#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIB2	142678	broad.mit.edu	37	1	1565853	1565853	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:1565853C>G	ENST00000357210.4	+	20	3201	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000504599.1_Silent_p.L951L|MIB2_ENST00000355826.5_Silent_p.L1038L|MIB2_ENST00000378708.1_Silent_p.L901L|MIB2_ENST00000378712.1_3'UTR|MIB2_ENST00000520777.1_Silent_p.L1048L|MIB2_ENST00000378710.3_Silent_p.L959L|MIB2_ENST00000360522.4_Silent_p.L960L|MIB2_ENST00000505820.2_Silent_p.L1052L|MIB2_ENST00000518681.1_Silent_p.L987L|MMP23B_ENST00000378675.3_5'Flank	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	995					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L995L(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTCCGCGCTCAGCGCCTGCC	0.716																																							uc001agg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2983-2985)CTC>CTG		mindbomb homolog 2							6.0	9.0	8.0					1																	1565853		1979	4054	6033	SO:0001819	synonymous_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1565853C>G	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2985C>G	1.37:g.1565853C>G						MIB2_uc001agh.2_Silent_p.L981L|MIB2_uc001agi.2_Silent_p.L991L|MIB2_uc001agj.2_Silent_p.L836L|MIB2_uc001agk.2_Silent_p.L930L|MIB2_uc001agm.2_3'UTR|MIB2_uc010nyq.1_Silent_p.L951L|MIB2_uc009vkh.2_Silent_p.L801L|MIB2_uc001agn.2_Silent_p.L627L|MIB2_uc001ago.2_Silent_p.L78L|MMP23B_uc001agp.2_5'Flank|MMP23B_uc001agq.2_5'Flank|MMP23B_uc001agr.2_5'Flank|MMP23B_uc009vki.2_5'Flank	p.L995L	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	20	3112	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	995			RING-type 2.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37	c.2985C>G		.	.	.	.	.	.	.	.	.	.	-	10.46	1.356235	0.24598	.	.	ENSG00000197530	ENST00000514234	.	.	.	4.03	3.09	0.35607	.	.	.	.	.	T	0.52175	0.1718	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44019	-0.9355	4	.	.	.	-17.7271	4.8457	0.13512	0.0:0.4745:0.3196:0.2059	.	.	.	.	E	811	.	.	Q	+	1	0	MIB2	1555716	0.868000	0.29978	1.000000	0.80357	0.992000	0.81027	-0.056000	0.11787	0.780000	0.33566	0.450000	0.29827	CAG		0.716	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		6	12	0	0	0	0.001168	0	6	12				
CDK11A	728642	broad.mit.edu	37	1	1647827	1647827	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:1647827T>A	ENST00000378633.1	-	5	495	c.416A>T	c.(415-417)cAg>cTg	p.Q139L	CDK11A_ENST00000378638.2_Missense_Mutation_p.Q115L|CDK11A_ENST00000356200.3_Missense_Mutation_p.Q115L|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q139L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q149L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q139L|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q139L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	139	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)	p.E149V(1)|p.Q139L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCTTCTCTTCTGTCTTTCCCA	0.502																																					Pancreas(186;965 2119 30274 40311 50569)		uc001agv.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(451-453)CAG>CTG		cell division cycle 2-like 1 (PITSLRE proteins)							227.0	229.0	229.0					1																	1647827		1996	4166	6162	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1647827T>A	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.416A>T	1.37:g.1647827T>A	ENSP00000367900:p.Gln139Leu					CDK11B_uc001ags.1_5'UTR|CDK11B_uc001agt.1_5'UTR|CDK11B_uc001aha.1_Missense_Mutation_p.Q117L|CDK11B_uc001agw.1_Missense_Mutation_p.Q106L|CDK11B_uc001agy.1_Missense_Mutation_p.Q140L|CDK11B_uc001agx.1_Missense_Mutation_p.Q140L|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.Q139L|CDK11A_uc009vks.2_Missense_Mutation_p.Q149L|CDK11A_uc010nys.1_Missense_Mutation_p.Q139L|CDK11A_uc010nyt.1_Missense_Mutation_p.Q149L|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_Missense_Mutation_p.Q139L|CDK11A_uc009vku.1_Missense_Mutation_p.Q139L|CDK11A_uc009vkv.1_Missense_Mutation_p.Q149L|CDK11A_uc001aht.1_Missense_Mutation_p.Q139L|CDK11B_uc001ahu.1_Missense_Mutation_p.Q139L|CDK11B_uc001ahv.1_Missense_Mutation_p.Q149L|CDK11B_uc001ahw.1_Missense_Mutation_p.Q149L	p.Q151L	NM_033486	NP_277021	P21127	CD11B_HUMAN			9	563	-			151			Glu-rich.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.452A>T		.	.	.	.	.	.	.	.	.	.	T	20.9	4.072333	0.76415	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69	4.56	4.56	0.56223	.	0.591461	0.16067	U	0.231204	T	0.25680	0.0625	L	0.29908	0.895	0.52501	D	0.99995	P;D;D;D;P;P;D;D;D;D;D	0.76494	0.936;0.987;0.971;0.988;0.955;0.908;0.988;0.999;0.992;0.962;0.997	P;D;D;P;P;D;P;D;D;D;D	0.87578	0.885;0.953;0.912;0.615;0.725;0.922;0.615;0.998;0.933;0.946;0.958	T	0.01549	-1.1327	10	0.49607	T	0.09	.	13.2662	0.60135	0.0:0.0:0.0:1.0	.	149;139;149;139;149;139;115;141;139;107;151	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	L	115;149;139;139;139;115;115;139;139	ENSP00000348529:Q115L;ENSP00000384442:Q149L;ENSP00000350403:Q139L;ENSP00000351629:Q139L;ENSP00000367900:Q139L;ENSP00000367905:Q115L;ENSP00000367902:Q139L;ENSP00000423900:Q139L	ENSP00000348529:Q115L	Q	-	2	0	CDK11A	1637687	1.000000	0.71417	0.986000	0.45419	0.718000	0.41266	6.390000	0.73204	1.915000	0.55452	0.444000	0.29173	CAG		0.502	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		8	73	0	0	0	0.014323	0	8	73				
PANK4	55229	broad.mit.edu	37	1	2451331	2451331	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:2451331C>T	ENST00000378466.3	-	6	774	c.762G>A	c.(760-762)gtG>gtA	p.V254V	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Silent_p.V215V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	254					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.V254V(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGACGTCCCGCACCAGCATGT	0.682																																							uc001ajm.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3						c.(760-762)GTG>GTA		pantothenate kinase 4							15.0	16.0	16.0					1																	2451331		2175	4262	6437	SO:0001819	synonymous_variant	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2451331C>T	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.762G>A	1.37:g.2451331C>T						PANK4_uc010nza.1_Silent_p.V215V	p.V254V	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	6	771	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	254					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	c.762G>A	CCDS42.1																																																																																				0.682	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			6	5	0	0	0	0.001168	0	6	5				
MMEL1	79258	broad.mit.edu	37	1	2535350	2535350	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:2535350C>T	ENST00000378412.3	-	11	1175	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	MMEL1_ENST00000288709.6_Silent_p.E329E|MMEL1_ENST00000502556.1_Silent_p.E181E			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	338						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E329E(2)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTGCAGCTCCTCCAGTCCCA	0.662																																							uc001ajy.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1012-1014)GAG>GAA		membrane metallo-endopeptidase-like 1							126.0	109.0	115.0					1																	2535350		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2535350C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1014G>A	1.37:g.2535350C>T						MMEL1_uc009vlg.1_RNA	p.E338E	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	11	1228	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	338			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.1014G>A	CCDS30569.2																																																																																				0.662	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		21	87	0	0	0	0.003954	0	21	87				
PRDM16	63976	broad.mit.edu	37	1	3328985	3328985	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:3328985G>T	ENST00000270722.5	+	9	2273	c.2224G>T	c.(2224-2226)Gac>Tac	p.D742Y	PRDM16_ENST00000441472.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000442529.2_Missense_Mutation_p.D742Y|PRDM16_ENST00000511072.1_Missense_Mutation_p.D743Y|PRDM16_ENST00000378398.3_Missense_Mutation_p.D743Y|PRDM16_ENST00000514189.1_Missense_Mutation_p.D743Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	742	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.D742Y(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCACGGACCGAGCCCT	0.647			T	EVI1	"""MDS, AML"""																																		uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(2224-2226)GAC>TAC		PR domain containing 16 isoform 1							70.0	81.0	77.0					1																	3328985		2056	4174	6230	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328985G>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2224G>T	1.37:g.3328985G>T	ENSP00000270722:p.Asp742Tyr					PRDM16_uc001akc.2_Missense_Mutation_p.D742Y|PRDM16_uc001akd.2_Missense_Mutation_p.D742Y|PRDM16_uc001ake.2_Missense_Mutation_p.D742Y|PRDM16_uc009vlh.2_Missense_Mutation_p.D443Y	p.D742Y	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	9	2304	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	742			Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.2224G>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292901	0.40594	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.11495	2.81;2.81;2.82;2.81;2.79;2.83;2.82;2.77;2.78	4.37	4.37	0.52481	.	0.120271	0.34725	U	0.003724	T	0.31231	0.0790	M	0.71581	2.175	0.51767	D	0.999931	D;P;D;P	0.67145	0.976;0.823;0.996;0.729	P;P;D;B	0.64144	0.781;0.523;0.922;0.324	T	0.12811	-1.0533	10	0.87932	D	0	.	17.2774	0.87120	0.0:0.0:1.0:0.0	.	742;742;742;742	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Y	743;743;742;742;742;743;742;558;558;551	ENSP00000426975:D743Y;ENSP00000367651:D743Y;ENSP00000407968:D742Y;ENSP00000405253:D742Y;ENSP00000367643:D742Y;ENSP00000421400:D743Y;ENSP00000270722:D742Y;ENSP00000422504:D558Y;ENSP00000425796:D551Y	ENSP00000270722:D742Y	D	+	1	0	PRDM16	3318845	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.205000	0.95048	2.151000	0.67156	0.523000	0.50628	GAC		0.647	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		42	42	1	0	4.42602e-33	0.00874	6.19729e-33	42	42				
