ggk.1_Missense_Mutation_p.E170D|L3MBTL_uc002xkl.2_Missense_Mutation_p.E170D|L3MBTL_uc002xkm.2_Missense_Mutation_p.E170D|L3MBTL_uc010ggl.2_Missense_Mutation_p.E170D	p.E238D	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	760	+		Myeloproliferative disorder(115;0.00452)	170					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.714G>C	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521149	0.44866	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134	T;T;T;T;T	0.20200	2.09;2.09;2.12;2.12;2.14	5.38	5.38	0.77491	.	0.532652	0.18317	N	0.144940	T	0.18923	0.0454	L	0.42245	1.32	0.22199	N	0.999295	B;P;P;P	0.37781	0.019;0.608;0.493;0.493	B;B;B;B	0.37047	0.005;0.24;0.167;0.167	T	0.15867	-1.0422	10	0.41790	T	0.15	.	10.1786	0.42955	0.0905:0.0:0.9095:0.0	.	238;170;170;170	Q9Y468-5;Q9Y468;Q9Y468-2;Q9Y468-1	.;LMBL1_HUMAN;.;.	D	238;238;170;170;170	ENSP00000402107:E238D;ENSP00000398516:E238D;ENSP00000362227:E170D;ENSP00000403316:E170D;ENSP00000362226:E170D	ENSP00000362226:E170D	E	+	3	2	L3MBTL1	41578149	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.010000	0.40913	2.530000	0.85305	0.655000	0.94253	GAG		0.577	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3		NM_032107		6	33	0	0	0	0.001984	0	6	33		
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xoz.2		NaN																	0					0						c.(79-81)AAG>ATG		WAP four-disulfide core domain 10A precursor							164.0	128.0	140.0					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"""WAP four-disulfide core domain containing"""	16139	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 146"""	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met		OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_uc002xoy.2_Intron	p.K27M	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN			1	148	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2				4	40	0	0	0	0.001168	0	4	40		
SLC2A10	81031	broad.mit.edu	37	20	45354112	45354112	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:45354112G>A	ENST00000359271.2	+	2	687	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	146					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ATCACCGTGGGCATCCTGCTC	0.622																																						uc002xsl.2		NaN																	0				ovary(1)	1						c.(436-438)GGC>GAC		solute carrier family 2 member 10							110.0	95.0	100.0					20																	45354112		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354112G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.437G>A	20.37:g.45354112G>A	ENSP00000352216:p.Gly146Asp						p.G146D	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	534	+		Myeloproliferative disorder(115;0.0122)	146			Helical; Name=5; (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.437G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809100	0.70797	.	.	ENSG00000197496	ENST00000359271	D	0.90788	-2.73	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99376	1.0921	10	0.87932	D	0	.	18.9831	0.92762	0.0:0.0:1.0:0.0	.	146	O95528	GTR10_HUMAN	D	146	ENSP00000352216:G146D	ENSP00000352216:G146D	G	+	2	0	SLC2A10	44787519	1.000000	0.71417	0.969000	0.41365	0.314000	0.28054	9.852000	0.99516	2.494000	0.84150	0.407000	0.27541	GGC		0.622	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2				20	99	0	0	0	0.010504	0	20	99		
DPM1	8813	broad.mit.edu	37	20	49576560	49576560	+	5'Flank	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:49576560G>A	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Nonsense_Mutation_p.W394*|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GAAGCAATCTGGGAAGAGAAG	0.498																																						uc002xvy.1		NaN																	0				skin(2)|ovary(1)	3						c.(1180-1182)TGG>TAG		molybdenum cofactor synthesis 3							141.0	143.0	142.0					20																	49576560		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576560G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576560G>A	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.W394*	NM_014484	NP_055299	O95396	MOCS3_HUMAN			1	1198	+			394			Rhodanese.		O15157|Q6IB78|Q96HK0	Nonsense_Mutation	SNP	ENST00000371588.5	37	c.1181G>A	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517098	0.27123	.	.	ENSG00000124217	ENST00000244051	.	.	.	4.8	1.52	0.23074	.	0.993829	0.08173	N	0.986757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.2604	2.1413	0.03776	0.2509:0.1298:0.4867:0.1325	.	.	.	.	X	394	.	.	W	+	2	0	MOCS3	49009967	0.491000	0.26019	0.062000	0.19696	0.083000	0.17756	0.339000	0.19875	0.152000	0.19188	0.591000	0.81541	TGG		0.498	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1		NM_003859		91	135	0	0	0	0.01441	0	91	135		
GATA5	140628	broad.mit.edu	37	20	61040029	61040029	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:61040029C>A	ENST00000252997.2	-	7	1118	c.1057G>T	c.(1057-1059)Gac>Tac	p.D353Y		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	353					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCAAGAGAGTCATCCTCCTGG	0.672																																						uc002ycx.1		NaN																	0					0						c.(1057-1059)GAC>TAC		GATA binding protein 5							27.0	27.0	27.0					20																	61040029		2201	4300	6501	SO:0001583	missense	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61040029C>A	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.1057G>T	20.37:g.61040029C>A	ENSP00000252997:p.Asp353Tyr						p.D353Y	NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		7	1119	-	Breast(26;2.05e-08)		353					D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	c.1057G>T	CCDS13499.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.416966	0.25552	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.98362	-4.89	5.27	4.3	0.51218	.	0.403178	0.27043	N	0.021212	D	0.97841	0.9291	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.60789	0.879	D	0.93768	0.7072	10	0.16896	T	0.51	-1.3641	15.33	0.74200	0.0:0.8592:0.1408:0.0	.	353	Q9BWX5	GATA5_HUMAN	Y	353;373;353	ENSP00000252997:D353Y	ENSP00000252997:D353Y	D	-	1	0	GATA5	60473424	0.873000	0.30073	0.005000	0.12908	0.002000	0.02628	3.434000	0.52841	1.184000	0.42957	0.555000	0.69702	GAC		0.672	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2		NM_080473		14	24	1	0	6.72482e-11	0.003163	7.17166e-11	14	24		
HELZ2	85441	broad.mit.edu	37	20	62194088	62194088	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:62194088G>A	ENST00000467148.1	-	8	6156	c.6087C>T	c.(6085-6087)ctC>ctT	p.L2029L	HELZ2_ENST00000427522.2_Silent_p.L1460L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2029					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGCCAGGGCCGAGGCTGCTGG	0.697																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(6085-6087)CTC>CTT		PPAR-alpha interacting complex protein 285																																				SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62194088G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6087C>T	20.37:g.62194088G>A						PRIC285_uc002yfl.1_Silent_p.L1460L	p.L2029L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	6979	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2029					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6087C>T	CCDS33508.1																																																																																				0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		5	6	0	0	0	0.000602	0	5	6		
ATP5J	522	broad.mit.edu	37	21	27101968	27101968	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr21:27101968C>A	ENST00000400093.3	-	2	829	c.138G>T	c.(136-138)aaG>aaT	p.K46N	ATP5J_ENST00000400090.3_Missense_Mutation_p.K46N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K46N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K54N|ATP5J_ENST00000400099.1_Missense_Mutation_p.K46N|ATP5J_ENST00000284971.3_Missense_Mutation_p.K46N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K46N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	46					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						ATTCTCTAATCTTGTCCACAA	0.348																																					Colon(101;404 1513 9184 32221 46005)	uc002yls.2		NaN																	0					0						c.(136-138)AAG>AAT		ATP synthase, H+ transporting, mitochondrial F0							50.0	46.0	48.0					21																	27101968		2203	4300	6503	SO:0001583	missense	522				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr21:27101968C>A	M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	847	protein-coding gene	gene with protein product	"""coupling factor 6"""	603152	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"""	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.138G>T	21.37:g.27101968C>A	ENSP00000382965:p.Lys46Asn					ATP5J_uc002ylt.2_Missense_Mutation_p.K46N|ATP5J_uc002ylu.2_Missense_Mutation_p.K46N|ATP5J_uc002ylv.2_Missense_Mutation_p.K54N|ATP5J_uc002ylw.2_Missense_Mutation_p.K46N	p.K46N	NM_001685	NP_001676	P18859	ATP5J_HUMAN			2	811	-			46					J3KQ83	Missense_Mutation	SNP	ENST00000400093.3	37	c.138G>T	CCDS13574.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654932	0.67472	.	.	ENSG00000154723	ENST00000400099;ENST00000400094;ENST00000284971;ENST00000457143;ENST00000400090;ENST00000400087;ENST00000400093	.	.	.	4.98	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.84585	2.705	0.58432	D	0.999997	P;P	0.46784	0.884;0.884	P;P	0.45794	0.493;0.493	T	0.68957	-0.5272	9	0.62326	D	0.03	-0.4963	8.9012	0.35497	0.0:0.8279:0.0:0.172	.	46;46	Q6IB54;P18859	.;ATP5J_HUMAN	N	46;46;46;54;46;46;46	.	ENSP00000284971:K46N	K	-	3	2	ATP5J	26023839	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.307000	0.51888	1.468000	0.48064	0.655000	0.94253	AAG		0.348	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171357.1		NM_001685		4	25	1	0	0.00024832	0.009096	0.000253452	4	25		
SCAF4	57466	broad.mit.edu	37	21	33069036	33069036	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr21:33069036C>T	ENST00000286835.7	-	8	1187	c.805G>A	c.(805-807)Gat>Aat	p.D269N	SCAF4_ENST00000399804.1_Missense_Mutation_p.D269N|SCAF4_ENST00000434667.3_Missense_Mutation_p.D254N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	269						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCTGGCTCATCATCATAGTCA	0.423																																						uc002ypd.2		NaN																	0					0						c.(805-807)GAT>AAT		splicing factor, arginine/serine-rich 15 isoform							121.0	126.0	124.0					21																	33069036		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33069036C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.805G>A	21.37:g.33069036C>T	ENSP00000286835:p.Asp269Asn					SFRS15_uc002ype.2_Missense_Mutation_p.D269N|SFRS15_uc010glu.2_Missense_Mutation_p.D254N|SFRS15_uc002ypf.1_5'UTR	p.D269N	NM_020706	NP_065757	O95104	SFR15_HUMAN			8	1231	-			269					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.805G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025970	0.75390	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.58797	0.38;0.31;0.37	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	L	0.56769	1.78	0.58432	D	0.999994	P;P;P	0.45474	0.779;0.859;0.779	B;B;B	0.43155	0.232;0.41;0.232	T	0.56390	-0.7987	10	0.30854	T	0.27	-22.0472	20.5827	0.99408	0.0:1.0:0.0:0.0	.	254;269;269	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	N	254;269;269	ENSP00000402377:D254N;ENSP00000286835:D269N;ENSP00000382703:D269N	ENSP00000286835:D269N	D	-	1	0	SCAF4	31990907	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.603000	0.61105	2.941000	0.99782	0.655000	0.94253	GAT		0.423	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889		17	95	0	0	0	0.006122	0	17	95		
PAXBP1	94104	broad.mit.edu	37	21	34134491	34134491	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr21:34134491C>T	ENST00000331923.4	-	4	976	c.787G>A	c.(787-789)Gat>Aat	p.D263N	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.D263N	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	263					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTTCATCATCACTGGCATCA	0.403																																						uc002yqn.2		NaN																	0				ovary(2)	2						c.(787-789)GAT>AAT		GC-rich sequence DNA-binding factor candidate							128.0	127.0	127.0					21																	34134491		2203	4300	6503	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34134491C>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.787G>A	21.37:g.34134491C>T	ENSP00000328992:p.Asp263Asn					GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D263N|GCFC1_uc002yqr.2_Missense_Mutation_p.D263N	p.D263N	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			4	977	-			263					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.787G>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592394	0.96590	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.55588	0.9;0.51	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	M	0.79926	2.475	0.80722	D	1	D;P	0.89917	1.0;0.911	D;B	0.87578	0.998;0.402	T	0.77321	-0.2631	10	0.62326	D	0.03	-28.5614	19.567	0.95397	0.0:1.0:0.0:0.0	.	263;263	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	N	263	ENSP00000328992:D263N;ENSP00000290178:D263N	ENSP00000290178:D263N	D	-	1	0	GCFC1	33056362	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.487000	0.81328	2.718000	0.92993	0.650000	0.86243	GAT		0.403	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1		NM_013329		8	105	0	0	0	0.006214	0	8	105		
MX2	4600	broad.mit.edu	37	21	42762521	42762521	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr21:42762521G>A	ENST00000330714.3	+	6	946	c.762G>A	c.(760-762)caG>caA	p.Q254Q	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	254	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGTACATCCAGAGGCAGCAGA	0.557																																						uc002yzf.1		NaN																	0				ovary(2)	2						c.(760-762)CAG>CAA		myxovirus resistance protein 2							266.0	212.0	230.0					21																	42762521		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42762521G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.762G>A	21.37:g.42762521G>A						MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	p.Q254Q	NM_002463	NP_002454	P20592	MX2_HUMAN			6	866	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	254					B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.762G>A	CCDS13672.1																																																																																				0.557	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1		NM_002463		38	111	0	0	0	0.006999	0	38	111		
DGCR2	9993	broad.mit.edu	37	22	19044633	19044633	+	Missense_Mutation	SNP	G	G	A	rs552699906		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:19044633G>A	ENST00000263196.7	-	6	915	c.668C>T	c.(667-669)tCg>tTg	p.S223L	DGCR2_ENST00000537045.1_Missense_Mutation_p.S182L|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	223	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					AGACATGGCCGAGGCAAAGAT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20552	0.0		0.0	False		,,,				2504	0.001					uc002zoq.1		NaN																	0				large_intestine(1)	1						c.(667-669)TCG>TTG		integral membrane protein DGCR2 precursor							76.0	56.0	63.0					22																	19044633		2203	4299	6502	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19044633G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.668C>T	22.37:g.19044633G>A	ENSP00000263196:p.Ser223Leu					DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.S179L	p.S223L	NM_005137	NP_005128	P98153	IDD_HUMAN			6	916	-	Colorectal(54;0.0993)		223			Extracellular (Potential).|C-type lectin.		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.668C>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.706000	0.68615	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000447928	T;T	0.18338	2.22;2.22	5.56	5.56	0.83823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.352760	0.32736	N	0.005707	T	0.14570	0.0352	N	0.22421	0.69	0.80722	D	1	B;B	0.32071	0.355;0.152	B;B	0.27380	0.079;0.036	T	0.04400	-1.0954	10	0.66056	D	0.02	.	19.1403	0.93444	0.0:0.0:1.0:0.0	.	179;223	B7Z3T5;P98153	.;IDD_HUMAN	L	182;223;223	ENSP00000440062:S182L;ENSP00000263196:S223L	ENSP00000263196:S223L	S	-	2	0	DGCR2	17424633	0.977000	0.34250	0.845000	0.33349	0.963000	0.63663	5.101000	0.64566	2.622000	0.88805	0.655000	0.94253	TCG		0.592	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1		NM_005137		4	13	0	0	0	0.009096	0	4	13		
CDC45	8318	broad.mit.edu	37	22	19470241	19470241	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:19470241G>C	ENST00000407835.1	+	5	489	c.233G>C	c.(232-234)gGa>gCa	p.G78A	CDC45_ENST00000404724.3_Intron|CDC45_ENST00000263201.1_Missense_Mutation_p.G78A|CDC45_ENST00000437685.2_Missense_Mutation_p.G78A|CDC45_ENST00000483431.1_3'UTR			O75419	CDC45_HUMAN	cell division cycle 45	78					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATAAACTGTGGAGCTAATGTA	0.373																																						uc002zpr.2		NaN																	0				lung(1)	1						c.(232-234)GGA>GCA		CDC45-like							201.0	185.0	190.0					22																	19470241		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19470241G>C	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.233G>C	22.37:g.19470241G>C	ENSP00000385240:p.Gly78Ala					CDC45_uc011agz.1_Missense_Mutation_p.G73A|CDC45_uc011aha.1_Missense_Mutation_p.G78A|CDC45_uc002zps.2_Missense_Mutation_p.G78A|CDC45_uc002zpt.2_Intron	p.G78A	NM_003504	NP_003495	O75419	CDC45_HUMAN			4	309	+			78					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.233G>C	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796523	0.90453	.	.	ENSG00000093009	ENST00000407835;ENST00000438587;ENST00000455750;ENST00000437685;ENST00000263201	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.31	5.31	0.75309	.	0.050493	0.85682	D	0.000000	T	0.76751	0.4031	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.97110	1.0;0.979;1.0;1.0	T	0.79787	-0.1656	10	0.56958	D	0.05	-16.3063	18.9644	0.92689	0.0:0.0:1.0:0.0	.	78;73;78;78	E9PDH7;B4E092;B4DDU3;O75419	.;.;.;CDC45_HUMAN	A	78;66;78;78;78	ENSP00000385240:G78A;ENSP00000397434:G66A;ENSP00000413138:G78A;ENSP00000405726:G78A;ENSP00000263201:G78A	ENSP00000263201:G78A	G	+	2	0	CDC45	17850241	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.415000	0.97375	2.469000	0.83416	0.591000	0.81541	GGA		0.373	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1		NM_003504		8	132	0	0	0	0.004482	0	8	132		
ZNF280A	129025	broad.mit.edu	37	22	22869392	22869392	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:22869392G>A	ENST00000302097.3	-	2	815	c.563C>T	c.(562-564)cCa>cTa	p.P188L	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	188					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)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGGTACCCCTGGGATTCCATC	0.448																																						uc002zwe.2		NaN																	0				ovary(1)	1						c.(562-564)CCA>CTA		zinc finger protein 280A							108.0	101.0	104.0					22																	22869392		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869392G>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.563C>T	22.37:g.22869392G>A	ENSP00000302855:p.Pro188Leu					LOC96610_uc011aim.1_Intron	p.P188L	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	816	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	188						Missense_Mutation	SNP	ENST00000302097.3	37	c.563C>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	7.385	0.629550	0.14257	.	.	ENSG00000169548	ENST00000302097	T	0.23348	1.91	3.57	0.325	0.15903	.	.	.	.	.	T	0.17916	0.0430	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.23574	0.047	T	0.34825	-0.9813	9	0.20519	T	0.43	-0.1195	5.5071	0.16860	0.3723:0.0:0.6277:0.0	.	188	P59817	Z280A_HUMAN	L	188	ENSP00000302855:P188L	ENSP00000302855:P188L	P	-	2	0	ZNF280A	21199392	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.217000	0.17603	0.141000	0.18875	0.655000	0.94253	CCA		0.448	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3		NM_080740		13	141	0	0	0	0.00245	0	13	141		
SMARCB1	6598	broad.mit.edu	37	22	24129380	24129380	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:24129380G>C	ENST00000263121.7	+	1	220	c.24G>C	c.(22-24)aaG>aaC	p.K8N	SMARCB1_ENST00000407422.3_Missense_Mutation_p.K8N|SMARCB1_ENST00000407082.3_Missense_Mutation_p.K8N|SMARCB1_ENST00000344921.6_Missense_Mutation_p.K8N	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	8					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGCTGAGCAAGACCTTCGGGC	0.711			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																uc002zyb.2		NaN	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	D|N|F|S	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid 		2	Unknown(2)	p.?(2)	soft_tissue(2)	soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407						c.(22-24)AAG>AAC		SWI/SNF related, matrix associated, actin							43.0	49.0	47.0					22																	24129380		2202	4300	6502	SO:0001583	missense	6598	Rhabdoid_Predisposition_syndrome|Schwannomatosis			cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24129380G>C	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.24G>C	22.37:g.24129380G>C	ENSP00000263121:p.Lys8Asn					SMARCB1_uc002zyg.2_Missense_Mutation_p.K8N|SMARCB1_uc011ajb.1_Missense_Mutation_p.K8N|SMARCB1_uc002zya.2_Missense_Mutation_p.K8N|SMARCB1_uc002zyc.2_Missense_Mutation_p.K8N|SMARCB1_uc002zyd.2_Missense_Mutation_p.K8N	p.K8N	NM_003073	NP_003064	Q12824	SNF5_HUMAN			1	231	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	8					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.24G>C	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217440	0.79352	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	3.49	2.48	0.30137	.	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	L	0.55481	1.735	0.58432	D	0.999998	D;D;P;P;D;D	0.57899	0.974;0.98;0.954;0.956;0.975;0.981	P;P;P;P;P;D	0.67231	0.647;0.718;0.842;0.698;0.776;0.95	D	0.92741	0.6208	10	0.87932	D	0	-35.8003	6.8647	0.24086	0.3065:0.0:0.6935:0.0	.	8;8;8;8;8;8	B4E117;B4DRT1;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;SNF5_HUMAN;.	N	8	ENSP00000388489:K8N;ENSP00000340883:K8N;ENSP00000263121:K8N;ENSP00000383984:K8N;ENSP00000385226:K8N	ENSP00000263121:K8N	K	+	3	2	SMARCB1	22459380	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.726000	0.38085	1.050000	0.40346	0.478000	0.44815	AAG		0.711	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1		NM_003073		11	38	0	0	0	0.008291	0	11	38		
GGT5	2687	broad.mit.edu	37	22	24622208	24622208	+	Silent	SNP	C	C	T	rs375177073		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:24622208C>T	ENST00000327365.4	-	8	1481	c.1065G>A	c.(1063-1065)gaG>gaA	p.E355E	GGT5_ENST00000263112.7_Silent_p.E323E|GGT5_ENST00000398292.3_Silent_p.E355E|GGT5_ENST00000418439.2_Silent_p.E278E	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	355					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGCCAGGGTCTCCCCCAGCA	0.677																																						uc002zzo.3		NaN																	0				ovary(2)|skin(1)	3						c.(1063-1065)GAG>GAA		gamma-glutamyltransferase 5 isoform b							28.0	33.0	31.0					22																	24622208		2203	4299	6502	SO:0001819	synonymous_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622208C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1065G>A	22.37:g.24622208C>T						GGT5_uc002zzp.3_Silent_p.E355E|GGT5_uc002zzr.3_Silent_p.E323E|GGT5_uc002zzq.3_Silent_p.E323E|GGT5_uc011ajm.1_Silent_p.E278E|GGT5_uc011ajn.1_RNA	p.E355E	NM_004121	NP_004112	P36269	GGT5_HUMAN			8	1482	-			355			Extracellular (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	c.1065G>A	CCDS13825.1																																																																																				0.677	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1		NM_004121		6	27	0	0	0	0.001168	0	6	27		
SF3A1	10291	broad.mit.edu	37	22	30735229	30735229	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:30735229C>G	ENST00000215793.8	-	10	1541	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	SF3A1_ENST00000439242.1_Missense_Mutation_p.E398Q	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	463					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAGCTGCTCTCAATATCCAGA	0.493																																						uc003ahl.2		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1387-1389)GAG>CAG		splicing factor 3a, subunit 1, 120kDa isoform 1							142.0	129.0	133.0					22																	30735229		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30735229C>G	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1387G>C	22.37:g.30735229C>G	ENSP00000215793:p.Glu463Gln						p.E463Q	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			10	1519	-			463					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.1387G>C	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273040	0.80580	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.32988	1.43;1.44	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.68317	2.08	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.37526	-0.9702	10	0.27082	T	0.32	-31.9636	20.3248	0.98698	0.0:1.0:0.0:0.0	.	463	Q15459	SF3A1_HUMAN	Q	398;463;360	ENSP00000390336:E398Q;ENSP00000215793:E463Q	ENSP00000215793:E463Q	E	-	1	0	SF3A1	29065229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.866000	0.69590	2.818000	0.97014	0.655000	0.94253	GAG		0.493	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2		NM_005877		9	132	0	0	0	0.008291	0	9	132		
DRG1	4733	broad.mit.edu	37	22	31796663	31796663	+	Missense_Mutation	SNP	C	C	T	rs28369552		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:31796663C>T	ENST00000331457.4	+	2	261	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	34					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GCTTAAGGCTCGTCTTGCTAA	0.458																																						uc003aku.2		NaN																	0				central_nervous_system(1)	1						c.(100-102)CGT>TGT		developmentally regulated GTP binding protein 1							81.0	74.0	76.0					22																	31796663		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31796663C>T	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.100C>T	22.37:g.31796663C>T	ENSP00000329715:p.Arg34Cys						p.R34C	NM_004147	NP_004138	Q9Y295	DRG1_HUMAN			2	231	+			34					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.100C>T	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760045	0.69763	.	.	ENSG00000185721	ENST00000331457	T	0.18174	2.23	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	M	0.91717	3.235	0.80722	D	1	B	0.19200	0.034	B	0.13407	0.009	T	0.39941	-0.9589	10	0.87932	D	0	-1.7842	17.2645	0.87083	0.0:1.0:0.0:0.0	.	34	Q9Y295	DRG1_HUMAN	C	34	ENSP00000329715:R34C	ENSP00000329715:R34C	R	+	1	0	DRG1	30126663	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.998000	0.63927	2.379000	0.81126	0.563000	0.77884	CGT		0.458	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5		NM_004147		33	50	0	0	0	0.003755	0	33	50		
APOL1	8542	broad.mit.edu	37	22	36661254	36661254	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:36661254G>A	ENST00000397278.3	+	6	601	c.372G>A	c.(370-372)atG>atA	p.M124I	APOL1_ENST00000426053.1_Missense_Mutation_p.M106I|APOL1_ENST00000397279.4_Missense_Mutation_p.M124I|APOL1_ENST00000319136.4_Missense_Mutation_p.M140I|APOL1_ENST00000347595.7_Missense_Mutation_p.M3I|APOL1_ENST00000422706.1_Missense_Mutation_p.M124I|APOL1_ENST00000440669.2_3'UTR	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	124					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AAATGATCATGAAAGACAAAA	0.428																																						uc003apf.2		NaN																	0				breast(2)|ovary(1)	3						c.(370-372)ATG>ATA		apolipoprotein L1 isoform a precursor							84.0	78.0	80.0					22																	36661254		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661254G>A	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.372G>A	22.37:g.36661254G>A	ENSP00000380448:p.Met124Ile					APOL1_uc011amn.1_Missense_Mutation_p.M1I|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.M140I|APOL1_uc011amo.1_Missense_Mutation_p.M1I|APOL1_uc011amp.1_Missense_Mutation_p.M124I|APOL1_uc011amq.1_Missense_Mutation_p.M106I|APOL1_uc010gwx.2_Missense_Mutation_p.M1I	p.M124I	NM_003661	NP_003652	O14791	APOL1_HUMAN			6	540	+			124					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.372G>A	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	4.278	0.050758	0.08243	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000347595;ENST00000397279	T;T;T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09;4.09;4.09	2.31	-4.63	0.03359	.	4.974730	0.00166	N	0.000002	T	0.02342	0.0072	L	0.27053	0.805	0.09310	N	1	P;P;B	0.34462	0.454;0.454;0.4	B;B;B	0.37780	0.258;0.258;0.167	T	0.38607	-0.9653	10	0.15499	T	0.54	.	2.6197	0.04913	0.2699:0.0:0.3527:0.3774	.	106;124;140	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	I	124;124;106;140;124;3;124	ENSP00000380448:M124I;ENSP00000411507:M124I;ENSP00000388477:M106I;ENSP00000317674:M140I;ENSP00000391302:M124I;ENSP00000216178:M3I;ENSP00000380449:M124I	ENSP00000317674:M140I	M	+	3	0	APOL1	34991200	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.890000	0.04140	-0.816000	0.04340	0.194000	0.17425	ATG		0.428	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4		NM_145343		21	68	0	0	0	0.012319	0	21	68		
MYH9	4627	broad.mit.edu	37	22	36696992	36696992	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:36696992C>T	ENST00000216181.5	-	22	2973	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	915					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCAGATCTCTTCTAATTCC	0.607			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(2743-2745)GAG>AAG		myosin, heavy polypeptide 9, non-muscle							85.0	92.0	90.0					22																	36696992		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696992C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2743G>A	22.37:g.36696992C>T	ENSP00000216181:p.Glu915Lys					MYH9_uc003aph.1_Missense_Mutation_p.E779K	p.E915K	NM_002473	NP_002464	P35579	MYH9_HUMAN			22	2974	-			915			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2743G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249622	0.95305	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.92752	-3.1	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	M	0.79343	2.45	0.80722	D	1	B	0.24920	0.114	B	0.28139	0.086	D	0.91030	0.4863	10	0.66056	D	0.02	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	915	P35579	MYH9_HUMAN	K	779;915	ENSP00000216181:E915K	ENSP00000216181:E915K	E	-	1	0	MYH9	35026938	1.000000	0.71417	0.996000	0.52242	0.710000	0.40934	7.747000	0.85070	2.604000	0.88044	0.655000	0.94253	GAG		0.607	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		54	76	0	0	0	0.01441	0	54	76		
DMC1	11144	broad.mit.edu	37	22	38916075	38916075	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:38916075C>T	ENST00000216024.2	-	14	1249	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	DMC1_ENST00000428462.2_Missense_Mutation_p.E270K	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	325					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAGGTGGCTTCATTTTCAGGC	0.393								Homologous recombination																														uc003avz.1		NaN																	0				ovary(1)	1						c.(973-975)GAA>AAA	Homologous_recombination	DMC1 dosage suppressor of mck1 homolog							115.0	105.0	108.0					22																	38916075		2203	4300	6503	SO:0001583	missense	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38916075C>T	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.973G>A	22.37:g.38916075C>T	ENSP00000216024:p.Glu325Lys					DMC1_uc011anv.1_Missense_Mutation_p.E270K	p.E325K	NM_007068	NP_008999	Q14565	DMC1_HUMAN			14	1148	-	Melanoma(58;0.0286)		325					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	c.973G>A	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545912	0.96488	.	.	ENSG00000100206	ENST00000216024;ENST00000428462	T;T	0.57436	0.4;0.4	5.96	5.96	0.96718	DNA recombination and repair protein Rad51, C-terminal (1);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.82462	-0.0445	10	0.87932	D	0	-47.5684	19.1838	0.93633	0.0:1.0:0.0:0.0	.	270;325	B4DMW6;Q14565	.;DMC1_HUMAN	K	325;270	ENSP00000216024:E325K;ENSP00000412703:E270K	ENSP00000216024:E325K	E	-	1	0	DMC1	37246021	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.958000	0.76025	2.824000	0.97209	0.655000	0.94253	GAA		0.393	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2		NM_007068		21	73	0	0	0	0.003954	0	21	73		
ENTHD1	150350	broad.mit.edu	37	22	40139834	40139834	+	Silent	SNP	C	C	T	rs368803554		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:40139834C>T	ENST00000325157.6	-	7	1924	c.1674G>A	c.(1672-1674)gcG>gcA	p.A558A		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	558										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ATCTAGCGATCGCACGTTTTA	0.413																																						uc003ayg.2		NaN																	0				ovary(2)|skin(1)	3						c.(1672-1674)GCG>GCA		ENTH domain containing 1		C		0,4406		0,0,2203	137.0	117.0	124.0		1674	-11.5	0.0	22		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ENTHD1	NM_152512.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		558/608	40139834	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	150350							g.chr22:40139834C>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1674G>A	22.37:g.40139834C>T							p.A558A	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1925	-	Melanoma(58;0.0749)		558			Potential.		B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	c.1674G>A	CCDS13998.1																																																																																				0.413	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512		7	60	0	0	0	0.00308	0	7	60		
CELSR1	9620	broad.mit.edu	37	22	46930167	46930167	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:46930167C>A	ENST00000262738.3	-	1	2900	c.2901G>T	c.(2899-2901)tgG>tgT	p.W967C	CELSR1_ENST00000395964.1_Missense_Mutation_p.W967C|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	967	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCCAGAGCCCAAAGGTTGT	0.597																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(2899-2901)TGG>TGT		cadherin EGF LAG seven-pass G-type receptor 1							61.0	62.0	61.0					22																	46930167		2202	4300	6502	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930167C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2901G>T	22.37:g.46930167C>A	ENSP00000262738:p.Trp967Cys						p.W967C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2901	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	967			Extracellular (Potential).|Cadherin 7.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2901G>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.382|9.382	1.073373|1.073373	0.20147|0.20147	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|T;T	.|0.51325	.|0.71;0.71	4.42|4.42	-0.12|-0.12	0.13539|0.13539	.|Cadherin (4);Cadherin-like (1);	.|0.289868	.|0.25391	.|U	.|0.031016	T|T	0.28034|0.28034	0.0691|0.0691	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999994|0.999994	.|P	.|0.47106	.|0.89	.|B	.|0.42245	.|0.381	T|T	0.06373|0.06373	-1.0830|-1.0830	5|10	.|0.54805	.|T	.|0.06	.|.	2.4639|2.4639	0.04548|0.04548	0.262:0.4621:0.1272:0.1486|0.262:0.4621:0.1272:0.1486	.|.	.|967	.|Q9NYQ6	.|CELR1_HUMAN	V|C	342|967	.|ENSP00000262738:W967C;ENSP00000379293:W967C	.|ENSP00000262738:W967C	G|W	-|-	2|3	0|0	CELSR1|CELSR1	45308831|45308831	0.847000|0.847000	0.29606|0.29606	0.092000|0.092000	0.20876|0.20876	0.427000|0.427000	0.31564|0.31564	0.035000|0.035000	0.13797|0.13797	-0.083000|-0.083000	0.12618|0.12618	0.462000|0.462000	0.41574|0.41574	GGG|TGG		0.597	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		20	19	1	0	5.26018e-13	0.012319	5.66616e-13	20	19		
CNTN6	27255	broad.mit.edu	37	3	1367574	1367574	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:1367574C>G	ENST00000446702.2	+	9	1649	c.1022C>G	c.(1021-1023)gCt>gGt	p.A341G	CNTN6_ENST00000539053.1_Missense_Mutation_p.A269G|CNTN6_ENST00000350110.2_Missense_Mutation_p.A341G			Q9UQ52	CNTN6_HUMAN	contactin 6	341	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAATGTAAAGCTAGTGGAAAG	0.398																																						uc003boz.2		NaN																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(1021-1023)GCT>GGT		contactin 6 precursor							124.0	117.0	119.0					3																	1367574		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1367574C>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1022C>G	3.37:g.1367574C>G	ENSP00000407822:p.Ala341Gly					CNTN6_uc011asj.1_Missense_Mutation_p.A269G|CNTN6_uc003bpa.2_Missense_Mutation_p.A341G	p.A341G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	9	1289	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	341			Ig-like C2-type 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1022C>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156632	0.78114	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.69306	-0.39;-0.39;-0.39	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000041	D	0.86079	0.5847	M	0.92555	3.32	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89371	0.3675	10	0.72032	D	0.01	.	17.0749	0.86583	0.0:1.0:0.0:0.0	.	341	Q9UQ52	CNTN6_HUMAN	G	341;269;341	ENSP00000407822:A341G;ENSP00000442791:A269G;ENSP00000341882:A341G	ENSP00000341882:A341G	A	+	2	0	CNTN6	1342574	1.000000	0.71417	0.997000	0.53966	0.505000	0.33919	7.016000	0.76393	2.460000	0.83146	0.650000	0.86243	GCT		0.398	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2		NM_014461		19	78	0	0	0	0.006122	0	19	78		
CNTN6	27255	broad.mit.edu	37	3	1414637	1414637	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:1414637G>C	ENST00000446702.2	+	14	2411	c.1784G>C	c.(1783-1785)aGa>aCa	p.R595T	CNTN6_ENST00000539053.1_Missense_Mutation_p.R523T|CNTN6_ENST00000350110.2_Missense_Mutation_p.R595T			Q9UQ52	CNTN6_HUMAN	contactin 6	595					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATCATTGTTAGAGGTAAGCAT	0.353																																						uc003boz.2		NaN																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(1783-1785)AGA>ACA		contactin 6 precursor							98.0	103.0	101.0					3																	1414637		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1414637G>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1784G>C	3.37:g.1414637G>C	ENSP00000407822:p.Arg595Thr					CNTN6_uc011asj.1_Missense_Mutation_p.R523T|CNTN6_uc003bpa.2_Missense_Mutation_p.R595T	p.R595T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	14	2051	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	595					Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1784G>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252952	0.80135	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.39787	1.06;1.06;1.06	5.51	5.51	0.81932	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.67608	0.2911	M	0.78344	2.41	0.58432	D	0.99999	D	0.64830	0.994	D	0.75020	0.985	T	0.68985	-0.5265	10	0.59425	D	0.04	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	595	Q9UQ52	CNTN6_HUMAN	T	595;523;595	ENSP00000407822:R595T;ENSP00000442791:R523T;ENSP00000341882:R595T	ENSP00000341882:R595T	R	+	2	0	CNTN6	1389637	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.254000	0.65457	2.736000	0.93811	0.655000	0.94253	AGA		0.353	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2		NM_014461		7	97	0	0	0	0.001984	0	7	97		
LRRN1	57633	broad.mit.edu	37	3	3887485	3887485	+	Missense_Mutation	SNP	C	C	T	rs145675446		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:3887485C>T	ENST00000319331.3	+	2	1921	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	387	LRRCT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCCAACAAAACCAACATCCGC	0.493																																						uc003bpt.3		NaN																	0				central_nervous_system(1)	1						c.(1159-1161)ACC>ATC		leucine rich repeat neuronal 1 precursor							96.0	96.0	96.0					3																	3887485		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887485C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1160C>T	3.37:g.3887485C>T	ENSP00000314901:p.Thr387Ile					SUMF1_uc003bps.1_Intron	p.T387I	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1921	+			387			LRRCT.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1160C>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968846	0.74131	.	.	ENSG00000175928	ENST00000319331	T	0.24538	1.85	5.65	5.65	0.86999	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	L	0.58969	1.84	0.80722	D	1	D	0.65815	0.995	P	0.59487	0.858	T	0.16276	-1.0408	10	0.42905	T	0.14	.	19.7243	0.96157	0.0:1.0:0.0:0.0	.	387	Q6UXK5	LRRN1_HUMAN	I	387	ENSP00000314901:T387I	ENSP00000314901:T387I	T	+	2	0	LRRN1	3862485	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	4.816000	0.62642	2.665000	0.90641	0.650000	0.86243	ACC		0.493	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2		NM_020873		42	56	0	0	0	0.007835	0	42	56		
BRPF1	7862	broad.mit.edu	37	3	9776368	9776368	+	Silent	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:9776368C>A	ENST00000457855.1	+	1	555	c.544C>A	c.(544-546)Cgg>Agg	p.R182R	BRPF1_ENST00000424362.1_Silent_p.R182R|BRPF1_ENST00000383829.2_Silent_p.R182R|BRPF1_ENST00000433861.2_Silent_p.R182R|BRPF1_ENST00000302054.3_Silent_p.R182R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	182	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GGTGGTCTATCGGGAGCTGGA	0.557																																						uc003bse.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(544-546)CGG>AGG		bromodomain and PHD finger-containing protein 1							61.0	67.0	65.0					3																	9776368		2203	4300	6503	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776368C>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.544C>A	3.37:g.9776368C>A						BRPF1_uc003bsf.2_Silent_p.R182R|BRPF1_uc003bsg.2_Silent_p.R182R|BRPF1_uc011ati.1_Silent_p.R182R	p.R182R	NM_004634	NP_004625	P55201	BRPF1_HUMAN			2	943	+	Medulloblastoma(99;0.227)		182			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.544C>A	CCDS2575.1																																																																																				0.557	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1		NM_001003694		30	54	1	0	1.80694e-10	0.009535	1.91745e-10	30	54		
IL17RE	132014	broad.mit.edu	37	3	9945786	9945786	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:9945786C>T	ENST00000383814.3	+	3	324	c.219C>T	c.(217-219)gtC>gtT	p.V73V	IL17RE_ENST00000421412.1_Silent_p.V106V|IL17RE_ENST00000295980.3_Silent_p.V73V|IL17RE_ENST00000454190.2_Silent_p.V73V	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	73					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GTGTGCGAGTCTGGCACTGTT	0.532																																						uc003btu.2		NaN																	0				central_nervous_system(1)	1						c.(217-219)GTC>GTT		interleukin 17 receptor E isoform 1							222.0	206.0	211.0					3																	9945786		2203	4300	6503	SO:0001819	synonymous_variant	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9945786C>T	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.219C>T	3.37:g.9945786C>T						CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Silent_p.V73V|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Silent_p.V73V|IL17RE_uc003btx.2_Intron|IL17RE_uc010hcq.2_Silent_p.V73V|IL17RE_uc003bty.2_RNA	p.V73V	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	4	336	+			73			Extracellular (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	c.219C>T	CCDS2589.1																																																																																				0.532	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1		NM_153480		54	117	0	0	0	0.01441	0	54	117		
FANCD2	2177	broad.mit.edu	37	3	10084780	10084780	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:10084780T>G	ENST00000419585.1	+	12	1096	c.935T>G	c.(934-936)tTg>tGg	p.L312W	FANCD2_ENST00000287647.3_Missense_Mutation_p.L312W|FANCD2_ENST00000383807.1_Missense_Mutation_p.L312W|FANCD2_ENST00000383806.1_Missense_Mutation_p.L312W			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	312	Interaction with BRCA2.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CATTGTGTTTTGCCATCACGG	0.428			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(934-936)TTG>TGG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							88.0	84.0	85.0					3																	10084780		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10084780T>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.935T>G	3.37:g.10084780T>G	ENSP00000398754:p.Leu312Trp					FANCD2_uc003bux.1_Missense_Mutation_p.L312W|FANCD2_uc003buy.1_Missense_Mutation_p.L312W	p.L312W	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	12	1013	+			312			Interaction with BRCA2.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.935T>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.606725	0.46527	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.09	5.09	0.68999	.	0.140394	0.47455	D	0.000238	T	0.75517	0.3860	M	0.78916	2.43	0.36826	D	0.886662	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.80630	-0.1297	10	0.56958	D	0.05	.	7.632	0.28245	0.0:0.0949:0.0:0.9051	.	312;312	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	W	312	ENSP00000287647:L312W;ENSP00000373318:L312W;ENSP00000373317:L312W;ENSP00000398754:L312W	ENSP00000287647:L312W	L	+	2	0	FANCD2	10059780	1.000000	0.71417	0.990000	0.47175	0.214000	0.24535	3.385000	0.52485	1.931000	0.55961	0.373000	0.22412	TTG		0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				21	63	0	0	0	0.012319	0	21	63		
SLC6A1	6529	broad.mit.edu	37	3	11067485	11067485	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:11067485C>T	ENST00000287766.4	+	9	1297	c.876C>T	c.(874-876)atC>atT	p.I292I	SLC6A1_ENST00000536032.1_Silent_p.I114I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	292					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CAACCCAGATCTTCTTCTCAT	0.517																																						uc010hdq.2		NaN																	0				ovary(1)|skin(1)	2						c.(874-876)ATC>ATT		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						108.0	110.0	109.0					3																	11067485		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067485C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.876C>T	3.37:g.11067485C>T							p.I292I	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	9	1287	+		Ovarian(110;0.0392)	292			Helical; Name=6; (Potential).		Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.876C>T	CCDS2603.1																																																																																				0.517	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2		NM_003042		8	136	0	0	0	0.006214	0	8	136		
RBMS3	27303	broad.mit.edu	37	3	29628627	29628627	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:29628627C>G	ENST00000383767.2	+	4	666	c.330C>G	c.(328-330)gaC>gaG	p.D110E	RBMS3_ENST00000273139.9_Missense_Mutation_p.D110E|RBMS3_ENST00000445033.1_Missense_Mutation_p.D110E|RBMS3_ENST00000383766.2_Missense_Mutation_p.D109E|RBMS3_ENST00000434693.2_Missense_Mutation_p.D109E|RBMS3_ENST00000456853.1_Missense_Mutation_p.D110E|RBMS3_ENST00000396583.3_Missense_Mutation_p.D110E|RBMS3_ENST00000452462.1_Missense_Mutation_p.D110E			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	110	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TAGATTTTGACAGTCCTGCAG	0.403																																						uc003cel.2		NaN																	0				central_nervous_system(1)	1						c.(328-330)GAC>GAG		RNA binding motif, single stranded interacting							136.0	140.0	138.0					3																	29628627		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29628627C>G	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.330C>G	3.37:g.29628627C>G	ENSP00000373277:p.Asp110Glu					RBMS3_uc003cek.2_Missense_Mutation_p.D110E|RBMS3_uc010hfq.2_Missense_Mutation_p.D110E|RBMS3_uc003cem.2_Missense_Mutation_p.D109E|RBMS3_uc010hfr.2_Missense_Mutation_p.D110E	p.D110E	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			4	560	+		Ovarian(412;0.0956)	110			RRM 1.		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.330C>G	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387688	0.42308	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.77	3.98	0.46160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.246210	0.41823	D	0.000816	T	0.05777	0.0151	N	0.02345	-0.59	0.47245	D	0.999362	B;B;B;B	0.19817	0.012;0.011;0.039;0.035	B;B;B;B	0.25759	0.017;0.028;0.061;0.063	T	0.33292	-0.9874	9	.	.	.	.	12.2097	0.54373	0.0:0.8622:0.0:0.1378	.	110;110;109;110	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	E	109;110;110;110;110;109;110;110	ENSP00000395592:D109E;ENSP00000379828:D110E;ENSP00000373277:D110E;ENSP00000391934:D110E;ENSP00000273139:D110E;ENSP00000373276:D109E;ENSP00000397926:D110E;ENSP00000400519:D110E	.	D	+	3	2	RBMS3	29603631	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.351000	0.52232	0.791000	0.33826	0.542000	0.68232	GAC		0.403	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1		NM_001003792		5	50	0	0	0	0.000602	0	5	50		
POMGNT2	84892	broad.mit.edu	37	3	43122498	43122498	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:43122498G>A	ENST00000344697.2	-	2	771	c.426C>T	c.(424-426)ttC>ttT	p.F142F	POMGNT2_ENST00000441964.1_Silent_p.F142F	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	142					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GCTTGGGCATGAAGCGCAGGG	0.617																																						uc003cmq.1		NaN																	0				ovary(1)|skin(1)	2						c.(424-426)TTC>TTT		glycosyltransferase precursor							107.0	100.0	102.0					3																	43122498		2203	4300	6503	SO:0001819	synonymous_variant	84892					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:43122498G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.426C>T	3.37:g.43122498G>A						C3orf39_uc003cmr.1_Silent_p.F142F	p.F142F	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	2	567	-			142					B3KWC3|Q96SY3	Silent	SNP	ENST00000344697.2	37	c.426C>T	CCDS2709.1																																																																																				0.617	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1		NM_032806		11	95	0	0	0	0.013537	0	11	95		
ZDHHC3	51304	broad.mit.edu	37	3	45000761	45000761	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:45000761G>C	ENST00000424952.2	-	2	436	c.168C>G	c.(166-168)ctC>ctG	p.L56L	ZDHHC3_ENST00000296127.3_Silent_p.L56L|ZDHHC3_ENST00000342790.4_Silent_p.L56L	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	56					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ACTCCGCATAGAGGACCAGAA	0.537																																						uc003cod.2		NaN																	0					0						c.(166-168)CTC>CTG		zinc finger, DHHC-type containing 3 isoform 2							136.0	124.0	128.0					3																	45000761		2203	4300	6503	SO:0001819	synonymous_variant	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:45000761G>C	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.168C>G	3.37:g.45000761G>C						ZDHHC3_uc003cog.2_Silent_p.L56L|ZDHHC3_uc011bad.1_Silent_p.L56L	p.L56L	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	2	442	-			56			Helical; (Potential).		Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	c.168C>G	CCDS46811.1																																																																																				0.537	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1		NM_016598		9	100	0	0	0	0.004482	0	9	100		
ZDHHC3	51304	broad.mit.edu	37	3	45000794	45000794	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:45000794G>A	ENST00000424952.2	-	2	403	c.135C>T	c.(133-135)atC>atT	p.I45I	ZDHHC3_ENST00000296127.3_Silent_p.I45I|ZDHHC3_ENST00000342790.4_Silent_p.I45I	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	45					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TGGCACAGGCGATGCCACAGC	0.537																																						uc003cod.2		NaN																	0					0						c.(133-135)ATC>ATT		zinc finger, DHHC-type containing 3 isoform 2							132.0	121.0	125.0					3																	45000794		2203	4300	6503	SO:0001819	synonymous_variant	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:45000794G>A	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.135C>T	3.37:g.45000794G>A						ZDHHC3_uc003cog.2_Silent_p.I45I|ZDHHC3_uc011bad.1_Silent_p.I45I	p.I45I	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	2	409	-			45			Cytoplasmic (Potential).		Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	c.135C>T	CCDS46811.1																																																																																				0.537	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1		NM_016598		14	105	0	0	0	0.003163	0	14	105		
CCR3	1232	broad.mit.edu	37	3	46306895	46306895	+	Silent	SNP	C	C	G	rs200237278		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:46306895C>G	ENST00000357422.2	+	4	789	c.246C>G	c.(244-246)ctC>ctG	p.L82L	CCR3_ENST00000541018.1_Silent_p.L82L|CCR3_ENST00000395940.2_Silent_p.L82L|CCR3_ENST00000545097.1_Silent_p.L103L|CCR3_ENST00000395942.2_Silent_p.L82L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	82				LL -> QG (in Ref. 7; AAL85630). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CGGACCTGCTCTTCCTCGTCA	0.498																																						uc003cpg.1		NaN																	0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(244-246)CTC>CTG		CC chemokine receptor 3 isoform 1		C	,,,	1,4405	2.1+/-5.4	0,1,2202	189.0	164.0	172.0		300,246,309,246	4.3	1.0	3		172	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CCR3	NM_001164680.1,NM_001837.3,NM_178328.1,NM_178329.2	,,,	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	,,,	100/374,82/356,103/377,82/356	46306895	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306895C>G	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.246C>G	3.37:g.46306895C>G						CCR3_uc003cpi.1_Silent_p.L82L|CCR3_uc003cpj.1_Silent_p.L82L|CCR3_uc003cpk.1_Silent_p.L103L|CCR3_uc010hjb.1_Silent_p.L100L|CCR3_uc003cpl.1_Silent_p.L115L	p.L82L	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	789	+			82			Helical; Name=2; (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP	ENST00000357422.2	37	c.246C>G	CCDS2738.1																																																																																				0.498	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2				12	208	0	0	0	0.013537	0	12	208		
USP4	7375	broad.mit.edu	37	3	49331930	49331930	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:49331930G>A	ENST00000265560.4	-	14	1839	c.1793C>T	c.(1792-1794)tCa>tTa	p.S598L	USP4_ENST00000351842.4_Missense_Mutation_p.S551L	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	598	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ATATAGCGCTGATGCGGAGGA	0.527																																						uc003cwq.2		NaN																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(1792-1794)TCA>TTA		ubiquitin specific protease 4 isoform a							165.0	133.0	143.0					3																	49331930		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49331930G>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1793C>T	3.37:g.49331930G>A	ENSP00000265560:p.Ser598Leu					USP4_uc003cwo.2_Missense_Mutation_p.S310L|USP4_uc003cwp.2_Missense_Mutation_p.S328L|USP4_uc003cwr.2_Missense_Mutation_p.S551L	p.S598L	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	14	1872	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	598					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1793C>T	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	2.515	-0.312058	0.05422	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.21031	2.03;2.16	5.73	3.95	0.45737	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.243501	0.47455	D	0.000232	T	0.09598	0.0236	N	0.05554	-0.025	0.80722	D	1	B;B;B	0.16802	0.007;0.0;0.019	B;B;B	0.20955	0.014;0.002;0.032	T	0.11842	-1.0571	10	0.07030	T	0.85	-3.2766	11.056	0.47918	0.1501:0.0:0.8499:0.0	.	551;598;598	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	L	551;598	ENSP00000341028:S551L;ENSP00000265560:S598L	ENSP00000265560:S598L	S	-	2	0	USP4	49306934	1.000000	0.71417	0.136000	0.22124	0.013000	0.08279	5.010000	0.64004	0.777000	0.33496	0.650000	0.86243	TCA		0.527	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443		8	80	0	0	0	0.004482	0	8	80		
ACTR8	93973	broad.mit.edu	37	3	53902769	53902769	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:53902769C>G	ENST00000335754.3	-	13	1952	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	ACTR8_ENST00000482349.1_Missense_Mutation_p.E507Q|ACTR8_ENST00000231909.7_Missense_Mutation_p.E323Q|ACTR8_ENST00000488802.1_5'UTR	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	618					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GCAGCCCGCTCTCGTAACATG	0.478																																						uc003dhd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1852-1854)GAG>CAG		actin-related protein 8							97.0	86.0	90.0					3																	53902769		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53902769C>G		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1852G>C	3.37:g.53902769C>G	ENSP00000336842:p.Glu618Gln					ACTR8_uc003dhb.2_Missense_Mutation_p.E323Q|ACTR8_uc003dhc.2_Missense_Mutation_p.E507Q	p.E618Q	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	13	1911	-			618					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.1852G>C	CCDS2875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.729757|4.729757	0.89390|0.89390	.|.	.|.	ENSG00000113812|ENSG00000113812	ENST00000486794|ENST00000335754;ENST00000482349;ENST00000231909	.|D;D;D	.|0.94376	.|-3.41;-3.41;-3.41	5.91|5.91	5.04|5.04	0.67666|0.67666	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.95522|0.95522	0.8545|0.8545	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.997	D|D	0.95820|0.95820	0.8849|0.8849	6|10	.|0.62326	.|D	.|0.03	-28.7097|-28.7097	16.5754|16.5754	0.84635|0.84635	0.1314:0.8686:0.0:0.0|0.1314:0.8686:0.0:0.0	.|.	.|618;323	.|Q9H981;Q9H981-3	.|ARP8_HUMAN;.	D|Q	371|618;507;323	.|ENSP00000336842:E618Q;ENSP00000419429:E507Q;ENSP00000231909:E323Q	.|ENSP00000231909:E323Q	E|E	-|-	3|1	2|0	ACTR8|ACTR8	53877809|53877809	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.923000|0.923000	0.55619|0.55619	7.399000|7.399000	0.79935|0.79935	1.498000|1.498000	0.48600|0.48600	-0.175000|-0.175000	0.13238|0.13238	GAG|GAG		0.478	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2		NM_022899		9	44	0	0	0	0.004482	0	9	44		
DNASE1L3	1776	broad.mit.edu	37	3	58183687	58183687	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:58183687C>A	ENST00000394549.2	-	6	881	c.565G>T	c.(565-567)Gac>Tac	p.D189Y	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D159Y|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.D189Y|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D189Y	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	189					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCATTGAAGTCACCCATGAAA	0.512																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	uc003djo.1		NaN																	0				breast(2)|large_intestine(1)	3						c.(565-567)GAC>TAC		deoxyribonuclease I-like 3 precursor							63.0	64.0	64.0					3																	58183687		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58183687C>A	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.565G>T	3.37:g.58183687C>A	ENSP00000378053:p.Asp189Tyr					DNASE1L3_uc011bfd.1_Missense_Mutation_p.D159Y|DNASE1L3_uc003djp.1_Missense_Mutation_p.D189Y|DNASE1L3_uc003djq.1_Missense_Mutation_p.D189Y	p.D189Y	NM_004944	NP_004935	Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	6	662	-			189					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.565G>T	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776670	0.90195	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62	5.25	5.25	0.73442	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97854	1.0276	10	0.87932	D	0	.	19.0335	0.92967	0.0:1.0:0.0:0.0	.	159;189;189	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	Y	159;189;189;189;63;189	ENSP00000419052:D159Y;ENSP00000316193:D189Y;ENSP00000417047:D189Y;ENSP00000417976:D63Y;ENSP00000378053:D189Y	ENSP00000316193:D189Y	D	-	1	0	DNASE1L3	58158727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.738000	0.93877	0.591000	0.81541	GAC		0.512	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1		NM_004944		14	30	1	0	2.32078e-09	0.003163	2.4546e-09	14	30		
KCTD6	200845	broad.mit.edu	37	3	58486802	58486802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:58486802C>T	ENST00000355076.6	+	2	1140	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	KCTD6_ENST00000404589.3_Nonsense_Mutation_p.Q53*|KCTD6_ENST00000490264.1_Nonsense_Mutation_p.Q53*|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	53	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TCGAGACCCTCAAGGCAATTA	0.453																																						uc003dkj.3		NaN																	0				skin(1)	1						c.(157-159)CAA>TAA		potassium channel tetramerisation domain							113.0	114.0	113.0					3																	58486802		2203	4300	6503	SO:0001587	stop_gained	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486802C>T	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.157C>T	3.37:g.58486802C>T	ENSP00000347188:p.Gln53*					KCTD6_uc003dki.3_Nonsense_Mutation_p.Q53*|KCTD6_uc003dkk.3_Nonsense_Mutation_p.Q53*	p.Q53*	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	3	274	+			53			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Nonsense_Mutation	SNP	ENST00000355076.6	37	c.157C>T	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	C	44	10.681787	0.99449	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000491093;ENST00000355076	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	.	.	.	X	53;53;44;53	.	ENSP00000347188:Q53X	Q	+	1	0	KCTD6	58461842	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.975000	0.70475	2.719000	0.93026	0.655000	0.94253	CAA		0.453	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1		NM_153331		40	77	0	0	0	0.005524	0	40	77		
NFKBIZ	64332	broad.mit.edu	37	3	101572646	101572646	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:101572646G>C	ENST00000326172.5	+	5	1391	c.1276G>C	c.(1276-1278)Gaa>Caa	p.E426Q	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E326Q|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.E304Q	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	426	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGAGCAGGAAGAAAGCAAATT	0.403																																						uc003dvp.2		NaN																	0				ovary(2)	2						c.(1276-1278)GAA>CAA		nuclear factor of kappa light polypeptide gene							45.0	45.0	45.0					3																	101572646		2194	4277	6471	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572646G>C	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1276G>C	3.37:g.101572646G>C	ENSP00000325663:p.Glu426Gln					NFKBIZ_uc003dvo.2_Missense_Mutation_p.E326Q|NFKBIZ_uc010hpo.2_Missense_Mutation_p.E326Q|NFKBIZ_uc003dvq.2_Missense_Mutation_p.E304Q	p.E426Q	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			5	1391	+			426			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1276G>C	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636083	0.67130	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.56941	0.46;0.43;0.57;0.49	5.65	5.65	0.86999	.	0.065511	0.64402	D	0.000006	T	0.61098	0.2320	L	0.27053	0.805	0.40929	D	0.984371	D;D	0.71674	0.997;0.998	D;P	0.63703	0.917;0.841	T	0.60500	-0.7251	10	0.44086	T	0.13	-23.5118	20.0835	0.97793	0.0:0.0:1.0:0.0	.	304;426	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	Q	326;326;304;426	ENSP00000419800:E326Q;ENSP00000377618:E326Q;ENSP00000325593:E304Q;ENSP00000325663:E426Q	ENSP00000325593:E304Q	E	+	1	0	NFKBIZ	103055336	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.779000	0.68948	2.822000	0.97130	0.563000	0.77884	GAA		0.403	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1		NM_031419		34	46	0	0	0	0.013726	0	34	46		
PHLDB2	90102	broad.mit.edu	37	3	111603414	111603414	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:111603414C>G	ENST00000431670.2	+	2	901	c.490C>G	c.(490-492)Ctt>Gtt	p.L164V	PHLDB2_ENST00000478922.1_Missense_Mutation_p.L164V|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L191V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L164V|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L164V|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L164V|PHLDB2_ENST00000477695.1_Missense_Mutation_p.L164V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	164						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTCTACTCTCTTGGAGGGCT	0.542																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(490-492)CTT>GTT		pleckstrin homology-like domain, family B,							66.0	68.0	67.0					3																	111603414		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603414C>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.490C>G	3.37:g.111603414C>G	ENSP00000405405:p.Leu164Val					PHLDB2_uc003dyc.2_Missense_Mutation_p.L191V|PHLDB2_uc003dyd.2_Missense_Mutation_p.L164V|PHLDB2_uc003dyg.2_Missense_Mutation_p.L164V|PHLDB2_uc003dyh.2_Missense_Mutation_p.L164V|PHLDB2_uc003dye.3_Missense_Mutation_p.L164V|PHLDB2_uc003dyf.3_Missense_Mutation_p.L164V	p.L164V	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	901	+			164					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.490C>G	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393480	0.25205	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.32753	1.44;1.47;1.45;1.45;1.47;1.45	5.51	3.73	0.42828	.	0.546700	0.18469	N	0.140299	T	0.31199	0.0789	L	0.36672	1.1	0.29521	N	0.853529	B;P;D;P;B	0.56035	0.07;0.952;0.974;0.873;0.4	B;P;P;B;B	0.50659	0.024;0.496;0.647;0.356;0.121	T	0.09530	-1.0670	10	0.36615	T	0.2	.	9.5944	0.39565	0.0:0.8352:0.0:0.1648	.	164;164;164;164;191	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	V	191;191;164;164;164;164;164;164;164	ENSP00000377500:L191V;ENSP00000405405:L164V;ENSP00000405292:L164V;ENSP00000418296:L164V;ENSP00000377502:L164V;ENSP00000418319:L164V	ENSP00000352764:L191V	L	+	1	0	PHLDB2	113086104	0.997000	0.39634	0.910000	0.35882	0.595000	0.36748	1.521000	0.35910	0.818000	0.34468	0.655000	0.94253	CTT		0.542	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		24	95	0	0	0	0.014323	0	24	95		
PHLDB2	90102	broad.mit.edu	37	3	111603734	111603734	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:111603734C>G	ENST00000431670.2	+	2	1221	c.810C>G	c.(808-810)ctC>ctG	p.L270L	PHLDB2_ENST00000478922.1_Silent_p.L270L|PHLDB2_ENST00000393923.3_Silent_p.L297L|PHLDB2_ENST00000412622.1_Silent_p.L270L|PHLDB2_ENST00000393925.3_Silent_p.L270L|PHLDB2_ENST00000481953.1_Silent_p.L270L|PHLDB2_ENST00000477695.1_Silent_p.L270L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	270						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGACACCTCTCAGCTTGCCTC	0.478																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(808-810)CTC>CTG		pleckstrin homology-like domain, family B,							57.0	57.0	57.0					3																	111603734		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603734C>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.810C>G	3.37:g.111603734C>G						PHLDB2_uc003dyc.2_Silent_p.L297L|PHLDB2_uc003dyd.2_Silent_p.L270L|PHLDB2_uc003dyg.2_Silent_p.L270L|PHLDB2_uc003dyh.2_Silent_p.L270L|PHLDB2_uc003dye.3_Silent_p.L270L|PHLDB2_uc003dyf.3_Silent_p.L270L	p.L270L	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	1221	+			270					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.810C>G	CCDS46886.1																																																																																				0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		13	53	0	0	0	0.001855	0	13	53		
GAP43	2596	broad.mit.edu	37	3	115395213	115395213	+	Silent	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:115395213T>C	ENST00000305124.6	+	2	750	c.384T>C	c.(382-384)ccT>ccC	p.P128P	GAP43_ENST00000393780.3_Silent_p.P164P	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	128					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCCAGGCTCCTGCATCCTCAG	0.602																																						uc003ebq.2		NaN																	0				ovary(1)	1						c.(382-384)CCT>CCC		growth associated protein 43 isoform 2							27.0	32.0	31.0					3																	115395213		2202	4299	6501	SO:0001819	synonymous_variant	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395213T>C		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.384T>C	3.37:g.115395213T>C						GAP43_uc003ebr.2_Silent_p.P164P	p.P128P	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	770	+			128					A8K0Y4	Silent	SNP	ENST00000305124.6	37	c.384T>C	CCDS33830.1																																																																																				0.602	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2		NM_002045		21	35	0	0	0	0.00278	0	21	35		
ALDH1L1	10840	broad.mit.edu	37	3	125828793	125828793	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:125828793G>A	ENST00000393434.2	-	20	2690	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.R781W|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.R791W|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.R680W|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	781	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCACCTGGCCGAGGGACCTGA	0.597																																						uc003eim.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2341-2343)CGG>TGG		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						103.0	77.0	86.0					3																	125828793		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125828793G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2341C>T	3.37:g.125828793G>A	ENSP00000377083:p.Arg781Trp					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.R680W|ALDH1L1_uc003ein.1_Missense_Mutation_p.R316W	p.R781W	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	20	2531	-			781			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2341C>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367969	0.42003	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	3.98	3.07	0.35406	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.068266	0.56097	D	0.000023	T	0.18964	0.0455	L	0.48935	1.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.958	T	0.00461	-1.1725	10	0.87932	D	0	.	8.6293	0.33908	0.0:0.0:0.5836:0.4164	.	680;316;781	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	W	791;781;680;781	ENSP00000273450:R791W;ENSP00000420293:R781W;ENSP00000395881:R680W;ENSP00000377083:R781W	ENSP00000273450:R791W	R	-	1	2	ALDH1L1	127311483	0.919000	0.31177	0.997000	0.53966	0.199000	0.23934	1.257000	0.32932	0.831000	0.34780	0.313000	0.20887	CGG		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1		NM_012190		11	30	0	0	0	0.010729	0	11	30		
TMCC1	23023	broad.mit.edu	37	3	129546893	129546893	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:129546893C>T	ENST00000393238.3	-	3	669	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	TMCC1_ENST00000426664.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	110						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGGTGGCACTCGAATCTGCTG	0.552																																						uc003emz.3		NaN																	0				skin(1)	1						c.(328-330)CGA>CAA		transmembrane and coiled-coil domain family 1							86.0	82.0	83.0					3																	129546893		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129546893C>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.329G>A	3.37:g.129546893C>T	ENSP00000376930:p.Arg110Gln					TMCC1_uc010htg.2_5'UTR	p.R110Q	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			4	830	-			110					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.329G>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614558	0.87359	.	.	ENSG00000172765	ENST00000393238	T	0.44083	0.93	5.68	4.81	0.61882	.	0.275859	0.29924	N	0.010853	T	0.43100	0.1232	L	0.61218	1.895	0.80722	D	1	B	0.19200	0.034	B	0.06405	0.002	T	0.41342	-0.9514	10	0.87932	D	0	-4.534	14.9296	0.70906	0.0:0.9312:0.0:0.0688	.	110	O94876	TMCC1_HUMAN	Q	110	ENSP00000376930:R110Q	ENSP00000376930:R110Q	R	-	2	0	TMCC1	131029583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.402000	0.79972	1.545000	0.49373	0.591000	0.81541	CGA		0.552	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2		NM_015008		31	67	0	0	0	0.013726	0	31	67		
COL6A6	131873	broad.mit.edu	37	3	130290033	130290033	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:130290033G>A	ENST00000358511.6	+	6	2804	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D925N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	925	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAATCCCATGATGCTGATAA	0.567																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2773-2775)GAT>AAT		collagen type VI alpha 6 precursor							63.0	63.0	63.0					3																	130290033		1942	4138	6080	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290033G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2773G>A	3.37:g.130290033G>A	ENSP00000351310:p.Asp925Asn						p.D925N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2804	+			925			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2773G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730523	0.89390	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.85013	-1.93;-1.93	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000015	D	0.92388	0.7584	M	0.78049	2.395	0.53688	D	0.999978	D	0.89917	1.0	D	0.85130	0.997	D	0.93418	0.6774	10	0.87932	D	0	.	17.8557	0.88762	0.0:0.0:1.0:0.0	.	925	A6NMZ7	CO6A6_HUMAN	N	925	ENSP00000351310:D925N;ENSP00000399236:D925N	ENSP00000351310:D925N	D	+	1	0	COL6A6	131772723	1.000000	0.71417	0.400000	0.26346	0.827000	0.46813	7.280000	0.78610	2.403000	0.81681	0.561000	0.74099	GAT		0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		13	65	0	0	0	0.001855	0	13	65		
C3orf36	80111	broad.mit.edu	37	3	133647541	133647541	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:133647541G>C	ENST00000408895.2	-	1	1115	c.107C>G	c.(106-108)tCt>tGt	p.S36C		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	36										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TGAGGGGGCAGAGAGACACGT	0.607																																						uc003epz.1		NaN																	0				ovary(1)	1						c.(106-108)TCT>TGT		hypothetical protein LOC80111							46.0	48.0	47.0					3																	133647541		2203	4299	6502	SO:0001583	missense	80111							g.chr3:133647541G>C	AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.107C>G	3.37:g.133647541G>C	ENSP00000386219:p.Ser36Cys						p.S36C	NM_025041	NP_079317	Q3SXR2	CC036_HUMAN			1	1116	-			36					Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	c.107C>G	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	G	7.530	0.658441	0.14645	.	.	ENSG00000221972	ENST00000408895	.	.	.	1.66	0.661	0.17874	.	.	.	.	.	T	0.32133	0.0819	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.65443	0.935	T	0.15150	-1.0447	8	0.87932	D	0	.	5.6412	0.17565	0.0:0.3472:0.6528:0.0	.	36	Q3SXR2	CC036_HUMAN	C	36	.	ENSP00000386219:S36C	S	-	2	0	C3orf36	135130231	0.413000	0.25400	0.004000	0.12327	0.007000	0.05969	0.998000	0.29744	0.219000	0.20840	0.313000	0.20887	TCT		0.607	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_025041		12	50	0	0	0	0.010729	0	12	50		
ZBTB38	253461	broad.mit.edu	37	3	141163197	141163197	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:141163197G>T	ENST00000514251.1	+	4	2246	c.1967G>T	c.(1966-1968)gGa>gTa	p.G656V	ZBTB38_ENST00000441582.2_Missense_Mutation_p.G656V|ZBTB38_ENST00000321464.5_Missense_Mutation_p.G657V					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACCAAATGGGGAGAGGAGGCA	0.468																																						uc003etw.2		NaN																	0				ovary(3)	3						c.(1966-1968)GGA>GTA		zinc finger and BTB domain containing 38							96.0	94.0	94.0					3																	141163197		1901	4132	6033	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163197G>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1967G>T	3.37:g.141163197G>T	ENSP00000426387:p.Gly656Val					ZBTB38_uc010hun.2_Missense_Mutation_p.G653V|ZBTB38_uc010huo.2_Missense_Mutation_p.G656V|ZBTB38_uc003ety.2_Missense_Mutation_p.G656V|ZBTB38_uc010hup.2_Missense_Mutation_p.G657V	p.G656V	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	2949	+			656						Missense_Mutation	SNP	ENST00000514251.1	37	c.1967G>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850540	0.32699	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.08896	3.52;3.04;3.04;3.04	5.55	5.55	0.83447	.	0.240795	0.34025	N	0.004334	T	0.07863	0.0197	L	0.40543	1.245	0.28565	N	0.910931	B;B	0.17038	0.02;0.02	B;B	0.18561	0.022;0.022	T	0.15263	-1.0443	9	.	.	.	-7.3272	10.0399	0.42151	0.1492:0.0:0.8508:0.0	.	657;656	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	V	656;656;656;657	ENSP00000424254:G656V;ENSP00000426387:G656V;ENSP00000406955:G656V;ENSP00000372635:G657V	.	G	+	2	0	ZBTB38	142645887	1.000000	0.71417	0.990000	0.47175	0.949000	0.60115	1.787000	0.38704	2.603000	0.88011	0.650000	0.86243	GGA		0.468	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2				20	119	1	0	1.00905e-13	0.008871	1.08875e-13	20	119		
HPS3	84343	broad.mit.edu	37	3	148868438	148868438	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:148868438G>A	ENST00000296051.2	+	6	1356	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	HPS3_ENST00000460120.1_Missense_Mutation_p.E241K	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	406					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCTCGTGAGGAGGACCCGTA	0.512									Hermansky-Pudlak syndrome																													uc003ewu.1		NaN																	0				ovary(5)|large_intestine(1)	6						c.(1216-1218)GAG>AAG		Hermansky-Pudlak syndrome 3 protein							132.0	117.0	122.0					3																	148868438		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148868438G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1216G>A	3.37:g.148868438G>A	ENSP00000296051:p.Glu406Lys					HPS3_uc003ewt.1_Missense_Mutation_p.E406K|HPS3_uc011bnq.1_Missense_Mutation_p.E241K	p.E406K	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1356	+			406					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1216G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620553	0.87460	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.62788	-0.0;-0.0	5.27	5.27	0.74061	.	0.175760	0.48767	N	0.000174	T	0.65312	0.2679	M	0.63843	1.955	0.34162	D	0.668748	P;P	0.48089	0.905;0.818	P;P	0.45610	0.487;0.487	T	0.78181	-0.2304	10	0.66056	D	0.02	-8.4417	15.5945	0.76569	0.0:0.1378:0.8622:0.0	.	241;406	G5E9V4;Q969F9	.;HPS3_HUMAN	K	406;241	ENSP00000296051:E406K;ENSP00000418230:E241K	ENSP00000296051:E406K	E	+	1	0	HPS3	150351128	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.277000	0.51654	2.621000	0.88768	0.650000	0.86243	GAG		0.512	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383		11	59	0	0	0	0.008291	0	11	59		
TRIM59	286827	broad.mit.edu	37	3	160156793	160156793	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:160156793C>T	ENST00000309784.4	-	3	364	c.179G>A	c.(178-180)aGa>aAa	p.R60K	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R60K|TRIM59_ENST00000543469.1_Missense_Mutation_p.R60K	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	60					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGTAATACTTCTGCAATTAGG	0.358																																						uc003fdm.2		NaN																	0					0						c.(178-180)AGA>AAA		tripartite motif-containing 59							106.0	109.0	108.0					3																	160156793		2203	4300	6503	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156793C>T	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.179G>A	3.37:g.160156793C>T	ENSP00000311219:p.Arg60Lys					IFT80_uc003fda.2_RNA	p.R60K	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	374	-			60			RING-type.		A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.179G>A	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910925	0.92178	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222;ENST00000471155;ENST00000494486;ENST00000468542	T;T;T;T;T;T;T;T	0.74842	0.26;0.26;0.26;0.26;0.26;0.26;0.26;-0.88	6.17	5.3	0.74995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.051793	0.85682	D	0.000000	D	0.82314	0.5010	L	0.48218	1.51	0.45979	D	0.998792	D	0.71674	0.998	D	0.77004	0.989	T	0.81667	-0.0829	9	.	.	.	-5.073	17.1019	0.86652	0.1277:0.8723:0.0:0.0	.	60	Q8IWR1	TRI59_HUMAN	K	60;60;60;60;88;60;60;67	ENSP00000444313:R60K;ENSP00000311219:R60K;ENSP00000417081:R60K;ENSP00000420520:R60K;ENSP00000418856:R88K;ENSP00000418699:R60K;ENSP00000417605:R60K;ENSP00000420451:R67K	.	R	-	2	0	TRIM59	161639487	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	1.615000	0.50252	0.655000	0.94253	AGA		0.358	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1		NM_173084		20	89	0	0	0	0.008871	0	20	89		
ATP11B	23200	broad.mit.edu	37	3	182577088	182577088	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:182577088G>A	ENST00000323116.5	+	12	1401	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	381					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTGTATCATGAAGAATCAGA	0.328																																						uc003flb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1141-1143)GAA>AAA		ATPase, class VI, type 11B							44.0	42.0	42.0					3																	182577088		2203	4299	6502	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182577088G>A	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1141G>A	3.37:g.182577088G>A	ENSP00000321195:p.Glu381Lys						p.E381K	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		12	1398	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		381			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.1141G>A	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.223947|4.223947	0.79576|0.79576	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	T|.	0.63744|.	-0.06|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.047077|.	0.85682|.	D|.	0.000000|.	T|T	0.54191|0.54191	0.1843|0.1843	N|N	0.16743|0.16743	0.435|0.435	0.80722|0.80722	D|D	1|1	B|.	0.23490|.	0.086|.	B|.	0.29077|.	0.098|.	T|T	0.45411|0.45411	-0.9263|-0.9263	10|5	0.52906|.	T|.	0.07|.	.|.	20.4387|20.4387	0.99107|0.99107	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	381|.	Q9Y2G3|.	AT11B_HUMAN|.	K|I	381|181	ENSP00000321195:E381K|.	ENSP00000321195:E381K|.	E|M	+|+	1|3	0|0	ATP11B|ATP11B	184059782|184059782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.004000|8.004000	0.88535|0.88535	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.328	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1		NM_014616		16	22	0	0	0	0.004007	0	16	22		
HTR3E	285242	broad.mit.edu	37	3	183824447	183824447	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:183824447C>G	ENST00000415389.2	+	9	1803	c.1337C>G	c.(1336-1338)tCt>tGt	p.S446C	HTR3E_ENST00000440596.2_Missense_Mutation_p.S472C|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.S446C|HTR3E_ENST00000335304.2_Missense_Mutation_p.S461C|HTR3E_ENST00000425359.2_Missense_Mutation_p.S431C	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	446					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ATGGCCTCCTCTATCATCACC	0.592																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1336-1338)TCT>TGT		5-hydroxytryptamine receptor 3 subunit E							183.0	162.0	169.0					3																	183824447		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183824447C>G	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1337C>G	3.37:g.183824447C>G	ENSP00000401444:p.Ser446Cys					HTR3E_uc003fml.3_Missense_Mutation_p.S431C|HTR3E_uc003fmm.2_Missense_Mutation_p.S461C|HTR3E_uc010hxr.2_Missense_Mutation_p.S472C|HTR3E_uc003fmn.2_Missense_Mutation_p.S446C	p.S446C	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1803	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		446			Helical; Name=4; (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.1337C>G	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	c	13.43	2.235435	0.39498	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	4.07	2.21	0.28008	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.236452	0.27088	U	0.020997	D	0.88862	0.6552	M	0.82630	2.6	0.09310	N	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.947;0.992;0.986;0.986;0.986	T	0.78492	-0.2183	10	0.38643	T	0.18	.	6.9634	0.24610	0.0:0.7944:0.0:0.2056	.	472;446;446;461;431	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	C	446;431;461;446;472	ENSP00000401444:S446C;ENSP00000401900:S431C;ENSP00000335511:S461C;ENSP00000395833:S446C;ENSP00000406050:S472C	ENSP00000335511:S461C	S	+	2	0	HTR3E	185307141	0.019000	0.18553	0.407000	0.26434	0.816000	0.46133	0.455000	0.21843	0.437000	0.26423	0.655000	0.94253	TCT		0.592	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1		NM_182589		32	83	0	0	0	0.010818	0	32	83		
LPP	4026	broad.mit.edu	37	3	188327169	188327169	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:188327169C>T	ENST00000312675.4	+	6	896	c.650C>T	c.(649-651)tCa>tTa	p.S217L	LPP_ENST00000448637.1_Missense_Mutation_p.S217L|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.S217L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	217	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCACTTCTTCAAGGCCTACC	0.592			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1		NaN		Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	0				soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(649-651)TCA>TTA		LIM domain containing preferred translocation							75.0	76.0	76.0					3																	188327169		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327169C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.650C>T	3.37:g.188327169C>T	ENSP00000318089:p.Ser217Leu					LPP_uc011bsg.1_Missense_Mutation_p.S217L|LPP_uc011bsi.1_Missense_Mutation_p.S217L|LPP_uc003frt.2_Missense_Mutation_p.S217L|LPP_uc011bsj.1_Missense_Mutation_p.S54L	p.S217L	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	896	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	217			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.650C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646872	0.67358	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.60171	1.67;0.21;0.21;1.24	5.53	5.53	0.82687	.	0.150309	0.53938	D	0.000046	T	0.56307	0.1976	L	0.29908	0.895	0.52501	D	0.999951	B;D;B	0.61080	0.061;0.989;0.232	B;P;B	0.53861	0.056;0.736;0.108	T	0.50389	-0.8834	10	0.29301	T	0.29	.	13.7735	0.63039	0.0:0.7462:0.2538:0.0	.	217;217;217	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	L	217;217;217;54	ENSP00000393602:S217L;ENSP00000318089:S217L;ENSP00000438891:S217L;ENSP00000393008:S54L	ENSP00000318089:S217L	S	+	2	0	LPP	189809863	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.314000	0.51943	2.775000	0.95449	0.650000	0.86243	TCA		0.592	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1		NM_005578		12	91	0	0	0	0.010729	0	12	91		
GP5	2814	broad.mit.edu	37	3	194117344	194117344	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:194117344C>T	ENST00000401815.1	-	1	1739	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	GP5_ENST00000323007.3_Silent_p.E556E			P40197	GPV_HUMAN	glycoprotein V (platelet)	556					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CAAGGGCTCTCTCTCTGATTA	0.443																																						uc003ftv.1		NaN																	0				skin(2)|breast(1)	3						c.(1666-1668)GAG>GAA		glycoprotein V (platelet) precursor							93.0	110.0	104.0					3																	194117344		2201	4289	6490	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117344C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1668G>A	3.37:g.194117344C>T							p.E556E	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	1699	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	556			Cytoplasmic (Potential).		D1MER9	Silent	SNP	ENST00000401815.1	37	c.1668G>A	CCDS3307.1																																																																																				0.443	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1		NM_004488		38	186	0	0	0	0.006999	0	38	186		
CPLX1	10815	broad.mit.edu	37	4	780459	780459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:780459C>T	ENST00000304062.6	-	4	466	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	79					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCCTCGGCCTCGCGCTCCTCC	0.756																																						uc003gbi.2		NaN																	0					0						c.(235-237)GAG>AAG		complexin 1							26.0	32.0	30.0					4																	780459		2162	4273	6435	SO:0001583	missense	10815				glutamate secretion	cytosol		g.chr4:780459C>T	AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.235G>A	4.37:g.780459C>T	ENSP00000305613:p.Glu79Lys					CPLX1_uc003gbj.2_Missense_Mutation_p.E58K	p.E79K	NM_006651	NP_006642	O14810	CPLX1_HUMAN		Colorectal(103;0.187)	4	426	-			79					A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	ENST00000304062.6	37	c.235G>A	CCDS46995.1	.	.	.	.	.	.	.	.	.	.	c	29.9	5.042366	0.93685	.	.	ENSG00000168993	ENST00000304062;ENST00000505203;ENST00000504062;ENST00000513195	.	.	.	3.48	3.48	0.39840	.	.	.	.	.	T	0.75953	0.3920	M	0.78456	2.415	0.58432	D	0.999999	D;D	0.61080	0.989;0.989	D;D	0.71656	0.974;0.974	T	0.75596	-0.3263	8	0.33141	T	0.24	.	12.4885	0.55886	0.0:1.0:0.0:0.0	.	58;79	D6RI11;O14810	.;CPLX1_HUMAN	K	79;58;64;162	.	ENSP00000305613:E79K	E	-	1	0	CPLX1	770459	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	5.518000	0.67068	1.773000	0.52216	0.506000	0.49869	GAG		0.756	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358830.1				13	13	0	0	0	0.001855	0	13	13		