TP73	7161	broad.mit.edu	37	1	3649416	3649416	+	Missense_Mutation	SNP	C	C	T	rs530648280		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:3649416C>T	ENST00000378295.4	+	14	1839	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	TP73_ENST00000378288.4_Missense_Mutation_p.R513C|TP73_ENST00000346387.4_Missense_Mutation_p.R466C|TP73_ENST00000357733.3_Missense_Mutation_p.R481C|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000378290.4_Missense_Mutation_p.R491C|TP73_ENST00000604479.1_Missense_Mutation_p.R466C|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000603362.1_Missense_Mutation_p.R481C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	562					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R562C(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCAGCTGCTCCGCTCTAGCAA	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14325	0.001		0.0	False		,,,				2504	0.0						uc001akp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1684-1686)CGC>TGC		tumor protein p73 isoform a							23.0	24.0	24.0					1																	3649416		2197	4280	6477	SO:0001583	missense	7161				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3649416C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1684C>T	1.37:g.3649416C>T	ENSP00000367545:p.Arg562Cys					TP73_uc001akq.2_Intron|TP73_uc001akr.2_Missense_Mutation_p.R513C|TP73_uc009vlk.1_3'UTR|TP73_uc001aks.2_3'UTR|TP73_uc010nzk.1_Missense_Mutation_p.R491C|TP73_uc010nzl.1_Missense_Mutation_p.R111C	p.R562C	NM_005427	NP_005418	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	14	1794	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	562					B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.1684C>T	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665660	0.67700	.	.	ENSG00000078900	ENST00000378295;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378290	D;D;D;D;D	0.99842	-6.97;-7.1;-7.1;-6.93;-6.9	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	L	0.36672	1.1	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	P;P	0.62382	0.901;0.855	D	0.97702	1.0185	10	0.87932	D	0	-14.9502	16.6447	0.85173	0.0:1.0:0.0:0.0	.	513;562	O15350-8;O15350	.;P73_HUMAN	C	562;481;466;513;491	ENSP00000367545:R562C;ENSP00000350366:R481C;ENSP00000340740:R466C;ENSP00000367537:R513C;ENSP00000367539:R491C	ENSP00000340740:R466C	R	+	1	0	TP73	3639276	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	7.353000	0.79414	2.166000	0.68216	0.313000	0.20887	CGC		0.682	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		20	13	0	0	0	0.010504	0	20	13				
ACOT7	11332	broad.mit.edu	37	1	6453348	6453348	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:6453348C>A	ENST00000608083.1	-	1	73	c.16G>T	c.(16-18)Gtc>Ttc	p.V6F	RP1-202O8.3_ENST00000607670.1_RNA|ACOT7_ENST00000361521.4_Missense_Mutation_p.V38F|ACOT7_ENST00000545482.1_5'UTR			O00154	BACH_HUMAN	acyl-CoA thioesterase 7	46					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)	p.V38F(1)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCGTCTCGACGTCTGGGCCC	0.756																																					GBM(74;673 1226 4974 11850 13190)	GBM(74;673 1226 4974 11850 13190)	uc001amt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)GTC>TTC		acyl-CoA thioesterase 7 isoform hBACHa							4.0	6.0	5.0					1																	6453348		1624	3523	5147	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6453348C>A	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000608083.1:c.16G>T	1.37:g.6453348C>A	ENSP00000476610:p.Val6Phe					ACOT7_uc010nzq.1_5'UTR|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA	p.V38F	NM_007274	NP_009205	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	1	479	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000608083.1	37	c.112G>T		.	.	.	.	.	.	.	.	.	.	C	8.556	0.876660	0.17395	.	.	ENSG00000097021	ENST00000361521	T	0.31769	1.48	3.04	0.012	0.14090	.	.	.	.	.	T	0.13415	0.0325	N	0.14661	0.345	0.30425	N	0.777698	B	0.16802	0.019	B	0.12837	0.008	T	0.38178	-0.9673	9	0.10377	T	0.69	.	5.1907	0.15209	0.0:0.5612:0.0:0.4388	.	38	B3KQ12	.	F	38	ENSP00000354615:V38F	ENSP00000354615:V38F	V	-	1	0	ACOT7	6375935	0.002000	0.14202	0.450000	0.26969	0.013000	0.08279	-0.407000	0.07178	0.003000	0.14656	-0.224000	0.12420	GTC		0.756	ACOT7-009	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000473098.1	NM_007274		16	5	1	0	1.02788e-11	0.00499	1.29444e-11	16	5				
TNFRSF25	8718	broad.mit.edu	37	1	6521752	6521752	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:6521752G>C	ENST00000356876.3	-	10	1083	c.996C>G	c.(994-996)ggC>ggG	p.G332G	TNFRSF25_ENST00000377782.3_Silent_p.G341G|TNFRSF25_ENST00000348333.3_Silent_p.G287G|TNFRSF25_ENST00000351959.5_Silent_p.G295G|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000351748.3_Silent_p.G149G	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	332	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.G341G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		AGAGCTGCGGGCCCGGCTGCA	0.711																																							uc001ane.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(994-996)GGC>GGG		tumor necrosis factor receptor superfamily,							7.0	8.0	8.0					1																	6521752		2175	4237	6412	SO:0001819	synonymous_variant	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6521752G>C	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.996C>G	1.37:g.6521752G>C						TNFRSF25_uc001ana.2_Silent_p.G149G|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Silent_p.G105G|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Silent_p.G295G|TNFRSF25_uc001ang.2_Silent_p.G287G|TNFRSF25_uc001anh.2_Silent_p.G341G	p.G332G	NM_003790	NP_003781	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	10	1084	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	332			Death.|Cytoplasmic (Potential).		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	ENST00000356876.3	37	c.996C>G	CCDS71.1																																																																																				0.711	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		9	3	0	0	0	0.006214	0	9	3				
CAMTA1	23261	broad.mit.edu	37	1	7805972	7805972	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:7805972A>G	ENST00000303635.7	+	18	4645	c.4438A>G	c.(4438-4440)Agt>Ggt	p.S1480G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1466G|CAMTA1_ENST00000476864.1_Missense_Mutation_p.S44G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1480G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCTCCCGTCAGTGAAATCGC	0.478			T	WWTR1	epitheliod hemangioendothelioma																																		uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(4438-4440)AGT>GGT		calmodulin-binding transcription activator 1							127.0	131.0	130.0					1																	7805972		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7805972A>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4438A>G	1.37:g.7805972A>G	ENSP00000306522:p.Ser1480Gly					CAMTA1_uc001aok.3_Missense_Mutation_p.S523G|CAMTA1_uc001aoj.2_Missense_Mutation_p.S436G|CAMTA1_uc009vmf.2_Missense_Mutation_p.S70G	p.S1480G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	18	4645	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1480					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4438A>G	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753856	0.49362	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.55588	1.84;1.96;0.51	5.86	4.72	0.59763	.	0.228460	0.52532	D	0.000068	T	0.44371	0.1290	L	0.46157	1.445	0.32198	N	0.578133	B;B;B	0.30406	0.278;0.104;0.012	B;B;B	0.24974	0.057;0.036;0.027	T	0.55405	-0.8146	10	0.56958	D	0.05	-1.8431	11.1721	0.48577	0.9252:0.0:0.0748:0.0	.	543;436;1480	B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;CMTA1_HUMAN	G	1480;1466;543;436;44	ENSP00000306522:S1480G;ENSP00000402561:S1466G;ENSP00000452319:S44G	ENSP00000306522:S1480G	S	+	1	0	CAMTA1	7728559	1.000000	0.71417	0.917000	0.36280	0.969000	0.65631	5.073000	0.64395	1.009000	0.39289	0.533000	0.62120	AGT		0.478	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		30	103	0	0	0	0.010818	0	30	103				
RERE	473	broad.mit.edu	37	1	8425882	8425882	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:8425882G>A	ENST00000337907.3	-	14	2071	c.1437C>T	c.(1435-1437)tcC>tcT	p.S479S	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Silent_p.S211S|RERE_ENST00000400908.2_Silent_p.S479S|RERE_ENST00000400907.2_Silent_p.S479S|RERE_ENST00000460659.1_5'Flank	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	479					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S479S(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGAATTCACTGGACGGGGGTC	0.637																																							uc001ape.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1435-1437)TCC>TCT		atrophin-1 like protein isoform a							77.0	82.0	80.0					1																	8425882		2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8425882G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1437C>T	1.37:g.8425882G>A						RERE_uc001apf.2_Silent_p.S479S|RERE_uc010nzx.1_Silent_p.S211S|RERE_uc001apd.2_5'UTR	p.S479S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	14	2247	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	479					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.1437C>T	CCDS95.1																																																																																				0.637	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			30	39	0	0	0	0.010818	0	30	39				
SPSB1	80176	broad.mit.edu	37	1	9416304	9416304	+	Silent	SNP	G	G	C	rs373505803		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:9416304G>C	ENST00000328089.6	+	2	695	c.354G>C	c.(352-354)gcG>gcC	p.A118A	SPSB1_ENST00000377399.2_Silent_p.A118A|SPSB1_ENST00000357898.3_Silent_p.A118A	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	118	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.A118A(2)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGTGGCGACGGCAGACG	0.662																																							uc010oae.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(352-354)GCG>GCC		splA/ryanodine receptor domain and SOCS box							49.0	53.0	52.0					1																	9416304		2203	4300	6503	SO:0001819	synonymous_variant	80176				intracellular signal transduction	cytoplasm		g.chr1:9416304G>C		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.354G>C	1.37:g.9416304G>C						SPSB1_uc001apv.2_Silent_p.A118A	p.A118A	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	693	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	118			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	37	c.354G>C	CCDS102.1																																																																																				0.662	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		72	50	0	0	0	0.01441	0	72	50				
MASP2	10747	broad.mit.edu	37	1	11087442	11087442	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:11087442C>T	ENST00000400897.3	-	11	1576	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	521	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.E521K(2)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTATAACCTTCATGTATAAAA	0.403																																					GBM(35;611 746 20780 22741 36496)	GBM(35;611 746 20780 22741 36496)	uc001aru.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1561-1563)GAA>AAA		mannan-binding lectin serine protease 2 isoform							171.0	167.0	168.0					1																	11087442		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11087442C>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1561G>A	1.37:g.11087442C>T	ENSP00000383690:p.Glu521Lys						p.E521K	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	11	1582	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	521			Peptidase S1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1561G>A	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156934	0.57259	.	.	ENSG00000009724	ENST00000400897	D	0.93366	-3.21	5.06	5.06	0.68205	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.146689	0.47455	D	0.000231	D	0.92110	0.7499	L	0.49640	1.575	0.80722	D	1	B	0.30068	0.267	B	0.37943	0.261	D	0.91423	0.5160	10	0.56958	D	0.05	.	14.1839	0.65592	0.1503:0.8497:0.0:0.0	.	521	O00187	MASP2_HUMAN	K	521	ENSP00000383690:E521K	ENSP00000383690:E521K	E	-	1	0	MASP2	11010029	0.997000	0.39634	0.233000	0.24025	0.946000	0.59487	4.050000	0.57404	2.330000	0.79161	0.563000	0.77884	GAA		0.403	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		76	70	0	0	0	0.01441	0	76	70				
MTOR	2475	broad.mit.edu	37	1	11297963	11297963	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:11297963C>A	ENST00000361445.4	-	13	2221	c.2145G>T	c.(2143-2145)gtG>gtT	p.V715V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	715					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.V715V(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGAGTCGGCCCACAGTGCAGA	0.577																																							uc001asd.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2143-2145)GTG>GTT		FK506 binding protein 12-rapamycin associated							92.0	76.0	82.0					1																	11297963		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11297963C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2145G>T	1.37:g.11297963C>A							p.V715V	NM_004958	NP_004949	P42345	MTOR_HUMAN			13	2266	-			715					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.2145G>T	CCDS127.1																																																																																				0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		27	33	1	0	1.66031e-10	0.003954	2.04129e-10	27	33				
VPS13D	55187	broad.mit.edu	37	1	12374318	12374318	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:12374318G>A	ENST00000358136.3	+	30	7212	c.7082G>A	c.(7081-7083)tGt>tAt	p.C2361Y	VPS13D_ENST00000356315.4_Missense_Mutation_p.C2361Y	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.C2361Y(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGTTCAGCTGTATCTTTCAG	0.493																																							uc001atv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(7081-7083)TGT>TAT		vacuolar protein sorting 13D isoform 1							136.0	116.0	123.0					1																	12374318		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12374318G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7082G>A	1.37:g.12374318G>A	ENSP00000350854:p.Cys2361Tyr					VPS13D_uc001atw.2_Missense_Mutation_p.C2361Y|VPS13D_uc001atx.2_Missense_Mutation_p.C1549Y|VPS13D_uc001aty.1_Missense_Mutation_p.C99Y	p.C2361Y	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	30	7223	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2361	C -> R (in Ref. 6; CAE46021).					Missense_Mutation	SNP	ENST00000358136.3	37	c.7082G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.006342|3.006342	0.54361|0.54361	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.45276|.	0.9;0.9|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71392|0.71392	0.3334|0.3334	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;P;P|.	0.76494|.	0.999;0.89;0.587|.	D;P;B|.	0.83275|.	0.996;0.505;0.155|.	T|T	0.68473|0.68473	-0.5399|-0.5399	10|5	0.59425|.	D|.	0.04|.	.|.	18.9875|18.9875	0.92777|0.92777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;2361;2361|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	Y|I	2361|1184	ENSP00000348666:C2361Y;ENSP00000350854:C2361Y|.	ENSP00000348666:C2361Y|.	C|V	+|+	2|1	0|0	VPS13D|VPS13D	12296905|12296905	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.063000|0.063000	0.16089|0.16089	9.230000|9.230000	0.95299|0.95299	2.479000|2.479000	0.83701|0.83701	0.561000|0.561000	0.74099|0.74099	TGT|GTA		0.493	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		12	17	0	0	0	0.003163	0	12	17				
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs199623827	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:12885059C>G	ENST00000535591.1	-	4	1247	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C351S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532													.|||	21	0.00419329	0.003	0.0072	5008	,	,		19682	0.001		0.0089	False		,,,				2504	0.002						uc001auk.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(1051-1053)TGC>TCC		PRAME family member 11							36.0	29.0	31.0					1																	12885059		692	1579	2271	SO:0001583	missense	440560							g.chr1:12885059C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1052G>C	1.37:g.12885059C>G	ENSP00000439551:p.Cys351Ser						p.C351S	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1248	-			351			LRR 6.			Missense_Mutation	SNP	ENST00000535591.1	37	c.1052G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.316351	0.00235	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.06371	3.31;3.31	1.52	1.52	0.23074	.	0.067349	0.64402	N	0.000012	T	0.00608	0.0020	N	0.00003	-3.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.02654	T	1	.	5.7253	0.18010	0.0:0.3438:0.6562:0.0	.	351	O60813	PRA11_HUMAN	S	351;392;351	ENSP00000439551:C351S;ENSP00000391839:C351S	ENSP00000328783:C392S	C	-	2	0	PRAMEF11	12807646	0.578000	0.26717	0.014000	0.15608	0.005000	0.04900	0.846000	0.27682	0.208000	0.20626	-0.483000	0.04790	TGC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	165	0	0	0	0.001168	0	4	165				
PADI2	11240	broad.mit.edu	37	1	17431488	17431488	+	Missense_Mutation	SNP	C	C	A	rs367699636		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:17431488C>A	ENST00000375486.4	-	2	224	c.161G>T	c.(160-162)cGt>cTt	p.R54L	PADI2_ENST00000375481.1_Missense_Mutation_p.R54L|PADI2_ENST00000444885.2_Missense_Mutation_p.R54L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	54					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.R54L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTCCCCATCACGCACCACCTC	0.662																																							uc001baf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(160-162)CGT>CTT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						50.0	44.0	46.0					1																	17431488		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17431488C>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.161G>T	1.37:g.17431488C>A	ENSP00000364635:p.Arg54Leu					PADI2_uc010ocm.1_Missense_Mutation_p.R54L|PADI2_uc001bag.1_Missense_Mutation_p.R54L	p.R54L	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	243	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	54					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.161G>T	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	0.995	-0.692917	0.03303	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.10005	2.92;2.92;2.92	5.25	2.04	0.26737	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.753644	0.13100	N	0.413857	T	0.06508	0.0167	L	0.29908	0.895	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.22753	0.011;0.041	T	0.42716	-0.9435	10	0.11794	T	0.64	-0.5674	3.9259	0.09263	0.2006:0.5968:0.0:0.2026	.	54;54	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	L	54	ENSP00000364635:R54L;ENSP00000405894:R54L;ENSP00000364630:R54L	ENSP00000364630:R54L	R	-	2	0	PADI2	17304075	0.000000	0.05858	0.017000	0.16124	0.114000	0.19823	-0.030000	0.12308	1.193000	0.43086	0.655000	0.94253	CGT		0.662	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			39	21	1	0	1.04594e-18	0.00623	1.40231e-18	39	21				
UBR4	23352	broad.mit.edu	37	1	19491400	19491400	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:19491400G>C	ENST00000375254.3	-	32	4431	c.4404C>G	c.(4402-4404)ctC>ctG	p.L1468L	UBR4_ENST00000375217.2_Silent_p.L1468L|UBR4_ENST00000375267.2_Silent_p.L1468L|UBR4_ENST00000375226.2_Silent_p.L1468L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1468					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1468L(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCATGCGGGTGAGCCAGGCCT	0.567																																							uc001bbi.2		NA																	2	Substitution - coding silent(2)		lung(2)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(4402-4404)CTC>CTG		retinoblastoma-associated factor 600							74.0	74.0	74.0					1																	19491400		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19491400G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4404C>G	1.37:g.19491400G>C						UBR4_uc001bbm.1_Silent_p.L679L	p.L1468L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	32	4408	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1468					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.4404C>G	CCDS189.1																																																																																				0.567	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		41	80	0	0	0	0.00623	0	41	80				
FAM43B	163933	broad.mit.edu	37	1	20879649	20879649	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:20879649G>A	ENST00000332947.4	+	1	718	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	61								p.Q61Q(2)		large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GCCGGCGCCAGAAAGTGGAGC	0.692																																							uc001bdj.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(181-183)CAG>CAA		family with sequence similarity 43, member B							51.0	50.0	51.0					1																	20879649		2203	4300	6503	SO:0001819	synonymous_variant	163933							g.chr1:20879649G>A	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.183G>A	1.37:g.20879649G>A							p.Q61Q	NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	718	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	61					A5PKT8|A5PL01	Silent	SNP	ENST00000332947.4	37	c.183G>A	CCDS209.1																																																																																				0.692	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		8	15	0	0	0	0.00308	0	8	15				
KIF17	57576	broad.mit.edu	37	1	21036154	21036154	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:21036154G>A	ENST00000247986.2	-	4	958	c.648C>T	c.(646-648)atC>atT	p.I216I	KIF17_ENST00000375044.1_Silent_p.I116I|KIF17_ENST00000400463.3_Silent_p.I216I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	216	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.I216I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCGATGCTGATGGTGAAGA	0.597																																							uc001bdr.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(646-648)ATC>ATT		kinesin family member 17 isoform a							154.0	106.0	122.0					1																	21036154		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21036154G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.648C>T	1.37:g.21036154G>A						KIF17_uc001bds.3_Silent_p.I216I	p.I216I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	4	766	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	216			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.648C>T	CCDS213.1																																																																																				0.597	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		16	72	0	0	0	0.003163	0	16	72				
HSPG2	3339	broad.mit.edu	37	1	22180713	22180713	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:22180713T>A	ENST00000374695.3	-	50	6491	c.6412A>T	c.(6412-6414)Acc>Tcc	p.T2138S	HSPG2_ENST00000430507.1_Intron	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2138	Ig-like C2-type 6.				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)	p.T2138S(1)		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)	CCAGAATGGGTGCCGTGGAGC	0.617																																							uc001bfj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(6412-6414)ACC>TCC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						17.0	18.0	18.0					1																	22180713		2197	4296	6493	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22180713T>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.6412A>T	1.37:g.22180713T>A	ENSP00000363827:p.Thr2138Ser					HSPG2_uc009vqd.2_Missense_Mutation_p.T2139S	p.T2138S	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)	50	6452	-		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)	2138			Ig-like C2-type 6.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.6412A>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.803894	0.50315	.	.	ENSG00000142798	ENST00000374695	T	0.75938	-0.98	5.56	-7.02	0.01589	.	0.874226	0.09482	N	0.796190	T	0.45895	0.1365	N	0.20574	0.59	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.002;0.004	T	0.38735	-0.9647	10	0.11182	T	0.66	.	2.8543	0.05568	0.1998:0.2392:0.4227:0.1383	.	78;2138	Q59EG0;P98160	.;PGBM_HUMAN	S	2138	ENSP00000363827:T2138S	ENSP00000363827:T2138S	T	-	1	0	HSPG2	22053300	0.000000	0.05858	0.023000	0.16930	0.875000	0.50365	-2.109000	0.01335	-0.858000	0.04110	0.533000	0.62120	ACC		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	6	0	0	0	0.004672	0	3	6				