TMEM175	84286	broad.mit.edu	37	4	947001	947001	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:947001C>A	ENST00000264771.4	+	8	671	c.486C>A	c.(484-486)ttC>ttA	p.F162L	TMEM175_ENST00000515740.1_Missense_Mutation_p.F46L|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.F80L	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	162						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTACGCATTCCACTTCCCGC	0.657																																						uc003gbq.2		NaN																	0					0						c.(484-486)TTC>TTA		transmembrane protein 175							101.0	82.0	88.0					4																	947001		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:947001C>A	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.486C>A	4.37:g.947001C>A	ENSP00000264771:p.Phe162Leu					TMEM175_uc010ibl.1_Missense_Mutation_p.F162L|TMEM175_uc003gbp.1_Missense_Mutation_p.F80L|TMEM175_uc003gbr.2_Missense_Mutation_p.F80L|TMEM175_uc003gbu.2_Missense_Mutation_p.F80L|TMEM175_uc003gbs.2_Missense_Mutation_p.F45L|TMEM175_uc003gbt.2_Missense_Mutation_p.F45L|TMEM175_uc003gbv.2_Missense_Mutation_p.F45L|TMEM175_uc010ibm.2_Intron	p.F162L	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	584	+			162					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.486C>A	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	c	9.790	1.177772	0.21787	.	.	ENSG00000127419	ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.46819	1.5;0.98;1.38;0.86	4.71	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	M	0.65498	2.005	0.45046	D	0.998068	B;B;B	0.17268	0.002;0.002;0.021	B;B;B	0.12156	0.002;0.003;0.007	T	0.17107	-1.0380	10	0.21014	T	0.42	-11.3666	8.9993	0.36072	0.0:0.7214:0.0:0.2786	.	80;162;80	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	L	162;149;80;80;68;46;80;80	ENSP00000264771:F162L;ENSP00000425181:F149L;ENSP00000427039:F46L;ENSP00000423669:F80L	ENSP00000264771:F162L	F	+	3	2	TMEM175	937001	1.000000	0.71417	0.956000	0.39512	0.085000	0.17905	1.152000	0.31663	0.078000	0.16900	-1.243000	0.01532	TTC		0.657	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2		NM_032326		4	25	1	0	0.00909568	0.009096	0.00918149	4	25		
EVC	2121	broad.mit.edu	37	4	5749989	5749989	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:5749989G>T	ENST00000264956.6	+	8	1238	c.1054G>T	c.(1054-1056)Gca>Tca	p.A352S	EVC_ENST00000382674.2_Missense_Mutation_p.A352S|EVC_ENST00000509451.1_Missense_Mutation_p.A352S	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	352					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAGAATGATTGCAGCCGAAGG	0.488																																						uc003gil.1		NaN																	0				ovary(1)|skin(1)	2						c.(1054-1056)GCA>TCA		Ellis van Creveld syndrome protein							80.0	78.0	79.0					4																	5749989		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5749989G>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1054G>T	4.37:g.5749989G>T	ENSP00000264956:p.Ala352Ser					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Missense_Mutation_p.Q472K	p.A352S	NM_153717	NP_714928	P57679	EVC_HUMAN			8	1238	+		Myeloproliferative disorder(84;0.117)	352						Missense_Mutation	SNP	ENST00000264956.6	37	c.1054G>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873613	0.33069	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.53857	0.6;0.6;0.67	5.09	1.93	0.25924	.	0.942601	0.08969	N	0.867501	T	0.44393	0.1291	L	0.56769	1.78	0.09310	N	1	B	0.29646	0.253	B	0.25291	0.059	T	0.29336	-1.0015	10	0.11485	T	0.65	.	9.5354	0.39220	0.285:0.0:0.715:0.0	.	352	P57679	EVC_HUMAN	S	352	ENSP00000264956:A352S;ENSP00000372120:A352S;ENSP00000426774:A352S	ENSP00000264956:A352S	A	+	1	0	EVC	5800890	0.018000	0.18449	0.000000	0.03702	0.053000	0.15095	0.328000	0.19681	0.542000	0.28846	0.609000	0.83330	GCA		0.488	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1				25	11	1	0	1.42536e-11	0.004656	1.52768e-11	25	11		
DRD5	1816	broad.mit.edu	37	4	9783854	9783854	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:9783854G>A	ENST00000304374.2	+	1	597	c.201G>A	c.(199-201)cgG>cgA	p.R67R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	67					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCATCGTGCGGAGCCGCCACC	0.647																																						uc003gmb.3		NaN																	0				skin(1)	1						c.(199-201)CGG>CGA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						34.0	28.0	30.0					4																	9783854		2202	4300	6502	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783854G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.201G>A	4.37:g.9783854G>A							p.R67R	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	597	+			67			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.201G>A	CCDS3405.1																																																																																				0.647	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1				10	8	0	0	0	0.008291	0	10	8		
DRD5	1816	broad.mit.edu	37	4	9783920	9783920	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:9783920C>T	ENST00000304374.2	+	1	663	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	89					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CAGACCTTTTCGTGGCGCTGC	0.632																																						uc003gmb.3		NaN																	0				skin(1)	1						c.(265-267)TTC>TTT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						54.0	48.0	50.0					4																	9783920		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783920C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.267C>T	4.37:g.9783920C>T							p.F89F	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	663	+			89			Helical; Name=2; (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.267C>T	CCDS3405.1																																																																																				0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1				19	17	0	0	0	0.008871	0	19	17		
LDB2	9079	broad.mit.edu	37	4	16590352	16590352	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:16590352C>G	ENST00000304523.5	-	4	835	c.512G>C	c.(511-513)aGa>aCa	p.R171T	LDB2_ENST00000503178.2_Missense_Mutation_p.R47T|LDB2_ENST00000515064.1_Missense_Mutation_p.R171T|LDB2_ENST00000441778.2_Missense_Mutation_p.R171T|LDB2_ENST00000502640.1_Missense_Mutation_p.R171T|LDB2_ENST00000503829.1_5'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	171					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TAGGATGCTTCTCGGGACTAA	0.393																																						uc003goz.2		NaN																	0					0						c.(511-513)AGA>ACA		LIM domain binding 2 isoform a							192.0	170.0	177.0					4																	16590352		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16590352C>G	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.512G>C	4.37:g.16590352C>G	ENSP00000306772:p.Arg171Thr					LDB2_uc003gpa.2_Missense_Mutation_p.R171T|LDB2_uc003gpb.2_Missense_Mutation_p.R171T|LDB2_uc011bxh.1_Missense_Mutation_p.R171T|LDB2_uc010iee.2_Missense_Mutation_p.R171T|LDB2_uc003goy.2_Missense_Mutation_p.R47T|LDB2_uc011bxi.1_Missense_Mutation_p.R47T	p.R171T	NM_001290	NP_001281	O43679	LDB2_HUMAN			4	828	-			171					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.512G>C	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.780322|4.780322	0.90195|0.90195	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178;ENST00000506732	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.84211|0.84211	0.5422|0.5422	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.985;1.0;0.992;0.999;0.996;0.995	.|D;D;D;D;D;D;D	.|0.91635	.|0.999;0.966;0.992;0.939;0.979;0.998;0.996	D|D	0.86438|0.86438	0.1765|0.1765	5|9	.|0.87932	.|D	.|0	-12.9206|-12.9206	18.4277|18.4277	0.90614|0.90614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|47;137;171;171;171;171;147	.|B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.|.;.;.;.;.;LDB2_HUMAN;.	Q|T	93|171;171;171;171;47;147	.|.	.|ENSP00000306772:R171T	E|R	-|-	1|2	0|0	LDB2|LDB2	16199450|16199450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.672000|2.672000	0.90937|0.90937	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.393	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2				6	62	0	0	0	0.001168	0	6	62		
ATP10D	57205	broad.mit.edu	37	4	47583998	47583998	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:47583998G>A	ENST00000273859.3	+	21	3939	c.3670G>A	c.(3670-3672)Gac>Aac	p.D1224N	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1224					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTCAGATACTGACATCTTTGC	0.463																																						uc003gxk.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(3670-3672)GAC>AAC		ATPase, class V, type 10D							231.0	206.0	215.0					4																	47583998		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47583998G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3670G>A	4.37:g.47583998G>A	ENSP00000273859:p.Asp1224Asn					ATP10D_uc003gxl.1_Missense_Mutation_p.D472N	p.D1224N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			21	3834	+			1224			Extracellular (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3670G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254314	0.59212	.	.	ENSG00000145246	ENST00000273859	T	0.50001	0.76	5.01	5.01	0.66863	.	0.571337	0.18963	N	0.126336	T	0.59797	0.2220	M	0.81614	2.55	0.80722	D	1	D	0.55385	0.971	P	0.48524	0.58	T	0.62992	-0.6736	10	0.37606	T	0.19	-11.1876	17.4858	0.87688	0.0:0.0:1.0:0.0	.	1224	Q9P241	AT10D_HUMAN	N	1224	ENSP00000273859:D1224N	ENSP00000273859:D1224N	D	+	1	0	ATP10D	47278755	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	5.997000	0.70646	2.616000	0.88540	0.591000	0.81541	GAC		0.463	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453		37	99	0	0	0	0.004878	0	37	99		
UGT2B4	7363	broad.mit.edu	37	4	70359471	70359471	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:70359471G>C	ENST00000305107.6	-	2	856	c.810C>G	c.(808-810)ctC>ctG	p.L270L	UGT2B4_ENST00000512583.1_Silent_p.L270L|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.L134L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	270					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CATTTGGTAAGAGTGGGTGAG	0.433																																						uc003hek.3		NaN																	0				skin(2)	2						c.(808-810)CTC>CTG		UDP glucuronosyltransferase 2B4 precursor							120.0	127.0	125.0					4																	70359471		2195	4299	6494	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70359471G>C	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.810C>G	4.37:g.70359471G>C						UGT2B4_uc011cap.1_Silent_p.L134L|UGT2B4_uc003hel.3_Silent_p.L270L	p.L270L	NM_021139	NP_066962	P06133	UD2B4_HUMAN			2	857	-			270					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.810C>G	CCDS43234.1																																																																																				0.433	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1		NM_021139		8	146	0	0	0	0.006214	0	8	146		
ODAM	54959	broad.mit.edu	37	4	71063726	71063726	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:71063726C>G	ENST00000396094.2	+	4	275	c.227C>G	c.(226-228)tCt>tGt	p.S76C		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	76	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCCAGTTCTCTTTATCAGCT	0.478																																						uc003hfc.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(226-228)TCT>TGT		odontogenic ameloblast-associated protein							188.0	183.0	185.0					4																	71063726		1862	4104	5966	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063726C>G	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.227C>G	4.37:g.71063726C>G	ENSP00000379401:p.Ser76Cys						p.S76C	NM_017855	NP_060325	A1E959	ODAM_HUMAN			4	244	+			76			Gln-rich.		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.227C>G	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	C	9.036	0.988452	0.18966	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.51574	0.7;0.7	4.79	3.93	0.45458	.	.	.	.	.	T	0.55257	0.1909	L	0.39898	1.24	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.43669	-0.9377	9	0.72032	D	0.01	-4.9159	10.0126	0.41995	0.2215:0.7785:0.0:0.0	.	76	A1E959	ODAM_HUMAN	C	76;62;29	ENSP00000379401:S76C;ENSP00000426106:S29C	ENSP00000379401:S76C	S	+	2	0	ODAM	71098315	0.127000	0.22367	0.022000	0.16811	0.006000	0.05464	1.931000	0.40134	1.191000	0.43056	-0.397000	0.06425	TCT		0.478	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1		NM_017855		40	144	0	0	0	0.00623	0	40	144		
NPFFR2	10886	broad.mit.edu	37	4	72994488	72994488	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:72994488G>T	ENST00000308744.6	+	2	584	c.486G>T	c.(484-486)atG>atT	p.M162I	NPFFR2_ENST00000358749.3_Missense_Mutation_p.M60I|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.M63I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	162					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTTGTGCATGATGGGAAATA	0.358																																						uc003hgg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(484-486)ATG>ATT		neuropeptide FF receptor 2 isoform 1							209.0	192.0	198.0					4																	72994488		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72994488G>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.486G>T	4.37:g.72994488G>T	ENSP00000307822:p.Met162Ile					NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.M63I|NPFFR2_uc003hgh.2_Missense_Mutation_p.M60I	p.M162I	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		2	584	+			162			Helical; Name=1; (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.486G>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345561	0.24426	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.32753	1.44;1.44;1.44	5.9	2.7	0.31948	.	0.286363	0.30620	N	0.009235	T	0.21267	0.0512	L	0.37697	1.125	0.54753	D	0.999988	B;B	0.23650	0.028;0.089	B;B	0.17722	0.013;0.019	T	0.04991	-1.0913	10	0.25751	T	0.34	.	9.7253	0.40328	0.1554:0.1184:0.7262:0.0	.	63;162	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	I	162;63;60	ENSP00000307822:M162I;ENSP00000379321:M63I;ENSP00000351599:M60I	ENSP00000307822:M162I	M	+	3	0	NPFFR2	73213352	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	5.593000	0.67550	0.771000	0.33359	-1.132000	0.01976	ATG		0.358	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2		NM_004885		22	136	1	0	3.5997e-14	0.014323	3.89058e-14	22	136		
ALB	213	broad.mit.edu	37	4	74284010	74284010	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:74284010G>A	ENST00000503124.1	+	10	1391	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	ALB_ENST00000401494.3_Missense_Mutation_p.R430K|ALB_ENST00000509063.1_Missense_Mutation_p.R545K|ALB_ENST00000295897.4_Missense_Mutation_p.R545K|ALB_ENST00000415165.2_Missense_Mutation_p.R353K|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGAAGGAGAGACAAATCAAG	0.383																																						uc003hgs.3		NaN																	0				ovary(3)|skin(3)	6						c.(1633-1635)AGA>AAA		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						104.0	101.0	102.0					4																	74284010		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74284010G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1184G>A	4.37:g.74284010G>A	ENSP00000421027:p.Arg395Lys					ALB_uc003hgw.3_Missense_Mutation_p.R353K|ALB_uc011cbe.1_Missense_Mutation_p.R224K|ALB_uc003hgt.3_Missense_Mutation_p.R545K|ALB_uc010iii.2_Missense_Mutation_p.R430K|ALB_uc003hgu.3_Missense_Mutation_p.R395K|ALB_uc003hgv.3_Missense_Mutation_p.R224K|ALB_uc011cbf.1_Missense_Mutation_p.R435K|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.R224K	p.R545K	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1707	+	Breast(15;0.00102)		545			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1634G>A		.	.	.	.	.	.	.	.	.	.	G	0.011	-1.723291	0.00700	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.94	3.51	0.40186	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.499787	0.21127	N	0.079707	T	0.32823	0.0842	N	0.00652	-1.29	0.09310	N	1	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.004;0.0	B;B;B;B;B	0.21708	0.0;0.0;0.0;0.036;0.0	T	0.38178	-0.9673	10	0.02654	T	1	-10.5425	8.6275	0.33899	0.8345:0.0:0.1655:0.0	.	430;353;395;545;545	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	K	545;353;332;395;545;430;554	ENSP00000295897:R545K;ENSP00000401820:R353K;ENSP00000421027:R395K;ENSP00000422784:R545K;ENSP00000384695:R430K	ENSP00000295897:R545K	R	+	2	0	ALB	74502874	0.006000	0.16342	0.012000	0.15200	0.199000	0.23934	1.807000	0.38902	0.501000	0.28013	-0.247000	0.11927	AGA		0.383	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1		NM_000477		20	39	0	0	0	0.007413	0	20	39		
AGPAT9	84803	broad.mit.edu	37	4	84457852	84457852	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:84457852C>T	ENST00000395226.2	+	2	295	c.77C>T	c.(76-78)tCg>tTg	p.S26L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.S26L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	26					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTTTACCTTCGGTCTTCGGA	0.582																																						uc003how.2		NaN																	0				skin(1)	1						c.(76-78)TCG>TTG		1-acylglycerol-3-phosphate O-acyltransferase 9							82.0	66.0	72.0					4																	84457852		2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84457852C>T	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.77C>T	4.37:g.84457852C>T	ENSP00000378651:p.Ser26Leu					AGPAT9_uc003hox.2_Missense_Mutation_p.S26L|AGPAT9_uc003hoy.2_Missense_Mutation_p.S26L	p.S26L	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN			2	295	+		Hepatocellular(203;0.114)	26			Helical; (Potential).		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.77C>T	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762497	0.49574	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.46063	0.88;0.88	4.68	4.68	0.58851	.	0.246616	0.33572	N	0.004767	T	0.34919	0.0914	L	0.54908	1.71	0.41541	D	0.98851	P	0.47545	0.897	B	0.30943	0.122	T	0.49943	-0.8885	10	0.72032	D	0.01	-8.2298	16.4381	0.83884	0.0:1.0:0.0:0.0	.	26	Q53EU6	GPAT3_HUMAN	L	26	ENSP00000378651:S26L;ENSP00000264409:S26L	ENSP00000264409:S26L	S	+	2	0	AGPAT9	84676876	0.984000	0.35163	0.985000	0.45067	0.115000	0.19883	5.010000	0.64004	2.166000	0.68216	0.456000	0.33151	TCG		0.582	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3		NM_032717		5	24	0	0	0	0.001168	0	5	24		
HSD17B13	345275	broad.mit.edu	37	4	88238288	88238288	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:88238288C>T	ENST00000328546.4	-	3	470	c.406G>A	c.(406-408)Gag>Aag	p.E136K	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.E100K	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	136						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTGGTAATCTCTTCATCCTTG	0.403																																						uc003hqo.2		NaN																	0					0						c.(406-408)GAG>AAG		hydroxysteroid (17-beta) dehydrogenase 13							156.0	145.0	149.0					4																	88238288		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88238288C>T		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.406G>A	4.37:g.88238288C>T	ENSP00000333300:p.Glu136Lys					HSD17B13_uc010ikk.2_Missense_Mutation_p.E100K	p.E136K	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	3	469	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	136					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.406G>A	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682790	0.29872	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.87809	-2.3;-2.3	4.93	3.08	0.35506	NAD(P)-binding domain (1);	0.171432	0.40064	N	0.001194	T	0.81673	0.4872	L	0.45051	1.395	0.28365	N	0.920262	P;P	0.38129	0.619;0.475	B;B	0.44044	0.406;0.439	T	0.70317	-0.4905	10	0.11485	T	0.65	.	7.8339	0.29360	0.0:0.5828:0.3225:0.0948	.	100;136	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	K	100;136	ENSP00000305438:E100K;ENSP00000333300:E136K	ENSP00000305438:E100K	E	-	1	0	HSD17B13	88457312	0.896000	0.30565	0.528000	0.27938	0.594000	0.36715	1.349000	0.33998	1.429000	0.47314	0.650000	0.86243	GAG		0.403	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1		NM_178135		39	57	0	0	0	0.004289	0	39	57		
EIF4E	1977	broad.mit.edu	37	4	99802262	99802262	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:99802262G>C	ENST00000450253.2	-	7	2095	c.571C>G	c.(571-573)Cca>Gca	p.P191A	EIF4E_ENST00000505992.1_Missense_Mutation_p.P222A|EIF4E_ENST00000280892.6_Missense_Mutation_p.P211A|EIF4E_ENST00000504432.1_Missense_Mutation_p.P219A	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	191					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		ACTATCTTTGGAGGAAGTCCT	0.363																																						uc003hue.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(571-573)CCA>GCA		eukaryotic translation initiation factor 4E							42.0	45.0	44.0					4																	99802262		2201	4300	6501	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99802262G>C	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.571C>G	4.37:g.99802262G>C	ENSP00000389624:p.Pro191Ala					EIF4E_uc011cea.1_Missense_Mutation_p.P211A|EIF4E_uc011ceb.1_Missense_Mutation_p.P222A	p.P191A	NM_001968	NP_001959	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	7	2094	-			191					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.571C>G	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	G	4.487	0.090313	0.08632	.	.	ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992	T;T;T;T	0.43688	0.94;0.94;0.94;0.98	5.81	5.81	0.92471	Translation Initiation factor eIF- 4e-like  domain (2);	0.439260	0.26680	N	0.023041	T	0.32704	0.0838	L	0.31120	0.905	0.45194	D	0.998205	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.05989	-1.0852	10	0.23891	T	0.37	-13.3198	15.5406	0.76043	0.0:0.1374:0.8626:0.0	.	222;211;191	P06730-2;B7Z6V1;P06730	.;.;IF4E_HUMAN	A	191;211;219;222	ENSP00000389624:P191A;ENSP00000280892:P211A;ENSP00000423977:P219A;ENSP00000425561:P222A	ENSP00000280892:P211A	P	-	1	0	EIF4E	100021285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.993000	0.49425	2.761000	0.94854	0.585000	0.79938	CCA		0.363	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1		NM_001968		9	37	0	0	0	0.008291	0	9	37		
ANK2	287	broad.mit.edu	37	4	114276668	114276668	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:114276668G>A	ENST00000357077.4	+	38	6947	c.6894G>A	c.(6892-6894)gaG>gaA	p.E2298E	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.E2265E|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2298					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGTCACTGAGGACTCAGAGA	0.488																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(6892-6894)GAG>GAA		ankyrin 2 isoform 1							39.0	41.0	40.0					4																	114276668		2203	4299	6502	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114276668G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6894G>A	4.37:g.114276668G>A						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.E2313E	p.E2298E	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6994	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2265					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.6894G>A	CCDS3702.1																																																																																				0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		11	30	0	0	0	0.008291	0	11	30		
NUDT6	11162	broad.mit.edu	37	4	123843692	123843692	+	Silent	SNP	C	C	G	rs531826449		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:123843692C>G	ENST00000304430.5	-	1	69	c.36G>C	c.(34-36)gcG>gcC	p.A12A	NUDT6_ENST00000339154.2_Intron|SPATA5_ENST00000274008.4_5'Flank	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	12						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GGGCAAGCATCGCGCGCCAGC	0.692																																						uc003iew.2		NaN																	0					0						c.(34-36)GCG>GCC		nudix-type motif 6 isoform a							13.0	15.0	15.0					4																	123843692		1888	4045	5933	SO:0001819	synonymous_variant	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123843692C>G	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.36G>C	4.37:g.123843692C>G						SPATA5_uc003iey.2_5'Flank|SPATA5_uc003iez.3_5'Flank|NUDT6_uc003iex.2_Intron	p.A12A	NM_007083	NP_009014	P53370	NUDT6_HUMAN			1	68	-			12					A8K756|O95097|Q9UQD9	Silent	SNP	ENST00000304430.5	37	c.36G>C	CCDS43268.1																																																																																				0.692	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3		NM_007083		7	20	0	0	0	0.001984	0	7	20		
TIGD4	201798	broad.mit.edu	37	4	153691640	153691640	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:153691640C>A	ENST00000304337.2	-	2	1337	c.517G>T	c.(517-519)Gat>Tat	p.D173Y		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	173						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GGATGATAATCATTTAAATAA	0.353																																						uc003imy.2		NaN																	0				ovary(1)	1						c.(517-519)GAT>TAT		tigger transposable element derived 4							35.0	38.0	37.0					4																	153691640		2172	4288	6460	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691640C>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.517G>T	4.37:g.153691640C>A	ENSP00000355162:p.Asp173Tyr						p.D173Y	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	1299	-	all_hematologic(180;0.093)		173					Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.517G>T	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163301	0.38217	.	.	ENSG00000169989	ENST00000304337	T	0.15952	2.38	5.7	5.7	0.88788	.	0.000000	0.46145	D	0.000301	T	0.37571	0.1008	M	0.69823	2.125	0.43199	D	0.995045	D	0.61697	0.99	P	0.56700	0.804	T	0.01212	-1.1417	10	0.33940	T	0.23	-28.5772	19.8349	0.96652	0.0:1.0:0.0:0.0	.	173	Q8IY51	TIGD4_HUMAN	Y	173	ENSP00000355162:D173Y	ENSP00000355162:D173Y	D	-	1	0	TIGD4	153911090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.463000	0.66712	2.861000	0.98227	0.655000	0.94253	GAT		0.353	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1		NM_145720		34	72	1	0	8.88839e-20	0.010818	9.72121e-20	34	72		
TIGD4	201798	broad.mit.edu	37	4	153691892	153691892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:153691892C>A	ENST00000304337.2	-	2	1085	c.265G>T	c.(265-267)Gag>Tag	p.E89*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	89	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ATTAATGCCTCTTCCAGATCT	0.363																																						uc003imy.2		NaN																	0				ovary(1)	1						c.(265-267)GAG>TAG		tigger transposable element derived 4							108.0	102.0	104.0					4																	153691892		2203	4300	6503	SO:0001587	stop_gained	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691892C>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.265G>T	4.37:g.153691892C>A	ENSP00000355162:p.Glu89*						p.E89*	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	1047	-	all_hematologic(180;0.093)		89			HTH CENPB-type.		Q96LP5	Nonsense_Mutation	SNP	ENST00000304337.2	37	c.265G>T	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	42	9.537758	0.99199	.	.	ENSG00000169989	ENST00000304337	.	.	.	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-22.8773	11.1067	0.48207	0.0:0.8628:0.0:0.1372	.	.	.	.	X	89	.	ENSP00000355162:E89X	E	-	1	0	TIGD4	153911342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.676000	0.46883	2.941000	0.99782	0.655000	0.94253	GAG		0.363	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1		NM_145720		53	122	1	0	4.37618e-36	0.01441	4.80258e-36	53	122		
TIGD4	201798	broad.mit.edu	37	4	153691920	153691920	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:153691920C>T	ENST00000304337.2	-	2	1057	c.237G>A	c.(235-237)ctG>ctA	p.L79L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	79	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AAGCAGTTCTCAGTCTTTTTC	0.338																																						uc003imy.2		NaN																	0				ovary(1)	1						c.(235-237)CTG>CTA		tigger transposable element derived 4							84.0	80.0	81.0					4																	153691920		2203	4300	6503	SO:0001819	synonymous_variant	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691920C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.237G>A	4.37:g.153691920C>T							p.L79L	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	1019	-	all_hematologic(180;0.093)		79			HTH CENPB-type.		Q96LP5	Silent	SNP	ENST00000304337.2	37	c.237G>A	CCDS34079.1																																																																																				0.338	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1		NM_145720		44	102	0	0	0	0.007835	0	44	102		
LRAT	9227	broad.mit.edu	37	4	155665889	155665889	+	Silent	SNP	C	C	G	rs572457198		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:155665889C>G	ENST00000336356.3	+	2	664	c.411C>G	c.(409-411)ctC>ctG	p.L137L	LRAT_ENST00000507827.1_Silent_p.L137L	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	137					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	AGGCACTGCTCAACGAGGAGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		16985	0.001		0.0	False		,,,				2504	0.0					uc003iom.1		NaN																	0				central_nervous_system(1)	1						c.(409-411)CTC>CTG		lecithin retinol acyltransferase	Vitamin A(DB00162)						58.0	62.0	61.0					4																	155665889		2203	4300	6503	SO:0001819	synonymous_variant	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665889C>G	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.411C>G	4.37:g.155665889C>G						uc003iol.2_Intron|LRAT_uc003ion.1_Silent_p.L137L	p.L137L	NM_004744	NP_004735	O95237	LRAT_HUMAN			1	738	+	all_hematologic(180;0.215)	Renal(120;0.0458)	137			Cytoplasmic (By similarity).		A8K983|Q8N716	Silent	SNP	ENST00000336356.3	37	c.411C>G	CCDS3789.1																																																																																				0.577	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1		NM_004744		21	32	0	0	0	0.012319	0	21	32		
TENM3	55714	broad.mit.edu	37	4	183267846	183267846	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:183267846C>A	ENST00000511685.1	+	3	398	c.275C>A	c.(274-276)gCa>gAa	p.A92E	TENM3_ENST00000406950.2_Missense_Mutation_p.A92E			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	92	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTGAACCAGCAACTCGAAGA	0.428																																						uc003ivd.1		NaN																	0					0						c.(274-276)GCA>GAA		odz, odd Oz/ten-m homolog 3							57.0	55.0	55.0					4																	183267846		1858	4094	5952	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183267846C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.275C>A	4.37:g.183267846C>A	ENSP00000424226:p.Ala92Glu					ODZ3_uc010irv.1_Missense_Mutation_p.A92E	p.A92E	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	2	312	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	92			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.275C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528484	0.64860	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.30448	1.53;1.53;1.53	5.15	4.31	0.51392	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.35098	0.0920	L	0.44542	1.39	0.34574	D	0.713785	P;B	0.44521	0.837;0.001	P;B	0.46543	0.52;0.002	T	0.52518	-0.8565	9	0.54805	T	0.06	.	15.3033	0.73972	0.1409:0.8591:0.0:0.0	.	92;92	D6RGC5;Q9P273	.;TEN3_HUMAN	E	92	ENSP00000421320:A92E;ENSP00000424226:A92E;ENSP00000385276:A92E	ENSP00000385276:A92E	A	+	2	0	ODZ3	183504840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.485000	0.60279	1.400000	0.46741	0.563000	0.77884	GCA		0.428	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				17	17	1	0	5.03518e-11	0.007413	5.38765e-11	17	17		
PDLIM3	27295	broad.mit.edu	37	4	186423477	186423477	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:186423477C>T	ENST00000284770.5	-	8	1139	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	PDLIM3_ENST00000284771.6_Missense_Mutation_p.D308N|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	356					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GTGACCGTGTCATAGCCCTCT	0.557																																						uc003ixw.3		NaN																	0				ovary(2)	2						c.(1066-1068)GAC>AAC		PDZ and LIM domain protein 3 isoform a							99.0	94.0	96.0					4																	186423477		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186423477C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.1066G>A	4.37:g.186423477C>T	ENSP00000284770:p.Asp356Asn					PDLIM3_uc003ixx.3_Missense_Mutation_p.D308N|PDLIM3_uc010isi.2_RNA	p.D356N	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	8	1190	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	356					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.1066G>A	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127620	0.94473	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.41758	0.99;1.99	5.37	5.37	0.77165	.	0.085279	0.85682	D	0.000000	T	0.63510	0.2517	M	0.75264	2.295	0.80722	D	1	D;P	0.61697	0.99;0.923	P;P	0.59825	0.864;0.535	T	0.66748	-0.5845	10	0.72032	D	0.01	-25.8782	19.4725	0.94969	0.0:1.0:0.0:0.0	.	308;356	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	N	356;308	ENSP00000284770:D356N;ENSP00000284771:D308N	ENSP00000284770:D356N	D	-	1	0	PDLIM3	186660471	1.000000	0.71417	0.935000	0.37517	0.432000	0.31715	7.776000	0.85560	2.689000	0.91719	0.462000	0.41574	GAC		0.557	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2		NM_014476		45	86	0	0	0	0.011902	0	45	86		
ADAMTS16	170690	broad.mit.edu	37	5	5237174	5237174	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:5237174G>A	ENST00000274181.7	+	14	2254	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	706	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCATGCTCGGAGGATAGCCG	0.378																																						uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2116-2118)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							142.0	133.0	135.0					5																	5237174		1894	4121	6015	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237174G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2116G>A	5.37:g.5237174G>A	ENSP00000274181:p.Glu706Lys					ADAMTS16_uc003jdk.1_Missense_Mutation_p.E706K|ADAMTS16_uc010itk.1_Intron	p.E706K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2254	+			706			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2116G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388323	0.42308	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.59224	0.28	5.73	4.86	0.63082	.	0.136910	0.48767	D	0.000165	T	0.41994	0.1183	L	0.33668	1.02	0.43930	D	0.996585	P;B	0.45126	0.851;0.169	B;B	0.37550	0.253;0.083	T	0.28964	-1.0027	10	0.11485	T	0.65	.	13.7774	0.63062	0.0751:0.0:0.9248:0.0	.	706;706	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	K	706	ENSP00000274181:E706K	ENSP00000274181:E706K	E	+	1	0	ADAMTS16	5290174	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.730000	0.26043	1.425000	0.47237	0.655000	0.94253	GAG		0.378	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		23	93	0	0	0	0.003954	0	23	93		
PAPD7	11044	broad.mit.edu	37	5	6750570	6750570	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:6750570C>T	ENST00000230859.6	+	10	1193	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	585					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCCTGTCTTCAGGCTCCTCG	0.572																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1		NaN																	0				ovary(1)	1						c.(1063-1065)TCA>TTA		DNA polymerase sigma							83.0	74.0	77.0					5																	6750570		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6750570C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1064C>T	5.37:g.6750570C>T	ENSP00000230859:p.Ser355Leu					PAPD7_uc011cmn.1_Missense_Mutation_p.S346L|PAPD7_uc010itl.1_Missense_Mutation_p.S175L	p.S355L	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			10	1193	+			355			Ser-rich.		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1064C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493356	0.26774	.	.	ENSG00000112941	ENST00000230859	T	0.38401	1.14	5.27	4.41	0.53225	.	0.357067	0.29403	N	0.012254	T	0.31979	0.0814	L	0.47716	1.5	0.25495	N	0.98761	P;P	0.43750	0.816;0.816	B;B	0.39706	0.307;0.307	T	0.16247	-1.0409	10	0.48119	T	0.1	-2.3766	11.8923	0.52637	0.0:0.9184:0.0:0.0816	.	355;355	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	L	355	ENSP00000230859:S355L	ENSP00000230859:S355L	S	+	2	0	PAPD7	6803570	0.907000	0.30839	0.031000	0.17742	0.009000	0.06853	3.924000	0.56476	1.229000	0.43630	-0.258000	0.10820	TCA		0.572	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1		NM_006999		11	54	0	0	0	0.008291	0	11	54		
DNAH5	1767	broad.mit.edu	37	5	13919382	13919382	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:13919382C>G	ENST00000265104.4	-	7	982	c.878G>C	c.(877-879)aGa>aCa	p.R293T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	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)					CTTGGAGAGTCTTTTTTTCCA	0.517									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(877-879)AGA>ACA		dynein, axonemal, heavy chain 5							146.0	157.0	153.0					5																	13919382		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.chr5:13919382C>G	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.878G>C	5.37:g.13919382C>G	ENSP00000265104:p.Arg293Thr					DNAH5_uc003jfe.1_RNA	p.R293T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			7	920	-	Lung NSC(4;0.00476)		293			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.878G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.306354	0.81247	.	.	ENSG00000039139	ENST00000265104	T	0.59502	0.26	5.5	5.5	0.81552	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.80110	0.4563	M	0.91510	3.215	0.54753	D	0.999986	D	0.71674	0.998	D	0.76071	0.987	D	0.83892	0.0285	10	0.66056	D	0.02	.	13.6849	0.62511	0.0:0.9234:0.0:0.0765	.	293	Q8TE73	DYH5_HUMAN	T	293	ENSP00000265104:R293T	ENSP00000265104:R293T	R	-	2	0	DNAH5	13972382	0.996000	0.38824	0.421000	0.26609	0.924000	0.55760	4.903000	0.63272	2.593000	0.87608	0.491000	0.48974	AGA		0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		31	202	0	0	0	0.009535	0	31	202		
CARD6	84674	broad.mit.edu	37	5	40852632	40852632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:40852632C>T	ENST00000254691.5	+	3	1397	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	400					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAACATGTATCAGTGCCAGTT	0.453																																						uc003jmg.2		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(1198-1200)CAG>TAG		caspase recruitment domain family, member 6							76.0	72.0	73.0					5																	40852632		2203	4300	6503	SO:0001587	stop_gained	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852632C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1198C>T	5.37:g.40852632C>T	ENSP00000254691:p.Gln400*						p.Q400*	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1273	+			400					Q52LR2	Nonsense_Mutation	SNP	ENST00000254691.5	37	c.1198C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	37	6.052246	0.97236	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	.	.	.	5.49	4.56	0.56223	.	0.987983	0.08245	N	0.975519	.	.	.	.	.	.	0.19575	N	0.999962	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.1522	13.3199	0.60426	0.167:0.833:0.0:0.0	.	.	.	.	X	400	.	ENSP00000254691:Q400X	Q	+	1	0	CARD6	40888389	0.064000	0.20934	0.366000	0.25914	0.990000	0.78478	1.794000	0.38774	2.865000	0.98341	0.655000	0.94253	CAG		0.453	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3				23	47	0	0	0	0.014323	0	23	47		
IL31RA	133396	broad.mit.edu	37	5	55178994	55178994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:55178994C>T	ENST00000447346.2	+	5	642	c.577C>T	c.(577-579)Cga>Tga	p.R193*	IL31RA_ENST00000359040.5_Nonsense_Mutation_p.R193*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.R51*|IL31RA_ENST00000297015.3_Nonsense_Mutation_p.R51*|IL31RA_ENST00000396836.2_Nonsense_Mutation_p.R193*|IL31RA_ENST00000396834.1_Nonsense_Mutation_p.R174*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.R174*	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	161	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATACACACTTCGATTCAGGAC	0.383																																						uc003jql.2		NaN																	0				ovary(1)	1						c.(577-579)CGA>TGA		gp130-like monocyte receptor							89.0	85.0	86.0					5																	55178994		2203	4300	6503	SO:0001587	stop_gained	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55178994C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.577C>T	5.37:g.55178994C>T	ENSP00000415900:p.Arg193*					IL31RA_uc003jqk.2_Nonsense_Mutation_p.R193*|IL31RA_uc011cqj.1_Nonsense_Mutation_p.R51*|IL31RA_uc003jqm.2_Nonsense_Mutation_p.R161*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.R193*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R161*|IL31RA_uc003jqo.2_Nonsense_Mutation_p.R51*	p.R193*	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			5	642	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	161			Extracellular (Potential).|Fibronectin type-III 2.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Nonsense_Mutation	SNP	ENST00000447346.2	37	c.577C>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633747	0.87660	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	.	.	.	5.91	4.97	0.65823	.	27.922000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5003	13.0439	0.58916	0.1711:0.8289:0.0:0.0	.	.	.	.	X	193;174;193;193;51;51;174	.	ENSP00000297015:R51X	R	+	1	2	IL31RA	55214751	0.982000	0.34865	0.898000	0.35279	0.628000	0.37860	1.479000	0.35453	2.799000	0.96334	0.585000	0.79938	CGA		0.383	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1		NM_139017		14	31	0	0	0	0.001855	0	14	31		
MAST4	375449	broad.mit.edu	37	5	66386048	66386048	+	Silent	SNP	A	A	G	rs371008871		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:66386048A>G	ENST00000403625.2	+	6	1117	c.822A>G	c.(820-822)tcA>tcG	p.S274S	MAST4_ENST00000405643.1_Silent_p.S92S|MAST4_ENST00000404260.3_Silent_p.S274S|MAST4_ENST00000403666.1_Silent_p.S85S|MAST4_ENST00000490016.2_Silent_p.S85S|MAST4_ENST00000261569.7_Silent_p.S80S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	274						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCCATTTTTCATTTGCACGGA	0.443																																						uc003jut.1		NaN																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(253-255)TCA>TCG		microtubule associated serine/threonine kinase		C	,	1,3699		0,1,1849	77.0	72.0	73.0		822,255	-1.4	1.0	5		73	0,8190		0,0,4095	no	coding-synonymous,coding-synonymous	MAST4	NM_001164664.1,NM_015183.2	,	0,1,5944	GG,GA,AA		0.0,0.027,0.0084	,	274/2624,85/2435	66386048	1,11889	1850	4095	5945	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66386048A>G	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.822A>G	5.37:g.66386048A>G						MAST4_uc003jus.2_Silent_p.S85S|MAST4_uc003juu.1_Silent_p.S92S|MAST4_uc011cra.1_Silent_p.S65S|MAST4_uc010ixa.2_RNA|MAST4_uc003juv.2_Silent_p.S80S|MAST4_uc003juw.2_Silent_p.S80S	p.S85S	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	5	323	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	274					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.255A>G	CCDS54861.1																																																																																				0.443	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2				9	7	0	0	0	0.010729	0	9	7		
TNPO1	3842	broad.mit.edu	37	5	72192888	72192888	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:72192888G>C	ENST00000337273.5	+	20	2674	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	TNPO1_ENST00000506351.2_Missense_Mutation_p.E742Q|TNPO1_ENST00000454282.1_Missense_Mutation_p.E700Q|TNPO1_ENST00000523768.1_Missense_Mutation_p.E700Q	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	750					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCTAGGTATAGAGATGCAGCC	0.343																																						uc003kck.3		NaN																	0				skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(2248-2250)GAG>CAG		transportin 1 isoform 1							57.0	54.0	55.0					5																	72192888		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72192888G>C	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2248G>C	5.37:g.72192888G>C	ENSP00000336712:p.Glu750Gln					TNPO1_uc011csj.1_Missense_Mutation_p.E700Q|TNPO1_uc003kch.2_Missense_Mutation_p.E742Q|TNPO1_uc003kci.3_Missense_Mutation_p.E742Q|TNPO1_uc003kcg.3_Missense_Mutation_p.E742Q	p.E750Q	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	20	2395	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	750					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.2248G>C	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691859	0.68271	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.047999	0.85682	D	0.000000	T	0.46541	0.1398	M	0.75884	2.315	0.80722	D	1	B;B	0.24823	0.112;0.009	B;B	0.28232	0.087;0.021	T	0.45011	-0.9290	10	0.66056	D	0.02	-15.8971	19.8362	0.96658	0.0:0.0:1.0:0.0	.	700;750	Q92973-3;Q92973	.;TNPO1_HUMAN	Q	750;700;700;742;261	ENSP00000336712:E750Q;ENSP00000398524:E700Q;ENSP00000428899:E700Q;ENSP00000425118:E742Q	ENSP00000336712:E750Q	E	+	1	0	TNPO1	72228644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.439000	0.97543	2.690000	0.91761	0.563000	0.77884	GAG		0.343	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3		NM_002270		16	31	0	0	0	0.00499	0	16	31		