HSPG2	3339	broad.mit.edu	37	1	22211041	22211041	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:22211041T>C	ENST00000374695.3	-	13	1713	c.1634A>G	c.(1633-1635)gAc>gGc	p.D545G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	545	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)	p.D545G(2)		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)	ATCGGGTTGGTCAAAGCGCAG	0.662																																							uc001bfj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(1633-1635)GAC>GGC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						75.0	82.0	80.0					1																	22211041		2203	4299	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22211041T>C	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.1634A>G	1.37:g.22211041T>C	ENSP00000363827:p.Asp545Gly					HSPG2_uc009vqd.2_Missense_Mutation_p.D546G	p.D545G	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)	13	1674	-		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)	545			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.1634A>G	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.639425	0.47153	.	.	ENSG00000142798	ENST00000374695	T	0.76578	-1.03	5.58	5.58	0.84498	Laminin B type IV (1);	0.000000	0.40144	N	0.001179	D	0.84678	0.5525	L	0.54323	1.7	0.42349	D	0.992368	D	0.69078	0.997	D	0.73380	0.98	D	0.85925	0.1448	10	0.59425	D	0.04	.	13.6913	0.62547	0.0:0.0:0.0:1.0	.	545	P98160	PGBM_HUMAN	G	545	ENSP00000363827:D545G	ENSP00000363827:D545G	D	-	2	0	HSPG2	22083628	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	3.861000	0.56002	2.102000	0.63906	0.496000	0.49642	GAC		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		38	151	0	0	0	0.00874	0	38	151				
MYOM3	127294	broad.mit.edu	37	1	24401952	24401952	+	Silent	SNP	G	G	A	rs531893682		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:24401952G>A	ENST00000374434.3	-	22	2877	c.2715C>T	c.(2713-2715)atC>atT	p.I905I	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Silent_p.I906I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Silent_p.I905I	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	905						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.I905I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCAACCTCGATCTCATGGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17929	0.0		0.001	False		,,,				2504	0.0						uc001bin.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(2713-2715)ATC>ATT		myomesin family, member 3							61.0	59.0	60.0					1																	24401952		1920	4133	6053	SO:0001819	synonymous_variant	127294							g.chr1:24401952G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2715C>T	1.37:g.24401952G>A						MYOM3_uc001bim.3_Silent_p.I562I|MYOM3_uc001bio.2_Silent_p.I905I	p.I905I	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	22	2878	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	905					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.2715C>T	CCDS41281.1																																																																																				0.537	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		8	36	0	0	0	0.004482	0	8	36				
GPR3	2827	broad.mit.edu	37	1	27720714	27720714	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:27720714C>T	ENST00000374024.3	+	2	511	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	138					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L138L(2)		endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTACCTTTCTCTGTACAATGC	0.592																																							uc001bod.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(412-414)CTG>TTG		G protein-coupled receptor 3							162.0	150.0	154.0					1																	27720714		2203	4300	6503	SO:0001819	synonymous_variant	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27720714C>T	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.412C>T	1.37:g.27720714C>T							p.L138L	NM_005281	NP_005272	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	507	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	138			Cytoplasmic (Potential).		A8K570	Silent	SNP	ENST00000374024.3	37	c.412C>T	CCDS303.1																																																																																				0.592	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		64	79	0	0	0	0.01441	0	64	79				
PTPRU	10076	broad.mit.edu	37	1	29609316	29609316	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:29609316G>T	ENST00000345512.3	+	12	2126	c.1997G>T	c.(1996-1998)gGg>gTg	p.G666V	PTPRU_ENST00000428026.2_Missense_Mutation_p.G666V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G666V|PTPRU_ENST00000373779.3_Missense_Mutation_p.G666V|PTPRU_ENST00000356870.3_Missense_Mutation_p.G666V|PTPRU_ENST00000460170.2_Missense_Mutation_p.G666V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	666	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G666V(6)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACTACTTCGGGGCCGAACTG	0.667																																							uc001bru.2		NA																	6	Substitution - Missense(6)		lung(6)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(1996-1998)GGG>GTG		protein tyrosine phosphatase, receptor type, U							65.0	64.0	64.0					1																	29609316		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609316G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1997G>T	1.37:g.29609316G>T	ENSP00000334941:p.Gly666Val					PTPRU_uc001brv.2_Missense_Mutation_p.G666V|PTPRU_uc001brw.2_Missense_Mutation_p.G666V|PTPRU_uc009vtq.2_Missense_Mutation_p.G666V|PTPRU_uc009vtr.2_Missense_Mutation_p.G666V	p.G666V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	2107	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	666			Extracellular (Potential).|Fibronectin type-III 4.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1997G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750807	0.89753	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.30981	1.54;1.57;1.57;1.57;1.51;1.57	5.52	5.52	0.82312	.	0.140451	0.48767	D	0.000167	T	0.45597	0.1350	L	0.50333	1.59	0.80722	D	1	D;D;D;D;P	0.58970	0.984;0.984;0.984;0.972;0.804	P;P;P;P;B	0.56700	0.804;0.804;0.804;0.642;0.305	T	0.15065	-1.0450	9	.	.	.	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	666;666;666;666;666	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	666	ENSP00000334941:G666V;ENSP00000362884:G666V;ENSP00000349333:G666V;ENSP00000314987:G666V;ENSP00000392332:G666V;ENSP00000432906:G666V	.	G	+	2	0	PTPRU	29481903	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.238000	0.78173	2.598000	0.87819	0.549000	0.68633	GGG		0.667	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			48	67	1	0	1.19451e-25	0.01441	1.64557e-25	48	67				
PUM1	9698	broad.mit.edu	37	1	31425212	31425212	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:31425212T>G	ENST00000257075.5	-	16	2685		c.e16-2		PUM1_ENST00000423018.2_Splice_Site|PUM1_ENST00000424085.2_Splice_Site|PUM1_ENST00000373742.2_Splice_Site|PUM1_ENST00000426105.2_Splice_Site|PUM1_ENST00000373747.3_Splice_Site|PUM1_ENST00000373741.4_Splice_Site|PUM1_ENST00000440538.2_Splice_Site	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1						membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.?(2)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGAATGAATCTGAAGTACAAA	0.473																																							uc001bsi.1		NA																	2	Unknown(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.e16-1		pumilio 1 isoform 2							87.0	75.0	79.0					1																	31425212		2203	4300	6503	SO:0001630	splice_region_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31425212T>G	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2592-2A>C	1.37:g.31425212T>G						PUM1_uc001bsf.1_Splice_Site_p.R530_splice|PUM1_uc001bsg.1_Splice_Site_p.R598_splice|PUM1_uc001bsh.1_Splice_Site_p.R864_splice|PUM1_uc001bsj.1_Splice_Site_p.R838_splice|PUM1_uc010oga.1_Splice_Site_p.R720_splice|PUM1_uc001bsk.1_Splice_Site_p.R900_splice|PUM1_uc010ogb.1_Splice_Site_p.R805_splice	p.R864_splice	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	16	2705	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)						A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Splice_Site	SNP	ENST00000257075.5	37	c.2592_splice	CCDS338.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024809	0.75390	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000525843;ENST00000426105;ENST00000498419;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846;ENST00000525997	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3381	0.74273	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PUM1	31197799	1.000000	0.71417	0.973000	0.42090	0.885000	0.51271	7.868000	0.87116	2.205000	0.71048	0.533000	0.62120	.		0.473	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		Intron	21	42	0	0	0	0.010504	0	21	42				
KHDRBS1	10657	broad.mit.edu	37	1	32503611	32503611	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:32503611C>A	ENST00000327300.7	+	6	1248	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P322T|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1									p.P361T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCTCCACCTCCTGCACCAGA	0.527																																					Ovarian(173;401 1982 12359 31110 42403)	Ovarian(173;401 1982 12359 31110 42403)	uc001bub.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1081-1083)CCT>ACT		KH domain containing, RNA binding, signal							72.0	70.0	71.0					1																	32503611		2203	4300	6503	SO:0001583	missense	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503611C>A	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1081C>A	1.37:g.32503611C>A	ENSP00000313829:p.Pro361Thr					KHDRBS1_uc001bua.1_Missense_Mutation_p.P322T|KHDRBS1_uc001buc.1_RNA	p.P361T	NM_006559	NP_006550	Q07666	KHDR1_HUMAN			6	1187	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	361			Pro-rich.			Missense_Mutation	SNP	ENST00000327300.7	37	c.1081C>A	CCDS350.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864239	0.71949	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.46819	0.86;0.88	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	M	0.72118	2.19	0.43745	D	0.996249	B;B	0.32573	0.259;0.376	B;B	0.27887	0.026;0.084	T	0.48747	-0.9008	10	0.41790	T	0.15	.	20.1225	0.97967	0.0:1.0:0.0:0.0	.	361;322	Q07666;Q07666-3	KHDR1_HUMAN;.	T	361;322;337	ENSP00000313829:P361T;ENSP00000417731:P322T	ENSP00000313829:P361T	P	+	1	0	KHDRBS1	32276198	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	4.003000	0.57061	2.937000	0.99478	0.650000	0.86243	CCT		0.527	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		16	104	1	0	3.41278e-10	0.00499	4.18174e-10	16	104				
LCK	3932	broad.mit.edu	37	1	32739958	32739958	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:32739958G>A	ENST00000336890.5	+	2	166	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	LCK_ENST00000373564.3_Missense_Mutation_p.E10K|LCK_ENST00000333070.4_Missense_Mutation_p.E10K	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	10	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.E10K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CTCACACCCGGAAGATGACTG	0.562			T	TRB@	T-ALL																																		uc001bux.2		NA		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(28-30)GAA>AAA		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						101.0	88.0	92.0					1																	32739958		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32739958G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.28G>A	1.37:g.32739958G>A	ENSP00000337825:p.Glu10Lys					LCK_uc001buy.2_Missense_Mutation_p.E10K|LCK_uc001buz.2_Missense_Mutation_p.E10K|LCK_uc010ohc.1_Missense_Mutation_p.E54K|LCK_uc001bva.2_Missense_Mutation_p.E10K	p.E10K	NM_005356	NP_005347	P06239	LCK_HUMAN			2	166	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	10			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.28G>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.250961	0.80135	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.03	5.03	0.67393	.	0.187300	0.35495	N	0.003163	T	0.40694	0.1127	L	0.47716	1.5	0.40155	D	0.976997	B;B;B;B	0.32245	0.361;0.19;0.043;0.009	B;B;B;B	0.28139	0.086;0.074;0.047;0.013	T	0.28459	-1.0043	10	0.17369	T	0.5	.	17.3642	0.87359	0.0:0.0:1.0:0.0	.	54;10;10;10	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	K	10;10;10;10;10;54;54;10;54;10	ENSP00000337825:E10K;ENSP00000431517:E10K;ENSP00000435605:E10K;ENSP00000434525:E10K;ENSP00000362663:E10K;ENSP00000436554:E54K;ENSP00000362658:E54K;ENSP00000328213:E10K;ENSP00000362665:E10K	ENSP00000328213:E10K	E	+	1	0	LCK	32512545	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.307000	0.78920	2.519000	0.84933	0.487000	0.48397	GAA		0.562	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		8	71	0	0	0	0.004482	0	8	71				
S100PBP	64766	broad.mit.edu	37	1	33292344	33292344	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:33292344C>G	ENST00000373475.5	+	3	898	c.644C>G	c.(643-645)tCa>tGa	p.S215*	S100PBP_ENST00000398243.3_Nonsense_Mutation_p.S215*|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Nonsense_Mutation_p.S215*	NM_022753.3	NP_073590.2			S100P binding protein									p.S215*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTCTCTTCTTCAAACAATAAC	0.443																																							uc001bvz.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(643-645)TCA>TGA		S100P binding protein isoform a							68.0	75.0	73.0					1																	33292344		2203	4300	6503	SO:0001587	stop_gained	64766					nucleus	calcium-dependent protein binding	g.chr1:33292344C>G	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.644C>G	1.37:g.33292344C>G	ENSP00000362574:p.Ser215*					S100PBP_uc001bwa.1_Nonsense_Mutation_p.S215*|S100PBP_uc001bwb.1_Nonsense_Mutation_p.S215*|S100PBP_uc001bwc.2_Nonsense_Mutation_p.S215*|S100PBP_uc001bwd.2_RNA	p.S215*	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	921	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	215						Nonsense_Mutation	SNP	ENST00000373475.5	37	c.644C>G	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598809	0.28445	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.73	0.242	0.15498	.	0.893166	0.09640	N	0.775141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2058	5.4495	0.16554	0.0:0.5245:0.1372:0.3384	.	.	.	.	X	215	.	.	S	+	2	0	S100PBP	33064931	0.247000	0.23920	0.195000	0.23364	0.073000	0.16967	-0.031000	0.12287	0.132000	0.18615	0.655000	0.94253	TCA		0.443	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		12	33	0	0	0	0.001855	0	12	33				
CSMD2	114784	broad.mit.edu	37	1	34033349	34033349	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:34033349G>C	ENST00000373381.4	-	53	8400	c.8224C>G	c.(8224-8226)Cct>Gct	p.P2742A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2719	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2719A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGCTCAGGAGTCCCACAG	0.537																																							uc001bxn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(8155-8157)CCT>GCT		CUB and Sushi multiple domains 2							98.0	83.0	88.0					1																	34033349		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34033349G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8224C>G	1.37:g.34033349G>C	ENSP00000362479:p.Pro2742Ala					CSMD2_uc001bxm.1_Missense_Mutation_p.P2742A	p.P2719A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			54	8184	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2719			Sushi 18.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8155C>G		.	.	.	.	.	.	.	.	.	.	G	18.24	3.580449	0.65992	.	.	ENSG00000121904	ENST00000373381	D	0.84730	-1.89	5.07	5.07	0.68467	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.95030	0.8391	H	0.96015	3.755	0.80722	D	1	P;D	0.89917	0.831;1.0	P;D	0.97110	0.895;1.0	D	0.96408	0.9302	10	0.72032	D	0.01	.	17.7969	0.88575	0.0:0.0:1.0:0.0	.	2719;2742	Q7Z408;E7EUA6	CSMD2_HUMAN;.	A	2742	ENSP00000362479:P2742A	ENSP00000241312:P2719A	P	-	1	0	CSMD2	33805936	1.000000	0.71417	0.880000	0.34516	0.807000	0.45602	9.809000	0.99208	2.539000	0.85634	0.655000	0.94253	CCT		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		4	19	0	0	0	0.009096	0	4	19				
EPHA10	284656	broad.mit.edu	37	1	38188721	38188721	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:38188721A>G	ENST00000373048.4	-	10	1951	c.1952T>C	c.(1951-1953)cTt>cCt	p.L651P	EPHA10_ENST00000540011.1_Missense_Mutation_p.L146P|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.L146P|EPHA10_ENST00000427468.2_Missense_Mutation_p.L651P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.L652P(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTCCTCCAAGGCTCCTCTC	0.617																																							uc009vvi.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(4)|stomach(3)|lung(1)	8						c.(1951-1953)CTT>CCT		EPH receptor A10 isofom 3							50.0	56.0	54.0					1																	38188721		2120	4215	6335	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38188721A>G	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1952T>C	1.37:g.38188721A>G	ENSP00000362139:p.Leu651Pro					EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.L651P	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			10	2038	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	651			Cytoplasmic (Potential).|Protein kinase.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1952T>C	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369510	0.42003	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.74526	-0.85;-0.85;2.3;-0.85	3.96	3.96	0.45880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.588917	0.12936	N	0.426949	D	0.87752	0.6256	M	0.92317	3.295	0.58432	D	0.999995	D	0.61697	0.99	P	0.62298	0.9	D	0.88800	0.3284	10	0.87932	D	0	.	12.2969	0.54852	1.0:0.0:0.0:0.0	.	651	Q5JZY3	EPHAA_HUMAN	P	146;651;146;651	ENSP00000330379:L146P;ENSP00000397746:L651P;ENSP00000441822:L146P;ENSP00000362139:L651P	ENSP00000330379:L146P	L	-	2	0	EPHA10	37961308	1.000000	0.71417	0.988000	0.46212	0.062000	0.15995	7.991000	0.88244	1.573000	0.49748	0.260000	0.18958	CTT		0.617	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		27	56	0	0	0	0.007291	0	27	56				
NASP	4678	broad.mit.edu	37	1	46056896	46056896	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:46056896A>T	ENST00000350030.3	+	2	148	c.61A>T	c.(61-63)Att>Ttt	p.I21F	NASP_ENST00000372052.4_Splice_Site_p.I21F|NASP_ENST00000402363.3_5'UTR|NASP_ENST00000351223.3_Splice_Site_p.I21F|NASP_ENST00000537798.1_Splice_Site_p.I21F	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	21					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)					TTATTACAGAATTGAAGATGT	0.299																																							uc001coi.1		NA																	0				ovary(1)	1						c.(61-63)ATT>TTT		nuclear autoantigenic sperm protein isoform 2							62.0	68.0	66.0					1																	46056896		2201	4277	6478	SO:0001630	splice_region_variant	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46056896A>T	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.60-1A>T	1.37:g.46056896A>T						NASP_uc010olq.1_Missense_Mutation_p.I21F|NASP_uc001coh.1_5'UTR|NASP_uc001coj.1_Missense_Mutation_p.I21F|NASP_uc010olr.1_Missense_Mutation_p.I21F	p.I21F	NM_002482	NP_002473	P49321	NASP_HUMAN			2	163	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		21					A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.61A>T	CCDS524.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621258	0.28889	.	.	ENSG00000132780	ENST00000437901;ENST00000527470;ENST00000537798;ENST00000528238;ENST00000350030;ENST00000470768;ENST00000372052;ENST00000351223	T;T;T;T;T	0.60171	0.45;0.21;0.87;0.85;0.9	4.21	1.75	0.24633	.	.	.	.	.	T	0.37128	0.0992	N	0.19112	0.55	0.80722	D	1	P;P;B;B	0.38195	0.571;0.622;0.232;0.232	B;B;B;B	0.35688	0.208;0.207;0.032;0.103	T	0.14309	-1.0477	9	0.72032	D	0.01	.	6.1651	0.20386	0.7861:0.0:0.2139:0.0	.	21;21;21;21	F5H3J2;Q53H03;Q5T626;P49321	.;.;.;NASP_HUMAN	F	21	ENSP00000438871:I21F;ENSP00000432289:I21F;ENSP00000255120:I21F;ENSP00000361122:I21F;ENSP00000255121:I21F	ENSP00000255120:I21F	I	+	1	0	NASP	45829483	0.997000	0.39634	0.992000	0.48379	0.429000	0.31625	0.207000	0.17395	0.233000	0.21120	0.260000	0.18958	ATT		0.299	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482	Missense_Mutation	3	44	0	0	0	0.004672	0	3	44				
CYP4X1	260293	broad.mit.edu	37	1	47505153	47505153	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:47505153G>A	ENST00000371901.3	+	8	1272	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.R340K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	341						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R341K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATCAAGAGAGATGCCGGGAG	0.522																																							uc001cqt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1021-1023)AGA>AAA		cytochrome P450, family 4, subfamily X,							73.0	72.0	72.0					1																	47505153		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47505153G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1022G>A	1.37:g.47505153G>A	ENSP00000360968:p.Arg341Lys					CYP4X1_uc001cqr.2_Missense_Mutation_p.R340K|CYP4X1_uc001cqs.2_Missense_Mutation_p.R276K	p.R341K	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			8	1272	+			341					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1022G>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320035	0.41096	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.75154	-0.91;-0.1	5.14	1.17	0.20885	.	0.425847	0.24271	N	0.039986	T	0.53433	0.1796	N	0.12569	0.235	0.23739	N	0.996978	B;B	0.19073	0.033;0.026	B;B	0.25291	0.059;0.023	T	0.44097	-0.9350	10	0.35671	T	0.21	.	8.6137	0.33817	0.3769:0.0:0.6231:0.0	.	341;340	Q8N118;G3V1U1	CP4X1_HUMAN;.	K	340;341	ENSP00000445965:R340K;ENSP00000360968:R341K	ENSP00000360968:R341K	R	+	2	0	CYP4X1	47277740	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	0.612000	0.24283	0.345000	0.23873	0.563000	0.77884	AGA		0.522	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		17	29	0	0	0	0.008871	0	17	29				