CAST	831	broad.mit.edu	37	5	96086315	96086315	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:96086315C>T	ENST00000341926.3	+	18	1366	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	CAST_ENST00000395813.1_Missense_Mutation_p.P485S|CAST_ENST00000510756.1_Missense_Mutation_p.P463S|CAST_ENST00000508608.1_Missense_Mutation_p.P448S|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508579.1_Missense_Mutation_p.P117S|CAST_ENST00000511782.1_Missense_Mutation_p.P388S|CAST_ENST00000509903.1_Missense_Mutation_p.P367S|CAST_ENST00000515663.1_Missense_Mutation_p.P125S|CAST_ENST00000508830.1_Missense_Mutation_p.P485S|CAST_ENST00000359176.4_Missense_Mutation_p.P466S|CAST_ENST00000395812.2_Missense_Mutation_p.P444S|CAST_ENST00000325674.7_Missense_Mutation_p.P450S|CAST_ENST00000504465.1_Missense_Mutation_p.P330S|CAST_ENST00000309190.5_Missense_Mutation_p.P380S|CAST_ENST00000511049.1_Missense_Mutation_p.P388S|CAST_ENST00000338252.3_Missense_Mutation_p.P389S			P20810	ICAL_HUMAN	calpastatin	402					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGCTCCAGCTCCTGTGTCGGA	0.488																																						uc003klz.1		NaN																	0				central_nervous_system(3)|ovary(1)|kidney(1)	5						c.(1204-1206)CCT>TCT		calpastatin isoform i							80.0	76.0	77.0					5																	96086315		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96086315C>T	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1204C>T	5.37:g.96086315C>T	ENSP00000339914:p.Pro402Ser					CAST_uc003klt.2_Missense_Mutation_p.P389S|CAST_uc003klu.2_Missense_Mutation_p.P485S|CAST_uc003klv.2_Missense_Mutation_p.P463S|CAST_uc003klw.2_Missense_Mutation_p.P466S|CAST_uc003klx.2_Missense_Mutation_p.P444S|CAST_uc003kly.2_Missense_Mutation_p.P450S|CAST_uc011cuo.1_Missense_Mutation_p.P448S|CAST_uc011cuq.1_Missense_Mutation_p.P250S|CAST_uc011cur.1_Missense_Mutation_p.P388S|CAST_uc011cus.1_Missense_Mutation_p.P389S|CAST_uc003kma.1_Missense_Mutation_p.P361S|CAST_uc011cut.1_Missense_Mutation_p.P330S|CAST_uc003kmb.2_Missense_Mutation_p.P348S|CAST_uc003kmc.2_Missense_Mutation_p.P402S|CAST_uc003kmd.2_Missense_Mutation_p.P380S|CAST_uc003kme.2_Missense_Mutation_p.P361S|CAST_uc003kmf.2_Missense_Mutation_p.P367S|CAST_uc003kmh.2_Missense_Mutation_p.P117S|CAST_uc010jbj.2_Missense_Mutation_p.P117S|CAST_uc010jbk.2_Missense_Mutation_p.P117S|CAST_uc010jbl.1_Missense_Mutation_p.P125S|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.P125S	p.P402S	NM_001042443	NP_001035908	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	18	1366	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	402					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.1204C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.08|16.08	3.020904|3.020904	0.54576|0.54576	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000509259;ENST00000515663|ENST00000510500	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.59083|.	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;0.29;2.41|.	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	0.167920|.	0.52532|.	N|.	0.000067|.	T|T	0.57066|0.57066	0.2028|0.2028	M|M	0.73962|0.73962	2.25|2.25	0.09310|0.09310	N|N	1|1	P;D;P;D;P;P;D;D;P;P;D;D;D;P;P;D;P|.	0.89917|.	0.923;0.992;0.94;0.999;0.868;0.94;0.985;0.985;0.84;0.906;1.0;0.965;1.0;0.937;0.926;1.0;0.84|.	P;P;P;D;P;P;D;P;P;P;D;P;D;P;P;D;P|.	0.97110|.	0.755;0.902;0.7;0.996;0.85;0.719;0.94;0.902;0.641;0.641;1.0;0.758;0.999;0.758;0.574;0.999;0.641|.	T|T	0.50931|0.50931	-0.8769|-0.8769	10|5	0.27785|.	T|.	0.31|.	-4.0824|-4.0824	10.3532|10.3532	0.43948|0.43948	0.0:0.9088:0.0:0.0912|0.0:0.9088:0.0:0.0912	.|.	330;250;448;125;153;125;388;367;380;361;402;450;444;466;463;485;389|.	E9PDE4;B7Z8S8;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	S|F	389;485;485;466;450;444;463;448;402;388;380;402;330;367;388;117;89;125|159	ENSP00000343421:P389S;ENSP00000425721:P485S;ENSP00000379158:P485S;ENSP00000352098:P466S;ENSP00000320319:P450S;ENSP00000379157:P444S;ENSP00000422176:P463S;ENSP00000422677:P448S;ENSP00000339914:P402S;ENSP00000421130:P388S;ENSP00000312523:P380S;ENSP00000422325:P402S;ENSP00000425670:P330S;ENSP00000426946:P367S;ENSP00000423638:P388S;ENSP00000425787:P117S;ENSP00000423846:P89S;ENSP00000422929:P125S|.	ENSP00000312523:P380S|.	P|S	+|+	1|2	0|0	CAST|CAST	96112071|96112071	0.037000|0.037000	0.19845|0.19845	0.032000|0.032000	0.17829|0.17829	0.007000|0.007000	0.05969|0.05969	0.966000|0.966000	0.29331|0.29331	1.384000|1.384000	0.46424|0.46424	-0.145000|-0.145000	0.13849|0.13849	CCT|TCC		0.488	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2		NM_173062		10	29	0	0	0	0.008291	0	10	29		
APC	324	broad.mit.edu	37	5	112103071	112103071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:112103071G>T	ENST00000457016.1	+	4	786	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	APC_ENST00000257430.4_Nonsense_Mutation_p.E136*|APC_ENST00000508376.2_Nonsense_Mutation_p.E136*			P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E136K(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATTTAGAAGAACTTGAGAA	0.338		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Substitution - Missense(1)		large_intestine(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(406-408)GAA>TAA		adenomatous polyposis coli							78.0	78.0	78.0					5																	112103071		2202	4300	6502	SO:0001587	stop_gained	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112103071G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.406G>T	5.37:g.112103071G>T	ENSP00000413133:p.Glu136*	TSP Lung(16;0.13)				APC_uc011cvt.1_Nonsense_Mutation_p.E146*|APC_uc003kpz.3_Nonsense_Mutation_p.E136*|APC_uc003kpy.3_Nonsense_Mutation_p.E136*|APC_uc010jbz.2_5'UTR	p.E136*	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	4	786	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	136			Leu-rich.|Potential.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.406G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579922	0.86645	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.5101	19.2099	0.93749	0.0:0.0:1.0:0.0	.	.	.	.	X	136;146;136;136;136	.	.	E	+	1	0	APC	112130970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.780000	0.85658	2.547000	0.85894	0.585000	0.79938	GAA		0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038		35	16	1	0	2.75727e-19	0.004878	3.01049e-19	35	16		
TSSK1B	83942	broad.mit.edu	37	5	112770257	112770257	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:112770257C>T	ENST00000390666.3	-	1	471	c.280G>A	c.(280-282)Gtc>Atc	p.V94I	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCGCCCTGGACCGCGAGCTCC	0.512																																						uc003kqm.2		NaN																	0				ovary(2)|skin(2)|stomach(1)	5						c.(280-282)GTC>ATC		testis-specific serine kinase 1							61.0	66.0	64.0					5																	112770257		2187	4294	6481	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770257C>T	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.280G>A	5.37:g.112770257C>T	ENSP00000375081:p.Val94Ile					MCC_uc003kql.3_Intron	p.V94I	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	472	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	94			Protein kinase.		B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.280G>A	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725605	0.30593	.	.	ENSG00000212122	ENST00000390666	T	0.24350	1.86	2.71	2.71	0.32032	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	0.31301	U	0.007888	T	0.15392	0.0371	N	0.17564	0.495	0.09310	N	1	B	0.30211	0.273	B	0.36030	0.216	T	0.12268	-1.0554	10	0.48119	T	0.1	.	5.6105	0.17402	0.0:0.8422:0.0:0.1578	.	94	Q9BXA7	TSSK1_HUMAN	I	94	ENSP00000375081:V94I	ENSP00000375081:V94I	V	-	1	0	TSSK1B	112798156	0.002000	0.14202	0.989000	0.46669	0.768000	0.43524	1.643000	0.37217	1.552000	0.49463	0.563000	0.77884	GTC		0.512	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2		NM_032028		11	24	0	0	0	0.010729	0	11	24		
CEP120	153241	broad.mit.edu	37	5	122717855	122717855	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:122717855C>T	ENST00000306467.5	-	14	2357	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	CEP120_ENST00000306481.6_Missense_Mutation_p.E659K|CEP120_ENST00000328236.5_Missense_Mutation_p.E685K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	685					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTCCATTCCTCTGCAAGAGCC	0.353																																						uc003ktk.2		NaN																	0				ovary(1)	1						c.(2053-2055)GAG>AAG		coiled-coil domain containing 100							126.0	124.0	125.0					5																	122717855		2203	4299	6502	SO:0001583	missense	153241					centrosome		g.chr5:122717855C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2053G>A	5.37:g.122717855C>T	ENSP00000303058:p.Glu685Lys					CEP120_uc011cwq.1_Missense_Mutation_p.E494K|CEP120_uc010jcz.1_Missense_Mutation_p.E659K	p.E685K	NM_153223	NP_694955	Q8N960	CE120_HUMAN			15	2135	-			685			Potential.		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2053G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701183	0.88924	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.1	5.1	0.69264	.	0.169635	0.50627	D	0.000110	T	0.72104	0.3419	M	0.78049	2.395	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	T	0.75161	-0.3415	10	0.56958	D	0.05	-21.6668	18.4683	0.90763	0.0:1.0:0.0:0.0	.	685	Q8N960	CE120_HUMAN	K	685;685;659;659	ENSP00000303058:E685K;ENSP00000327504:E685K;ENSP00000307419:E659K;ENSP00000421620:E659K	ENSP00000303058:E685K	E	-	1	0	CEP120	122745754	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.397000	0.66302	2.535000	0.85469	0.585000	0.79938	GAG		0.353	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2		NM_153223		5	65	0	0	0	0.001168	0	5	65		
ANKHD1	54882	broad.mit.edu	37	5	139917811	139917811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:139917811C>T	ENST00000360839.2	+	32	7523	c.7369C>T	c.(7369-7371)Cag>Tag	p.Q2457*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q2457*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.Q781*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.Q2457*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2457						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTTTCATCAGCCTATGGC	0.408																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(7369-7371)CAG>TAG		ANKHD1-EIF4EBP3 protein							251.0	240.0	243.0					5																	139917811		2203	4300	6503	SO:0001587	stop_gained	404734					cytoplasm|nucleus	RNA binding	g.chr5:139917811C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7369C>T	5.37:g.139917811C>T	ENSP00000354085:p.Gln2457*					ANKHD1_uc003lfr.2_Nonsense_Mutation_p.Q2457*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.Q1213*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.Q1112*|ANKHD1_uc010jfl.2_Nonsense_Mutation_p.Q833*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.Q611*	p.Q2457*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		32	7493	+			2457					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	c.7369C>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.771463|5.771463	0.96922|0.96922	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000435794;ENST00000432301	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76673	.|0.4020	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74124	.|-0.3766	.|3	0.87932|.	D|.	0|.	.|.	19.7069|19.7069	0.96076|0.96076	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2457;2457;2474;1130;996;781;2457;485|947;848	.|.	ENSP00000396882:Q485X|.	Q|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139897995|139897995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.278000|7.278000	0.78587|0.78587	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.408	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		39	120	0	0	0	0.009718	0	39	120		
ANKHD1	54882	broad.mit.edu	37	5	139918544	139918544	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:139918544C>G	ENST00000360839.2	+	33	7599	c.7445C>G	c.(7444-7446)tCt>tGt	p.S2482C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2482C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S806C|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S2482C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2482						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATACCCTCTCATCCTCAG	0.363																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(7444-7446)TCT>TGT		ANKHD1-EIF4EBP3 protein							89.0	83.0	85.0					5																	139918544		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139918544C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7445C>G	5.37:g.139918544C>G	ENSP00000354085:p.Ser2482Cys					ANKHD1_uc003lfr.2_Missense_Mutation_p.S2482C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1238C|ANKHD1_uc003lfw.2_Missense_Mutation_p.S1137C|ANKHD1_uc010jfl.2_Missense_Mutation_p.S858C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S627C	p.S2482C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		33	7569	+			2482					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.7445C>G	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.83|19.83	3.899768|3.899768	0.72754|0.72754	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000421706|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|T;T;T;T;T;T;T	.|0.71222	.|-0.34;-0.55;1.72;1.73;1.24;-0.55;0.62	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.070355	.|0.64402	.|D	.|0.000009	T|T	0.81069|0.81069	0.4746|0.4746	L|L	0.44542|0.44542	1.39|1.39	0.45477|0.45477	D|D	0.998445|0.998445	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.997;1.0;0.994;0.993;0.999	.|D;D;D;P;P;D	.|0.79108	.|0.981;0.981;0.992;0.667;0.628;0.981	T|T	0.81295|0.81295	-0.0997|-0.0997	5|10	.|0.72032	.|D	.|0.01	.|.	20.2192|20.2192	0.98319|0.98319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|806;929;806;2499;2482;2482	.|Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	V|C	140|2482;2482;2499;1155;1012;806;2482;501	.|ENSP00000354085:S2482C;ENSP00000297183:S2482C;ENSP00000393204:S1155C;ENSP00000390034:S1012C;ENSP00000437687:S806C;ENSP00000432016:S2482C;ENSP00000396882:S501C	.|ENSP00000396882:S501C	L|S	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139898728|139898728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.391000|7.391000	0.79828|0.79828	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.363	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		14	29	0	0	0	0.004007	0	14	29		
PCDHA1	56147	broad.mit.edu	37	5	140166145	140166145	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:140166145C>T	ENST00000504120.2	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA1_ENST00000394633.3_Silent_p.I90I|PCDHA1_ENST00000378133.3_Silent_p.I90I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	90	Cadherin 1. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGATCGCGAGG	0.577																																						uc003lhb.2		NaN																	0				skin(1)	1						c.(268-270)ATC>ATT		protocadherin alpha 1 isoform 1 precursor							86.0	92.0	90.0					5																	140166145		2203	4300	6503	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166145C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.270C>T	5.37:g.140166145C>T						PCDHA1_uc003lha.2_Silent_p.I90I|PCDHA1_uc003lgz.2_Silent_p.I90I	p.I90I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	270	+			90			Cadherin 1.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.270C>T	CCDS54913.1																																																																																				0.577	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1		NM_018900		6	104	0	0	0	0.001168	0	6	104		
PCDHA8	56140	broad.mit.edu	37	5	140222414	140222414	+	Missense_Mutation	SNP	C	C	T	rs376777545		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:140222414C>T	ENST00000531613.1	+	1	1508	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S503L|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCTCGCTGTCGAGC	0.667																																						uc003lhs.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1507-1509)TCG>TTG		protocadherin alpha 8 isoform 1 precursor		C	,,,,,,,LEU/SER,,,LEU/SER	0,4388		0,0,2194	50.0	56.0	54.0		,,,,,,,1508,,,1508	1.9	0.6	5		54	2,8524	2.2+/-6.3	1,0,4262	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,145,,,145	1,0,6456	TT,TC,CC		0.0235,0.0,0.0155	,,,,,,,,,,	,,,,,,,503/951,,,503/815	140222414	2,12912	2194	4263	6457	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222414C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1508C>T	5.37:g.140222414C>T	ENSP00000434655:p.Ser503Leu					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_uc003lhr.1_Missense_Mutation_p.S503L	p.S503L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+			503			Cadherin 5.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1508C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327492	0.24080	0.0	2.35E-4	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.62105	0.05;0.05	3.72	1.85	0.25348	Cadherin (4);Cadherin-like (1);	1.572370	0.04649	N	0.406814	T	0.44095	0.1277	N	0.11154	0.105	0.21473	N	0.999675	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.007	T	0.27839	-1.0062	10	0.26408	T	0.33	.	8.7965	0.34883	0.0:0.8118:0.0:0.1882	.	503;503	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	503	ENSP00000434655:S503L;ENSP00000367363:S503L	ENSP00000367363:S503L	S	+	2	0	PCDHA8	140202598	0.198000	0.23374	0.618000	0.29105	0.207000	0.24258	0.878000	0.28126	0.176000	0.19873	0.306000	0.20318	TCG		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		39	30	0	0	0	0.009718	0	39	30		
ADRB2	154	broad.mit.edu	37	5	148207582	148207582	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:148207582C>A	ENST00000305988.4	+	1	1427	c.1188C>A	c.(1186-1188)agC>agA	p.S396R		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	396					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CTGTGCCTAGCGATAACATTG	0.453																																						uc003lpr.1		NaN																	0				ovary(1)	1						c.(1186-1188)AGC>AGA		adrenergic, beta-2-, receptor, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						76.0	81.0	80.0					5																	148207582		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207582C>A	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.1188C>A	5.37:g.148207582C>A	ENSP00000305372:p.Ser396Arg					SH3TC2_uc003lpp.1_Intron	p.S396R	NM_000024	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1427	+			396			Cytoplasmic.		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.1188C>A	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	6.513	0.462796	0.12402	.	.	ENSG00000169252	ENST00000305988	T	0.66099	-0.19	5.68	-2.12	0.07165	.	0.543924	0.18455	N	0.140708	T	0.54303	0.1850	M	0.65975	2.015	0.09310	N	1	B	0.28082	0.2	B	0.21917	0.037	T	0.50874	-0.8776	10	0.45353	T	0.12	.	12.1673	0.54138	0.0:0.3505:0.0:0.6495	.	396	P07550	ADRB2_HUMAN	R	396	ENSP00000305372:S396R	ENSP00000305372:S396R	S	+	3	2	ADRB2	148187775	0.000000	0.05858	0.084000	0.20598	0.782000	0.44232	-0.975000	0.03790	-0.240000	0.09696	-0.258000	0.10820	AGC		0.453	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1		NM_000024		22	21	1	0	6.44725e-10	0.014323	6.83026e-10	22	21		
GABRP	2568	broad.mit.edu	37	5	170239053	170239053	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:170239053G>A	ENST00000518525.1	+	11	1578	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	GABRP_ENST00000265294.4_Missense_Mutation_p.E372K|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	372					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCCAGCATTGAAATTTCCAG	0.413																																						uc003mau.2		NaN																	0				breast(1)	1						c.(1114-1116)GAA>AAA		gamma-aminobutyric acid (GABA) A receptor, pi							125.0	116.0	119.0					5																	170239053		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170239053G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1114G>A	5.37:g.170239053G>A	ENSP00000430100:p.Glu372Lys					GABRP_uc011dev.1_3'UTR	p.E372K	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1312	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	372			Cytoplasmic (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.1114G>A	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470172	0.63625	.	.	ENSG00000094755	ENST00000518525;ENST00000265294	D;D	0.81821	-1.54;-1.54	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.329019	0.32608	N	0.005866	T	0.65048	0.2654	N	0.08118	0	0.44175	D	0.996987	B	0.18863	0.031	B	0.12837	0.008	T	0.60870	-0.7177	10	0.13853	T	0.58	.	18.4783	0.90800	0.0:0.0:1.0:0.0	.	372	O00591	GBRP_HUMAN	K	372	ENSP00000430100:E372K;ENSP00000265294:E372K	ENSP00000265294:E372K	E	+	1	0	GABRP	170171631	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.611000	0.67674	2.709000	0.92574	0.655000	0.94253	GAA		0.413	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3		NM_014211		20	72	0	0	0	0.008871	0	20	72		
UIMC1	51720	broad.mit.edu	37	5	176409576	176409576	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:176409576G>A	ENST00000377227.4	-	2	173	c.41C>T	c.(40-42)tCt>tTt	p.S14F	UIMC1_ENST00000377219.2_Missense_Mutation_p.S14F|UIMC1_ENST00000511320.1_Missense_Mutation_p.S14F|UIMC1_ENST00000506128.1_Missense_Mutation_p.S14F			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	14	Necessary for transcriptional repression.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTTCCGAGATTCGGAGAC	0.373																																						uc011dfp.1		NaN																	0				ovary(3)|skin(1)	4						c.(40-42)TCT>TTT		ubiquitin interaction motif containing 1							150.0	138.0	142.0					5																	176409576		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176409576G>A	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.41C>T	5.37:g.176409576G>A	ENSP00000366434:p.Ser14Phe					UIMC1_uc003mfc.1_5'UTR|UIMC1_uc003mfd.1_5'UTR|UIMC1_uc003mfg.1_Missense_Mutation_p.S14F|UIMC1_uc003mfh.1_Missense_Mutation_p.S14F|UIMC1_uc010jkj.1_Missense_Mutation_p.S14F|UIMC1_uc011dfq.1_Missense_Mutation_p.S14F	p.S14F	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	208	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	14			Necessary for transcriptional repression.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.41C>T	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928454	0.52759	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000509236;ENST00000507513;ENST00000428382	T;T;T;T;T;T;T	0.56444	1.39;1.39;1.39;1.39;1.39;1.39;0.46	5.28	3.45	0.39498	.	0.887861	0.09782	N	0.756547	T	0.47451	0.1446	N	0.22421	0.69	0.09310	N	1	D;P;P	0.53151	0.958;0.729;0.729	P;B;B	0.51135	0.66;0.351;0.351	T	0.31081	-0.9956	10	0.62326	D	0.03	0.0747	7.6837	0.28528	0.0905:0.1748:0.7347:0.0	.	14;14;14	Q96RL1-5;Q96RL1;D6RCF3	.;UIMC1_HUMAN;.	F	14	ENSP00000366434:S14F;ENSP00000366425:S14F;ENSP00000421926:S14F;ENSP00000427480:S14F;ENSP00000423885:S14F;ENSP00000425163:S14F;ENSP00000423534:S14F	ENSP00000366425:S14F	S	-	2	0	UIMC1	176342182	0.000000	0.05858	0.686000	0.30086	0.580000	0.36256	0.184000	0.16939	1.188000	0.43014	0.650000	0.86243	TCT		0.373	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1		NM_016290		11	67	0	0	0	0.008291	0	11	67		
BTNL8	79908	broad.mit.edu	37	5	180326337	180326337	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:180326337G>C	ENST00000340184.4	+	1	233	c.27G>C	c.(25-27)ctG>ctC	p.L9L	BTNL8_ENST00000508408.1_Silent_p.L9L|BTNL8_ENST00000231229.4_Silent_p.L9L|BTNL8_ENST00000511704.1_Silent_p.L9L|BTNL8_ENST00000400707.3_5'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	9					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTTGGTTCTGAGTCTCCTCA	0.453																																						uc003mmp.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(25-27)CTG>CTC		butyrophilin-like 8 isoform 2 precursor							367.0	305.0	326.0					5																	180326337		2203	4300	6503	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180326337G>C	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.27G>C	5.37:g.180326337G>C						BTNL8_uc003mmq.2_Silent_p.L9L|BTNL8_uc011dhg.1_5'UTR|BTNL8_uc010jll.2_Silent_p.L9L|BTNL8_uc010jlm.2_Silent_p.L9L	p.L9L	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	261	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	9					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.27G>C	CCDS43413.1																																																																																				0.453	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1		NM_024850		40	180	0	0	0	0.00874	0	40	180		
TFAP2A	7020	broad.mit.edu	37	6	10404933	10404933	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:10404933G>A	ENST00000482890.1	-	5	924	c.572C>T	c.(571-573)tCc>tTc	p.S191F	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.S193F|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S187F|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S191F|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S185F			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	191					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S191C(1)|p.S185C(1)|p.S187C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGGATGGCGGAGACGGCATT	0.627																																						uc003myr.2		NaN																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(571-573)TCC>TTC		transcription factor AP-2 alpha isoform a							87.0	90.0	89.0					6																	10404933		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10404933G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.572C>T	6.37:g.10404933G>A	ENSP00000418541:p.Ser191Phe					TFAP2A_uc003myq.2_Missense_Mutation_p.S185F|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.S191F|TFAP2A_uc003myt.2_Missense_Mutation_p.S187F|TFAP2A_uc003myu.1_Missense_Mutation_p.S191F	p.S191F	NM_003220	NP_003211	P05549	AP2A_HUMAN			4	824	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	191					Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.572C>T	CCDS4510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.114622|4.114622	0.77210|0.77210	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000475264|ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450	.|D;D;D;D;D;D;D	.|0.97378	.|-4.35;-4.35;-4.35;-4.36;-4.35;-4.29;-4.11	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97732|0.97732	0.9256|0.9256	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	.|P;D;P;P;P	.|0.67145	.|0.879;0.996;0.718;0.868;0.713	.|B;D;B;B;B	.|0.79108	.|0.424;0.992;0.178;0.243;0.284	D|D	0.97309|0.97309	0.9936|0.9936	5|10	.|0.41790	.|T	.|0.15	-12.8134|-12.8134	18.9331|18.9331	0.92574|0.92574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|191;193;187;191;185	.|C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6	.|.;.;.;AP2A_HUMAN;.	S|F	96|193;191;187;185;191;191;48	.|ENSP00000368933:S193F;ENSP00000368924:S191F;ENSP00000316516:S187F;ENSP00000368928:S185F;ENSP00000418541:S191F;ENSP00000417495:S191F;ENSP00000419961:S48F	.|ENSP00000316516:S187F	P|S	-|-	1|2	0|0	TFAP2A|TFAP2A	10512919|10512919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	6.084000|6.084000	0.71335|0.71335	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2		NM_003220		34	43	0	0	0	0.003271	0	34	43		
JARID2	3720	broad.mit.edu	37	6	15468887	15468887	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:15468887C>T	ENST00000341776.2	+	5	852	c.608C>T	c.(607-609)tCa>tTa	p.S203L	JARID2_ENST00000397311.3_Missense_Mutation_p.S31L|JARID2_ENST00000541660.1_Missense_Mutation_p.S165L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	203					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACAATGCTTCATCTTCATGC	0.468																																						uc003nbj.2		NaN																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(607-609)TCA>TTA		jumonji, AT rich interactive domain 2 protein							143.0	119.0	127.0					6																	15468887		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15468887C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.608C>T	6.37:g.15468887C>T	ENSP00000341280:p.Ser203Leu					JARID2_uc011diu.1_Missense_Mutation_p.S67L|JARID2_uc011div.1_Missense_Mutation_p.S31L|JARID2_uc011diw.1_Missense_Mutation_p.S165L	p.S203L	NM_004973	NP_004964	Q92833	JARD2_HUMAN			5	852	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	203					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.608C>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202463	0.79127	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.36340	1.26;1.26;1.26	4.89	4.89	0.63831	.	0.141429	0.49305	D	0.000152	T	0.37679	0.1012	L	0.29908	0.895	0.49687	D	0.999817	D;D;P	0.65815	0.975;0.995;0.915	P;P;P	0.61477	0.778;0.889;0.471	T	0.36016	-0.9765	10	0.66056	D	0.02	-3.367	18.1147	0.89549	0.0:1.0:0.0:0.0	.	165;67;203	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	L	67;203;31;165	ENSP00000341280:S203L;ENSP00000380478:S31L;ENSP00000444623:S165L	ENSP00000341280:S203L	S	+	2	0	JARID2	15576866	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.874000	0.75546	2.272000	0.75746	0.650000	0.86243	TCA		0.468	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1		NM_004973		16	51	0	0	0	0.00499	0	16	51		
ALDH5A1	7915	broad.mit.edu	37	6	24528378	24528378	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:24528378C>T	ENST00000357578.3	+	8	1472	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	ALDH5A1_ENST00000348925.2_Silent_p.L456L|ALDH5A1_ENST00000491546.1_Silent_p.L415L|ALDH5A1_ENST00000546278.1_Silent_p.L355L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	443					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TTTCGGGCCTCTGGCACCAGT	0.488																																						uc003neg.2		NaN																	0					0						c.(1327-1329)CTG>TTG		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						68.0	68.0	68.0					6																	24528378		2203	4300	6503	SO:0001819	synonymous_variant	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24528378C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1327C>T	6.37:g.24528378C>T						ALDH5A1_uc003nef.2_Silent_p.L456L	p.L443L	NM_001080	NP_001071	P51649	SSDH_HUMAN			8	1355	+			443					B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	c.1327C>T	CCDS4555.1																																																																																				0.488	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2				22	29	0	0	0	0.014323	0	22	29		
HIST1H2BE	8344	broad.mit.edu	37	6	26184092	26184092	+	Silent	SNP	G	G	A	rs549755584	byFrequency	TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:26184092G>A	ENST00000356530.3	+	1	135	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	23					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CCAAGGCGCAGAAGAAGGACG	0.577																																						uc003ngt.2		NaN																	0					0						c.(67-69)CAG>CAA		histone cluster 1, H2be							131.0	121.0	124.0					6																	26184092		2203	4300	6503	SO:0001819	synonymous_variant	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184092G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.69G>A	6.37:g.26184092G>A							p.Q23Q	NM_003523	NP_003514	P62807	H2B1C_HUMAN			1	69	+			23					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000356530.3	37	c.69G>A	CCDS4588.1																																																																																				0.577	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1		NM_003523		59	114	0	0	0	0.01441	0	59	114		
ZSCAN9	7746	broad.mit.edu	37	6	28200360	28200360	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:28200360G>A	ENST00000252207.5	+	4	737	c.589G>A	c.(589-591)Gac>Aac	p.D197N	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.D197N|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.D248N	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	197					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)										CAAGACTGAGGACAGAGAGTT	0.423																																						uc003nkq.1		NaN																	0					0						c.(589-591)GAC>AAC		zinc finger protein 193							71.0	67.0	68.0					6																	28200360		2203	4300	6503	SO:0001583	missense	7746				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28200360G>A	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.589G>A	6.37:g.28200360G>A	ENSP00000252207:p.Asp197Asn					ZNF193_uc003nkr.1_Missense_Mutation_p.D197N|ZNF193_uc010jqz.1_Missense_Mutation_p.D248N	p.D197N	NM_006299	NP_006290	O15535	ZN193_HUMAN			4	704	+			197					B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	ENST00000252207.5	37	c.589G>A	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309214	0.23821	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	T;T;T;T	0.05925	3.37;3.38;3.38;3.5	3.65	-2.38	0.06622	.	.	.	.	.	T	0.00580	0.0019	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47209	-0.9135	9	0.02654	T	1	.	1.4722	0.02418	0.3168:0.1374:0.4057:0.1401	.	248;197	E7EVQ2;O15535	.;ZN193_HUMAN	N	248;197;197;226	ENSP00000404074:D248N;ENSP00000252207:D197N;ENSP00000433402:D197N;ENSP00000436166:D226N	ENSP00000252207:D197N	D	+	1	0	ZNF193	28308339	0.000000	0.05858	0.410000	0.26471	0.649000	0.38597	-0.153000	0.10144	-0.543000	0.06240	0.655000	0.94253	GAC		0.423	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2		NM_006299		6	77	0	0	0	0.001984	0	6	77		
TRIM27	5987	broad.mit.edu	37	6	28872256	28872256	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:28872256C>T	ENST00000377199.3	-	8	1489	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	378	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCTTTATCTCCCACCTCTAC	0.532			T	RET	papillary thyroid																																	uc003nlr.2		NaN		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				ovary(1)	1						c.(1132-1134)GGA>GAA		ret finger protein							89.0	84.0	86.0					6																	28872256		1511	2709	4220	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28872256C>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1133G>A	6.37:g.28872256C>T	ENSP00000366404:p.Gly378Glu					TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR	p.G378E	NM_006510	NP_006501	P14373	TRI27_HUMAN			8	1492	-			378			B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.1133G>A	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794794	0.70452	.	.	ENSG00000204713	ENST00000377199	T	0.62232	0.04	4.89	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.52532	D	0.000065	T	0.64571	0.2610	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.60974	-0.7156	10	0.33141	T	0.24	.	10.5656	0.45171	0.0:0.9049:0.0:0.0951	.	378	P14373	TRI27_HUMAN	E	378	ENSP00000366404:G378E	ENSP00000366404:G378E	G	-	2	0	TRIM27	28980235	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.389000	0.52516	2.638000	0.89438	0.650000	0.86243	GGA		0.532	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2		NM_030950		16	75	0	0	0	0.003163	0	16	75		
ZBTB22	9278	broad.mit.edu	37	6	33284067	33284067	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:33284067G>A	ENST00000431845.2	-	2	778	c.627C>T	c.(625-627)ttC>ttT	p.F209F	TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.F209F|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	209					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCTGGGGCTGAAGTAGTTGC	0.617																																						uc003oeb.2		NaN																	0				ovary(1)	1						c.(625-627)TTC>TTT		zinc finger and BTB domain containing 22							37.0	43.0	41.0					6																	33284067		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284067G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.627C>T	6.37:g.33284067G>A						TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.F209F	p.F209F	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	779	-			209					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.627C>T	CCDS4775.1																																																																																				0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2				22	35	0	0	0	0.010504	0	22	35		
RNF8	9025	broad.mit.edu	37	6	37336788	37336788	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:37336788C>T	ENST00000373479.4	+	3	962	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Silent_p.L257L	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	257					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GTCCAGGATTCTGAGGCTCAA	0.433																																						uc003onq.3		NaN																	0				ovary(1)	1						c.(769-771)CTG>TTG		ring finger protein 8 isoform 1							83.0	87.0	86.0					6																	37336788		2203	4300	6503	SO:0001819	synonymous_variant	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336788C>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.769C>T	6.37:g.37336788C>T						RNF8_uc003onr.3_Silent_p.L257L|RNF8_uc011dtx.1_Silent_p.L189L	p.L257L	NM_003958	NP_003949	O76064	RNF8_HUMAN			3	962	+			257					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	ENST00000373479.4	37	c.769C>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	2.573	-0.299218	0.05532	.	.	ENSG00000112130	ENST00000498460	.	.	.	6.07	2.2	0.27929	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.32052	-0.9921	4	.	.	.	-1.0E-4	2.85	0.05554	0.2689:0.4716:0.1184:0.1411	.	.	.	.	F	46	.	.	S	+	2	0	RNF8	37444766	0.808000	0.29022	0.980000	0.43619	0.433000	0.31745	0.258000	0.18387	0.404000	0.25506	0.655000	0.94253	TCT		0.433	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2				20	90	0	0	0	0.010504	0	20	90		
TRERF1	55809	broad.mit.edu	37	6	42196160	42196160	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:42196160C>T	ENST00000372922.4	-	18	4088	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K	TRERF1_ENST00000372917.4_Missense_Mutation_p.E1105K|TRERF1_ENST00000541110.1_Missense_Mutation_p.E1196K|TRERF1_ENST00000340840.2_Missense_Mutation_p.E1105K|TRERF1_ENST00000354325.2_Missense_Mutation_p.E1093K	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1176	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACTTCAGCCTCTTCCATGACA	0.532																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(3526-3528)GAG>AAG		transcriptional regulating factor 1							147.0	131.0	136.0					6																	42196160		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196160C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3526G>A	6.37:g.42196160C>T	ENSP00000362013:p.Glu1176Lys					TRERF1_uc011duq.1_Missense_Mutation_p.E1093K|TRERF1_uc003osb.2_Missense_Mutation_p.E944K|TRERF1_uc003osc.2_Missense_Mutation_p.E932K|TRERF1_uc003ose.2_Missense_Mutation_p.E1196K	p.E1176K	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4089	-	Colorectal(47;0.196)		1176			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.3526G>A	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734928	0.69189	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13420	2.66;2.59;2.72;2.59;2.6	5.53	4.62	0.57501	.	0.105878	0.41097	D	0.000951	T	0.06416	0.0165	N	0.24115	0.695	0.38443	D	0.946751	P;P;P;P;P	0.51147	0.86;0.78;0.78;0.86;0.942	P;B;B;P;P	0.45610	0.453;0.265;0.265;0.453;0.487	T	0.08269	-1.0730	10	0.72032	D	0.01	-28.9341	10.7265	0.46072	0.0:0.7959:0.1326:0.0715	.	1093;1196;1176;932;944	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	K	1196;1105;1176;1105;1093	ENSP00000439689:E1196K;ENSP00000362008:E1105K;ENSP00000362013:E1176K;ENSP00000339438:E1105K;ENSP00000346285:E1093K	ENSP00000339438:E1105K	E	-	1	0	TRERF1	42304138	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.765000	0.47621	2.617000	0.88574	0.557000	0.71058	GAG		0.532	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		12	148	0	0	0	0.010729	0	12	148		
XPO5	57510	broad.mit.edu	37	6	43521164	43521164	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:43521164C>T	ENST00000265351.7	-	14	1728	c.1518G>A	c.(1516-1518)atG>atA	p.M506I	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	506					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAAAAAGAGTCATGGCTTCCC	0.403																																						uc003ovp.2		NaN																	0				skin(2)|breast(1)|kidney(1)	4						c.(1516-1518)ATG>ATA		exportin 5							66.0	65.0	65.0					6																	43521164		1910	4139	6049	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43521164C>T	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1518G>A	6.37:g.43521164C>T	ENSP00000265351:p.Met506Ile						p.M506I	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		14	1729	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		506					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.1518G>A	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223030	0.79464	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372252;ENST00000372258;ENST00000439465	D	0.87491	-2.26	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.039479	0.85682	D	0.000000	D	0.82393	0.5027	M	0.74881	2.28	0.80722	D	1	P	0.35844	0.524	B	0.30495	0.116	T	0.82398	-0.0477	10	0.32370	T	0.25	-23.9253	19.5584	0.95363	0.0:1.0:0.0:0.0	.	506	Q9HAV4	XPO5_HUMAN	I	506;211;46;46;134	ENSP00000265351:M506I	ENSP00000265351:M506I	M	-	3	0	XPO5	43629142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.372000	0.79612	2.618000	0.88619	0.655000	0.94253	ATG		0.403	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750		3	12	0	0	0	0.004672	0	3	12		
XPO5	57510	broad.mit.edu	37	6	43528732	43528732	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:43528732C>G	ENST00000265351.7	-	10	1234	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	XPO5_ENST00000424378.2_5'Flank|RP3-337H4.10_ENST00000607635.1_RNA	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	342					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTTCTACATCAGAATCTGCA	0.368																																						uc003ovp.2		NaN																	0				skin(2)|breast(1)|kidney(1)	4						c.(1024-1026)GAT>CAT		exportin 5							128.0	121.0	123.0					6																	43528732		1826	4081	5907	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43528732C>G	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1024G>C	6.37:g.43528732C>G	ENSP00000265351:p.Asp342His						p.D342H	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		10	1235	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		342					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.1024G>C	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963985	0.34659	.	.	ENSG00000124571	ENST00000265351;ENST00000436943	T	0.32753	1.44	5.93	2.02	0.26589	Armadillo-type fold (1);	0.398556	0.30252	N	0.010046	T	0.05227	0.0139	N	0.08118	0	0.30194	N	0.799208	P	0.34780	0.468	B	0.32289	0.143	T	0.26018	-1.0115	10	0.48119	T	0.1	-3.9775	8.7122	0.34391	0.0:0.6267:0.0:0.3733	.	342	Q9HAV4	XPO5_HUMAN	H	342;47	ENSP00000265351:D342H	ENSP00000265351:D342H	D	-	1	0	XPO5	43636710	0.992000	0.36948	0.983000	0.44433	0.900000	0.52787	1.129000	0.31381	0.073000	0.16731	0.650000	0.86243	GAT		0.368	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750		14	67	0	0	0	0.00245	0	14	67		
POLH	5429	broad.mit.edu	37	6	43555015	43555015	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:43555015G>A	ENST00000372236.4	+	4	574	c.279G>A	c.(277-279)cgG>cgA	p.R93R	POLH_ENST00000535400.1_Silent_p.R31R|POLH_ENST00000372226.1_Silent_p.R93R|RP3-337H4.8_ENST00000417591.1_RNA	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	2407					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTAGGTACCGGGAAGCCAGTG	0.448								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													uc003ovq.3		NaN																	0				breast(2)	2						c.(277-279)CGG>CGA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase eta							212.0	195.0	201.0					6																	43555015		2203	4300	6503	SO:0001819	synonymous_variant	5429	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43555015G>A	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.279G>A	6.37:g.43555015G>A						POLH_uc010jyu.2_Intron|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_5'UTR	p.R93R	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		4	583	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		93			UmuC.		O95160|Q6VMB5	Silent	SNP	ENST00000372236.4	37	c.279G>A	CCDS4902.1																																																																																				0.448	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1		NM_006502		12	158	0	0	0	0.001855	0	12	158		
POLH	5429	broad.mit.edu	37	6	43555211	43555211	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:43555211G>C	ENST00000372236.4	+	4	770	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	POLH_ENST00000535400.1_Missense_Mutation_p.E97Q|POLH_ENST00000372226.1_Missense_Mutation_p.E159Q|RP3-337H4.8_ENST00000417591.1_RNA	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AACGGCAGAAGAGACTGTTCA	0.473								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													uc003ovq.3		NaN																	0				breast(2)	2						c.(475-477)GAG>CAG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase eta							81.0	71.0	75.0					6																	43555211		2203	4300	6503	SO:0001583	missense	5429	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43555211G>C	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.475G>C	6.37:g.43555211G>C	ENSP00000361310:p.Glu159Gln					POLH_uc010jyu.2_Intron|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.E60Q	p.E159Q	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		4	779	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		159			UmuC.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.475G>C	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970349	0.34754	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.70749	-0.51;-0.51;-0.51	5.63	5.63	0.86233	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.628475	0.17496	N	0.172178	T	0.32041	0.0816	N	0.04959	-0.14	0.35111	D	0.766134	B	0.15141	0.012	B	0.08055	0.003	T	0.11767	-1.0574	10	0.22706	T	0.39	-18.7053	12.5552	0.56250	0.0804:0.0:0.9196:0.0	.	159	Q9Y253	POLH_HUMAN	Q	159;97;159	ENSP00000361310:E159Q;ENSP00000442102:E97Q;ENSP00000361300:E159Q	ENSP00000361300:E159Q	E	+	1	0	POLH	43663189	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.663000	0.68038	2.641000	0.89580	0.585000	0.79938	GAG		0.473	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1		NM_006502		5	61	0	0	0	0.000602	0	5	61		