FOXE3	2301	broad.mit.edu	37	1	47882444	47882444	+	Missense_Mutation	SNP	G	G	T	rs367943249		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:47882444G>T	ENST00000335071.2	+	1	701	c.457G>T	c.(457-459)Gac>Tac	p.D153Y		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	153					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D153Y(1)|p.D153N(1)		lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGCGGCCGCAGACATGTTCGA	0.721																																							uc001crk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(457-459)GAC>TAC		forkhead box E3							28.0	31.0	30.0					1																	47882444		2201	4298	6499	SO:0001583	missense	2301				cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	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.chr1:47882444G>T	AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.457G>T	1.37:g.47882444G>T	ENSP00000334472:p.Asp153Tyr						p.D153Y	NM_012186	NP_036318	Q13461	FOXE3_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	701	+			153			Fork-head.		Q5SVY9|Q9NQV9	Missense_Mutation	SNP	ENST00000335071.2	37	c.457G>T	CCDS550.1	.	.	.	.	.	.	.	.	.	.	g	17.03	3.285466	0.59867	.	.	ENSG00000186790	ENST00000335071	D	0.95724	-3.79	3.45	3.45	0.39498	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.39407	U	0.001374	D	0.97136	0.9064	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97833	1.0264	10	0.87932	D	0	.	15.087	0.72162	0.0:0.0:1.0:0.0	.	153	Q13461	FOXE3_HUMAN	Y	153	ENSP00000334472:D153Y	ENSP00000334472:D153Y	D	+	1	0	FOXE3	47655031	1.000000	0.71417	0.994000	0.49952	0.438000	0.31896	3.189000	0.50965	1.749000	0.51849	0.454000	0.30748	GAC		0.721	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021836.1	NM_012186		7	53	1	0	8.12818e-05	0.001984	8.78788e-05	7	53				
USP1	7398	broad.mit.edu	37	1	62910485	62910485	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:62910485C>G	ENST00000339950.4	+	6	1449	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	USP1_ENST00000371146.1_Missense_Mutation_p.Q212E	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	212	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q212E(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGGAAACATTCAAGAAACATG	0.338																																					Ovarian(122;1846 2315 3982 19504)	Ovarian(122;1846 2315 3982 19504)	uc001daj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(634-636)CAA>GAA		ubiquitin specific protease 1							69.0	76.0	74.0					1																	62910485		2201	4298	6499	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62910485C>G		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.634C>G	1.37:g.62910485C>G	ENSP00000343526:p.Gln212Glu					USP1_uc001dak.1_Missense_Mutation_p.Q212E|USP1_uc001dal.1_Missense_Mutation_p.Q212E	p.Q212E	NM_001017415	NP_001017415	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	6	962	+		all_neural(321;0.0281)	212					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.634C>G	CCDS621.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545178	0.86022	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.71934	-0.61;-0.61	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.79793	0.4507	L	0.43152	1.355	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	T	0.74506	-0.3643	10	0.27082	T	0.32	-12.2194	19.5818	0.95469	0.0:1.0:0.0:0.0	.	212	O94782	UBP1_HUMAN	E	212	ENSP00000360188:Q212E;ENSP00000343526:Q212E	ENSP00000343526:Q212E	Q	+	1	0	USP1	62683073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.291000	0.78721	2.850000	0.98022	0.650000	0.86243	CAA		0.338	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		5	30	0	0	0	0.000602	0	5	30				
JAK1	3716	broad.mit.edu	37	1	65321352	65321352	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:65321352C>G	ENST00000342505.4	-	11	1736	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	496	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.K496N(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGAAAGTTCTTGAACTGCT	0.502			Mis		ALL																																		uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(1486-1488)AAG>AAC		janus kinase 1							65.0	65.0	65.0					1																	65321352		1958	4146	6104	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65321352C>G	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1488G>C	1.37:g.65321352C>G	ENSP00000343204:p.Lys496Asn					JAK1_uc009wam.1_Missense_Mutation_p.K484N	p.K496N	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	11	1737	-			496			SH2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.1488G>C	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267462	0.80469	.	.	ENSG00000162434	ENST00000342505	T	0.09163	3.01	4.53	4.53	0.55603	SH2 motif (3);	.	.	.	.	T	0.24005	0.0581	M	0.81497	2.545	0.53005	D	0.999966	D	0.76494	0.999	D	0.80764	0.994	T	0.00688	-1.1609	9	0.87932	D	0	-7.3002	11.0204	0.47715	0.0:0.9137:0.0:0.0863	.	496	P23458	JAK1_HUMAN	N	496	ENSP00000343204:K496N	ENSP00000343204:K496N	K	-	3	2	JAK1	65093940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.199000	0.58426	2.519000	0.84933	0.655000	0.94253	AAG		0.502	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		4	20	0	0	0	0.000602	0	4	20				
DNAJC6	9829	broad.mit.edu	37	1	65849892	65849892	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:65849892C>T	ENST00000395325.3	+	6	669	c.512C>T	c.(511-513)tCa>tTa	p.S171L	DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S228L|DNAJC6_ENST00000263441.7_Missense_Mutation_p.S158L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	171	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.S171L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGGGCGGCATCATCAATTCTG	0.403																																							uc001dcd.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)	3						c.(511-513)TCA>TTA		DnaJ (Hsp40) homolog, subfamily C, member 6							229.0	187.0	201.0					1																	65849892		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65849892C>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.512C>T	1.37:g.65849892C>T	ENSP00000378735:p.Ser171Leu					DNAJC6_uc001dcc.1_Missense_Mutation_p.S202L|DNAJC6_uc010opc.1_Missense_Mutation_p.S158L|DNAJC6_uc001dce.1_Missense_Mutation_p.S228L	p.S171L	NM_014787	NP_055602	O75061	AUXI_HUMAN			6	676	+			171			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.512C>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254870	0.95336	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.99176	-5.52;-5.52;-5.52	5.42	5.42	0.78866	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76071	0.987;0.971;0.978	D	0.99278	1.0895	10	0.46703	T	0.11	.	19.4045	0.94643	0.0:1.0:0.0:0.0	.	228;171;158	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	L	158;171;228	ENSP00000263441:S158L;ENSP00000378735:S171L;ENSP00000360108:S228L	ENSP00000263441:S158L	S	+	2	0	DNAJC6	65622480	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	7.285000	0.78660	2.811000	0.96726	0.655000	0.94253	TCA		0.403	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			15	54	0	0	0	0.00245	0	15	54				
ACADM	34	broad.mit.edu	37	1	76216217	76216217	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76216217A>T	ENST00000370841.4	+	10	1368	c.931A>T	c.(931-933)Aag>Tag	p.K311*	ACADM_ENST00000543667.1_Nonsense_Mutation_p.K122*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.K344*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.K315*|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000541113.1_Nonsense_Mutation_p.K275*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	311					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.K311*(2)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AACTTTCGGAAAGCTACTTGT	0.333																																							uc001dgw.3		NA																	2	Substitution - Nonsense(2)		lung(2)	breast(2)|ovary(1)|skin(1)	4						c.(931-933)AAG>TAG		medium-chain acyl-CoA dehydrogenase isoform a							66.0	73.0	71.0					1																	76216217		2203	4300	6503	SO:0001587	stop_gained	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76216217A>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.931A>T	1.37:g.76216217A>T	ENSP00000359878:p.Lys311*					ACADM_uc010ord.1_Nonsense_Mutation_p.K225*|ACADM_uc009wbp.2_Nonsense_Mutation_p.K315*|ACADM_uc009wbr.2_Nonsense_Mutation_p.K344*|ACADM_uc010ore.1_Nonsense_Mutation_p.K275*|ACADM_uc010orf.1_Nonsense_Mutation_p.K122*|ACADM_uc001dgx.3_Nonsense_Mutation_p.K225*|ACADM_uc010org.1_Nonsense_Mutation_p.K181*|ACADM_uc009wbs.1_RNA	p.K311*	NM_000016	NP_000007	P11310	ACADM_HUMAN			10	1361	+			311					Q5T4U4|Q9NYF1	Nonsense_Mutation	SNP	ENST00000370841.4	37	c.931A>T	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	38	7.137811	0.98088	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	.	.	.	5.76	4.57	0.56435	.	0.091438	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3368	0.55071	0.859:0.141:0.0:0.0	.	.	.	.	X	311;344;275;122;315	.	ENSP00000359871:K344X	K	+	1	0	ACADM	75988805	1.000000	0.71417	0.994000	0.49952	0.378000	0.30076	5.815000	0.69215	2.199000	0.70637	0.477000	0.44152	AAG		0.333	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			7	11	0	0	0	0.001984	0	7	11				
MSH4	4438	broad.mit.edu	37	1	76343962	76343962	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76343962T>A	ENST00000263187.3	+	11	1603	c.1499T>A	c.(1498-1500)aTa>aAa	p.I500K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	500					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.I500K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTTCTTGACATAGCAAGAAGA	0.348								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(1498-1500)ATA>AAA	MMR	mutS homolog 4							121.0	117.0	118.0					1																	76343962		2203	4299	6502	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76343962T>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1499T>A	1.37:g.76343962T>A	ENSP00000263187:p.Ile500Lys						p.I500K	NM_002440	NP_002431	O15457	MSH4_HUMAN			11	1540	+			500					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1499T>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926928	0.73327	.	.	ENSG00000057468	ENST00000263187	D	0.88046	-2.33	5.49	5.49	0.81192	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.64997	1.995	0.80722	D	1	B	0.34313	0.448	B	0.43386	0.418	T	0.80441	-0.1381	10	0.02654	T	1	-6.7618	15.5975	0.76599	0.0:0.0:0.0:1.0	.	500	O15457	MSH4_HUMAN	K	500	ENSP00000263187:I500K	ENSP00000263187:I500K	I	+	2	0	MSH4	76116550	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.652000	0.83633	2.082000	0.62665	0.528000	0.53228	ATA		0.348	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		9	14	0	0	0	0.006214	0	9	14				