SLC25A27	9481	broad.mit.edu	37	6	46644175	46644175	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:46644175G>A	ENST00000371347.5	+	9	1208	c.956G>A	c.(955-957)gGa>gAa	p.G319E	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|SLC25A27_ENST00000452689.2_Missense_Mutation_p.G233E|SLC25A27_ENST00000411689.2_Intron	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	319					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAGATGAGTGGAGTCAGTCCA	0.368																																						uc003oyh.2		NaN																	0					0						c.(955-957)GGA>GAA		solute carrier family 25, member 27							123.0	112.0	116.0					6																	46644175		1848	4093	5941	SO:0001583	missense	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46644175G>A	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.956G>A	6.37:g.46644175G>A	ENSP00000360398:p.Gly319Glu					SLC25A27_uc011dwb.1_Intron|SLC25A27_uc003oyg.2_Intron|SLC25A27_uc011dwc.1_Missense_Mutation_p.G233E|SLC25A27_uc003oyi.2_Missense_Mutation_p.G249E	p.G319E	NM_004277	NP_004268	O95847	UCP4_HUMAN	Lung(136;0.192)		9	1207	+			319					F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	c.956G>A	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408670	0.83340	.	.	ENSG00000153291	ENST00000371347;ENST00000452689	D;T	0.81499	-1.5;-1.49	5.72	5.72	0.89469	.	0.149746	0.42964	D	0.000640	D	0.89392	0.6702	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.90286	0.4319	10	0.87932	D	0	-13.5018	17.3698	0.87373	0.0:0.0:1.0:0.0	.	233;319;319	B4DZG4;Q5VTS9;O95847	.;.;UCP4_HUMAN	E	319;233	ENSP00000360398:G319E;ENSP00000412223:G233E	ENSP00000360398:G319E	G	+	2	0	SLC25A27	46752134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.713000	0.74686	2.709000	0.92574	0.591000	0.81541	GGA		0.368	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1		NM_004277		20	87	0	0	0	0.00278	0	20	87		
CD2AP	23607	broad.mit.edu	37	6	47563717	47563717	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:47563717C>G	ENST00000359314.5	+	12	1685	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	410	Pro-rich.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.P410Q(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACAGTGTACCCAAAGCGACCT	0.423																																						uc003oyw.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1228-1230)CCA>CGA		CD2-associated protein							184.0	195.0	191.0					6																	47563717		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47563717C>G	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1229C>G	6.37:g.47563717C>G	ENSP00000352264:p.Pro410Arg						p.P410R	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		12	1685	+			410			SH3-binding (Potential).|Pro-rich.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.1229C>G	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468530	0.63625	.	.	ENSG00000198087	ENST00000359314	T	0.28895	1.59	5.67	5.67	0.87782	.	0.432236	0.21402	N	0.075122	T	0.41811	0.1175	M	0.74881	2.28	0.52501	D	0.99995	P	0.47253	0.892	P	0.51866	0.682	T	0.28004	-1.0057	10	0.52906	T	0.07	-3.145	19.3805	0.94530	0.0:1.0:0.0:0.0	.	410	Q9Y5K6	CD2AP_HUMAN	R	410	ENSP00000352264:P410R	ENSP00000352264:P410R	P	+	2	0	CD2AP	47671676	1.000000	0.71417	0.999000	0.59377	0.610000	0.37248	3.640000	0.54350	2.690000	0.91761	0.460000	0.39030	CCA		0.423	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2				29	176	0	0	0	0.009535	0	29	176		
PHF3	23469	broad.mit.edu	37	6	64395311	64395311	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:64395311C>A	ENST00000262043.3	+	4	2028	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	PHF3_ENST00000393387.1_Missense_Mutation_p.S563Y|PHF3_ENST00000509330.1_Missense_Mutation_p.S563Y			Q92576	PHF3_HUMAN	PHD finger protein 3	563					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTTGCAATTCTGGGGTTAAA	0.343																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(1687-1689)TCT>TAT		PHD finger protein 3							50.0	53.0	52.0					6																	64395311		2203	4299	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395311C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1688C>A	6.37:g.64395311C>A	ENSP00000262043:p.Ser563Tyr					PHF3_uc010kaf.1_Missense_Mutation_p.S563Y|PHF3_uc003pem.2_Missense_Mutation_p.S516Y|PHF3_uc010kag.1_Missense_Mutation_p.S475Y|PHF3_uc010kah.1_Missense_Mutation_p.S377Y|PHF3_uc003pen.2_Missense_Mutation_p.S475Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.S563Y	p.S563Y	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	1714	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		563					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1688C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081256	0.36758	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.52526	1.94;1.62;1.99;1.64;0.66;1.99	5.98	5.12	0.69794	.	0.195682	0.25509	N	0.030196	T	0.43875	0.1267	L	0.57536	1.79	0.37510	D	0.917126	P;P	0.49358	0.638;0.923	B;P	0.49276	0.312;0.605	T	0.52917	-0.8511	10	0.87932	D	0	-7.6521	15.3276	0.74179	0.0:0.933:0.0:0.067	.	563;563	Q92576;D6R9X2	PHF3_HUMAN;.	Y	377;475;563;516;563;563	ENSP00000424694:S377Y;ENSP00000425227:S475Y;ENSP00000262043:S563Y;ENSP00000424078:S516Y;ENSP00000422841:S563Y;ENSP00000377048:S563Y	ENSP00000262043:S563Y	S	+	2	0	PHF3	64453270	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.443000	0.35057	1.541000	0.49316	0.591000	0.81541	TCT		0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				26	39	1	0	8.24728e-16	0.004656	8.95898e-16	26	39		
FAM46A	55603	broad.mit.edu	37	6	82459924	82459924	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:82459924C>G	ENST00000320172.6	-	3	1131	c.817G>C	c.(817-819)Gat>Cat	p.D273H	FAM46A_ENST00000369756.3_Missense_Mutation_p.D354H|FAM46A_ENST00000369754.3_Missense_Mutation_p.D292H	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	273					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CAAAGGTGATCAAAGGCTTCC	0.493																																						uc003pjg.2		NaN																	0					0						c.(817-819)GAT>CAT		hypothetical protein LOC55603							71.0	75.0	74.0					6																	82459924		2203	4300	6503	SO:0001583	missense	55603							g.chr6:82459924C>G	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.817G>C	6.37:g.82459924C>G	ENSP00000318298:p.Asp273His					FAM46A_uc003pjf.2_Missense_Mutation_p.D292H	p.D273H	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	3	1135	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	273					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	c.817G>C	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	8.022	0.759936	0.15846	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.23552	1.9;1.9;1.9	5.95	5.95	0.96441	Domain of unknown function DUF1693 (1);	0.129267	0.64402	D	0.000001	T	0.17662	0.0424	L	0.55481	1.735	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.17433	0.018;0.002	T	0.03597	-1.1021	10	0.25751	T	0.34	-15.9338	20.3932	0.98965	0.0:1.0:0.0:0.0	.	273;292	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	H	292;273;354	ENSP00000358769:D292H;ENSP00000318298:D273H;ENSP00000358771:D354H	ENSP00000318298:D273H	D	-	1	0	FAM46A	82516643	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	6.056000	0.71111	2.824000	0.97209	0.655000	0.94253	GAT		0.493	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1				15	68	0	0	0	0.003163	0	15	68		
MDN1	23195	broad.mit.edu	37	6	90420473	90420473	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:90420473G>C	ENST00000369393.3	-	50	7807	c.7692C>G	c.(7690-7692)ctC>ctG	p.L2564L	MDN1_ENST00000428876.1_Silent_p.L2564L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2564					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAAATTCCTGAGAGATGCAG	0.398																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(7690-7692)CTC>CTG		MDN1, midasin homolog							96.0	91.0	93.0					6																	90420473		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90420473G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7692C>G	6.37:g.90420473G>C							p.L2564L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	50	7808	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2564					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.7692C>G	CCDS5024.1																																																																																				0.398	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				15	33	0	0	0	0.003163	0	15	33		
CASP8AP2	9994	broad.mit.edu	37	6	90577477	90577477	+	RNA	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:90577477G>C	ENST00000551025.1	+	0	5905									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGATGCATCTGAGCAAGATAT	0.408																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NaN																	0				ovary(2)	2						c.(4468-4470)GAG>CAG		caspase 8 associated protein 2							89.0	86.0	87.0					6																	90577477		1900	4120	6020			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577477G>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577477G>C						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1490Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1490Q	p.E1490Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	4664	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1490						Missense_Mutation	SNP	ENST00000551025.1	37	c.4468G>C																																																																																					0.408	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667		34	52	0	0	0	0.004289	0	34	52		
BVES	11149	broad.mit.edu	37	6	105577271	105577271	+	Silent	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:105577271A>G	ENST00000314641.5	-	3	550	c.334T>C	c.(334-336)Tta>Cta	p.L112L	BVES_ENST00000336775.5_Silent_p.L112L|BVES_ENST00000446408.2_Silent_p.L112L	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	112					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCTTGTATAAAAGATACGAC	0.348																																						uc003pqw.2		NaN																	0					0						c.(334-336)TTA>CTA		blood vessel epicardial substance isoform 5							50.0	47.0	48.0					6																	105577271		2203	4300	6503	SO:0001819	synonymous_variant	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105577271A>G	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.334T>C	6.37:g.105577271A>G						BVES_uc003pqx.2_Silent_p.L112L|BVES_uc003pqy.2_Silent_p.L112L	p.L112L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			3	491	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	112			Helical; (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	ENST00000314641.5	37	c.334T>C	CCDS5051.1																																																																																				0.348	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1		NM_147147		21	45	0	0	0	0.008871	0	21	45		
GJA1	2697	broad.mit.edu	37	6	121768780	121768780	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:121768780C>A	ENST00000282561.3	+	2	944	c.787C>A	c.(787-789)Caa>Aaa	p.Q263K		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	263					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGTGGGTCTCAAAAATATGC	0.517																																						uc003pyr.2		NaN																	0				ovary(2)	2						c.(787-789)CAA>AAA		connexin 43	Carvedilol(DB01136)						69.0	69.0	69.0					6																	121768780		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768780C>A	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.787C>A	6.37:g.121768780C>A	ENSP00000282561:p.Gln263Lys					GJA1_uc011ebo.1_Missense_Mutation_p.Q164K|GJA1_uc011ebp.1_Missense_Mutation_p.Q51K	p.Q263K	NM_000165	NP_000156	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1037	+			263			Cytoplasmic (Potential).		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.787C>A	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	7.399	0.632328	0.14322	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	T	0.81163	-1.46	5.18	5.18	0.71444	.	0.389998	0.25236	N	0.032123	T	0.51787	0.1695	N	0.08118	0	0.33110	D	0.540411	B	0.02656	0.0	B	0.01281	0.0	T	0.40403	-0.9565	10	0.25751	T	0.34	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	263	P17302	CXA1_HUMAN	K	247;263	ENSP00000282561:Q263K	ENSP00000282561:Q263K	Q	+	1	0	GJA1	121810479	1.000000	0.71417	0.969000	0.41365	0.008000	0.06430	2.941000	0.49011	2.694000	0.91930	0.585000	0.79938	CAA		0.517	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1		NM_000165		21	87	1	0	4.96729e-08	0.008871	5.19381e-08	21	87		
PTPRK	5796	broad.mit.edu	37	6	128411102	128411102	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:128411102C>T	ENST00000368215.3	-	8	1197	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	PTPRK_ENST00000368227.3_Missense_Mutation_p.E400K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E400K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E400K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E400K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E400K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.E400K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	400	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GCCTGTATTTCAGCAATCTTT	0.383																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1198-1200)GAA>AAA		protein tyrosine phosphatase, receptor type, K							107.0	102.0	104.0					6																	128411102		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.chr6:128411102C>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.1198G>A	6.37:g.128411102C>T	ENSP00000357198:p.Glu400Lys					PTPRK_uc003qbj.2_Missense_Mutation_p.E400K|PTPRK_uc010kfc.2_Missense_Mutation_p.E400K|PTPRK_uc011ebu.1_Missense_Mutation_p.E400K|PTPRK_uc003qbl.1_Missense_Mutation_p.E270K|PTPRK_uc011ebv.1_Missense_Mutation_p.E400K	p.E400K	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)	8	1565	-			400			Extracellular (Potential).|Fibronectin type-III 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1198G>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.044950	0.75846	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.86	5.86	0.93980	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.105656	0.64402	D	0.000005	T	0.41604	0.1166	L	0.49126	1.545	0.54753	D	0.999987	P;P;P;P;B;B	0.46621	0.478;0.612;0.731;0.881;0.137;0.215	B;B;B;B;B;B	0.43889	0.1;0.214;0.332;0.435;0.022;0.049	T	0.18398	-1.0338	10	0.20046	T	0.44	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	400;400;400;257;400;400	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	K	400;400;400;400;400;400;400;257	ENSP00000357209:E400K;ENSP00000357210:E400K;ENSP00000432973:E400K;ENSP00000357196:E400K;ENSP00000357193:E400K;ENSP00000357198:E400K;ENSP00000357190:E400K	ENSP00000357190:E400K	E	-	1	0	PTPRK	128452795	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.741000	0.68638	2.774000	0.95407	0.585000	0.79938	GAA		0.383	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				37	94	0	0	0	0.00623	0	37	94		
L3MBTL3	84456	broad.mit.edu	37	6	130392177	130392177	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:130392177G>C	ENST00000529410.1	+	15	1628	c.1149G>C	c.(1147-1149)aaG>aaC	p.K383N	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.K358N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.K383N|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.K358N|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.K383N|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.K358N			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	383					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TAGACAAAAAGAATCCCTCAT	0.423																																						uc003qbt.2		NaN																	0				ovary(5)|skin(1)	6						c.(1147-1149)AAG>AAC		l(3)mbt-like 3 isoform a							279.0	265.0	269.0					6																	130392177		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130392177G>C	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1149G>C	6.37:g.130392177G>C	ENSP00000431962:p.Lys383Asn					L3MBTL3_uc003qbu.2_Missense_Mutation_p.K358N	p.K383N	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	13	1319	+			383			MBT 2.		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1149G>C	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321756	0.81580	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	6.17	6.17	0.99709	.	0.042044	0.85682	D	0.000000	D	0.86957	0.6058	L	0.58101	1.795	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.83931	0.0306	10	0.25751	T	0.34	.	11.0573	0.47927	0.1365:0.0:0.8635:0.0	.	358;383	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	N	383;358;383;358;358;383	ENSP00000431962:K383N;ENSP00000437185:K358N;ENSP00000354526:K383N;ENSP00000357121:K358N;ENSP00000436706:K358N;ENSP00000357118:K383N	ENSP00000354526:K383N	K	+	3	2	L3MBTL3	130433870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.879000	0.63100	2.941000	0.99782	0.655000	0.94253	AAG		0.423	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2		XM_027074		59	289	0	0	0	0.01441	0	59	289		
BCLAF1	9774	broad.mit.edu	37	6	136582453	136582453	+	Missense_Mutation	SNP	C	C	T	rs141900019		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:136582453C>T	ENST00000531224.1	-	12	2959	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.E901K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E854K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E852K|BCLAF1_ENST00000031135.9_Missense_Mutation_p.E121K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E730K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E852K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	903					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCATGGTCTCTTCTTCATCT	0.373																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	0				ovary(1)	1						c.(2707-2709)GAG>AAG		BCL2-associated transcription factor 1 isoform							239.0	238.0	238.0					6																	136582453		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582453C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2707G>A	6.37:g.136582453C>T	ENSP00000435210:p.Glu903Lys					BCLAF1_uc011edb.1_Missense_Mutation_p.E182K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E730K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E852K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E901K	p.E903K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2960	-	Colorectal(23;0.24)		903					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2707G>A	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.047965|3.047965	0.55110|0.55110	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.49432|.	4.34;4.34;4.34;2.38;4.34;0.78;4.34|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.182576|.	0.37955|.	N|.	0.001871|.	T|T	0.61999|0.61999	0.2392|0.2392	L|L	0.48642|0.48642	1.525|1.525	0.43930|0.43930	D|D	0.996582|0.996582	D;D;D;D;D|.	0.67145|.	0.974;0.996;0.974;0.974;0.974|.	D;D;D;D;D|.	0.77557|.	0.953;0.99;0.953;0.953;0.953|.	T|T	0.58064|0.58064	-0.7702|-0.7702	10|5	0.66056|.	D|.	0.02|.	-4.5525|-4.5525	19.3961|19.3961	0.94607|0.94607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	901;182;852;903;730|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	K|K	903;852;854;730;901;121;852|169	ENSP00000435210:E903K;ENSP00000229446:E852K;ENSP00000435441:E854K;ENSP00000436501:E730K;ENSP00000434826:E901K;ENSP00000031135:E121K;ENSP00000376159:E852K|.	ENSP00000031135:E121K|.	E|R	-|-	1|2	0|0	BCLAF1|BCLAF1	136624146|136624146	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.993000|0.993000	0.82548|0.82548	4.387000|4.387000	0.59626|0.59626	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.373	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		15	291	0	0	0	0.004007	0	15	291		
BCLAF1	9774	broad.mit.edu	37	6	136589379	136589379	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:136589379C>T	ENST00000531224.1	-	10	2570	c.2318G>A	c.(2317-2319)aGa>aAa	p.R773K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R771K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R773K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R771K|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R600K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R771K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	773					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R773I(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTTCTTCTCTTTCCTTCTT	0.383																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2317-2319)AGA>AAA		BCL2-associated transcription factor 1 isoform							164.0	151.0	155.0					6																	136589379		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589379C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2318G>A	6.37:g.136589379C>T	ENSP00000435210:p.Arg773Lys					BCLAF1_uc011edb.1_Missense_Mutation_p.R101K|BCLAF1_uc003qgw.1_Missense_Mutation_p.R600K|BCLAF1_uc003qgy.1_Missense_Mutation_p.R771K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R771K	p.R773K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2571	-	Colorectal(23;0.24)		773					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2318G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584670	0.65992	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000004	T	0.05318	0.0141	N	0.03608	-0.345	0.80722	D	1	B;P;P;B;B	0.45715	0.397;0.865;0.571;0.397;0.397	B;P;B;B;B	0.47673	0.173;0.554;0.281;0.173;0.133	T	0.51052	-0.8754	10	0.25751	T	0.34	-9.7938	19.1534	0.93499	0.0:1.0:0.0:0.0	.	771;101;771;773;600	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	K	773;771;773;600;771;771	ENSP00000435210:R773K;ENSP00000229446:R771K;ENSP00000435441:R773K;ENSP00000436501:R600K;ENSP00000434826:R771K;ENSP00000376159:R771K	ENSP00000229446:R771K	R	-	2	0	BCLAF1	136631072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.585000	0.60977	2.549000	0.85964	0.484000	0.47621	AGA		0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		19	203	0	0	0	0.007413	0	19	203		
KIAA1244	57221	broad.mit.edu	37	6	138619775	138619775	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:138619775G>A	ENST00000251691.4	+	22	3847	c.3681G>A	c.(3679-3681)caG>caA	p.Q1227Q		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ATGTGTCTCAGAAGGCTGTTT	0.473																																						uc003qhu.2		NaN																	0				ovary(1)|skin(1)	2						c.(3679-3681)CAG>CAA		brefeldin A-inhibited guanine							106.0	87.0	93.0					6																	138619775		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138619775G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3681G>A	6.37:g.138619775G>A							p.Q1227Q	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	22	3681	+	Breast(32;0.135)		1227						Silent	SNP	ENST00000251691.4	37	c.3681G>A	CCDS5189.2																																																																																				0.473	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340		28	25	0	0	0	0.007291	0	28	25		
SHPRH	257218	broad.mit.edu	37	6	146242491	146242491	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:146242491C>T	ENST00000367505.2	-	21	4084	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K	SHPRH_ENST00000367503.3_Missense_Mutation_p.E1278K|SHPRH_ENST00000275233.7_Missense_Mutation_p.E1274K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1278K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1274					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCATCTTCTATCATCTCC	0.433																																						uc003qlf.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3820-3822)GAA>AAA		SNF2 histone linker PHD RING helicase isoform a							84.0	80.0	81.0					6																	146242491		1928	4133	6061	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146242491C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3820G>A	6.37:g.146242491C>T	ENSP00000356475:p.Glu1274Lys					SHPRH_uc003qld.2_Missense_Mutation_p.E1278K|SHPRH_uc003qle.2_Missense_Mutation_p.E1278K|SHPRH_uc003qlg.1_Missense_Mutation_p.E830K|SHPRH_uc003qlh.2_Missense_Mutation_p.E199K|SHPRH_uc003qli.1_Missense_Mutation_p.E199K	p.E1274K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	21	4219	-		Ovarian(120;0.0365)	1274					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3820G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	34	5.303265	0.95601	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.82010	0.4944	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.993;0.997	T	0.79184	-0.1908	10	0.39692	T	0.17	-26.218	19.8097	0.96542	0.0:1.0:0.0:0.0	.	1274;1278	Q149N8;Q149N8-4	SHPRH_HUMAN;.	K	1274;1278;1278;1274	ENSP00000356475:E1274K;ENSP00000356473:E1278K;ENSP00000412797:E1278K;ENSP00000275233:E1274K	ENSP00000275233:E1274K	E	-	1	0	SHPRH	146284184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.685000	0.91497	0.484000	0.47621	GAA		0.433	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2		NM_173082		4	25	0	0	0	0.009096	0	4	25		
TULP4	56995	broad.mit.edu	37	6	158735144	158735144	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:158735144G>A	ENST00000367097.3	+	1	1453	c.96G>A	c.(94-96)gaG>gaA	p.E32E	RP11-732M18.3_ENST00000432358.1_lincRNA|TULP4_ENST00000367094.2_Silent_p.E32E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	32					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGAAGGAGAAGCCTGTGT	0.572																																						uc003qrf.2		NaN																	0				ovary(1)	1						c.(94-96)GAG>GAA		tubby like protein 4 isoform 1							96.0	81.0	86.0					6																	158735144		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158735144G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.96G>A	6.37:g.158735144G>A						TULP4_uc011efo.1_Silent_p.E32E|TULP4_uc003qrg.2_Silent_p.E32E	p.E32E	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	1	1453	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	32					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.96G>A	CCDS34561.1																																																																																				0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1		NM_020245		14	27	0	0	0	0.001855	0	14	27		
ERMARD	55780	broad.mit.edu	37	6	170156863	170156863	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:170156863C>T	ENST00000366773.3	+	5	499	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F	ERMARD_ENST00000392095.4_Missense_Mutation_p.L30F|ERMARD_ENST00000588451.1_Missense_Mutation_p.L30F|ERMARD_ENST00000418781.3_Missense_Mutation_p.L156F|ERMARD_ENST00000366772.2_Missense_Mutation_p.L156F	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	156					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AAGAGATCTGCTTTCATCTGA	0.358																																						uc003qxg.1		NaN																	0				ovary(1)	1						c.(466-468)CTT>TTT		hypothetical protein LOC55780							190.0	187.0	188.0					6																	170156863		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170156863C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.466C>T	6.37:g.170156863C>T	ENSP00000355735:p.Leu156Phe					C6orf70_uc011ehb.1_Missense_Mutation_p.L30F|C6orf70_uc003qxh.1_Missense_Mutation_p.L156F|C6orf70_uc010kky.1_Missense_Mutation_p.L30F	p.L156F	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	5	499	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	156					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.466C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919730	0.33908	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.74737	-0.87;-0.78	5.75	2.99	0.34606	.	0.000000	0.56097	D	0.000040	T	0.78898	0.4356	M	0.83483	2.645	0.21355	N	0.999712	D;D;D	0.89917	0.992;0.992;1.0	P;P;D	0.91635	0.868;0.868;0.999	T	0.72404	-0.4304	10	0.87932	D	0	.	9.0749	0.36515	0.2629:0.6673:0.0:0.0697	.	156;156;156	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	F	156;156;156;30	ENSP00000355735:L156F;ENSP00000375945:L30F	ENSP00000355734:L156F	L	+	1	0	C6orf70	169898788	1.000000	0.71417	0.005000	0.12908	0.039000	0.13416	3.244000	0.51399	0.342000	0.23796	0.563000	0.77884	CTT		0.358	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2		NM_018341		30	87	0	0	0	0.003755	0	30	87		
CHST12	55501	broad.mit.edu	37	7	2473142	2473142	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:2473142G>A	ENST00000258711.6	+	2	1003	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	290					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTCGGCGCGCGAGGCCTTCCG	0.652																																						uc003smc.2		NaN																	0				kidney(1)	1						c.(868-870)GAG>AAG		carbohydrate sulfotransferase 12							43.0	45.0	44.0					7																	2473142		2202	4297	6499	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473142G>A	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.868G>A	7.37:g.2473142G>A	ENSP00000258711:p.Glu290Lys					CHST12_uc003smd.2_Missense_Mutation_p.E290K	p.E290K	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1003	+		Ovarian(82;0.0253)	290			Lumenal (Potential).		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.868G>A	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752029	0.69533	.	.	ENSG00000136213	ENST00000258711	T	0.73789	-0.78	5.27	4.35	0.52113	.	5.923870	0.00958	N	0.003071	D	0.86045	0.5839	M	0.69823	2.125	0.58432	D	0.999993	D	0.69078	0.997	P	0.58130	0.833	T	0.69312	-0.5178	10	0.51188	T	0.08	-5.1972	15.5195	0.75854	0.0:0.139:0.861:0.0	.	290	Q9NRB3	CHSTC_HUMAN	K	290	ENSP00000258711:E290K	ENSP00000258711:E290K	E	+	1	0	CHST12	2439668	1.000000	0.71417	0.979000	0.43373	0.931000	0.56810	5.459000	0.66685	1.163000	0.42636	0.462000	0.41574	GAG		0.652	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3		NM_018641		11	99	0	0	0	0.010729	0	11	99		
WIPF3	644150	broad.mit.edu	37	7	29915522	29915522	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:29915522G>A	ENST00000409290.1	+	2	167	c.167G>A	c.(166-168)gGa>gAa	p.G56E	WIPF3_ENST00000409123.1_Missense_Mutation_p.G56E|WIPF3_ENST00000242140.5_Missense_Mutation_p.G56E	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	56	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						ATCCAGCAAGGAACTCGCCTG	0.582																																						uc003taj.1		NaN																	0				ovary(1)	1						c.(166-168)GGA>GAA		WAS/WASL interacting protein family, member 3							58.0	65.0	62.0					7																	29915522		2120	4241	6361	SO:0001583	missense	644150							g.chr7:29915522G>A	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.167G>A	7.37:g.29915522G>A	ENSP00000386878:p.Gly56Glu						p.G56E	NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN			2	167	+			56					B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	c.167G>A	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594232	0.66219	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.75050	-0.9;-0.9;-0.9	5.22	5.22	0.72569	Actin-binding WH2 (3);	0.000000	0.64402	D	0.000008	D	0.89241	0.6659	M	0.93241	3.395	0.42596	D	0.993268	D	0.89917	1.0	D	0.97110	1.0	D	0.91938	0.5560	10	0.87932	D	0	.	14.2927	0.66289	0.0:0.0:1.0:0.0	.	56	A6NGB9	WIPF3_HUMAN	E	56	ENSP00000386790:G56E;ENSP00000386878:G56E;ENSP00000242140:G56E	ENSP00000242140:G56E	G	+	2	0	WIPF3	29882047	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.279000	0.78599	2.423000	0.82170	0.643000	0.83706	GGA		0.582	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1				9	58	0	0	0	0.006214	0	9	58		
CCDC129	223075	broad.mit.edu	37	7	31682680	31682680	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:31682680C>G	ENST00000407970.3	+	11	1734	c.1696C>G	c.(1696-1698)Ctg>Gtg	p.L566V	CCDC129_ENST00000409210.1_Missense_Mutation_p.L474V|CCDC129_ENST00000451887.2_Missense_Mutation_p.L592V|CCDC129_ENST00000319386.3_Missense_Mutation_p.L418V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	566										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGATCATCCTCTGGGGTTTAT	0.517																																						uc003tcj.1		NaN																	0					0						c.(1696-1698)CTG>GTG		coiled-coil domain containing 129							174.0	170.0	171.0					7																	31682680		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682680C>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1696C>G	7.37:g.31682680C>G	ENSP00000384416:p.Leu566Val					CCDC129_uc011kad.1_Missense_Mutation_p.L576V|CCDC129_uc003tci.1_Missense_Mutation_p.L417V|CCDC129_uc011kae.1_Missense_Mutation_p.L592V|CCDC129_uc003tck.1_Missense_Mutation_p.L474V	p.L566V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2689	+			566					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1696C>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336784	0.24253	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.18016	2.24;2.51;2.5;2.24	5.93	-7.57	0.01318	.	2.118200	0.01987	N	0.045230	T	0.07954	0.0199	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.29988	0.11;0.041;0.041;0.264	B;B;B;B	0.21151	0.031;0.027;0.027;0.033	T	0.37033	-0.9723	10	0.02654	T	1	-22.2551	0.9496	0.01373	0.3523:0.2076:0.2522:0.1879	.	592;576;566;418	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	V	418;566;592;576;474	ENSP00000313062:L418V;ENSP00000384416:L566V;ENSP00000395835:L592V;ENSP00000387214:L474V	ENSP00000313062:L418V	L	+	1	2	CCDC129	31649205	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.651000	0.01989	-1.084000	0.03092	-0.218000	0.12543	CTG		0.517	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1		NM_194300		12	223	0	0	0	0.010729	0	12	223		
NT5C3A	51251	broad.mit.edu	37	7	33063689	33063689	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:33063689C>G	ENST00000242210.7	-	3	360	c.284G>C	c.(283-285)aGa>aCa	p.R95T	NT5C3A_ENST00000396152.2_Missense_Mutation_p.R56T|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000610140.1_Missense_Mutation_p.R90T|NT5C3A_ENST00000409787.1_Missense_Mutation_p.R56T|NT5C3A_ENST00000381626.2_Missense_Mutation_p.R44T|NT5C3A_ENST00000405342.1_Missense_Mutation_p.R56T|NT5C3A_ENST00000409467.1_Missense_Mutation_p.R44T	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	95				R -> K (in Ref. 11; AA sequence). {ECO:0000305}.	dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										ATATGAAAATCTACTGAGTGT	0.338																																						uc003tdk.2		NaN																	0				ovary(1)	1						c.(283-285)AGA>ACA		5'-nucleotidase, cytosolic III isoform 1							89.0	81.0	83.0					7																	33063689		2201	4300	6501	SO:0001583	missense	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33063689C>G	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.284G>C	7.37:g.33063689C>G	ENSP00000242210:p.Arg95Thr					AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.R56T|NT5C3_uc003tdj.2_Missense_Mutation_p.R56T	p.R95T	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		3	361	-			95	R -> K (in Ref. 11; AA sequence).				A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.284G>C	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444984	0.83993	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.5	5.5	0.81552	HAD-like domain (1);	0.088250	0.85682	D	0.000000	D	0.86690	0.5993	M	0.69823	2.125	0.58432	D	0.999997	D;D	0.60575	0.988;0.974	P;P	0.54238	0.746;0.508	D	0.86179	0.1605	10	0.41790	T	0.15	.	12.7018	0.57038	0.0:0.9245:0.0:0.0755	.	95;56	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	T	44;56;95;56;44;56	ENSP00000371039:R44T;ENSP00000379456:R56T;ENSP00000242210:R95T;ENSP00000385261:R56T;ENSP00000387166:R44T;ENSP00000387205:R56T	ENSP00000242210:R95T	R	-	2	0	NT5C3	33030214	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.364000	0.52328	2.582000	0.87167	0.460000	0.39030	AGA		0.338	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1		NM_016489		5	19	0	0	0	0.001168	0	5	19		
ABCA13	154664	broad.mit.edu	37	7	48313605	48313605	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:48313605C>G	ENST00000435803.1	+	17	4366	c.4342C>G	c.(4342-4344)Ctt>Gtt	p.L1448V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1448					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAAAACCTCTTTGTTCATC	0.264																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(4342-4344)CTT>GTT		ATP binding cassette, sub-family A (ABC1),							30.0	32.0	31.0					7																	48313605		1783	4036	5819	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313605C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4342C>G	7.37:g.48313605C>G	ENSP00000411096:p.Leu1448Val					ABCA13_uc010kyr.2_Missense_Mutation_p.L951V	p.L1448V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	4367	+			1448					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4342C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.182259	0.01633	.	.	ENSG00000179869	ENST00000435803	D	0.85861	-2.04	5.32	1.24	0.21308	.	1.340970	0.05323	N	0.526995	T	0.75657	0.3879	L	0.34521	1.04	0.09310	N	1	B	0.22003	0.063	B	0.16722	0.016	T	0.56111	-0.8033	9	.	.	.	.	3.506	0.07691	0.2613:0.3534:0.3053:0.08	.	1448	Q86UQ4	ABCAD_HUMAN	V	1448	ENSP00000411096:L1448V	.	L	+	1	0	ABCA13	48284151	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.159000	0.10056	0.001000	0.14605	0.563000	0.77884	CTT		0.264	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		10	55	0	0	0	0.010729	0	10	55		
ZNF479	90827	broad.mit.edu	37	7	57187752	57187752	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:57187752C>T	ENST00000331162.4	-	5	1640	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTC	0.433																																						uc010kzo.2		NaN																	0				ovary(3)|skin(1)	4						c.(1369-1371)AGA>AAA		zinc finger protein 479							68.0	69.0	69.0					7																	57187752		2095	4229	6324	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187752C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1370G>A	7.37:g.57187752C>T	ENSP00000333776:p.Arg457Lys						p.R457K	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1641	-			457			C2H2-type 10.			Missense_Mutation	SNP	ENST00000331162.4	37	c.1370G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	0.131	-1.113101	0.01799	.	.	ENSG00000185177	ENST00000331162	T	0.18338	2.22	0.955	-0.377	0.12501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.16743	0.435	0.09310	N	1	B	0.19200	0.034	B	0.26310	0.068	T	0.41016	-0.9532	9	0.23302	T	0.38	.	1.8994	0.03264	0.317:0.4477:0.0:0.2354	.	457	Q96JC4	ZN479_HUMAN	K	457	ENSP00000333776:R457K	ENSP00000333776:R457K	R	-	2	0	ZNF479	57191694	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.413000	0.07123	-0.680000	0.05211	-0.693000	0.03709	AGA		0.433	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		XM_291202		8	133	0	0	0	0.00308	0	8	133		
ZNF479	90827	broad.mit.edu	37	7	57188486	57188487	+	Missense_Mutation	DNP	GG	GG	AA	rs551129651		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:57188486_57188487GG>AA	ENST00000331162.4	-	5	905_906	c.635_636CC>TT	c.(634-636)tCC>tTT	p.S212F		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCATTTGTAGGACTTCTCCCT	0.332																																						uc010kzo.2		NaN																	0				ovary(3)|skin(1)	4						c.(634-636)TCC>TTT		zinc finger protein 479																																				SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188486_57188487GG>AA	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.635_636delinsAA	7.37:g.57188486_57188487delinsAA	ENSP00000333776:p.Ser212Phe						p.S212F	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	906_907	-			212			C2H2-type 1.			Missense_Mutation	DNP	ENST00000331162.4	37	c.635_636CC>TT	CCDS43590.1																																																																																				0.332	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		XM_291202		11	19	0	0	0	0.004672	0	11	19		
CACNA2D1	781	broad.mit.edu	37	7	82072690	82072690	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:82072690G>A	ENST00000356253.5	-	1	341	c.86C>T	c.(85-87)tCg>tTg	p.S29L	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.S29L|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S29L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	29					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGTGACGGCCGAAGGGAACGG	0.682																																						uc003uhr.1		NaN																	0				ovary(5)|pancreas(1)	6						c.(85-87)TCG>TTG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						25.0	25.0	25.0					7																	82072690		2202	4297	6499	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:82072690G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.86C>T	7.37:g.82072690G>A	ENSP00000348589:p.Ser29Leu						p.S29L	NM_000722	NP_000713	P54289	CA2D1_HUMAN			1	342	-			29			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	G	14.61	2.587282	0.46110	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.23552	3.24;3.24;1.9	3.86	2.97	0.34412	.	1.362600	0.05531	N	0.564012	T	0.23926	0.0579	L	0.50333	1.59	0.80722	D	1	B	0.34200	0.441	B	0.31101	0.124	T	0.10636	-1.0621	10	0.12430	T	0.62	5.8543	10.3932	0.44185	0.0997:0.0:0.9003:0.0	.	29	P54289-2	.	L	29	ENSP00000349320:S29L;ENSP00000348589:S29L;ENSP00000405395:S29L	ENSP00000284088:S29L	S	-	2	0	CACNA2D1	81910626	1.000000	0.71417	0.984000	0.44739	0.952000	0.60782	3.783000	0.55409	0.597000	0.29811	0.313000	0.20887	TCG		0.682	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding					7	21	0	0	0	0.001984	0	7	21		
ABCB1	5243	broad.mit.edu	37	7	87165842	87165842	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:87165842C>T	ENST00000265724.3	-	21	2830	c.2413G>A	c.(2413-2415)Gat>Aat	p.D805N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D741N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	805	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.D805N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTAGGGTCATCAAACCAACTC	0.458																																						uc003uiz.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2413-2415)GAT>AAT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						143.0	129.0	134.0					7																	87165842		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87165842C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2413G>A	7.37:g.87165842C>T	ENSP00000265724:p.Asp805Asn					ABCB1_uc011khc.1_Missense_Mutation_p.D741N	p.D805N	NM_000927	NP_000918	P08183	MDR1_HUMAN			21	2831	-	Esophageal squamous(14;0.00164)		805			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2413G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937669	0.92458	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90676	-2.71;-2.71	5.64	4.76	0.60689	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048156	0.85682	N	0.000000	D	0.97151	0.9069	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;0.96	D;P	0.97110	1.0;0.867	D	0.98532	1.0628	10	0.87932	D	0	-22.313	14.9206	0.70835	0.0:0.9311:0.0:0.0689	.	741;805	B5AK60;P08183	.;MDR1_HUMAN	N	586;805;741	ENSP00000265724:D805N;ENSP00000444095:D741N	ENSP00000265724:D805N	D	-	1	0	ABCB1	87003778	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.940000	0.70187	1.519000	0.48950	0.591000	0.81541	GAT		0.458	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927		6	56	0	0	0	0.004482	0	6	56		
TMEM130	222865	broad.mit.edu	37	7	98446226	98446226	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:98446226G>C	ENST00000416379.2	-	7	1103	c.1099C>G	c.(1099-1101)Cag>Gag	p.Q367E	TMEM130_ENST00000345589.4_Missense_Mutation_p.Q265E|TMEM130_ENST00000450876.1_Missense_Mutation_p.Q283E|TMEM130_ENST00000339375.4_Missense_Mutation_p.Q367E|TMEM130_ENST00000546258.1_Missense_Mutation_p.Q348E|TMEM130_ENST00000474857.1_5'Flank			Q8N3G9	TM130_HUMAN	transmembrane protein 130	367						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTTTTGCTGAGTGGCATTC	0.552																																						uc003upo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1099-1101)CAG>GAG		transmembrane protein 130 isoform a							148.0	130.0	136.0					7																	98446226		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98446226G>C		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1099C>G	7.37:g.98446226G>C	ENSP00000413163:p.Gln367Glu					TMEM130_uc011kiq.1_Missense_Mutation_p.Q348E|TMEM130_uc011kir.1_Missense_Mutation_p.Q367E|TMEM130_uc003upn.2_Missense_Mutation_p.Q265E	p.Q367E	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	1288	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		367			Cytoplasmic (Potential).		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.1099C>G	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798484	0.31777	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.15	4.24	0.50183	.	0.587614	0.16146	N	0.227464	T	0.08582	0.0213	N	0.19112	0.55	0.09310	N	0.999992	B;B;B;B	0.22146	0.065;0.065;0.065;0.013	B;B;B;B	0.25291	0.037;0.059;0.04;0.025	T	0.36648	-0.9739	10	0.08837	T	0.75	-0.2266	10.6315	0.45538	0.0:0.0:0.8002:0.1997	.	367;348;367;265	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	E	367;367;283;265;348	ENSP00000413163:Q367E;ENSP00000341256:Q367E;ENSP00000390200:Q283E;ENSP00000330262:Q265E;ENSP00000445869:Q348E	ENSP00000341256:Q367E	Q	-	1	0	TMEM130	98284162	0.375000	0.25089	0.217000	0.23759	0.970000	0.65996	3.704000	0.54815	1.116000	0.41820	0.561000	0.74099	CAG		0.552	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1		NM_152913		11	96	0	0	0	0.008291	0	11	96		
TRRAP	8295	broad.mit.edu	37	7	98581089	98581089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:98581089C>T	ENST00000359863.4	+	59	9217	c.9008C>T	c.(9007-9009)cCg>cTg	p.P3003L	TRRAP_ENST00000446306.3_Intron|TRRAP_ENST00000355540.3_Intron	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3003	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			cagggtaaaccgacctggtcc	0.507																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9007-9009)CCG>CTG		transformation/transcription domain-associated							93.0	75.0	81.0					7																	98581089		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98581089C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9008C>T	7.37:g.98581089C>T	ENSP00000352925:p.Pro3003Leu					TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Intron	p.P3003L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		59	9217	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3003			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9008C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610317	0.66558	.	.	ENSG00000196367	ENST00000359863	T	0.02709	4.19	5.48	5.48	0.80851	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.182486	0.35970	N	0.002870	T	0.04497	0.0123	.	.	.	0.80722	D	1	B	0.22346	0.068	B	0.26094	0.066	T	0.45977	-0.9224	9	0.48119	T	0.1	.	16.4958	0.84242	0.0:1.0:0.0:0.0	.	3003	Q9Y4A5	TRRAP_HUMAN	L	3003	ENSP00000352925:P3003L	ENSP00000352925:P3003L	P	+	2	0	TRRAP	98419025	.	.	0.996000	0.52242	0.995000	0.86356	.	.	2.571000	0.86741	0.650000	0.86243	CCG		0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		22	20	0	0	0	0.012319	0	22	20		
CYP3A5	1577	broad.mit.edu	37	7	99247765	99247765	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:99247765G>C	ENST00000222982.4	-	12	1443	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_Silent_p.L438L	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	448					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCATGTTCATGAGAGCAAACC	0.398																																						uc003urq.2		NaN																	0					0						c.(1342-1344)CTC>CTG		cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)						268.0	232.0	244.0					7																	99247765		2203	4300	6503	SO:0001819	synonymous_variant	1577				alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99247765G>C	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1344C>G	7.37:g.99247765G>C						ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.L268L|CYP3A5_uc003urr.2_Silent_p.L335L|CYP3A5_uc011kiy.1_Silent_p.L438L|CYP3A5_uc003urs.2_Silent_p.L96L|CYP3A5_uc010lgg.2_Silent_p.L54L	p.L448L	NM_000777	NP_000768	P20815	CP3A5_HUMAN			12	1431	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		448					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.1344C>G	CCDS5672.1																																																																																				0.398	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1				9	170	0	0	0	0.004482	0	9	170		
ZAN	7455	broad.mit.edu	37	7	100395059	100395059	+	RNA	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:100395059G>C	ENST00000348028.3	+	0	8229				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_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)			CGTGACCAGAGAGTGCATTTA	0.602																																						uc003uwj.2		NaN																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(8338-8340)GAG>CAG		zonadhesin isoform 3							83.0	78.0	79.0					7																	100395059		2009	4172	6181			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100395059G>C	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.100395059G>C						ZAN_uc003uwk.2_Missense_Mutation_p.E2689Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.E729Q	p.E2780Q	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		47	8503	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2780			VWFC 5.|Cytoplasmic (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.8338G>C		.	.	.	.	.	.	.	.	.	.	g	13.49	2.254083	0.39896	.	.	ENSG00000146839	ENST00000546292;ENST00000546213	T;T	0.22134	2.48;1.97	4.86	-3.11	0.05299	.	1.575620	0.04034	N	0.301900	T	0.14184	0.0343	.	.	.	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.12837	0.008;0.008;0.004	T	0.32481	-0.9905	9	0.51188	T	0.08	.	5.3801	0.16186	0.4151:0.3182:0.2666:0.0	.	1152;2688;2780	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	Q	2688;1152	ENSP00000445943:E2688Q;ENSP00000441117:E1152Q	ENSP00000441117:E1152Q	E	+	1	0	ZAN	100232995	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.466000	0.06672	-0.733000	0.04850	-0.832000	0.03076	GAG		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		24	39	0	0	0	0.005443	0	24	39		
VGF	7425	broad.mit.edu	37	7	100806828	100806828	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:100806828C>T	ENST00000249330.2	-	2	1536	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	VGF_ENST00000445482.2_Missense_Mutation_p.E433K	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	433	Asp/Glu-rich (acidic).				defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					tctgtcccctcggcctccttc	0.687																																						uc003uxx.3		NaN																	0					0						c.(1297-1299)GAG>AAG		VGF nerve growth factor inducible precursor							28.0	32.0	31.0					7																	100806828		2202	4300	6502	SO:0001583	missense	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100806828C>T	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1297G>A	7.37:g.100806828C>T	ENSP00000249330:p.Glu433Lys						p.E433K	NM_003378	NP_003369	O15240	VGF_HUMAN			2	1515	-	Lung NSC(181;0.168)|all_lung(186;0.215)		433			Asp/Glu-rich (acidic).		Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	37	c.1297G>A	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248399	0.10130	.	.	ENSG00000128564	ENST00000249330;ENST00000445482	.	.	.	4.12	3.24	0.37175	.	.	.	.	.	T	0.16685	0.0401	N	0.14661	0.345	0.27687	N	0.946243	P	0.34546	0.456	B	0.27500	0.08	T	0.11372	-1.0590	8	0.10111	T	0.7	-4.2723	8.6648	0.34114	0.0:0.8875:0.0:0.1125	.	433	O15240	VGF_HUMAN	K	433	.	ENSP00000249330:E433K	E	-	1	0	VGF	100593548	0.732000	0.28121	0.881000	0.34555	0.321000	0.28281	1.191000	0.32138	1.048000	0.40298	-0.263000	0.10527	GAG		0.687	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1		NM_003378		3	15	0	0	0	0.004672	0	3	15		
LRWD1	222229	broad.mit.edu	37	7	102106340	102106340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:102106340G>A	ENST00000292616.5	+	2	309	c.157G>A	c.(157-159)Gac>Aac	p.D53N	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	53					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCAGGAGCTTGACCTGTCTAA	0.622																																						uc003uzn.2		NaN																	0				skin(1)	1						c.(157-159)GAC>AAC		leucine-rich repeats and WD repeat domain							47.0	48.0	48.0					7																	102106340		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106340G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.157G>A	7.37:g.102106340G>A	ENSP00000292616:p.Asp53Asn					ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	p.D53N	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN			2	295	+			53			LRR 2.		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.157G>A	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066358	0.93898	.	.	ENSG00000161036	ENST00000292616	T	0.20332	2.08	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	N	0.25426	0.745	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.08597	-1.0714	10	0.44086	T	0.13	-4.7336	17.3718	0.87380	0.0:0.0:1.0:0.0	.	53	Q9UFC0	LRWD1_HUMAN	N	53	ENSP00000292616:D53N	ENSP00000292616:D53N	D	+	1	0	LRWD1	101893345	1.000000	0.71417	0.997000	0.53966	0.673000	0.39480	8.661000	0.91125	2.349000	0.79799	0.561000	0.74099	GAC		0.622	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1		NM_152892		24	42	0	0	0	0.00333	0	24	42		
RELN	5649	broad.mit.edu	37	7	103207108	103207108	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:103207108C>T	ENST00000428762.1	-	32	4846	c.4687G>A	c.(4687-4689)Gac>Aac	p.D1563N	RELN_ENST00000343529.5_Missense_Mutation_p.D1563N|RELN_ENST00000424685.2_Missense_Mutation_p.D1563N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1563					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTGGCAGGTCAATGGAAATG	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4687-4689)GAC>AAC		reelin isoform a							112.0	95.0	101.0					7																	103207108		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103207108C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4687G>A	7.37:g.103207108C>T	ENSP00000392423:p.Asp1563Asn					RELN_uc010liz.2_Missense_Mutation_p.D1563N	p.D1563N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	32	4847	-			1563					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4687G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772253	0.69992	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41065	1.81;1.01;1.81	6.08	6.08	0.98989	.	0.100816	0.64402	D	0.000002	T	0.27967	0.0689	N	0.04508	-0.205	0.52099	D	0.999942	B;B	0.25007	0.116;0.115	B;B	0.26770	0.073;0.041	T	0.09840	-1.0656	10	0.35671	T	0.21	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1563;1563	P78509-2;P78509	.;RELN_HUMAN	N	1563	ENSP00000392423:D1563N;ENSP00000345694:D1563N;ENSP00000388446:D1563N	ENSP00000345694:D1563N	D	-	1	0	RELN	102994344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.280000	0.78610	2.894000	0.99253	0.591000	0.81541	GAC		0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		33	73	0	0	0	0.010818	0	33	73		
COG5	10466	broad.mit.edu	37	7	106924162	106924162	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:106924162C>G	ENST00000347053.3	-	13	1472	c.1422G>C	c.(1420-1422)ttG>ttC	p.L474F	COG5_ENST00000393603.2_Missense_Mutation_p.L474F|COG5_ENST00000297135.3_Missense_Mutation_p.L474F	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	474					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GTGAGTCTTTCAAAGCCTTTT	0.368																																						uc003ved.2		NaN																	0				central_nervous_system(2)|skin(2)	4						c.(1420-1422)TTG>TTC		component of oligomeric golgi complex 5 isoform							115.0	129.0	124.0					7																	106924162		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106924162C>G	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1422G>C	7.37:g.106924162C>G	ENSP00000334703:p.Leu474Phe					COG5_uc003vec.2_Missense_Mutation_p.L474F|COG5_uc003vee.2_Missense_Mutation_p.L474F	p.L474F	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			13	1947	-			474					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.1422G>C	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552899	0.65425	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.65364	-0.15;-0.15;-0.15	5.57	2.56	0.30785	.	0.000000	0.64402	D	0.000001	T	0.74596	0.3737	M	0.78456	2.415	0.54753	D	0.999987	D;D	0.76494	0.984;0.999	P;D	0.76071	0.704;0.987	T	0.71787	-0.4487	10	0.33141	T	0.24	-7.8657	9.3723	0.38261	0.0:0.6908:0.0:0.3092	.	474;474	Q9UP83;Q9UP83-2	COG5_HUMAN;.	F	474	ENSP00000334703:L474F;ENSP00000297135:L474F;ENSP00000377228:L474F	ENSP00000297135:L474F	L	-	3	2	COG5	106711398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.776000	0.38594	0.716000	0.32124	0.563000	0.77884	TTG		0.368	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4				20	104	0	0	0	0.012319	0	20	104		
PPP1R3A	5506	broad.mit.edu	37	7	113518227	113518227	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:113518227C>T	ENST00000284601.3	-	4	2988	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	974					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAAACTTCTTCAGGTTTAGAC	0.378																																						uc010ljy.1		NaN																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2920-2922)GAA>AAA		protein phosphatase 1, regulatory (inhibitor)							90.0	90.0	90.0					7																	113518227		2202	4297	6499	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518227C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2920G>A	7.37:g.113518227C>T	ENSP00000284601:p.Glu974Lys						p.E974K	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2951	-			974					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2920G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.186	-1.057300	0.01965	.	.	ENSG00000154415	ENST00000284601	T	0.15603	2.41	5.31	3.39	0.38822	.	0.405991	0.23618	N	0.046280	T	0.14356	0.0347	L	0.55103	1.725	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.19745	-1.0296	10	0.22109	T	0.4	-8.178	6.5088	0.22210	0.0:0.5529:0.2593:0.1878	.	974	Q16821	PPR3A_HUMAN	K	974	ENSP00000284601:E974K	ENSP00000284601:E974K	E	-	1	0	PPP1R3A	113305463	0.013000	0.17824	0.450000	0.26969	0.178000	0.23041	-0.018000	0.12568	1.244000	0.43870	0.650000	0.86243	GAA		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		NM_002711		45	76	0	0	0	0.009718	0	45	76		
TFEC	22797	broad.mit.edu	37	7	115624399	115624399	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:115624399G>C	ENST00000265440.7	-	2	277	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	TFEC_ENST00000320239.7_Missense_Mutation_p.L33V|TFEC_ENST00000393485.1_Missense_Mutation_p.L33V|TFEC_ENST00000484212.1_Missense_Mutation_p.L123V	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	33	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCACTGTCCAGAGTTGTGTGT	0.468																																						uc003vhj.1		NaN																	0				large_intestine(1)	1						c.(97-99)CTG>GTG		transcription factor EC isoform a							196.0	177.0	183.0					7																	115624399		2203	4300	6503	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115624399G>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.97C>G	7.37:g.115624399G>C	ENSP00000265440:p.Leu33Val					TFEC_uc003vhk.1_Missense_Mutation_p.L33V|TFEC_uc003vhl.3_Missense_Mutation_p.L33V|TFEC_uc011kmw.1_Missense_Mutation_p.L123V	p.L33V	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	281	-			33			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.97C>G	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644875	0.29246	.	.	ENSG00000105967	ENST00000265440;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T	0.17370	2.28;2.34;2.59;2.51	5.09	3.22	0.36961	.	0.275088	0.34906	N	0.003589	T	0.06554	0.0168	N	0.08118	0	0.18873	N	0.999982	P;B;B;B	0.40431	0.717;0.152;0.066;0.049	B;B;B;B	0.29598	0.104;0.051;0.032;0.019	T	0.23547	-1.0185	10	0.62326	D	0.03	0.305	7.6965	0.28598	0.0892:0.1655:0.7453:0.0	.	123;33;33;33	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	V	33;33;33;123	ENSP00000265440:L33V;ENSP00000318676:L33V;ENSP00000377125:L33V;ENSP00000417432:L123V	ENSP00000265440:L33V	L	-	1	2	TFEC	115411635	0.470000	0.25854	0.000000	0.03702	0.127000	0.20565	1.385000	0.34408	0.607000	0.29982	0.655000	0.94253	CTG		0.468	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4		NM_012252		32	148	0	0	0	0.009535	0	32	148		
MET	4233	broad.mit.edu	37	7	116380132	116380132	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:116380132G>A	ENST00000318493.6	+	4	1708	c.1521G>A	c.(1519-1521)ggG>ggA	p.G507G	MET_ENST00000397752.3_Silent_p.G507G|MET_ENST00000436117.2_Silent_p.G507G|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTATCACTGGGAAGAAGGTAA	0.438			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2		NaN		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		0				upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(1519-1521)GGG>GGA		met proto-oncogene isoform b precursor							137.0	122.0	126.0					7																	116380132		1871	4096	5967	SO:0001819	synonymous_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116380132G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1521G>A	7.37:g.116380132G>A						MET_uc010lkh.2_Silent_p.G507G|MET_uc011knc.1_Silent_p.G507G|MET_uc011knd.1_Silent_p.G507G|MET_uc011kne.1_Silent_p.G507G|MET_uc011knf.1_Silent_p.G507G|MET_uc011kng.1_Silent_p.G507G|MET_uc011knh.1_Silent_p.G507G|MET_uc011kni.1_Silent_p.G507G|MET_uc011knj.1_Silent_p.G77G|MET_uc011kna.1_Silent_p.G507G|MET_uc011knb.1_Silent_p.G507G	p.G507G	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		4	1708	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	507			Extracellular (Potential).|Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.1521G>A	CCDS47689.1																																																																																				0.438	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3				7	135	0	0	0	0.001984	0	7	135		
GRM8	2918	broad.mit.edu	37	7	126542614	126542614	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:126542614G>A	ENST00000339582.2	-	6	1946	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	GRM8_ENST00000358373.3_Missense_Mutation_p.H380Y|GRM8_ENST00000405249.1_Missense_Mutation_p.H380Y|GRM8_ENST00000444921.2_Missense_Mutation_p.H380Y|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	380					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTCTTTATATGACTGTTCCTT	0.353										HNSCC(24;0.065)																												uc003vlr.2		NaN																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1138-1140)CAT>TAT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						67.0	68.0	68.0					7																	126542614		2203	4297	6500	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126542614G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1138C>T	7.37:g.126542614G>A	ENSP00000344173:p.His380Tyr	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.H380Y|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.H101Y	p.H380Y	NM_000845	NP_000836	O00222	GRM8_HUMAN			5	1449	-		Prostate(267;0.186)	380			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1138C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	5.727	0.318544	0.10845	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.88	4.88	0.63580	Extracellular ligand-binding receptor (1);	0.201011	0.47093	D	0.000249	T	0.72645	0.3486	N	0.10707	0.03	0.34267	D	0.680534	B;B;B	0.27416	0.004;0.027;0.178	B;B;B	0.37480	0.015;0.019;0.251	T	0.71457	-0.4587	10	0.08599	T	0.76	.	12.7604	0.57361	0.0:0.0:0.8247:0.1753	.	380;380;380	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	Y	380	ENSP00000344173:H380Y;ENSP00000409790:H380Y;ENSP00000351142:H380Y;ENSP00000385731:H380Y	ENSP00000344173:H380Y	H	-	1	0	GRM8	126329850	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.003000	0.49505	2.251000	0.74343	0.511000	0.50034	CAT		0.353	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4				6	64	0	0	0	0.00308	0	6	64		
TNPO3	23534	broad.mit.edu	37	7	128610354	128610354	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:128610354C>T	ENST00000265388.5	-	20	2589	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	TNPO3_ENST00000482320.1_Missense_Mutation_p.E750K|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000471166.1_Missense_Mutation_p.E850K|TNPO3_ENST00000393245.1_Missense_Mutation_p.E850K|TNPO3_ENST00000471234.1_Missense_Mutation_p.E752K			Q9Y5L0	TNPO3_HUMAN	transportin 3	816					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTCCGTAATTCAAAGTCTTCT	0.458																																					Pancreas(147;583 2585 39696 52331)	uc003vol.1		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(2446-2448)GAA>AAA		transportin 3							167.0	167.0	167.0					7																	128610354		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610354C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2446G>A	7.37:g.128610354C>T	ENSP00000265388:p.Glu816Lys					TNPO3_uc010llx.1_Missense_Mutation_p.E227K|TNPO3_uc003vom.1_Missense_Mutation_p.E750K|TNPO3_uc010lly.1_Missense_Mutation_p.E850K|TNPO3_uc010llz.1_Missense_Mutation_p.E752K	p.E816K	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			20	2820	-			816					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.2446G>A	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398998	0.83120	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	.	.	.	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	N	0.14661	0.345	0.80722	D	1	B;B;B;P	0.34800	0.045;0.411;0.404;0.469	B;B;B;B	0.32980	0.021;0.118;0.156;0.101	T	0.19910	-1.0291	9	0.08381	T	0.77	.	17.5288	0.87808	0.0:1.0:0.0:0.0	.	752;850;816;816	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	K	850;816;750;752;850	.	ENSP00000265388:E816K	E	-	1	0	TNPO3	128397590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.747000	0.85070	2.742000	0.94016	0.655000	0.94253	GAA		0.458	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1		NM_012470		34	183	0	0	0	0.013726	0	34	183		
CLEC5A	23601	broad.mit.edu	37	7	141645174	141645174	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:141645174C>T	ENST00000546910.1	-	3	302	c.106G>A	c.(106-108)Gat>Aat	p.D36N	CLEC5A_ENST00000551012.2_Missense_Mutation_p.D36N|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.D36N|CLEC5A_ENST00000439991.1_5'UTR	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	36					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTGAAACCATCGTTACTTTTG	0.438																																					GBM(154;1592 2613 3360 42983)	uc003vwv.1		NaN																	0					0						c.(106-108)GAT>AAT		C-type lectin, superfamily member 5							153.0	153.0	153.0					7																	141645174		2203	4300	6503	SO:0001583	missense	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141645174C>T		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.106G>A	7.37:g.141645174C>T	ENSP00000449999:p.Asp36Asn					CLEC5A_uc011krm.1_Missense_Mutation_p.D36N|CLEC5A_uc003vww.1_Missense_Mutation_p.D36N|CLEC5A_uc010lnq.1_Missense_Mutation_p.D36N|CLEC5A_uc010lnr.1_RNA	p.D36N	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN			3	303	-	Melanoma(164;0.0171)		36			Extracellular (Potential).		Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	c.106G>A	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565740	0.27915	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000438351	T;T;T	0.16196	4.54;2.36;2.36	4.26	0.276	0.15663	.	1.094260	0.06948	N	0.813988	T	0.07999	0.0200	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.13145	0.004;0.004;0.007;0.004	B;B;B;B	0.08055	0.001;0.001;0.003;0.001	T	0.40869	-0.9540	10	0.16896	T	0.51	0.292	3.5952	0.08003	0.3411:0.4665:0.0:0.1924	.	36;36;36;36	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	N	36	ENSP00000449999:D36N;ENSP00000446890:D36N;ENSP00000414897:D36N	ENSP00000265306:D36N	D	-	1	0	CLEC5A	141291643	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.395000	0.07287	0.036000	0.15547	-0.137000	0.14449	GAT		0.438	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1		NM_013252		27	54	0	0	0	0.003954	0	27	54		
TRPV6	55503	broad.mit.edu	37	7	142569636	142569636	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:142569636C>T	ENST00000359396.3	-	15	2247	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	668					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCCCAGCTCTAGTTTTTCC	0.582																																						uc003wbx.1		NaN																	0				ovary(2)	2						c.(2002-2004)GAG>AAG		transient receptor potential cation channel,							86.0	89.0	88.0					7																	142569636		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569636C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2002G>A	7.37:g.142569636C>T	ENSP00000352358:p.Glu668Lys					TRPV6_uc003wbw.1_Missense_Mutation_p.E454K|TRPV6_uc010lou.1_Missense_Mutation_p.E539K	p.E668K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			15	2218	-	Melanoma(164;0.059)		668			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.2002G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	8.043	0.764318	0.15914	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.43294	0.95	5.41	1.17	0.20885	.	1.418920	0.04116	N	0.315512	T	0.35307	0.0927	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29181	-1.0020	10	0.35671	T	0.21	-1.448	10.4806	0.44691	0.1343:0.5789:0.2868:0.0	.	668	Q9H1D0	TRPV6_HUMAN	K	668;500	ENSP00000352358:E668K	ENSP00000310825:E500K	E	-	1	0	TRPV6	142279758	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.376000	0.20535	-0.066000	0.12998	0.561000	0.74099	GAG		0.582	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1		NM_014274		17	57	0	0	0	0.00499	0	17	57		
CNTNAP2	26047	broad.mit.edu	37	7	147869504	147869504	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:147869504G>C	ENST00000361727.3	+	18	3460	c.2944G>C	c.(2944-2946)Gag>Cag	p.E982Q	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.E41Q	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	982	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAAATGCCTAGAGAGATACCA	0.473										HNSCC(39;0.1)																												uc003weu.1		NaN																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2944-2946)GAG>CAG		cell recognition molecule Caspr2 precursor							145.0	141.0	142.0					7																	147869504		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869504G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2944G>C	7.37:g.147869504G>C	ENSP00000354778:p.Glu982Gln	HNSCC(39;0.1)					p.E982Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3460	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	982			EGF-like 2.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2944G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089359	0.55968	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.69561	-0.41;-0.41	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	L	0.48260	1.515	0.58432	D	0.999997	D	0.61080	0.989	D	0.64687	0.928	T	0.71797	-0.4484	10	0.29301	T	0.29	.	17.4971	0.87720	0.0:0.0:1.0:0.0	.	982	Q9UHC6	CNTP2_HUMAN	Q	982;41	ENSP00000354778:E982Q;ENSP00000440732:E41Q	ENSP00000354778:E982Q	E	+	1	0	CNTNAP2	147500437	1.000000	0.71417	0.523000	0.27875	0.013000	0.08279	9.694000	0.98686	2.483000	0.83821	0.563000	0.77884	GAG		0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				26	119	0	0	0	0.00333	0	26	119		
ZNF777	27153	broad.mit.edu	37	7	149129350	149129350	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:149129350C>T	ENST00000247930.4	-	6	2336	c.2013G>A	c.(2011-2013)aaG>aaA	p.K671K		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCGGAAGCTCTTCTTGCACT	0.622																																						uc003wfv.2		NaN																	0				skin(1)	1						c.(2011-2013)AAG>AAA		zinc finger protein 777							80.0	91.0	88.0					7																	149129350		2190	4288	6478	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129350C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2013G>A	7.37:g.149129350C>T							p.K671K	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2176	-	Melanoma(164;0.165)		671			C2H2-type 4.		Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.2013G>A	CCDS43675.1																																																																																				0.622	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		30	133	0	0	0	0.007291	0	30	133		
CRYGN	155051	broad.mit.edu	37	7	151135092	151135092	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:151135092G>T	ENST00000337323.2	-	2	386	c.260C>A	c.(259-261)cCt>cAt	p.P87H	CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Missense_Mutation_p.P87H|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	87	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATTCCTACAGGCCGACAGGA	0.642																																						uc003wke.2		NaN																	0					0						c.(259-261)CCT>CAT		gammaN-crystallin							47.0	51.0	49.0					7																	151135092		2203	4300	6503	SO:0001583	missense	155051							g.chr7:151135092G>T	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.260C>A	7.37:g.151135092G>T	ENSP00000338613:p.Pro87His					CRYGN_uc003wkf.2_Missense_Mutation_p.P87H|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	p.P87H	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	356	-			87			Beta/gamma crystallin 'Greek key' 2.		Q496G6	Missense_Mutation	SNP	ENST00000337323.2	37	c.260C>A	CCDS5926.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151734	0.78001	.	.	ENSG00000127377	ENST00000337323	T	0.78707	-1.2	5.05	4.15	0.48705	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87720	0.2572	10	0.32370	T	0.25	.	12.959	0.58447	0.0802:0.0:0.9198:0.0	.	87;87	Q8WXF5-2;Q8WXF5	.;CRGN_HUMAN	H	87	ENSP00000338613:P87H	ENSP00000338613:P87H	P	-	2	0	CRYGN	150766025	1.000000	0.71417	0.965000	0.40720	0.968000	0.65278	9.316000	0.96319	2.337000	0.79520	0.462000	0.41574	CCT		0.642	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1				16	52	1	0	3.45872e-05	0.004007	3.5642e-05	16	52		
KMT2C	58508	broad.mit.edu	37	7	151860518	151860518	+	Missense_Mutation	SNP	G	G	A	rs375738474		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:151860518G>A	ENST00000262189.6	-	43	10362	c.10144C>T	c.(10144-10146)Cgg>Tgg	p.R3382W	KMT2C_ENST00000355193.2_Missense_Mutation_p.R3382W	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3382	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AATTCTACCCGAGGTGGTGGT	0.458																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(10144-10146)CGG>TGG		myeloid/lymphoid or mixed-lineage leukemia 3		G	TRP/ARG	0,4406		0,0,2203	108.0	108.0	108.0		10144	4.3	1.0	7		108	2,8598	2.2+/-6.3	0,2,4298	no	missense	MLL3	NM_170606.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	3382/4912	151860518	2,13004	2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151860518G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10144C>T	7.37:g.151860518G>A	ENSP00000262189:p.Arg3382Trp					MLL3_uc003wkz.2_Missense_Mutation_p.R2443W|MLL3_uc003wky.2_Missense_Mutation_p.R891W	p.R3382W	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	43	10363	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3382			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10144C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.78|13.78	2.340378|2.340378	0.41498|0.41498	0.0|0.0	2.33E-4|2.33E-4	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.84442|.	-1.85;-1.84|.	5.28|5.28	4.31|4.31	0.51392|0.51392	.|.	0.000000|.	0.41194|.	D|.	0.000940|.	T|T	0.69196|0.69196	0.3084|0.3084	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.77004|.	0.981;0.989;0.932|.	T|T	0.67891|0.67891	-0.5553|-0.5553	10|5	0.38643|.	T|.	0.18|.	.|.	14.9375|14.9375	0.70967|0.70967	0.0:0.0:0.7832:0.2168|0.0:0.0:0.7832:0.2168	.|.	3382;2443;3382|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	W|L	3382|887	ENSP00000262189:R3382W;ENSP00000347325:R3382W|.	ENSP00000262189:R3382W|.	R|S	-|-	1|2	2|0	MLL3|MLL3	151491451|151491451	0.888000|0.888000	0.30383|0.30383	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.987000|1.987000	0.40687|0.40687	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				63	108	0	0	0	0.01441	0	63	108		
PTPRN2	5799	broad.mit.edu	37	7	158282442	158282442	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:158282442C>T	ENST00000389418.4	-	2	157	c.148G>A	c.(148-150)Gag>Aag	p.E50K	PTPRN2_ENST00000389413.3_Missense_Mutation_p.E50K|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E73K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E50K	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	50					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACACAGGCCTCGGACGCTCCG	0.731																																						uc003wno.2		NaN																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(148-150)GAG>AAG		protein tyrosine phosphatase, receptor type, N							20.0	19.0	19.0					7																	158282442		2173	4270	6443	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:158282442C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.148G>A	7.37:g.158282442C>T	ENSP00000374069:p.Glu50Lys					PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Missense_Mutation_p.E50K|PTPRN2_uc003wnr.2_Missense_Mutation_p.E50K|PTPRN2_uc011kwa.1_Missense_Mutation_p.E73K	p.E50K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	2	269	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	50			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.148G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419113	0.25552	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389418;ENST00000404321	T;T;T;T	0.06371	3.78;3.37;3.39;3.31	4.48	4.48	0.54585	.	.	.	.	.	T	0.19167	0.0460	L	0.49126	1.545	0.33277	D	0.561812	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.991;0.996;0.991	T	0.06917	-1.0800	9	0.72032	D	0.01	.	13.0308	0.58840	0.0:1.0:0.0:0.0	.	73;50;50;50	Q92932-3;E7EM83;Q92932-2;Q92932	.;.;.;PTPR2_HUMAN	K	50;50;50;73	ENSP00000387114:E50K;ENSP00000374064:E50K;ENSP00000374069:E50K;ENSP00000385464:E73K	ENSP00000374064:E50K	E	-	1	0	PTPRN2	157975203	0.976000	0.34144	0.228000	0.23943	0.002000	0.02628	3.308000	0.51896	2.187000	0.69744	0.585000	0.79938	GAG		0.731	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1				4	5	0	0	0	0.009096	0	4	5		
CSMD1	64478	broad.mit.edu	37	8	2832056	2832056	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:2832056C>G	ENST00000520002.1	-	57	9215	c.8660G>C	c.(8659-8661)aGa>aCa	p.R2887T	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2886T|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2887T|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2829T|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2828T|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2829T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2887	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCGCTCCCTCTGCAGGAGTA	0.597																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(8659-8661)AGA>ACA		CUB and Sushi multiple domains 1 precursor							48.0	51.0	50.0					8																	2832056		2017	4182	6199	SO:0001583	missense	64478					integral to membrane		g.chr8:2832056C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8660G>C	8.37:g.2832056C>G	ENSP00000430733:p.Arg2887Thr					CSMD1_uc011kwj.1_Missense_Mutation_p.R2216T|CSMD1_uc010lrg.2_Missense_Mutation_p.R897T	p.R2887T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	56	9050	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2887			Sushi 21.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8660G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.105|0.105	-1.146626|-1.146626	0.01714|0.01714	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14	5.66|5.66	-2.65|-2.65	0.06095|0.06095	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.539764	.|0.18824	.|N	.|0.130164	T|T	0.21761|0.21761	0.0524|0.0524	N|N	0.01152|0.01152	-0.98|-0.98	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.006;0.0;0.0	.|B;B;B	.|0.17979	.|0.02;0.0;0.001	T|T	0.27123|0.27123	-1.0083|-1.0083	5|10	.|0.12103	.|T	.|0.63	.|.	3.0634|3.0634	0.06206|0.06206	0.1879:0.4414:0.1678:0.2029|0.1879:0.4414:0.1678:0.2029	.|.	.|2887;2887;2828	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	H|T	2303|2829;2887;2748;2886;2828	.|ENSP00000383047:R2829T;ENSP00000430733:R2887T;ENSP00000441462:R2886T;ENSP00000446243:R2828T	.|ENSP00000320445:R2748T	Q|R	-|-	3|2	2|0	CSMD1|CSMD1	2819463|2819463	0.053000|0.053000	0.20554|0.20554	0.068000|0.068000	0.19968|0.19968	0.030000|0.030000	0.12068|0.12068	0.682000|0.682000	0.25335|0.25335	-0.393000|-0.393000	0.07739|0.07739	-0.302000|-0.302000	0.09304|0.09304	CAG|AGA		0.597	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		12	16	0	0	0	0.010729	0	12	16		
NEIL2	252969	broad.mit.edu	37	8	11637344	11637344	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:11637344G>C	ENST00000284503.6	+	3	975	c.376G>C	c.(376-378)Gat>Cat	p.D126H	NEIL2_ENST00000455213.2_Missense_Mutation_p.D126H|NEIL2_ENST00000403422.3_Missense_Mutation_p.D65H|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Missense_Mutation_p.D126H	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	126					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CCCTGCAGGAGATGCTGGGAG	0.577								Base excision repair (BER), DNA glycosylases																														uc003wug.2		NaN																	0					0						c.(376-378)GAT>CAT	BER_DNA_glycosylases	nei like 2 isoform a							83.0	82.0	82.0					8																	11637344		2203	4300	6503	SO:0001583	missense	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637344G>C	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.376G>C	8.37:g.11637344G>C	ENSP00000284503:p.Asp126His					NEIL2_uc003wue.2_Missense_Mutation_p.D126H|NEIL2_uc003wuf.2_Missense_Mutation_p.D65H|NEIL2_uc011kxd.1_Intron	p.D126H	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	1051	+	all_epithelial(15;0.103)		126					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	c.376G>C	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227183	0.39399	.	.	ENSG00000154328	ENST00000530433;ENST00000455213;ENST00000403422;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T	0.15718	2.4;3.48;2.4;2.4	4.98	-0.192	0.13248	DNA glycosylase/AP lyase, catalytic domain (2);	0.693613	0.15274	N	0.271054	T	0.10680	0.0261	N	0.11427	0.14	0.09310	N	1	P	0.49696	0.927	P	0.49140	0.601	T	0.23833	-1.0177	10	0.34782	T	0.22	-21.0451	6.6073	0.22731	0.2142:0.2396:0.5463:0.0	.	126	Q969S2	NEIL2_HUMAN	H	126;126;65;126;126;111	ENSP00000397538:D126H;ENSP00000384070:D65H;ENSP00000394023:D126H;ENSP00000284503:D126H	ENSP00000284503:D126H	D	+	1	0	NEIL2	11674753	0.001000	0.12720	0.000000	0.03702	0.049000	0.14656	0.606000	0.24194	-0.025000	0.13918	0.561000	0.74099	GAT		0.577	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3		NM_145043		16	83	0	0	0	0.003163	0	16	83		
PCM1	5108	broad.mit.edu	37	8	17813070	17813070	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:17813070C>T	ENST00000519253.1	+	10	1631	c.1380C>T	c.(1378-1380)agC>agT	p.S460S	PCM1_ENST00000518537.1_Silent_p.S499S|PCM1_ENST00000524226.1_Silent_p.S460S|PCM1_ENST00000325083.8_Silent_p.S460S			Q15154	PCM1_HUMAN	pericentriolar material 1	460					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AATCCAATAGCCTCACATCAT	0.458			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3		NaN		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(1378-1380)AGC>AGT		pericentriolar material 1							97.0	92.0	94.0					8																	17813070		1926	4131	6057	SO:0001819	synonymous_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17813070C>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1380C>T	8.37:g.17813070C>T						PCM1_uc011kyh.1_Silent_p.S460S|PCM1_uc003wyj.3_Silent_p.S460S|PCM1_uc003wyh.2_Silent_p.S499S|PCM1_uc010lta.1_Silent_p.S499S	p.S460S	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	10	1802	+			460					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37	c.1380C>T																																																																																					0.458	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1		NM_006197		7	23	0	0	0	0.00308	0	7	23		
ADAM18	8749	broad.mit.edu	37	8	39537620	39537620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:39537620C>T	ENST00000265707.5	+	16	1741	c.1696C>T	c.(1696-1698)Caa>Taa	p.Q566*	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.Q542*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	566	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q566*(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AAGTGACGCTCAATCTACAGT	0.383																																						uc003xni.2		NaN																	1	Substitution - Nonsense(1)		NS(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1696-1698)CAA>TAA		a disintegrin and metalloprotease domain 18							114.0	102.0	106.0					8																	39537620		2203	4300	6503	SO:0001587	stop_gained	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39537620C>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1696C>T	8.37:g.39537620C>T	ENSP00000265707:p.Gln566*					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Nonsense_Mutation_p.Q542*	p.Q566*	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		16	1696	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	566			Cys-rich.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	ENST00000265707.5	37	c.1696C>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648054	0.87958	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	.	.	.	3.98	0.902	0.19290	.	1.093570	0.07159	N	0.850419	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.0215	0.24916	0.1872:0.4484:0.3644:0.0	.	.	.	.	X	566;542;498	.	ENSP00000265707:Q566X	Q	+	1	0	ADAM18	39656777	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.345000	0.19979	0.179000	0.19938	0.655000	0.94253	CAA		0.383	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1		NM_014237		7	91	0	0	0	0.001984	0	7	91		
KAT6A	7994	broad.mit.edu	37	8	41906305	41906305	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:41906305G>C	ENST00000396930.3	-	3	734	c.191C>G	c.(190-192)tCa>tGa	p.S64*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.S64*|KAT6A_ENST00000485568.1_Nonsense_Mutation_p.S64*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.S64*	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	64	Required for activation of RUNX1-1.|Required for nuclear localization.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCCTTTATTTGAGACTTTTAA	0.368																																						uc010lxb.2		NaN																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(190-192)TCA>TGA		MYST histone acetyltransferase (monocytic							171.0	168.0	169.0					8																	41906305		2203	4300	6503	SO:0001587	stop_gained	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41906305G>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.191C>G	8.37:g.41906305G>C	ENSP00000380136:p.Ser64*					MYST3_uc010lxc.2_Nonsense_Mutation_p.S64*|MYST3_uc003xon.3_Nonsense_Mutation_p.S64*|MYST3_uc010lxd.2_Nonsense_Mutation_p.S64*	p.S64*	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		3	735	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	64			Required for activation of RUNX1-1.|Required for nuclear localization.		Q76L81	Nonsense_Mutation	SNP	ENST00000396930.3	37	c.191C>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	40	7.972236	0.98588	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	.	.	.	5.66	5.66	0.87406	.	0.106722	0.42172	D	0.000758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-13.388	19.7395	0.96220	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000265713:S64X	S	-	2	0	KAT6A	42025462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.335000	0.96500	2.669000	0.90835	0.655000	0.94253	TCA		0.368	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		NM_006766		28	206	0	0	0	0.005443	0	28	206		
DKK4	27121	broad.mit.edu	37	8	42232338	42232338	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:42232338G>A	ENST00000220812.2	-	3	542	c.356C>T	c.(355-357)cCa>cTa	p.P119L		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	119					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TTCCTGGACTGGGTGCCCAGT	0.443																																						uc003xpb.2		NaN																	0				ovary(1)	1						c.(355-357)CCA>CTA		dickkopf homolog 4 precursor							298.0	271.0	280.0					8																	42232338		2203	4300	6503	SO:0001583	missense	27121				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr8:42232338G>A	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.356C>T	8.37:g.42232338G>A	ENSP00000220812:p.Pro119Leu						p.P119L	NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		3	467	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	119					Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	c.356C>T	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682865	0.29872	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.29397	1.57	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000020	T	0.29556	0.0737	L	0.34521	1.04	0.20821	N	0.999845	D	0.54047	0.964	P	0.45310	0.476	T	0.20140	-1.0284	10	0.66056	D	0.02	-13.2023	14.8152	0.70028	0.0:0.0:1.0:0.0	.	119	Q9UBT3	DKK4_HUMAN	L	119	ENSP00000220812:P119L	ENSP00000220812:P119L	P	-	2	0	DKK4	42351495	0.922000	0.31269	0.053000	0.19242	0.007000	0.05969	3.171000	0.50824	2.625000	0.88918	0.650000	0.86243	CCA		0.443	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1				71	222	0	0	0	0.01441	0	71	222		