MSH4	4438	broad.mit.edu	37	1	76349447	76349447	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:76349447T>A	ENST00000263187.3	+	15	2152	c.2048T>A	c.(2047-2049)aTg>aAg	p.M683K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	683					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.M683K(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGACCAAACATGAGTGGAAAA	0.343								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(2047-2049)ATG>AAG	MMR	mutS homolog 4							139.0	139.0	139.0					1																	76349447		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76349447T>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2048T>A	1.37:g.76349447T>A	ENSP00000263187:p.Met683Lys						p.M683K	NM_002440	NP_002431	O15457	MSH4_HUMAN			15	2089	+			683			ATP (Potential).		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2048T>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792197	0.90453	.	.	ENSG00000057468	ENST00000263187	D	0.89485	-2.52	5.98	5.98	0.97165	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	H	0.98754	4.32	0.80722	D	1	P	0.44877	0.845	P	0.58210	0.835	D	0.97489	1.0052	10	0.87932	D	0	-28.2715	16.4706	0.84111	0.0:0.0:0.0:1.0	.	683	O15457	MSH4_HUMAN	K	683	ENSP00000263187:M683K	ENSP00000263187:M683K	M	+	2	0	MSH4	76122035	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.670000	0.83925	2.293000	0.77203	0.491000	0.48974	ATG		0.343	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		9	19	0	0	0	0.008291	0	9	19				
TTLL7	79739	broad.mit.edu	37	1	84399443	84399443	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:84399443C>A	ENST00000260505.8	-	9	1272	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	299	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.V299L(2)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTCTTTACCACCAATTCCTAT	0.443																																							uc001djc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(895-897)GTG>TTG		tubulin tyrosine ligase-like family, member 7							102.0	100.0	101.0					1																	84399443		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84399443C>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.895G>T	1.37:g.84399443C>A	ENSP00000260505:p.Val299Leu					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.V299L	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	9	1291	-			299			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.895G>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	32	5.130737	0.94473	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.05925	3.37	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	L	0.49455	1.56	0.80722	D	1	P	0.38863	0.65	P	0.45610	0.487	T	0.06162	-1.0842	10	0.51188	T	0.08	.	20.3073	0.98634	0.0:1.0:0.0:0.0	.	299	Q6ZT98	TTLL7_HUMAN	L	299;76;299	ENSP00000260505:V299L	ENSP00000260505:V299L	V	-	1	0	TTLL7	84172031	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.461000	0.80834	2.789000	0.95967	0.644000	0.83932	GTG		0.443	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		10	34	1	0	3.07112e-06	0.010729	3.46216e-06	10	34				
COL24A1	255631	broad.mit.edu	37	1	86578265	86578265	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:86578265T>C	ENST00000370571.2	-	5	1950	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G	COL24A1_ENST00000436319.1_Silent_p.G528G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	528	Collagen-like 1.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G528G(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GACCAGGTAATCCAGGTAAAC	0.388																																							uc001dlj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1582-1584)GGA>GGG		collagen, type XXIV, alpha 1 precursor							154.0	143.0	146.0					1																	86578265		1899	4117	6016	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86578265T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1584A>G	1.37:g.86578265T>C						COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.G528G	p.G528G	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	5	1626	-			528			Collagen-like 1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.1584A>G	CCDS41353.1																																																																																				0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		13	39	0	0	0	0.013537	0	13	39				
PKN2	5586	broad.mit.edu	37	1	89294166	89294166	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:89294166A>G	ENST00000370521.3	+	19	2781	c.2422A>G	c.(2422-2424)Atg>Gtg	p.M808V	PKN2_ENST00000370505.3_Missense_Mutation_p.M651V|PKN2_ENST00000370513.5_Missense_Mutation_p.M760V|PKN2_ENST00000544045.1_Missense_Mutation_p.M482V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.M808V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTCCAGGAATGGGATATGG	0.343																																							uc001dmn.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|skin(1)	3						c.(2422-2424)ATG>GTG		protein kinase N2							80.0	71.0	74.0					1																	89294166		1818	4078	5896	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89294166A>G	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2422A>G	1.37:g.89294166A>G	ENSP00000359552:p.Met808Val					PKN2_uc010osp.1_Missense_Mutation_p.M792V|PKN2_uc010osq.1_Missense_Mutation_p.M651V|PKN2_uc009wcv.2_Missense_Mutation_p.M760V|PKN2_uc010osr.1_Missense_Mutation_p.M473V	p.M808V	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	19	2764	+		Lung NSC(277;0.123)	808			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2422A>G	CCDS714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.41|14.41	2.526074|2.526074	0.44969|0.44969	.|.	.|.	ENSG00000065243|ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045;ENST00000544215|ENST00000449189	T;T;T;T|.	0.64438|.	-0.1;-0.1;-0.1;-0.1|.	4.94|4.94	4.94|4.94	0.65067|0.65067	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|.	0.53938|.	U|.	0.000042|.	T|T	0.33352|0.33352	0.0860|0.0860	N|N	0.16098|0.16098	0.37|0.37	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.27229|.	0.172;0.088;0.003|.	B;B;B|.	0.28232|.	0.087;0.023;0.003|.	T|T	0.28618|0.28618	-1.0038|-1.0038	10|5	0.72032|.	D|.	0.01|.	.|.	14.7545|14.7545	0.69552|0.69552	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	792;760;808|.	B4DTP5;E7ESL7;Q16513|.	.;.;PKN2_HUMAN|.	V|S	808;651;760;482;62|15	ENSP00000359552:M808V;ENSP00000359536:M651V;ENSP00000359544:M760V;ENSP00000439643:M482V|.	ENSP00000359536:M651V|.	M|N	+|+	1|2	0|0	PKN2|PKN2	89066754|89066754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	8.761000|8.761000	0.91691|0.91691	2.090000|2.090000	0.63153|0.63153	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.343	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		5	23	0	0	0	0.001168	0	5	23				
ABCA4	24	broad.mit.edu	37	1	94544950	94544950	+	Silent	SNP	C	C	A	rs372704965		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:94544950C>A	ENST00000370225.3	-	9	1253	c.1167G>T	c.(1165-1167)gcG>gcT	p.A389A	ABCA4_ENST00000535735.1_Silent_p.A389A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	389					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.A389A(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGGCTTTGCCGCCCTCCAAG	0.473																																							uc001dqh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(1165-1167)GCG>GCT		ATP-binding cassette, sub-family A member 4							106.0	100.0	102.0					1																	94544950		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94544950C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1167G>T	1.37:g.94544950C>A						ABCA4_uc010otn.1_Silent_p.A389A	p.A389A	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	9	1271	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	389			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.1167G>T	CCDS747.1																																																																																				0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		21	43	1	0	4.96729e-08	0.008871	5.87338e-08	21	43				
ABCA4	24	broad.mit.edu	37	1	94564460	94564460	+	Missense_Mutation	SNP	G	G	A	rs61748538		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:94564460G>A	ENST00000370225.3	-	6	744	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	ABCA4_ENST00000535735.1_Missense_Mutation_p.R220C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	220			R -> C (in STGD1).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.R220C(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTGCCCCGCGTCTCTGGCTG	0.602																																							uc001dqh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	GRCh37	CM015069	ABCA4	M	rs61748538	c.(658-660)CGC>TGC		ATP-binding cassette, sub-family A member 4							67.0	65.0	65.0					1																	94564460		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94564460G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.658C>T	1.37:g.94564460G>A	ENSP00000359245:p.Arg220Cys					ABCA4_uc010otn.1_Missense_Mutation_p.R220C	p.R220C	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	6	762	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	220		R -> C (in STGD1).	Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.658C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313523	0.23908	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91464	-2.74;-2.85	5.83	1.38	0.22167	.	1.297890	0.05550	N	0.567354	D	0.87337	0.6152	M	0.61703	1.905	0.09310	N	0.999999	D;P	0.60160	0.987;0.951	P;B	0.55667	0.781;0.394	T	0.74054	-0.3788	10	0.56958	D	0.05	.	3.5855	0.07969	0.1387:0.1837:0.5096:0.1679	rs61748538	220;220	F5H6E5;P78363	.;ABCA4_HUMAN	C	220	ENSP00000359245:R220C;ENSP00000437682:R220C	ENSP00000359245:R220C	R	-	1	0	ABCA4	94337048	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	0.336000	0.19823	0.794000	0.33899	0.563000	0.77884	CGC		0.602	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		14	64	0	0	0	0.004007	0	14	64				
COL11A1	1301	broad.mit.edu	37	1	103487276	103487276	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:103487276G>C	ENST00000370096.3	-	9	1607	c.1295C>G	c.(1294-1296)gCa>gGa	p.A432G	COL11A1_ENST00000353414.4_Missense_Mutation_p.A393G|COL11A1_ENST00000358392.2_Missense_Mutation_p.A444G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A316G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	432	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A432G(2)|p.A444G(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCAACCACTGCTGGTTCTCC	0.358																																							uc001dul.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1294-1296)GCA>GGA		alpha 1 type XI collagen isoform A							158.0	145.0	150.0					1																	103487276		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103487276G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1295C>G	1.37:g.103487276G>C	ENSP00000359114:p.Ala432Gly					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.A444G|COL11A1_uc001dun.2_Missense_Mutation_p.A393G|COL11A1_uc009weh.2_Missense_Mutation_p.A316G	p.A432G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	9	1613	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	432			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1295C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597859	0.66332	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	N	0.21617	0.685	0.80722	D	1	D;D;D;D	0.67145	0.984;0.99;0.996;0.993	D;D;D;D	0.77557	0.935;0.971;0.99;0.978	D	0.86398	0.1740	10	0.46703	T	0.11	.	18.424	0.90602	0.0:0.0:1.0:0.0	.	316;393;444;432	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	G	432;444;393;316;444	ENSP00000359114:A432G;ENSP00000351163:A444G;ENSP00000302551:A393G;ENSP00000426533:A316G;ENSP00000408640:A444G	ENSP00000302551:A393G	A	-	2	0	COL11A1	103259864	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	8.571000	0.90752	2.351000	0.79841	0.637000	0.83480	GCA		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	27	0	0	0	0.010729	0	11	27				