ARFGEF1	10565	broad.mit.edu	37	8	68211501	68211501	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:68211501T>C	ENST00000262215.3	-	4	791	c.402A>G	c.(400-402)atA>atG	p.I134M		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	134	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGCAGCCACATATTGTTTCAA	0.338																																						uc003xxo.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(400-402)ATA>ATG		brefeldin A-inhibited guanine							60.0	59.0	59.0					8																	68211501		2203	4298	6501	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68211501T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.402A>G	8.37:g.68211501T>C	ENSP00000262215:p.Ile134Met						p.I134M	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		4	792	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	134					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.402A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005195	0.74932	.	.	ENSG00000066777	ENST00000262215	T	0.36878	1.23	5.15	-0.473	0.12112	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	M	0.87971	2.92	0.80722	D	1	D	0.56746	0.977	P	0.60345	0.873	T	0.51818	-0.8657	10	0.87932	D	0	.	5.8485	0.18679	0.3428:0.0:0.2168:0.4405	.	134	Q9Y6D6	BIG1_HUMAN	M	134	ENSP00000262215:I134M	ENSP00000262215:I134M	I	-	3	3	ARFGEF1	68374055	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.137000	0.31479	-0.252000	0.09528	0.533000	0.62120	ATA		0.338	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421		8	15	0	0	0	0.00308	0	8	15		
ZFHX4	79776	broad.mit.edu	37	8	77766229	77766229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:77766229C>T	ENST00000521891.2	+	10	7520	c.7072C>T	c.(7072-7074)Caa>Taa	p.Q2358*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q2313*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q2313*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q2332*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2313	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCACTGATCAAGTGGTATA	0.493										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6937-6939)CAA>TAA		zinc finger homeodomain 4							184.0	175.0	178.0					8																	77766229		2051	4192	6243	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766229C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7072C>T	8.37:g.77766229C>T	ENSP00000430497:p.Gln2358*	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Nonsense_Mutation_p.Q2358*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q2313*	p.Q2313*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7324	+			2313					G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.6937C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	49	16.024661	0.99852	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.02	5.02	0.67125	.	0.000000	0.42821	U	0.000655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	18.5414	0.91029	0.0:1.0:0.0:0.0	.	.	.	.	X	2358;2342;2313;2313;2332	.	ENSP00000050961:Q2313X	Q	+	1	0	ZFHX4	77928784	1.000000	0.71417	0.706000	0.30403	0.944000	0.59088	5.893000	0.69798	2.611000	0.88343	0.650000	0.86243	CAA		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		29	136	0	0	0	0.009535	0	29	136		
DCAF4L2	138009	broad.mit.edu	37	8	88885613	88885613	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:88885613G>A	ENST00000319675.3	-	1	683	c.587C>T	c.(586-588)gCg>gTg	p.A196V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGAGTGATACGCGTGGATGCT	0.557																																						uc003ydz.2		NaN																	0				ovary(1)	1						c.(586-588)GCG>GTG		WD repeat domain 21C							166.0	147.0	153.0					8																	88885613		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885613G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.587C>T	8.37:g.88885613G>A	ENSP00000316496:p.Ala196Val						p.A196V	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	684	-			196						Missense_Mutation	SNP	ENST00000319675.3	37	c.587C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	3.066	-0.192178	0.06299	.	.	ENSG00000176566	ENST00000319675	T	0.70631	-0.5	1.39	0.342	0.15996	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.277345	0.41938	D	0.000784	T	0.55081	0.1898	L	0.52364	1.645	0.09310	N	1	P	0.39352	0.669	B	0.36808	0.233	T	0.44483	-0.9325	10	0.23891	T	0.37	.	5.2186	0.15356	0.0:0.3721:0.6279:0.0	.	196	Q8NA75	DC4L2_HUMAN	V	196	ENSP00000316496:A196V	ENSP00000316496:A196V	A	-	2	0	DCAF4L2	88954729	1.000000	0.71417	0.000000	0.03702	0.009000	0.06853	2.161000	0.42358	-0.111000	0.12001	0.467000	0.42956	GCG		0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1		NM_152418		42	77	0	0	0	0.007835	0	42	77		
KIAA1429	25962	broad.mit.edu	37	8	95556077	95556077	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:95556077G>A	ENST00000297591.5	-	2	232	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	KIAA1429_ENST00000437199.1_Silent_p.L53L|AC023632.1_ENST00000391679.1_5'Flank|KIAA1429_ENST00000421249.2_Silent_p.L53L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	53					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTGTCTGGCAGACTGCTATGG	0.358																																						uc003ygo.1		NaN																	0				ovary(1)|skin(1)	2						c.(157-159)CTG>TTG		hypothetical protein LOC25962 isoform 1							140.0	154.0	149.0					8																	95556077		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95556077G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.157C>T	8.37:g.95556077G>A						KIAA1429_uc003ygp.2_Silent_p.L53L	p.L53L	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		2	170	-	Breast(36;3.29e-05)		53					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.157C>T	CCDS34923.1																																																																																				0.358	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2		NM_015496		38	166	0	0	0	0.00874	0	38	166		
VPS13B	157680	broad.mit.edu	37	8	100866426	100866426	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:100866426G>A	ENST00000358544.2	+	56	10995	c.10884G>A	c.(10882-10884)gcG>gcA	p.A3628A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.A3603A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3628					protein transport (GO:0015031)			p.A3603A(1)|p.A3628A(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACCACTGCGAGGCAGCTTG	0.562																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10882-10884)GCG>GCA		vacuolar protein sorting 13B isoform 5							99.0	79.0	86.0					8																	100866426		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866426G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10884G>A	8.37:g.100866426G>A						VPS13B_uc003yiw.2_Silent_p.A3603A	p.A3628A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10995	+	Breast(36;3.73e-07)		3628					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10884G>A	CCDS6280.1																																																																																				0.562	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		4	47	0	0	0	0.000602	0	4	47		
OC90	729330	broad.mit.edu	37	8	133053363	133053363	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:133053363C>G	ENST00000443356.2	-	6	471	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	OC90_ENST00000254627.3_Missense_Mutation_p.E129Q|OC90_ENST00000603859.1_Missense_Mutation_p.E129Q|OC90_ENST00000262283.5_Missense_Mutation_p.E325Q			Q02509	OC90_HUMAN	otoconin 90	129	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAGTCCATCTCAGCGGCCTCC	0.587																																						uc003ytg.2		NaN																	0				ovary(2)|skin(1)	3						c.(337-339)GAG>CAG		otoconin 90							114.0	113.0	113.0					8																	133053363		1963	4158	6121	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053363C>G	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.385G>C	8.37:g.133053363C>G	ENSP00000390050:p.Glu129Gln					OC90_uc011lix.1_Missense_Mutation_p.E129Q	p.E113Q	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		4	337	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		129			Phospholipase A2-like 1.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.337G>C		.	.	.	.	.	.	.	.	.	.	C	23.8	4.456045	0.84209	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26810	1.71;1.71;1.71	5.61	5.61	0.85477	Phospholipase A2 (3);	0.329841	0.28057	N	0.016766	T	0.41994	0.1183	L	0.36672	1.1	0.42249	D	0.991961	D;D	0.64830	0.993;0.994	P;D	0.65140	0.888;0.932	T	0.15292	-1.0442	10	0.54805	T	0.06	-12.4969	18.6744	0.91524	0.0:1.0:0.0:0.0	.	129;129	Q02509-2;Q02509	.;OC90_HUMAN	Q	129;129;325	ENSP00000254627:E129Q;ENSP00000390050:E129Q;ENSP00000262283:E325Q	ENSP00000254627:E129Q	E	-	1	0	RP11-240B13.2;OC90	133122545	0.999000	0.42202	0.787000	0.31911	0.971000	0.66376	5.457000	0.66672	2.669000	0.90835	0.585000	0.79938	GAG		0.587	OC90-201	KNOWN	basic	protein_coding	protein_coding			NM_001080399		21	81	0	0	0	0.007291	0	21	81		
COL22A1	169044	broad.mit.edu	37	8	139701194	139701194	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:139701194C>A	ENST00000303045.6	-	37	3274	c.2828G>T	c.(2827-2829)gGc>gTc	p.G943V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G943V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	943	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G943V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCTGGGGTGCCTCTGAGGCC	0.512										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2827-2829)GGC>GTC		collagen, type XXII, alpha 1							137.0	122.0	127.0					8																	139701194		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139701194C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2828G>T	8.37:g.139701194C>A	ENSP00000303153:p.Gly943Val	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G243V	p.G943V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		37	3275	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		943			Pro-rich.|Gly-rich.|Collagen-like 8.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2828G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671250	0.29693	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.53;-5.77	3.85	3.85	0.44370	.	0.000000	0.49305	U	0.000157	D	0.99560	0.9842	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97912	1.0309	10	0.87932	D	0	.	11.47	0.50264	0.0:1.0:0.0:0.0	.	943;943	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	943;943;656	ENSP00000303153:G943V;ENSP00000387655:G943V	ENSP00000303153:G943V	G	-	2	0	COL22A1	139770376	0.999000	0.42202	1.000000	0.80357	0.451000	0.32288	3.296000	0.51802	2.150000	0.67090	0.542000	0.68232	GGC		0.512	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		12	66	1	0	1.15088e-07	0.004007	1.19945e-07	12	66		
TSNARE1	203062	broad.mit.edu	37	8	143396398	143396398	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:143396398G>A	ENST00000307180.3	-	8	1157	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	TSNARE1_ENST00000520166.1_Missense_Mutation_p.S346L|TSNARE1_ENST00000519651.1_Missense_Mutation_p.S127L|TSNARE1_ENST00000524325.1_Missense_Mutation_p.S346L|TSNARE1_ENST00000518928.1_5'UTR	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	347					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AATGGCATCTGAGAGCTGGGT	0.647																																						uc003ywk.2		NaN																	0					0						c.(1039-1041)TCA>TTA		t-SNARE domain containing 1							126.0	90.0	102.0					8																	143396398		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143396398G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1040C>T	8.37:g.143396398G>A	ENSP00000303437:p.Ser347Leu					TSNARE1_uc011lju.1_Missense_Mutation_p.S346L|TSNARE1_uc003ywj.2_Missense_Mutation_p.S347L|TSNARE1_uc003ywl.3_Missense_Mutation_p.S127L	p.S347L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			8	1158	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		347					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.1040C>T	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	G	6.195	0.404194	0.11754	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.49	2.25	0.28309	t-SNARE (1);	0.340546	0.16202	U	0.224891	T	0.26557	0.0649	M	0.74258	2.255	0.09310	N	1	B;P;B;B	0.42409	0.176;0.779;0.176;0.176	B;B;B;B	0.32149	0.039;0.141;0.039;0.039	T	0.20107	-1.0285	10	0.49607	T	0.09	.	7.1764	0.25747	0.2543:0.0:0.7457:0.0	.	346;127;347;347	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	L	346;347;346;127	ENSP00000428763:S346L;ENSP00000303437:S347L;ENSP00000427770:S346L;ENSP00000429679:S127L	ENSP00000303437:S347L	S	-	2	0	TSNARE1	143394305	0.037000	0.19845	0.002000	0.10522	0.005000	0.04900	0.820000	0.27323	0.859000	0.35456	0.650000	0.86243	TCA		0.647	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_145003		11	72	0	0	0	0.013537	0	11	72		
GLI4	2738	broad.mit.edu	37	8	144358969	144358969	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:144358969G>C	ENST00000523522.1	+	3	1165	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	GLI4_ENST00000340042.1_Missense_Mutation_p.E376Q|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	376					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACTACCGCGAGTAGCCGGG	0.736																																						uc003yxx.2		NaN																	0					0						c.(1126-1128)GAG>CAG		GLI-Kruppel family member GLI4							5.0	6.0	5.0					8																	144358969		1993	4025	6018	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358969G>C		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.1126G>C	8.37:g.144358969G>C	ENSP00000430987:p.Glu376Gln					ZFP41_uc003yxv.2_RNA	p.E376Q	NM_138465	NP_612474	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	1211	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		376					Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.1126G>C	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838606	0.51057	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.08896	3.04;3.04	3.68	3.68	0.42216	Zinc finger, C2H2 (1);	.	.	.	.	T	0.17704	0.0425	M	0.75085	2.285	0.22412	N	0.999123	D	0.57257	0.979	P	0.49361	0.608	T	0.06232	-1.0838	9	0.87932	D	0	.	11.1037	0.48190	0.0:0.0:1.0:0.0	.	376	P10075	GLI4_HUMAN	Q	376	ENSP00000345024:E376Q;ENSP00000430987:E376Q	ENSP00000345024:E376Q	E	+	1	0	GLI4	144430344	0.217000	0.23597	0.996000	0.52242	0.225000	0.24961	0.413000	0.21148	2.041000	0.60428	0.563000	0.77884	GAG		0.736	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2				3	7	0	0	0	0.004672	0	3	7		
SCRIB	23513	broad.mit.edu	37	8	144889748	144889748	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:144889748C>G	ENST00000320476.3	-	16	2158	c.2152G>C	c.(2152-2154)Gag>Cag	p.E718Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.E637Q|SCRIB_ENST00000356994.2_Missense_Mutation_p.E718Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	718	Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGAGCAGGCTCTATCAGCAGG	0.617																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NaN																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(2152-2154)GAG>CAG		scribble isoform b							184.0	145.0	158.0					8																	144889748		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144889748C>G	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2152G>C	8.37:g.144889748C>G	ENSP00000322938:p.Glu718Gln					SCRIB_uc003yzo.1_Missense_Mutation_p.E718Q	p.E718Q	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		16	2159	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		718			Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2152G>C	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.735843	0.89482	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.38077	1.41;1.39;1.16	4.18	4.18	0.49190	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.48259	0.1490	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.43861	-0.9365	9	0.37606	T	0.19	.	15.5191	0.75851	0.0:1.0:0.0:0.0	.	718;718	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	718;718;637;87	ENSP00000349486:E718Q;ENSP00000322938:E718Q;ENSP00000366756:E637Q	ENSP00000322938:E718Q	E	-	1	0	SCRIB	144961736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.401000	0.79962	1.892000	0.54788	0.550000	0.68814	GAG		0.617	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		NM_015356		7	84	0	0	0	0.004482	0	7	84		
KIAA2026	158358	broad.mit.edu	37	9	5969048	5969048	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:5969048C>T	ENST00000399933.3	-	3	1182	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E395K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	395										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)		CCCAGTTTTTCAGCACAGTTA	0.418																																						uc003zjq.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1183-1185)GAA>AAA		hypothetical protein LOC158358							43.0	43.0	43.0					9																	5969048		1841	4084	5925	SO:0001583	missense	158358							g.chr9:5969048C>T	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.1183G>A	9.37:g.5969048C>T	ENSP00000382815:p.Glu395Lys						p.E395K	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	1399	-		Acute lymphoblastic leukemia(23;0.158)	395					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.1183G>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.135220	0.77662	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.90955	-2.76;-2.76;-2.76	6.08	6.08	0.98989	.	0.000000	0.50627	U	0.000118	D	0.94742	0.8303	L	0.61218	1.895	0.54753	D	0.999981	D	0.62365	0.991	D	0.66716	0.946	D	0.94336	0.7566	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	395	Q5HYC2	K2026_HUMAN	K	395;395;328	ENSP00000382815:E395K;ENSP00000370870:E395K;ENSP00000444993:E328K	ENSP00000370870:E395K	E	-	1	0	KIAA2026	5959048	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	7.459000	0.80802	2.894000	0.99253	0.591000	0.81541	GAA		0.418	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2		NM_001017969		5	19	0	0	0	0.000602	0	5	19		
PTPRD	5789	broad.mit.edu	37	9	8484129	8484129	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:8484129C>T	ENST00000381196.4	-	27	3946	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K	PTPRD_ENST00000358503.5_Missense_Mutation_p.E1113K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1135K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E724K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E724K|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000397617.3_Missense_Mutation_p.E714K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1135K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E714K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E721K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E721K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1122K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1135					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTATATTCTCATTTGCAGGT	0.383										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3403-3405)GAG>AAG		protein tyrosine phosphatase, receptor type, D							131.0	126.0	127.0					9																	8484129		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484129C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3403G>A	9.37:g.8484129C>T	ENSP00000370593:p.Glu1135Lys	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.E724K|PTPRD_uc003zkq.2_Missense_Mutation_p.E724K|PTPRD_uc003zkr.2_Missense_Mutation_p.E719K|PTPRD_uc003zks.2_Missense_Mutation_p.E714K|PTPRD_uc003zkl.2_Missense_Mutation_p.E1126K|PTPRD_uc003zkm.2_Missense_Mutation_p.E1122K|PTPRD_uc003zkn.2_Missense_Mutation_p.E724K|PTPRD_uc003zko.2_Missense_Mutation_p.E721K	p.E1135K	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	29	4114	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1135			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3403G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144705	0.37825	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.91	5.91	0.95273	.	0.048429	0.85682	D	0.000000	T	0.38480	0.1042	L	0.40543	1.245	0.58432	D	0.999999	B;B;B;B;B;B;B;B;B	0.30824	0.146;0.033;0.048;0.081;0.002;0.296;0.001;0.0;0.043	B;B;B;B;B;B;B;B;B	0.27887	0.065;0.01;0.014;0.015;0.012;0.069;0.001;0.001;0.084	T	0.13335	-1.0513	9	.	.	.	.	14.1332	0.65268	0.0:0.9277:0.0:0.0722	.	714;719;724;724;721;721;1122;1135;1135	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	1135;1135;1122;1113;724;714;721;721;1135;724;714	ENSP00000370593:E1135K;ENSP00000348812:E1135K;ENSP00000353187:E1122K;ENSP00000351293:E1113K;ENSP00000347373:E724K;ENSP00000380741:E714K;ENSP00000380735:E721K;ENSP00000440515:E721K;ENSP00000438164:E1135K;ENSP00000417093:E724K;ENSP00000380731:E714K	.	E	-	1	0	PTPRD	8474129	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.774000	0.68906	2.802000	0.96397	0.655000	0.94253	GAG		0.383	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				6	102	0	0	0	0.00308	0	6	102		
PTPRD	5789	broad.mit.edu	37	9	8518022	8518022	+	Missense_Mutation	SNP	T	T	C	rs372854730		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:8518022T>C	ENST00000381196.4	-	18	1912	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V	PTPRD_ENST00000358503.5_Missense_Mutation_p.M444V|PTPRD_ENST00000540109.1_Missense_Mutation_p.M457V|PTPRD_ENST00000355233.5_Missense_Mutation_p.M457V|PTPRD_ENST00000486161.1_Missense_Mutation_p.M457V|PTPRD_ENST00000397617.3_Missense_Mutation_p.M447V|PTPRD_ENST00000356435.5_Missense_Mutation_p.M457V|PTPRD_ENST00000397606.3_Missense_Mutation_p.M447V|PTPRD_ENST00000397611.3_Missense_Mutation_p.M454V|PTPRD_ENST00000537002.1_Missense_Mutation_p.M454V|PTPRD_ENST00000360074.4_Missense_Mutation_p.M444V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGGGATCCATTGTATAATAA	0.423										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1369-1371)ATG>GTG		protein tyrosine phosphatase, receptor type, D		T	VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET	0,4406		0,0,2203	312.0	275.0	288.0		1351,1369,1369,1369,1339,1360	5.3	1.0	9		288	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	PTPRD	NM_130393.3,NM_130392.3,NM_130391.3,NM_002839.3,NM_001171025.1,NM_001040712.2	21,21,21,21,21,21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	451/1497,457/1507,457/1506,457/1913,447/1506,454/1503	8518022	1,13005	2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518022T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1369A>G	9.37:g.8518022T>C	ENSP00000370593:p.Met457Val	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.M457V|PTPRD_uc003zkq.2_Missense_Mutation_p.M457V|PTPRD_uc003zkr.2_Missense_Mutation_p.M451V|PTPRD_uc003zks.2_Missense_Mutation_p.M447V|PTPRD_uc003zkl.2_Missense_Mutation_p.M457V|PTPRD_uc003zkm.2_Missense_Mutation_p.M444V|PTPRD_uc003zkn.2_Missense_Mutation_p.M457V|PTPRD_uc003zko.2_Missense_Mutation_p.M454V	p.M457V	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	2080	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	457			Fibronectin type-III 2.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1369A>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	4.145	0.025353	0.08054	0.0	1.16E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.042967	0.85682	D	0.000000	T	0.51873	0.1700	N	0.20766	0.605	0.54753	D	0.999986	B;B;B;B;B;B;B;B;B	0.31790	0.068;0.03;0.03;0.068;0.005;0.055;0.196;0.34;0.233	B;B;B;B;B;B;B;B;B	0.32393	0.145;0.102;0.063;0.145;0.003;0.089;0.044;0.102;0.06	T	0.50171	-0.8859	9	.	.	.	.	15.2636	0.73643	0.0:0.0:0.0:1.0	.	447;451;457;457;454;454;444;457;457	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	457;457;444;444;457;447;454;454;457;457;457;447	ENSP00000370593:M457V;ENSP00000348812:M457V;ENSP00000353187:M444V;ENSP00000351293:M444V;ENSP00000347373:M457V;ENSP00000380741:M447V;ENSP00000380735:M454V;ENSP00000440515:M454V;ENSP00000438164:M457V;ENSP00000417093:M457V;ENSP00000380731:M447V	.	M	-	1	0	PTPRD	8508022	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	7.649000	0.83500	2.010000	0.58986	0.383000	0.25322	ATG		0.423	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				61	125	0	0	0	0.01441	0	61	125		
PSIP1	11168	broad.mit.edu	37	9	15486887	15486887	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:15486887C>T	ENST00000380733.4	-	5	674	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PSIP1_ENST00000380738.4_Missense_Mutation_p.E111K|PSIP1_ENST00000380715.1_Missense_Mutation_p.E111K|PSIP1_ENST00000380716.4_Missense_Mutation_p.E111K|PSIP1_ENST00000397519.2_Missense_Mutation_p.E111K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	111					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TCCTTTTCTTCAACTTCAACA	0.318																																						uc003zlv.3		NaN																	0				breast(1)	1						c.(331-333)GAA>AAA		PC4 and SFRS1 interacting protein 1 isoform 2							146.0	134.0	138.0					9																	15486887		2202	4299	6501	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15486887C>T	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.331G>A	9.37:g.15486887C>T	ENSP00000370109:p.Glu111Lys					PSIP1_uc003zlw.3_Missense_Mutation_p.E111K|PSIP1_uc003zlz.3_Missense_Mutation_p.E111K|PSIP1_uc003zma.3_Missense_Mutation_p.E111K|PSIP1_uc003zly.2_Missense_Mutation_p.E111K	p.E111K	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	5	661	-			111					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.331G>A	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094050	0.76870	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.15	5.15	0.70609	.	0.339024	0.33792	N	0.004545	T	0.65186	0.2667	L	0.54323	1.7	0.38639	D	0.951575	P;D;P	0.53885	0.728;0.963;0.455	B;P;B	0.47402	0.111;0.546;0.076	T	0.63559	-0.6610	10	0.09843	T	0.71	.	16.1331	0.81458	0.0:1.0:0.0:0.0	.	111;111;111	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	K	111	ENSP00000370109:E111K;ENSP00000370114:E111K;ENSP00000370091:E111K;ENSP00000370092:E111K;ENSP00000380653:E111K	ENSP00000370091:E111K	E	-	1	0	PSIP1	15476887	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	4.012000	0.57131	2.552000	0.86080	0.655000	0.94253	GAA		0.318	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		NM_033222		37	59	0	0	0	0.004878	0	37	59		
CCDC171	203238	broad.mit.edu	37	9	15920318	15920318	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:15920318C>G	ENST00000380701.3	+	25	3979	c.3651C>G	c.(3649-3651)atC>atG	p.I1217M	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1217																	GCACTAGAATCATGACATTAG	0.338																																						uc003zmd.2		NaN																	0					0						c.(3649-3651)ATC>ATG		hypothetical protein LOC203238							113.0	98.0	103.0					9																	15920318		2203	4299	6502	SO:0001583	missense	203238							g.chr9:15920318C>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3651C>G	9.37:g.15920318C>G	ENSP00000370077:p.Ile1217Met					C9orf93_uc003zme.2_Missense_Mutation_p.I1132M|C9orf93_uc011lmu.1_Missense_Mutation_p.I1225M	p.I1217M	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	25	3966	+			1217			Potential.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3651C>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898787	0.33535	.	.	ENSG00000164989	ENST00000380701;ENST00000359391	T	0.22945	1.93	5.57	-2.34	0.06704	.	0.069988	0.50627	D	0.000103	T	0.28962	0.0719	N	0.24115	0.695	0.50039	D	0.999849	D;D	0.67145	0.996;0.99	D;P	0.65010	0.931;0.839	T	0.01626	-1.1309	10	0.87932	D	0	-7.8609	11.7128	0.51635	0.0:0.4354:0.0:0.5646	.	1225;1217	B7ZM22;Q6TFL3	.;CI093_HUMAN	M	1217;71	ENSP00000370077:I1217M	ENSP00000352352:I71M	I	+	3	3	C9orf93	15910318	0.156000	0.22821	0.017000	0.16124	0.865000	0.49528	0.026000	0.13599	-0.711000	0.04995	0.557000	0.71058	ATC		0.338	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4		NM_173550		8	49	0	0	0	0.00308	0	8	49		
DENND4C	55667	broad.mit.edu	37	9	19324380	19324380	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:19324380C>T	ENST00000380432.2	+	9	1153	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	DENND4C_ENST00000602925.1_Missense_Mutation_p.R610C|DENND4C_ENST00000434457.2_Missense_Mutation_p.R610C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	374	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						AAGTCGAGATCGTGCCTATGC	0.279																																						uc003znq.2		NaN																	0				ovary(1)|skin(1)	2						c.(1120-1122)CGT>TGT		DENN/MADD domain containing 4C							60.0	69.0	66.0					9																	19324380		2202	4293	6495	SO:0001583	missense	55667					integral to membrane		g.chr9:19324380C>T	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.1120C>T	9.37:g.19324380C>T	ENSP00000369797:p.Arg374Cys					DENND4C_uc011lnc.1_Intron	p.R374C	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			9	1153	+			374			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1120C>T		.	.	.	.	.	.	.	.	.	.	C	25.6	4.655475	0.88056	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.44	4.44	0.53790	dDENN (3);	0.211167	0.50627	D	0.000109	T	0.79246	0.4413	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82464	-0.0444	9	0.87932	D	0	-15.0336	17.5987	0.88020	0.0:1.0:0.0:0.0	.	374	Q5VZ89	DEN4C_HUMAN	C	374	.	ENSP00000369802:R374C	R	+	1	0	DENND4C	19314380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.458000	0.83093	0.591000	0.81541	CGT		0.279	DENND4C-201	KNOWN	basic	protein_coding	protein_coding			NM_017925		29	71	0	0	0	0.009535	0	29	71		
SLC24A2	25769	broad.mit.edu	37	9	19619665	19619665	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:19619665C>T	ENST00000341998.2	-	3	1056	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC24A2_ENST00000286344.3_Missense_Mutation_p.G332E	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	332					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGCAGAGCTTCCACCTCGCTG	0.488																																						uc003zoa.1		NaN																	0				ovary(3)	3						c.(994-996)GGA>GAA		solute carrier family 24							177.0	153.0	161.0					9																	19619665		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19619665C>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.995G>A	9.37:g.19619665C>T	ENSP00000344801:p.Gly332Glu					SLC24A2_uc003zob.1_Missense_Mutation_p.G332E	p.G332E	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	3	1057	-			332			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.995G>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241544	0.95272	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.74947	-0.89;-0.89	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	M	0.76574	2.34	0.80722	D	1	D;D	0.67145	0.98;0.996	P;P	0.61201	0.872;0.885	D	0.84454	0.0590	9	.	.	.	.	19.6614	0.95875	0.0:1.0:0.0:0.0	.	332;332	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	E	332	ENSP00000344801:G332E;ENSP00000286344:G332E	.	G	-	2	0	SLC24A2	19609665	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.565000	0.82337	2.740000	0.93945	0.650000	0.86243	GGA		0.488	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2		NM_020344		8	103	0	0	0	0.00308	0	8	103		
SHB	6461	broad.mit.edu	37	9	37948664	37948664	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:37948664C>T	ENST00000377707.3	-	5	1879	c.1314G>A	c.(1312-1314)caG>caA	p.Q438Q	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	438	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCTTGCTGGTCTGGCTGTTCC	0.647																																						uc004aax.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1312-1314)CAG>CAA		Src homology 2 domain containing adaptor protein							66.0	77.0	73.0					9																	37948664		2173	4277	6450	SO:0001819	synonymous_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37948664C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1314G>A	9.37:g.37948664C>T							p.Q438Q	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	5	1882	-		all_epithelial(88;0.122)	438			SH2.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Silent	SNP	ENST00000377707.3	37	c.1314G>A	CCDS43806.1																																																																																				0.647	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1				7	68	0	0	0	0.001984	0	7	68		
HNRNPK	3190	broad.mit.edu	37	9	86586835	86586835	+	Silent	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:86586835C>A	ENST00000376264.2	-	11	1173	c.915G>T	c.(913-915)cgG>cgT	p.R305R	HNRNPK_ENST00000360384.5_Silent_p.R305R|HNRNPK_ENST00000376281.4_Silent_p.R305R|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Silent_p.R305R|HNRNPK_ENST00000376263.3_Silent_p.R305R|MIR7-1_ENST00000384871.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	305	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GAGGAAGATTCCGAGCTCTGC	0.517																																						uc004ang.3		NaN																	0				skin(1)	1						c.(913-915)CGG>CGT		heterogeneous nuclear ribonucleoprotein K							41.0	52.0	48.0					9																	86586835		2201	4298	6499	SO:0001819	synonymous_variant	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86586835C>A		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.915G>T	9.37:g.86586835C>A						HNRNPK_uc011lsw.1_Silent_p.R65R|HNRNPK_uc004and.3_Silent_p.R65R|HNRNPK_uc004ank.3_Silent_p.R305R|HNRNPK_uc004anf.3_Silent_p.R305R|HNRNPK_uc004anh.3_Silent_p.R281R|HNRNPK_uc011lsx.1_Silent_p.R281R|HNRNPK_uc004ani.3_Silent_p.R305R|HNRNPK_uc004anj.3_Silent_p.R305R|HNRNPK_uc004ann.3_Silent_p.R281R|HNRNPK_uc004anl.3_Silent_p.R305R|HNRNPK_uc004anm.3_Silent_p.R305R|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	p.R305R	NM_031262	NP_112552	P61978	HNRPK_HUMAN			11	1139	-			305			5 X 4 AA repeats of G-X-G-G.|2 X 6 AA approximate repeats.|2 X 22 AA approximate repeats.|Interaction with ZIK1 (By similarity).		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Silent	SNP	ENST00000376264.2	37	c.915G>T	CCDS6667.1																																																																																				0.517	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2				13	100	1	0	3.27435e-08	0.00245	3.43486e-08	13	100		
HNRNPK	3190	broad.mit.edu	37	9	86586966	86586966	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:86586966C>G	ENST00000376264.2	-	11	1042	c.784G>C	c.(784-786)Gac>Cac	p.D262H	HNRNPK_ENST00000360384.5_Missense_Mutation_p.D262H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.D262H|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.D262H|HNRNPK_ENST00000376263.3_Missense_Mutation_p.D262H|MIR7-1_ENST00000384871.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	262	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Necessary for interaction with DDX1.|RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGCATTCTGTCAAAACCACCT	0.532																																						uc004ang.3		NaN																	0				skin(1)	1						c.(784-786)GAC>CAC		heterogeneous nuclear ribonucleoprotein K							54.0	58.0	56.0					9																	86586966		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86586966C>G		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.784G>C	9.37:g.86586966C>G	ENSP00000365440:p.Asp262His					HNRNPK_uc011lsw.1_Missense_Mutation_p.D22H|HNRNPK_uc004and.3_Missense_Mutation_p.D22H|HNRNPK_uc004ank.3_Missense_Mutation_p.D262H|HNRNPK_uc004anf.3_Missense_Mutation_p.D262H|HNRNPK_uc004anh.3_Missense_Mutation_p.D238H|HNRNPK_uc011lsx.1_Missense_Mutation_p.D238H|HNRNPK_uc004ani.3_Missense_Mutation_p.D262H|HNRNPK_uc004anj.3_Missense_Mutation_p.D262H|HNRNPK_uc004ann.3_Missense_Mutation_p.D238H|HNRNPK_uc004anl.3_Missense_Mutation_p.D262H|HNRNPK_uc004anm.3_Missense_Mutation_p.D262H|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	p.D262H	NM_031262	NP_112552	P61978	HNRPK_HUMAN			11	1008	-			262			5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|Necessary for interaction with DDX1.|Interaction with ZIK1 (By similarity).		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.784G>C	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775040	0.90108	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.49139	0.8;0.79;0.8;0.79;0.79	5.31	5.31	0.75309	.	0.048971	0.85682	D	0.000000	T	0.66703	0.2816	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.995;0.995;0.997;0.997;0.992;0.998;0.997;0.982	T	0.65080	-0.6255	10	0.44086	T	0.13	-4.1178	17.5267	0.87802	0.0:1.0:0.0:0.0	.	238;227;262;257;262;238;262;262	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	H	262;262;262;262;262;227;262;257;238;193	ENSP00000365458:D262H;ENSP00000365440:D262H;ENSP00000365439:D262H;ENSP00000317788:D262H;ENSP00000353552:D262H	ENSP00000317788:D262H	D	-	1	0	HNRNPK	85776786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.636000	0.89361	0.655000	0.94253	GAC		0.532	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2				14	68	0	0	0	0.003163	0	14	68		
PTCH1	5727	broad.mit.edu	37	9	98209579	98209579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:98209579C>T	ENST00000331920.6	-	23	4258	c.3959G>A	c.(3958-3960)aGa>aAa	p.R1320K	PTCH1_ENST00000429896.2_Missense_Mutation_p.R1169K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R1169K|PTCH1_ENST00000437951.1_Missense_Mutation_p.R1254K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R1169K|PTCH1_ENST00000375274.2_Missense_Mutation_p.R1319K|PTCH1_ENST00000430669.2_Missense_Mutation_p.R1254K	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1320					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAAAGCGTCTCTGCGCGGTCT	0.667																																						uc004avk.3		NaN																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(3958-3960)AGA>AAA		patched isoform L							37.0	46.0	43.0					9																	98209579		2084	4108	6192	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98209579C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3959G>A	9.37:g.98209579C>T	ENSP00000332353:p.Arg1320Lys					PTCH1_uc010mrn.2_Missense_Mutation_p.R112K|PTCH1_uc010mro.2_Missense_Mutation_p.R1169K|PTCH1_uc010mrp.2_Missense_Mutation_p.R1169K|PTCH1_uc010mrq.2_Missense_Mutation_p.R1169K|PTCH1_uc004avl.3_Missense_Mutation_p.R1169K|PTCH1_uc010mrr.2_Missense_Mutation_p.R1254K|PTCH1_uc004avm.3_Missense_Mutation_p.R1319K	p.R1320K	NM_000264	NP_000255	Q13635	PTC1_HUMAN			23	4147	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1320			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3959G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075029	0.55646	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.89746	-2.56;-2.55;-2.53;-2.53;-2.55;-2.53;-2.56	5.12	5.12	0.69794	.	0.166701	0.56097	D	0.000040	D	0.87430	0.6175	L	0.57536	1.79	0.43503	D	0.995758	B;B;B	0.32467	0.187;0.372;0.255	B;B;B	0.30316	0.08;0.114;0.053	D	0.86411	0.1748	10	0.46703	T	0.11	-17.2082	18.7592	0.91843	0.0:1.0:0.0:0.0	.	1254;1319;1320	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	K	1320;1254;1169;1169;1254;112;1169;1319	ENSP00000332353:R1320K;ENSP00000389744:R1254K;ENSP00000399981:R1169K;ENSP00000396135:R1169K;ENSP00000410287:R1254K;ENSP00000414823:R1169K;ENSP00000364423:R1319K	ENSP00000332353:R1320K	R	-	2	0	PTCH1	97249400	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.682000	0.46934	2.659000	0.90383	0.655000	0.94253	AGA		0.667	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264		17	77	0	0	0	0.006122	0	17	77		
PTCH1	5727	broad.mit.edu	37	9	98241349	98241349	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:98241349G>A	ENST00000331920.6	-	8	1447	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000429896.2_Missense_Mutation_p.S232L|PTCH1_ENST00000418258.1_Missense_Mutation_p.S232L|PTCH1_ENST00000437951.1_Missense_Mutation_p.S317L|PTCH1_ENST00000421141.1_Missense_Mutation_p.S232L|PTCH1_ENST00000375274.2_Missense_Mutation_p.S382L|PTCH1_ENST00000430669.2_Missense_Mutation_p.S317L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	383					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTTGATGTGTGAGACATACTC	0.552																																						uc004avk.3		NaN																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379	GRCh37	CM070247	PTCH1	M		c.(1147-1149)TCA>TTA		patched isoform L							196.0	143.0	161.0					9																	98241349		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98241349G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1148C>T	9.37:g.98241349G>A	ENSP00000332353:p.Ser383Leu					PTCH1_uc010mro.2_Missense_Mutation_p.S232L|PTCH1_uc010mrp.2_Missense_Mutation_p.S232L|PTCH1_uc010mrq.2_Missense_Mutation_p.S232L|PTCH1_uc004avl.3_Missense_Mutation_p.S232L|PTCH1_uc010mrr.2_Missense_Mutation_p.S317L|PTCH1_uc004avm.3_Missense_Mutation_p.S382L|PTCH1_uc010mrs.1_Missense_Mutation_p.S103L	p.S383L	NM_000264	NP_000255	Q13635	PTC1_HUMAN			8	1336	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	383			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1148C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152447	0.78001	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.90620	-2.65;-2.64;-2.63;-2.63;-2.64;-2.63;-2.65;-2.7	6.17	6.17	0.99709	.	0.055834	0.85682	D	0.000000	D	0.87257	0.6132	N	0.22421	0.69	0.58432	D	0.999999	B;B;B;B	0.28584	0.216;0.113;0.216;0.137	B;B;B;B	0.34824	0.19;0.113;0.171;0.18	T	0.81992	-0.0678	10	0.29301	T	0.29	-17.6509	20.8794	0.99867	0.0:0.0:1.0:0.0	.	232;317;382;383	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	L	383;317;232;232;317;232;382;100	ENSP00000332353:S383L;ENSP00000389744:S317L;ENSP00000399981:S232L;ENSP00000396135:S232L;ENSP00000410287:S317L;ENSP00000414823:S232L;ENSP00000364423:S382L;ENSP00000364420:S100L	ENSP00000332353:S383L	S	-	2	0	PTCH1	97281170	1.000000	0.71417	0.966000	0.40874	0.869000	0.49853	5.356000	0.66052	2.941000	0.99782	0.655000	0.94253	TCA		0.552	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264		26	34	0	0	0	0.003954	0	26	34		
STX17	55014	broad.mit.edu	37	9	102729973	102729973	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:102729973C>T	ENST00000259400.6	+	7	757	c.621C>T	c.(619-621)gtC>gtT	p.V207V	STX17_ENST00000534052.1_Silent_p.V207V|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Silent_p.V207V	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	207	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAGACCATGTCAACAGTGCTG	0.493																																						uc004bal.3		NaN																	0				large_intestine(1)	1						c.(619-621)GTC>GTT		syntaxin 17							153.0	131.0	138.0					9																	102729973		2203	4300	6503	SO:0001819	synonymous_variant	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102729973C>T	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.621C>T	9.37:g.102729973C>T						STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA	p.V207V	NM_017919	NP_060389	P56962	STX17_HUMAN			7	757	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	207			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		Q4VXC2	Silent	SNP	ENST00000259400.6	37	c.621C>T	CCDS6745.1																																																																																				0.493	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3		NM_017919		35	46	0	0	0	0.006999	0	35	46		
OR13F1	138805	broad.mit.edu	37	9	107266864	107266864	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:107266864G>A	ENST00000334726.2	+	1	410	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCCTTGCCATGGGCTCCACTG	0.522																																						uc011lvm.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(319-321)ATG>ATA		olfactory receptor, family 13, subfamily F,							93.0	81.0	85.0					9																	107266864		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266864G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.321G>A	9.37:g.107266864G>A	ENSP00000334452:p.Met107Ile						p.M107I	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	321	+			107			Helical; Name=3; (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.321G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388211	0.42308	.	.	ENSG00000186881	ENST00000334726	T	0.01304	5.03	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.325926	0.26400	N	0.024581	T	0.02047	0.0064	L	0.46819	1.47	0.31680	N	0.643211	B	0.32731	0.382	B	0.28553	0.091	T	0.12142	-1.0559	10	0.66056	D	0.02	.	15.061	0.71955	0.0:0.0:1.0:0.0	.	107	Q8NGS4	O13F1_HUMAN	I	107	ENSP00000334452:M107I	ENSP00000334452:M107I	M	+	3	0	OR13F1	106306685	0.266000	0.24112	1.000000	0.80357	0.977000	0.68977	0.495000	0.22483	2.677000	0.91161	0.650000	0.86243	ATG		0.522	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1				25	41	0	0	0	0.00333	0	25	41		
CTNNAL1	8727	broad.mit.edu	37	9	111746665	111746665	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:111746665G>A	ENST00000325551.4	-	5	777	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.L231F|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.L231F	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	231					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CACTTTTCAAGAACTGCCCTA	0.348																																						uc004bdo.1		NaN																	0				ovary(1)	1						c.(691-693)CTT>TTT		catenin, alpha-like 1							155.0	149.0	151.0					9																	111746665		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111746665G>A	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.691C>T	9.37:g.111746665G>A	ENSP00000320434:p.Leu231Phe					CTNNAL1_uc010mts.1_5'Flank|CTNNAL1_uc010mtt.1_Missense_Mutation_p.L231F|CTNNAL1_uc004bdp.1_Missense_Mutation_p.L231F	p.L231F	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	5	733	-			231					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.691C>T	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191730	0.78902	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.67865	-0.29;-0.29;-0.29	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.86555	0.1837	10	0.87932	D	0	-10.7152	17.7218	0.88353	0.0:0.0:1.0:0.0	.	231;231;231	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	F	231	ENSP00000363723:L231F;ENSP00000320434:L231F;ENSP00000323351:L231F	ENSP00000320434:L231F	L	-	1	0	CTNNAL1	110786486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.784000	0.99039	2.778000	0.95560	0.655000	0.94253	CTT		0.348	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1		NM_003798		32	106	0	0	0	0.003755	0	32	106		
EPB41L4B	54566	broad.mit.edu	37	9	112042115	112042115	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:112042115G>A	ENST00000374566.3	-	2	910	c.393C>T	c.(391-393)ctC>ctT	p.L131L	EPB41L4B_ENST00000374557.4_Silent_p.L131L	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	131	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCAGAGTCGAGGAACTGGA	0.443																																						uc004bdz.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(391-393)CTC>CTT		erythrocyte membrane protein band 4.1 like 4B							108.0	105.0	106.0					9																	112042115		1951	4152	6103	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112042115G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.393C>T	9.37:g.112042115G>A						EPB41L4B_uc004bea.2_Silent_p.L131L	p.L131L	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			2	688	-			131			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.393C>T	CCDS43859.1																																																																																				0.443	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1		NM_018424		8	43	0	0	0	0.010729	0	8	43		
CNTRL	11064	broad.mit.edu	37	9	123900853	123900853	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:123900853G>C	ENST00000373855.1	+	16	2493	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	CNTRL_ENST00000373847.1_Missense_Mutation_p.E193Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E193Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E745Q			Q7Z7A1	CNTRL_HUMAN	centriolin	745					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGCAGAACTTGAGAAGGAAAG	0.398																																						uc004bkx.1		NaN																	0					0						c.(2233-2235)GAG>CAG		centrosomal protein 110kDa							91.0	90.0	90.0					9																	123900853		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123900853G>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2233G>C	9.37:g.123900853G>C	ENSP00000362962:p.Glu745Gln					CEP110_uc004bky.1_Missense_Mutation_p.E349Q|CEP110_uc004bkz.1_Missense_Mutation_p.E193Q|CEP110_uc004bla.1_Missense_Mutation_p.E193Q	p.E745Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			14	2264	+			745			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.2233G>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445275	0.83993	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.76	5.76	0.90799	.	.	.	.	.	T	0.64886	0.2639	L	0.34521	1.04	0.34905	D	0.746903	D;P;D	0.89917	1.0;0.688;0.999	D;B;D	0.83275	0.996;0.32;0.994	T	0.68372	-0.5426	9	0.44086	T	0.13	.	19.3119	0.94192	0.0:0.0:1.0:0.0	.	745;745;745	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	Q	745;745;745;227;193;193	ENSP00000362962:E745Q;ENSP00000238341:E745Q;ENSP00000362956:E193Q;ENSP00000362953:E193Q	ENSP00000238341:E745Q	E	+	1	0	CNTRL	122940674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.253000	0.58791	2.882000	0.98803	0.655000	0.94253	GAG		0.398	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1		NM_007018		13	51	0	0	0	0.00245	0	13	51		
DENND1A	57706	broad.mit.edu	37	9	126143804	126143804	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:126143804C>T	ENST00000373624.2	-	22	3138	c.2937G>A	c.(2935-2937)caG>caA	p.Q979Q	DENND1A_ENST00000542603.1_Silent_p.Q764Q|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.Q990Q	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	979	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCTTGGTTTTCTGTAACAAAT	0.647																																						uc004bnz.1		NaN																	0				ovary(2)	2						c.(2935-2937)CAG>CAA		DENN/MADD domain containing 1A isoform 1							43.0	53.0	50.0					9																	126143804		2203	4300	6503	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126143804C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2937G>A	9.37:g.126143804C>T						DENND1A_uc011lzl.1_Silent_p.Q797Q|DENND1A_uc004bny.1_Silent_p.Q761Q|DENND1A_uc011lzm.1_Silent_p.Q990Q|DENND1A_uc010mwh.1_Silent_p.Q400Q	p.Q979Q	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			22	3170	-			979			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.2937G>A	CCDS35133.1																																																																																				0.647	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1		NM_024820		9	39	0	0	0	0.004482	0	9	39		
CRAT	1384	broad.mit.edu	37	9	131860309	131860309	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:131860309C>T	ENST00000318080.2	-	11	1741	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	483					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CTGGAGTCATCCATGGCCTTG	0.597																																						uc004bxh.2		NaN																	0				central_nervous_system(1)	1						c.(1447-1449)GAT>AAT		carnitine acetyltransferase precursor	L-Carnitine(DB00583)						132.0	120.0	124.0					9																	131860309		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131860309C>T	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1447G>A	9.37:g.131860309C>T	ENSP00000315013:p.Asp483Asn					CRAT_uc004bxg.2_Missense_Mutation_p.D462N|CRAT_uc004bxk.3_Missense_Mutation_p.D462N	p.D483N	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	11	1729	-			483					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.1447G>A	CCDS6919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.150136|3.150136	0.57151|0.57151	.|.	.|.	ENSG00000095321|ENSG00000095321	ENST00000351352;ENST00000318080|ENST00000455396	D|.	0.88896|.	-2.44|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.337943|.	0.33309|.	N|.	0.005043|.	T|T	0.71264|0.71264	0.3319|0.3319	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B|.	0.15141|.	0.012|.	B|.	0.21151|.	0.033|.	T|T	0.67825|0.67825	-0.5570|-0.5570	10|5	0.14252|.	T|.	0.57|.	-2.8621|-2.8621	18.3756|18.3756	0.90435|0.90435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	483|.	P43155|.	CACP_HUMAN|.	N|E	402;483|81	ENSP00000315013:D483N|.	ENSP00000315013:D483N|.	D|G	-|-	1|2	0|0	CRAT|CRAT	130900130|130900130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	6.018000|6.018000	0.70811|0.70811	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.597	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1				9	129	0	0	0	0.006214	0	9	129		
PTGDS	5730	broad.mit.edu	37	9	139873474	139873474	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:139873474C>T	ENST00000371625.3	+	2	218	c.144C>T	c.(142-144)ctC>ctT	p.L48L	PTGDS_ENST00000224167.2_Silent_p.L48L|PTGDS_ENST00000460340.1_3'UTR|RP11-229P13.19_ENST00000413913.2_RNA	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	48					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGCGGGCCTCGCCTCCAACT	0.711																																						uc004cke.2		NaN																	0				ovary(1)	1						c.(142-144)CTC>CTT		prostaglandin D2 synthase, brain							38.0	38.0	38.0					9																	139873474		2203	4299	6502	SO:0001819	synonymous_variant	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139873474C>T	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.144C>T	9.37:g.139873474C>T						PTGDS_uc004ckd.2_RNA|PTGDS_uc004ckf.2_RNA	p.L48L	NM_000954	NP_000945	P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	2	219	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	48					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Silent	SNP	ENST00000371625.3	37	c.144C>T	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	13.04	2.118792	0.37436	.	.	ENSG00000107317	ENST00000446677	.	.	.	4.38	-0.117	0.13551	.	.	.	.	.	T	0.52191	0.1719	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40720	-0.9548	4	.	.	.	-12.5819	6.8609	0.24066	0.0:0.4273:0.3707:0.2021	.	.	.	.	C	71	.	.	R	+	1	0	PTGDS	138993295	0.084000	0.21492	0.997000	0.53966	0.989000	0.77384	-1.239000	0.02916	-0.008000	0.14320	0.436000	0.28706	CGC		0.711	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1		NM_000954		4	31	0	0	0	0.009096	0	4	31		
ABCA2	20	broad.mit.edu	37	9	139908491	139908491	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:139908491C>T	ENST00000371605.3	-	27	4385		c.e27-1		ABCA2_ENST00000341511.6_Splice_Site|ABCA2_ENST00000265662.5_Splice_Site			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2						ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCTCCACCTCTGTGCAGAGA	0.682																																						uc011mem.1		NaN																	0					0						c.e27-1		ATP-binding cassette, sub-family A, member 2							19.0	24.0	22.0					9																	139908491		2066	4188	6254	SO:0001630	splice_region_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139908491C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4238-1G>A	9.37:g.139908491C>T						ABCA2_uc011mel.1_Splice_Site_p.E1414_splice|ABCA2_uc004ckl.1_Splice_Site_p.E1344_splice|ABCA2_uc004ckm.1_Splice_Site_p.E1444_splice|ABCA2_uc004ckn.1_Splice_Site	p.E1413_splice	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	27	4386	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)						A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Splice_Site	SNP	ENST00000371605.3	37	c.4238_splice		.	.	.	.	.	.	.	.	.	.	C	11.55	1.672115	0.29693	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.602	0.88028	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA2	139028312	1.000000	0.71417	0.994000	0.49952	0.205000	0.24178	4.510000	0.60455	2.136000	0.66102	0.491000	0.48974	.		0.682	ABCA2-202	KNOWN	basic	protein_coding	protein_coding			NM_001606	Intron	7	17	0	0	0	0.00308	0	7	17		
BMX	660	broad.mit.edu	37	X	15540529	15540529	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:15540529C>T	ENST00000357607.2	+	7	759	c.571C>T	c.(571-573)Cta>Tta	p.L191L	BMX_ENST00000348343.6_Silent_p.L191L|BMX_ENST00000342014.6_Silent_p.L191L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	191					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AAGTACCACTCTAGCCCAATA	0.428																																						uc004cww.2		NaN																	0				lung(3)|ovary(2)	5						c.(571-573)CTA>TTA		BMX non-receptor tyrosine kinase							165.0	149.0	155.0					X																	15540529		2203	4300	6503	SO:0001819	synonymous_variant	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15540529C>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.571C>T	X.37:g.15540529C>T						BMX_uc004cwx.3_Silent_p.L191L|BMX_uc004cwy.3_Silent_p.L191L	p.L191L	NM_203281	NP_975010	P51813	BMX_HUMAN			7	759	+	Hepatocellular(33;0.183)		191					A6NIH9|O60564|Q12871	Silent	SNP	ENST00000357607.2	37	c.571C>T	CCDS14168.1																																																																																				0.428	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1		NM_001721		82	24	0	0	0	0.01441	0	82	24		
PORCN	64840	broad.mit.edu	37	X	48372644	48372644	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:48372644G>A	ENST00000326194.6	+	8	779	c.736G>A	c.(736-738)Gag>Aag	p.E246K	PORCN_ENST00000367574.4_Missense_Mutation_p.E164K|PORCN_ENST00000359882.4_Missense_Mutation_p.E240K|PORCN_ENST00000355961.4_Missense_Mutation_p.E241K|PORCN_ENST00000361988.3_Missense_Mutation_p.E235K|PORCN_ENST00000355092.3_Missense_Mutation_p.E240K|PORCN_ENST00000537758.1_Missense_Mutation_p.E246K	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	246					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGAGCCTACGAGAGTGCTGT	0.597																																						uc010nie.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(736-738)GAG>AAG		porcupine isoform D							112.0	90.0	98.0					X																	48372644		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48372644G>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.736G>A	X.37:g.48372644G>A	ENSP00000322304:p.Glu246Lys					PORCN_uc004djr.1_Missense_Mutation_p.E241K|PORCN_uc004djs.1_Missense_Mutation_p.E235K|PORCN_uc004djt.1_Missense_Mutation_p.E164K|PORCN_uc011mlx.1_Missense_Mutation_p.E164K|PORCN_uc004dju.1_Missense_Mutation_p.E104K|PORCN_uc004djv.1_Missense_Mutation_p.E246K|PORCN_uc004djw.1_Missense_Mutation_p.E240K	p.E246K	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			9	894	+			246			Extracellular (Potential).		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.736G>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156174	0.94686	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	M	0.61703	1.905	0.80722	D	1	D;B;B;D;D	0.71674	0.998;0.449;0.323;0.998;0.998	P;B;B;P;P	0.59643	0.861;0.19;0.19;0.861;0.861	T	0.73062	-0.4101	10	0.02654	T	1	-13.701	15.7071	0.77592	0.0:0.0:1.0:0.0	.	240;246;164;235;241	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	K	240;246;164;241;235;246;240	ENSP00000352946:E240K;ENSP00000446401:E246K;ENSP00000356546:E164K;ENSP00000348233:E241K;ENSP00000354978:E235K;ENSP00000322304:E246K;ENSP00000347207:E240K	ENSP00000322304:E246K	E	+	1	0	PORCN	48257588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.440000	0.80464	2.306000	0.77630	0.464000	0.42555	GAG		0.597	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1		NM_022825		19	44	0	0	0	0.012319	0	19	44		
GPR173	54328	broad.mit.edu	37	X	53106308	53106308	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:53106308C>T	ENST00000332582.4	+	2	996	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	169					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CAAGTTTATTCGGGAGGAGGA	0.562																																						uc004dru.2		NaN																	0				skin(1)	1						c.(505-507)CGG>TGG		G protein-coupled receptor 173							56.0	49.0	52.0					X																	53106308		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106308C>T	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.505C>T	X.37:g.53106308C>T	ENSP00000331600:p.Arg169Trp						p.R169W	NM_018969	NP_061842	Q9NS66	GP173_HUMAN			2	763	+			169			Extracellular (Potential).		B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.505C>T	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597963	0.66332	.	.	ENSG00000184194	ENST00000332582	T	0.72835	-0.69	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.84727	0.0743	10	0.72032	D	0.01	-5.6861	13.3575	0.60635	0.0:1.0:0.0:0.0	.	169	Q9NS66	GP173_HUMAN	W	169	ENSP00000331600:R169W	ENSP00000331600:R169W	R	+	1	2	GPR173	53123033	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.864000	0.56024	2.010000	0.58986	0.529000	0.55759	CGG		0.562	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2		NM_018969		6	12	0	0	0	0.001984	0	6	12		
MAGEH1	28986	broad.mit.edu	37	X	55479335	55479335	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:55479335C>T	ENST00000342972.1	+	1	798	c.528C>T	c.(526-528)gtC>gtT	p.V176V	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	176	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AACTGAAAGTCATGCATTTTG	0.512																																						uc004dum.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(526-528)GTC>GTT		melanoma antigen, family H, 1 protein							108.0	101.0	103.0					X																	55479335		2203	4300	6503	SO:0001819	synonymous_variant	28986				apoptosis			g.chrX:55479335C>T	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.528C>T	X.37:g.55479335C>T							p.V176V	NM_014061	NP_054780	Q9H213	MAGH1_HUMAN			1	798	+			176			MAGE.		B2R8V9|Q5JRJ3|Q9Y5M2	Silent	SNP	ENST00000342972.1	37	c.528C>T	CCDS14369.1																																																																																				0.512	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1		NM_014061		43	15	0	0	0	0.009718	0	43	15		
SPIN2A	54466	broad.mit.edu	37	X	57162619	57162619	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:57162619C>G	ENST00000374908.1	-	1	811	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	SPIN2A_ENST00000374906.3_Missense_Mutation_p.E138Q			Q99865	SPI2A_HUMAN	spindlin family, member 2A	138					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						TGCTCTCCCTCAAACATGTGT	0.418																																						uc004dvb.2		NaN																	0					0						c.(412-414)GAG>CAG		spindlin family, member 2							180.0	154.0	163.0					X																	57162619		2201	4296	6497	SO:0001583	missense	54466				cell cycle|gamete generation			g.chrX:57162619C>G	Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"""spindlin family, member 2"""	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.412G>C	X.37:g.57162619C>G	ENSP00000364043:p.Glu138Gln						p.E138Q	NM_019003	NP_061876	Q99865	SPI2A_HUMAN			2	783	-			138					O75650|Q6IPW2|Q9UJJ0	Missense_Mutation	SNP	ENST00000374908.1	37	c.412G>C	CCDS35312.1	.	.	.	.	.	.	.	.	.	.	.	16.37	3.103761	0.56291	.	.	ENSG00000147059	ENST00000374908;ENST00000374906	T;T	0.52754	0.65;0.65	2.5	2.5	0.30297	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.67397	2.05	0.42271	D	0.992054	P	0.46912	0.886	P	0.49192	0.602	T	0.59721	-0.7401	10	0.87932	D	0	-37.4973	10.2588	0.43414	0.0:1.0:0.0:0.0	.	138	Q99865	SPI2A_HUMAN	Q	138	ENSP00000364043:E138Q;ENSP00000364041:E138Q	ENSP00000364041:E138Q	E	-	1	0	SPIN2A	57179344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.200000	0.72118	1.524000	0.49035	0.422000	0.28245	GAG		0.418	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058915.1		NM_019003		38	103	0	0	0	0.00623	0	38	103		
MTMR8	55613	broad.mit.edu	37	X	63488550	63488550	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:63488550G>A	ENST00000374852.3	-	14	2049	c.1982C>T	c.(1981-1983)tCt>tTt	p.S661F	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	661						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGTGGCCTCAGAGATGTCCAT	0.567																																						uc004dvs.2		NaN																	2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1981-1983)TCT>TTT		myotubularin related protein 8							77.0	70.0	72.0					X																	63488550		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488550G>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1982C>T	X.37:g.63488550G>A	ENSP00000363985:p.Ser661Phe					MTMR8_uc011mou.1_Intron	p.S661F	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			14	2050	-			661					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1982C>T	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564440	0.27915	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.95001	-3.58	2.72	1.67	0.24075	.	.	.	.	.	D	0.86527	0.5954	N	0.08118	0	0.34118	D	0.66378	D	0.59357	0.985	B	0.43809	0.432	D	0.87964	0.2732	9	0.87932	D	0	.	8.28	0.31896	0.0:0.2442:0.7557:0.0	.	661	Q96EF0	MTMR8_HUMAN	F	661;547	ENSP00000363985:S661F	ENSP00000247400:S547F	S	-	2	0	MTMR8	63405275	0.812000	0.29077	0.029000	0.17559	0.035000	0.12851	0.066000	0.14489	1.331000	0.45412	0.513000	0.50165	TCT		0.567	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2		NM_017677		4	32	0	0	0	0.009096	0	4	32		
TAF7L	54457	broad.mit.edu	37	X	100542501	100542501	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:100542501C>T	ENST00000372907.3	-	2	300	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	TAF7L_ENST00000372905.2_Missense_Mutation_p.E11K|TAF7L_ENST00000324762.6_Missense_Mutation_p.E11K|Y_RNA_ENST00000410271.1_RNA|TAF7L_ENST00000356784.1_Missense_Mutation_p.E11K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	97					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTCTCAACTTCATCAGGAACT	0.348																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2		NaN																	0				breast(1)	1						c.(289-291)GAA>AAA		TATA box binding protein-associated factor, RNA							85.0	72.0	76.0					X																	100542501		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100542501C>T	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.289G>A	X.37:g.100542501C>T	ENSP00000361998:p.Glu97Lys					TAF7L_uc004eha.2_Missense_Mutation_p.E11K|TAF7L_uc004ehc.1_Missense_Mutation_p.E11K	p.E97K	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			2	301	-			97					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.289G>A	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521674	0.85600	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.25912	2.29;1.81;1.81;1.77	5.06	5.06	0.68205	.	0.154508	0.30464	N	0.009575	T	0.38268	0.1034	L	0.27053	0.805	0.50467	D	0.999874	D;D	0.76494	0.999;0.997	D;D	0.69654	0.965;0.935	T	0.32455	-0.9906	10	0.87932	D	0	-8.2217	16.3197	0.82945	0.0:1.0:0.0:0.0	.	97;11	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	K	97;11;11;11	ENSP00000361998:E97K;ENSP00000361996:E11K;ENSP00000320283:E11K;ENSP00000349235:E11K	ENSP00000320283:E11K	E	-	1	0	TAF7L	100429157	1.000000	0.71417	0.284000	0.24805	0.846000	0.48090	6.339000	0.72969	2.108000	0.64289	0.468000	0.43344	GAA		0.348	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2				4	31	0	0	0	0.009096	0	4	31		
BHLHB9	80823	broad.mit.edu	37	X	102004757	102004757	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:102004757C>T	ENST00000372735.1	+	4	1419	c.834C>T	c.(832-834)atC>atT	p.I278I	BHLHB9_ENST00000457056.1_Silent_p.I278I|BHLHB9_ENST00000447531.1_Silent_p.I278I|BHLHB9_ENST00000361229.4_Silent_p.I278I|BHLHB9_ENST00000448867.1_Silent_p.I278I			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	278					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACAGCCTATCCCTGAGTGTC	0.483																																						uc010nog.2		NaN																	0				ovary(2)	2						c.(832-834)ATC>ATT		basic helix-loop-helix domain containing, class							75.0	67.0	70.0					X																	102004757		2203	4300	6503	SO:0001819	synonymous_variant	80823					cytoplasm|nucleus	binding	g.chrX:102004757C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.834C>T	X.37:g.102004757C>T						BHLHB9_uc011mrq.1_Silent_p.I278I|BHLHB9_uc011mrr.1_Silent_p.I278I|BHLHB9_uc011mrs.1_Silent_p.I278I|BHLHB9_uc011mrt.1_Silent_p.I278I|BHLHB9_uc004ejo.2_Silent_p.I278I|BHLHB9_uc011mru.1_Silent_p.I278I|BHLHB9_uc011mrv.1_Silent_p.I278I	p.I278I	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1405	+			278					Q9C0G2	Silent	SNP	ENST00000372735.1	37	c.834C>T	CCDS14502.1																																																																																				0.483	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1		NM_030639		20	53	0	0	0	0.014323	0	20	53		
SERPINA7	6906	broad.mit.edu	37	X	105281031	105281031	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:105281031G>A	ENST00000327674.4	-	1	354	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.L7L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	7					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AAGAGAACCAGATACAGGAAT	0.458																																						uc004eme.1		NaN																	0					0						c.(19-21)CTG>TTG		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						84.0	74.0	77.0					X																	105281031		2203	4299	6502	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105281031G>A	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.19C>T	X.37:g.105281031G>A						SERPINA7_uc010npd.2_Silent_p.L7L|SERPINA7_uc010npe.1_Silent_p.L7L	p.L7L	NM_000354	NP_000345	P05543	THBG_HUMAN			1	35	-			7					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.19C>T	CCDS14518.1																																																																																				0.458	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1		NM_000354		7	59	0	0	0	0.00308	0	7	59		
TBC1D8B	54885	broad.mit.edu	37	X	106066677	106066677	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:106066677C>G	ENST00000357242.5	+	5	982	c.808C>G	c.(808-810)Cct>Gct	p.P270A	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P270A|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P270A|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P270A	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	270							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTTTATAATCCTCTACAGAT	0.313																																						uc004emo.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(808-810)CCT>GCT		TBC1 domain family, member 8B (with GRAM domain)							85.0	89.0	88.0					X																	106066677		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106066677C>G	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.808C>G	X.37:g.106066677C>G	ENSP00000349781:p.Pro270Ala					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.P270A|TBC1D8B_uc004emn.2_Missense_Mutation_p.P270A	p.P270A	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			5	973	+			270					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.808C>G	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996496	0.74818	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.24350	2.96;2.41;1.86;2.99	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.991;0.994	T	0.52351	-0.8587	10	0.48119	T	0.1	-14.2024	17.1413	0.86754	0.0:1.0:0.0:0.0	.	270;270;270	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	A	270	ENSP00000349781:P270A;ENSP00000310675:P270A;ENSP00000421375:P270A;ENSP00000276175:P270A	ENSP00000276175:P270A	P	+	1	0	TBC1D8B	105953333	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.364000	0.80123	0.538000	0.68166	CCT		0.313	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2		NM_017752		55	21	0	0	0	0.01441	0	55	21		
VSIG1	340547	broad.mit.edu	37	X	107319443	107319443	+	Silent	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:107319443A>G	ENST00000217957.5	+	6	942	c.825A>G	c.(823-825)gaA>gaG	p.E275E	VSIG1_ENST00000415430.3_Silent_p.E311E	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	275						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CCATCGCGGAACTTGAGTAAG	0.403																																						uc004eno.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(823-825)GAA>GAG		V-set and immunoglobulin domain containing 1							162.0	140.0	147.0					X																	107319443		2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107319443A>G	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.825A>G	X.37:g.107319443A>G						VSIG1_uc011msk.1_Silent_p.E311E	p.E275E	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN			6	986	+			275			Cytoplasmic (Potential).		C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.825A>G	CCDS14535.1																																																																																				0.403	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1		NM_182607		47	18	0	0	0	0.01441	0	47	18		
GLUD2	2747	broad.mit.edu	37	X	120181908	120181908	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:120181908C>T	ENST00000328078.1	+	1	447	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	124					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CCCCATCCGGCGCGACGACGG	0.642																																						uc004eto.2		NaN																	0				pancreas(1)	1						c.(370-372)CGC>TGC		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						58.0	45.0	50.0					X																	120181908		2202	4277	6479	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181908C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.370C>T	X.37:g.120181908C>T	ENSP00000327589:p.Arg124Cys						p.R124C	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	447	+			124					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.370C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978015	0.53720	.	.	ENSG00000182890	ENST00000328078	D	0.96830	-4.14	1.68	1.68	0.24146	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.054671	0.64402	D	0.000002	D	0.97617	0.9219	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96309	0.9227	10	0.87932	D	0	-19.7725	4.9677	0.14098	0.3539:0.6461:0.0:0.0	.	124	P49448	DHE4_HUMAN	C	124	ENSP00000327589:R124C	ENSP00000327589:R124C	R	+	1	0	GLUD2	120009589	1.000000	0.71417	0.006000	0.13384	0.022000	0.10575	1.084000	0.30828	1.166000	0.42689	0.472000	0.43445	CGC		0.642	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1		NM_012084		18	24	0	0	0	0.00499	0	18	24		
SMARCA1	6594	broad.mit.edu	37	X	128599886	128599886	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:128599886G>C	ENST00000371122.4	-	22	2881	c.2752C>G	c.(2752-2754)Caa>Gaa	p.Q918E	SMARCA1_ENST00000371121.3_Missense_Mutation_p.Q906E|SMARCA1_ENST00000371123.1_Missense_Mutation_p.Q906E	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	918					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGTTCAATTTGAGCCATAATT	0.328																																						uc004eun.3		NaN																	0				ovary(3)|skin(1)	4						c.(2752-2754)CAA>GAA		SWI/SNF-related matrix-associated							152.0	131.0	138.0					X																	128599886		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599886G>C	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2752C>G	X.37:g.128599886G>C	ENSP00000360163:p.Gln918Glu					SMARCA1_uc004eup.3_Missense_Mutation_p.Q906E|SMARCA1_uc011muk.1_Missense_Mutation_p.Q918E|SMARCA1_uc011mul.1_Missense_Mutation_p.Q906E	p.Q918E	NM_003069	NP_003060	P28370	SMCA1_HUMAN			22	2865	-			918					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.2752C>G	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063194	0.55432	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.78	5.73	5.73	0.89815	SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000006	D	0.94991	0.8379	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.994;0.996	P;P;P;P	0.61874	0.895;0.895;0.831;0.895	D	0.93633	0.6958	10	0.27785	T	0.31	-13.7258	18.8727	0.92322	0.0:0.0:1.0:0.0	.	897;918;906;918	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	E	906;906;918;897	ENSP00000360162:Q906E;ENSP00000360164:Q906E;ENSP00000360163:Q918E;ENSP00000404275:Q897E	ENSP00000360162:Q906E	Q	-	1	0	SMARCA1	128427567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.403000	0.81681	0.600000	0.82982	CAA		0.328	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1		NM_003069		16	58	0	0	0	0.004007	0	16	58		
HTATSF1	27336	broad.mit.edu	37	X	135593696	135593696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:135593696G>T	ENST00000218364.4	+	9	1966	c.1792G>T	c.(1792-1794)Gaa>Taa	p.E598*	HTATSF1_ENST00000535601.1_Nonsense_Mutation_p.E598*	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	598	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAATGACTCTGAAAACTCCGA	0.388																																						uc004ezw.2		NaN																	0				ovary(2)|breast(1)	3						c.(1792-1794)GAA>TAA		HIV-1 Tat specific factor 1							56.0	61.0	59.0					X																	135593696		2202	4296	6498	SO:0001587	stop_gained	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593696G>T	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1792G>T	X.37:g.135593696G>T	ENSP00000218364:p.Glu598*					HTATSF1_uc004ezx.2_Nonsense_Mutation_p.E598*	p.E598*	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			10	2214	+	Acute lymphoblastic leukemia(192;0.000127)		598			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Nonsense_Mutation	SNP	ENST00000218364.4	37	c.1792G>T	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703974	0.96812	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	.	.	.	4.64	4.64	0.57946	.	0.405610	0.21259	N	0.077517	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.6116	14.3398	0.66617	0.0:0.0:1.0:0.0	.	.	.	.	X	598	.	ENSP00000218364:E598X	E	+	1	0	HTATSF1	135421362	0.425000	0.25498	0.038000	0.18304	0.017000	0.09413	2.115000	0.41921	2.561000	0.86390	0.523000	0.50628	GAA		0.388	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1		NM_014500		29	50	1	0	8.58068e-18	0.007291	9.33695e-18	29	50		
L1CAM	3897	broad.mit.edu	37	X	153135920	153135920	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:153135920G>A	ENST00000370060.1	-	8	918	c.729C>T	c.(727-729)ctC>ctT	p.L243L	L1CAM_ENST00000361981.3_Silent_p.L238L|L1CAM_ENST00000538883.1_Silent_p.L245L|L1CAM_ENST00000370057.3_Silent_p.L243L|L1CAM_ENST00000370055.1_Silent_p.L238L|L1CAM_ENST00000543994.1_Silent_p.L245L|L1CAM_ENST00000361699.4_Silent_p.L243L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	243	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGGGAAGAGCAGGCGCG	0.632																																						uc004fjb.2		NaN																	0				ovary(8)|central_nervous_system(1)	9						c.(727-729)CTC>CTT		L1 cell adhesion molecule isoform 1 precursor							65.0	62.0	63.0					X																	153135920		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135920G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.729C>T	X.37:g.153135920G>A						L1CAM_uc004fjc.2_Silent_p.L243L|L1CAM_uc010nuo.2_Silent_p.L238L|L1CAM_uc004fjd.1_Silent_p.L57L|L1CAM_uc004fje.1_Silent_p.L238L	p.L243L	NM_000425	NP_000416	P32004	L1CAM_HUMAN			7	837	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		243			Extracellular (Potential).|Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.729C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2		NM_024003		4	20	0	0	0	0.009096	0	4	20		
TKTL1	8277	broad.mit.edu	37	X	153557916	153557916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:153557916C>T	ENST00000369915.3	+	13	1858	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	TKTL1_ENST00000217905.7_Nonsense_Mutation_p.Q297*|TKTL1_ENST00000369912.2_Nonsense_Mutation_p.Q501*	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	557					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGACATTCAGGTTCATTC	0.542																																						uc004fkg.2		NaN																	0				ovary(3)|skin(1)	4						c.(1669-1671)CAG>TAG		transketolase-like 1 isoform a							145.0	132.0	137.0					X																	153557916		2203	4300	6503	SO:0001587	stop_gained	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153557916C>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1669C>T	X.37:g.153557916C>T	ENSP00000358931:p.Gln557*					TKTL1_uc011mzl.1_Nonsense_Mutation_p.Q551*|TKTL1_uc011mzm.1_Nonsense_Mutation_p.Q353*|TKTL1_uc004fkh.2_Nonsense_Mutation_p.Q501*	p.Q557*	NM_012253	NP_036385	P51854	TKTL1_HUMAN			13	1855	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		557					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Nonsense_Mutation	SNP	ENST00000369915.3	37	c.1669C>T	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.565025	0.27915	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	.	.	.	5.43	-10.9	0.00192	.	1.559850	0.04199	N	0.329787	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0275	3.2786	0.06907	0.3902:0.1412:0.3318:0.1368	.	.	.	.	X	557;518;297;501	.	ENSP00000217905:Q297X	Q	+	1	0	TKTL1	153211110	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.459000	0.01000	-3.875000	0.00096	-1.789000	0.00628	CAG		0.542	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1		NM_012253		8	75	0	0	0	0.00308	0	8	75		
NASP	4678	broad.mit.edu	37	1	46082055	46082055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:46082055delC	ENST00000350030.3	+	12	2156	c.2069delC	c.(2068-2070)tcafs	p.S690fs	NASP_ENST00000402363.3_Frame_Shift_Del_p.S692fs|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Frame_Shift_Del_p.S351fs|NASP_ENST00000372052.4_Frame_Shift_Del_p.S324fs|NASP_ENST00000537798.1_Frame_Shift_Del_p.S626fs	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	690					blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAGGCTCTTCAGTCTCCATG	0.488																																						uc001coi.1		NaN																	0				ovary(1)	1						c.(2068-2070)TCAfs		nuclear autoantigenic sperm protein isoform 2							203.0	196.0	199.0					1																	46082055		2203	4300	6503	SO:0001589	frameshift_variant	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46082055delC	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.2069delC	1.37:g.46082055delC	ENSP00000255120:p.Ser690fs					NASP_uc001coh.1_Frame_Shift_Del_p.S692fs|NASP_uc001coj.1_Frame_Shift_Del_p.S351fs|NASP_uc010olr.1_Frame_Shift_Del_p.S626fs|NASP_uc001col.1_Frame_Shift_Del_p.S198fs	p.S690fs	NM_002482	NP_002473	P49321	NASP_HUMAN			12	2171	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		690					A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Frame_Shift_Del	DEL	ENST00000350030.3	37	c.2069delC	CCDS524.1																																																																																				0.488	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2		NM_002482		79	129	NaN	NaN	NaN	NaN	NaN	79	129	---	---
USP33	23032	broad.mit.edu	37	1	78180315	78180315	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:78180315delA	ENST00000370793.1	-	20	2638	c.2292delT	c.(2290-2292)tttfs	p.F764fs	USP33_ENST00000370794.3_Frame_Shift_Del_p.F733fs|USP33_ENST00000370792.3_Frame_Shift_Del_p.F756fs|USP33_ENST00000357428.1_Frame_Shift_Del_p.F764fs	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	764	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GAATACAAAGAAAGTCATTAT	0.368																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NaN																	0				lung(2)|ovary(1)	3						c.(2290-2292)TTTfs		ubiquitin specific protease 33 isoform 1							78.0	81.0	80.0					1																	78180315		2203	4300	6503	SO:0001589	frameshift_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78180315delA	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2292delT	1.37:g.78180315delA	ENSP00000359829:p.Phe764fs					USP33_uc001dhs.2_Frame_Shift_Del_p.F485fs|USP33_uc001dhu.2_Frame_Shift_Del_p.F733fs|USP33_uc001dhv.2_Frame_Shift_Del_p.F569fs|USP33_uc001dhw.2_Frame_Shift_Del_p.F756fs	p.F764fs	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			20	2639	-			764			DUSP 1.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Frame_Shift_Del	DEL	ENST00000370793.1	37	c.2292delT	CCDS678.1																																																																																				0.368	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2		NM_015017		43	82	NaN	NaN	NaN	NaN	NaN	43	82	---	---
HIP1R	9026	broad.mit.edu	37	12	123345546	123345546	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:123345546delG	ENST00000253083.4	+	29	2975	c.2850delG	c.(2848-2850)gtgfs	p.V950fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	950	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAATGTGGTGGCCTCCACCA	0.637																																						uc001udj.1		NaN																	0				ovary(1)	1						c.(2848-2850)GTGfs		huntingtin interacting protein-1-related							54.0	51.0	52.0					12																	123345546		2203	4300	6503	SO:0001589	frameshift_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123345546delG	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2850delG	12.37:g.123345546delG	ENSP00000253083:p.Val950fs					HIP1R_uc001udk.1_Frame_Shift_Del_p.V215fs	p.V950fs	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	29	2909	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		950			I/LWEQ.		A6NHQ6|Q6NXG8|Q9UED9	Frame_Shift_Del	DEL	ENST00000253083.4	37	c.2850delG	CCDS31922.1																																																																																				0.637	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959		20	18	NaN	NaN	NaN	NaN	NaN	20	18	---	---
SACS	26278	broad.mit.edu	37	13	23915245	23915246	+	In_Frame_Ins	INS	-	-	TTC			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:23915245_23915246insTTC	ENST00000382292.3	-	9	3042_3043	c.2769_2770insGAA	c.(2767-2772)gaattg>gaaGAAttg	p.923_924insE	SACS_ENST00000382298.3_In_Frame_Ins_p.923_924insE|SACS_ENST00000402364.1_In_Frame_Ins_p.173_174insE			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	923					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)		AATATTGCCAATTCTTGAATAA	0.376																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2767-2772)insGAA		sacsin																																				SO:0001652	inframe_insertion	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.chr13:23915245_23915246insTTC	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.2767_2769dupGAA	13.37:g.23915246_23915248dupTTC	ENSP00000371729:p.Glu923_Glu923dup					SACS_uc001uoo.2_In_Frame_Ins_p.776_777insE|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.923_924insE	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	3358_3359	-		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)	923_924					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	In_Frame_Ins	INS	ENST00000382292.3	37	c.2769_2770insGAA	CCDS9300.2																																																																																				0.376	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		41	98	NaN	NaN	NaN	NaN	NaN	41	98	---	---
KCTD8	386617	broad.mit.edu	37	4	44176909	44176909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:44176909delC	ENST00000360029.3	-	2	1603	c.1320delG	c.(1318-1320)atgfs	p.M440fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	440					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACACTTTTTCATTTCTTCTT	0.398										HNSCC(17;0.042)																												uc003gwu.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1318-1320)ATGfs		potassium channel tetramerisation domain							155.0	163.0	160.0					4																	44176909		2203	4300	6503	SO:0001589	frameshift_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176909delC	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1320delG	4.37:g.44176909delC	ENSP00000353129:p.Met440fs	HNSCC(17;0.042)					p.M440fs	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1604	-			440					A2RU39	Frame_Shift_Del	DEL	ENST00000360029.3	37	c.1320delG	CCDS3467.1																																																																																				0.398	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1				36	116	NaN	NaN	NaN	NaN	NaN	36	116	---	---
CTNND2	1501	broad.mit.edu	37	5	11199639	11199639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:11199639delC	ENST00000304623.8	-	11	2085	c.1896delG	c.(1894-1896)ctgfs	p.L632fs	CTNND2_ENST00000503622.1_Frame_Shift_Del_p.L295fs|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.L541fs|CTNND2_ENST00000458100.2_Frame_Shift_Del_p.L199fs|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.L632fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	632					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACAGTTTTTCAGGGCAATTT	0.498																																						uc003jfa.1		NaN																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1894-1896)CTGfs		catenin (cadherin-associated protein), delta 2							168.0	165.0	166.0					5																	11199639		2203	4300	6503	SO:0001589	frameshift_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199639delC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1896delG	5.37:g.11199639delC	ENSP00000307134:p.Leu632fs					CTNND2_uc010itt.2_Frame_Shift_Del_p.L541fs|CTNND2_uc011cmy.1_Frame_Shift_Del_p.L295fs|CTNND2_uc011cmz.1_Frame_Shift_Del_p.L199fs|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Frame_Shift_Del_p.L199fs	p.L632fs	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			11	2041	-			632			ARM 4.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	ENST00000304623.8	37	c.1896delG	CCDS3881.1																																																																																				0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332		59	81	NaN	NaN	NaN	NaN	NaN	59	81	---	---
MYLIP	29116	broad.mit.edu	37	6	16144013	16144022	+	Frame_Shift_Del	DEL	TCGTGCTCTT	TCGTGCTCTT	-	rs374072017		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:16144013_16144022delTCGTGCTCTT	ENST00000356840.3	+	5	944_953	c.746_755delTCGTGCTCTT	c.(745-756)atcgtgctcttgfs	p.IVLL249fs	MYLIP_ENST00000349606.4_Frame_Shift_Del_p.IVLL68fs|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	249	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGGAACAGCATCGTGCTCTTGTTTAAAATG	0.519																																						uc003nbq.2		NaN																	0				pancreas(1)	1						c.(745-756)ATCGTGCTCTTGfs		myosin regulatory light chain interacting																																				SO:0001589	frameshift_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16144013_16144022delTCGTGCTCTT	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.746_755delTCGTGCTCTT	6.37:g.16144013_16144022delTCGTGCTCTT	ENSP00000349298:p.Ile249fs					MYLIP_uc003nbr.2_Frame_Shift_Del_p.I68fs	p.I249fs	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	983_992	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	249_252			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Frame_Shift_Del	DEL	ENST00000356840.3	37	c.746_755delTCGTGCTCTT	CCDS4536.1																																																																																				0.519	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1		NM_013262		40	116	NaN	NaN	NaN	NaN	NaN	40	116	---	---