AMY2B	280	broad.mit.edu	37	1	104114738	104114738	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:104114738C>T	ENST00000361355.4	+	4	791	c.175C>T	c.(175-177)Cca>Tca	p.P59S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	59					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.P59S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTAGGTCTCTCCACCAAATGA	0.318																																							uc001duq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(175-177)CCA>TCA		amylase, pancreatic, alpha-2B precursor							133.0	130.0	131.0					1																	104114738		2203	4298	6501	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104114738C>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.175C>T	1.37:g.104114738C>T	ENSP00000354610:p.Pro59Ser					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.P59S	p.P59S	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	4	791	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	59					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.175C>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877685	0.51801	.	.	ENSG00000240038	ENST00000361355;ENST00000435302;ENST00000453959	D	0.99552	-6.15	4.65	4.65	0.58169	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.050977	0.85682	D	0.000000	D	0.99849	0.9930	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96274	0.9201	10	0.87932	D	0	.	17.5357	0.87830	0.0:1.0:0.0:0.0	.	59	P19961	AMY2B_HUMAN	S	59	ENSP00000354610:P59S	ENSP00000354610:P59S	P	+	1	0	AMY2B	103916261	1.000000	0.71417	0.976000	0.42696	0.244000	0.25665	4.860000	0.62961	2.105000	0.64084	0.460000	0.39030	CCA		0.318	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		10	39	0	0	0	0.008291	0	10	39				
AMY2B	280	broad.mit.edu	37	1	104120405	104120405	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:104120405G>T	ENST00000361355.4	+	11	1900	c.1284G>T	c.(1282-1284)ggG>ggT	p.G428G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	428					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.G428G(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATGATAATGGGAGCAACCAAG	0.348																																							uc001duq.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1282-1284)GGG>GGT		amylase, pancreatic, alpha-2B precursor							109.0	148.0	134.0					1																	104120405		1427	2461	3888	SO:0001819	synonymous_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104120405G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1284G>T	1.37:g.104120405G>T						AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.G428G|AMY2B_uc001dus.1_RNA	p.G428G	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	11	1900	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	428					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	ENST00000361355.4	37	c.1284G>T	CCDS782.1																																																																																				0.348	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		18	69	1	0	1.00905e-13	0.008871	1.30003e-13	18	69				
VAV3	10451	broad.mit.edu	37	1	108307757	108307757	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:108307757C>T	ENST00000370056.4	-	9	1136	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	VAV3_ENST00000371846.4_Missense_Mutation_p.A223T|VAV3_ENST00000527011.1_Missense_Mutation_p.A288T|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	288	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.A288T(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTAGAGATGGCTGACTCCACT	0.358																																							uc001dvk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(2)|breast(2)	9						c.(862-864)GCC>ACC		vav 3 guanine nucleotide exchange factor isoform							87.0	84.0	85.0					1																	108307757		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108307757C>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.862G>A	1.37:g.108307757C>T	ENSP00000359073:p.Ala288Thr					VAV3_uc010ouw.1_Missense_Mutation_p.A288T|VAV3_uc001dvl.1_Missense_Mutation_p.A112T|VAV3_uc010oux.1_Missense_Mutation_p.A288T	p.A288T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	9	916	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	288			DH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.862G>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073847	0.94000	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846	T;T;T	0.69561	-0.41;-0.41;-0.41	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.83741	0.5320	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.975;0.999;0.997;0.997	D	0.86128	0.1573	10	0.87932	D	0	.	19.7133	0.96105	0.0:1.0:0.0:0.0	.	288;288;223;288	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4	.;.;.;VAV3_HUMAN	T	288;288;223	ENSP00000359073:A288T;ENSP00000432540:A288T;ENSP00000360912:A223T	ENSP00000359073:A288T	A	-	1	0	VAV3	108109280	1.000000	0.71417	0.974000	0.42286	0.809000	0.45718	7.354000	0.79424	2.659000	0.90383	0.650000	0.86243	GCC		0.358	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		6	18	0	0	0	0.001984	0	6	18				
ATXN7L2	127002	broad.mit.edu	37	1	110030427	110030427	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:110030427G>A	ENST00000369870.3	+	5	715		c.e5+1			NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2									p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGATGGCTCGTGAGTAGTTG	0.592																																							uc001dxr.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e5+1		ataxin 7-like 2							24.0	25.0	24.0					1																	110030427		2203	4299	6502	SO:0001630	splice_region_variant	127002							g.chr1:110030427G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.700+1G>A	1.37:g.110030427G>A						ATXN7L2_uc001dxs.2_5'Flank	p.R234_splice	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	715	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)							Splice_Site	SNP	ENST00000369870.3	37	c.700_splice	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912714	0.72983	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0222	0.86437	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATXN7L2	109831950	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.512000	0.67030	2.757000	0.94681	0.655000	0.94253	.		0.592	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340	Intron	5	52	0	0	0	0.000602	0	5	52				
AHCYL1	10768	broad.mit.edu	37	1	110551679	110551679	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:110551679G>A	ENST00000369799.5	+	2	511	c.144G>A	c.(142-144)atG>atA	p.M48I	AHCYL1_ENST00000393614.4_Start_Codon_SNP_p.M1I|AHCYL1_ENST00000359172.3_Start_Codon_SNP_p.M1I|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	48					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.M48I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGATGACATGCAGGAGTTCA	0.393																																							uc001dyx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(142-144)ATG>ATA		S-adenosylhomocysteine hydrolase-like 1							135.0	115.0	122.0					1																	110551679		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110551679G>A	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.144G>A	1.37:g.110551679G>A	ENSP00000358814:p.Met48Ile					AHCYL1_uc010ovw.1_Missense_Mutation_p.M1I|AHCYL1_uc001dyy.2_Missense_Mutation_p.M1I|AHCYL1_uc010ovx.1_Missense_Mutation_p.M1I	p.M48I	NM_006621	NP_006612	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	2	511	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	48					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.144G>A	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883021	0.72410	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.75477	1.59;-0.94;-0.94	5.72	5.72	0.89469	.	0.037315	0.85682	D	0.000000	T	0.59702	0.2213	L	0.36672	1.1	0.80722	D	1	B	0.23591	0.088	B	0.20184	0.028	T	0.60561	-0.7239	10	0.87932	D	0	-16.4909	19.8731	0.96858	0.0:0.0:1.0:0.0	.	48	O43865	SAHH2_HUMAN	I	48;1;1	ENSP00000358814:M48I;ENSP00000352092:M1I;ENSP00000377238:M1I	ENSP00000352092:M1I	M	+	3	0	AHCYL1	110353202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.708000	0.68377	2.707000	0.92482	0.650000	0.86243	ATG		0.393	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			9	30	0	0	0	0.004482	0	9	30				
KCNA2	3737	broad.mit.edu	37	1	111147283	111147283	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:111147283C>G	ENST00000485317.1	-	3	795	c.122G>C	c.(121-123)gGg>gCg	p.G41A	KCNA2_ENST00000369770.3_Missense_Mutation_p.G41A|KCNA2_ENST00000316361.4_Missense_Mutation_p.G41A|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G41A			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	41					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G41A(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AAACCGCAGCCCTGAGATGTT	0.572																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(121-123)GGG>GCG		potassium voltage-gated channel, shaker-related							118.0	121.0	120.0					1																	111147283		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147283C>G	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.122G>C	1.37:g.111147283C>G	ENSP00000433109:p.Gly41Ala					KCNA2_uc009wfv.1_Missense_Mutation_p.G41A|KCNA2_uc009wfw.2_Missense_Mutation_p.G41A	p.G41A	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	618	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	41					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.122G>C	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728244	0.69074	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73	5.75	5.75	0.90469	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.99000	1.0811	10	0.87932	D	0	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	41;41	Q86XG6;P16389	.;KCNA2_HUMAN	A	41	ENSP00000358785:G41A;ENSP00000433109:G41A;ENSP00000415257:G41A;ENSP00000314520:G41A	ENSP00000314520:G41A	G	-	2	0	KCNA2	110948806	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.770000	0.85390	2.716000	0.92895	0.655000	0.94253	GGG		0.572	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		52	176	0	0	0	0.01441	0	52	176				
ADORA3	140	broad.mit.edu	37	1	112031646	112031646	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:112031646T>G	ENST00000369716.4	-	3	591	c.458A>C	c.(457-459)gAt>gCt	p.D153A	RNU6-792P_ENST00000363490.1_RNA|ADORA3_ENST00000369717.4_Splice_Site_p.D72A	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	278					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.D72A(2)|p.D153A(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GACCATGGCATCTGTGAAAac	0.463																																							uc001ebf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|large_intestine(1)|skin(1)	4						c.(457-459)GAT>GCT		adenosine A3 receptor isoform 1	Adenosine(DB00640)|Aminophylline(DB01223)						127.0	119.0	122.0					1																	112031646		2203	4300	6503	SO:0001630	splice_region_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112031646T>G	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.458-1A>C	1.37:g.112031646T>G						ADORA3_uc001ebg.3_Missense_Mutation_p.D72A	p.D153A	NM_020683	NP_065734	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	3	1225	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000369716.4	37	c.458A>C	CCDS838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.06|18.06	3.538391|3.538391	0.65085|0.65085	.|.	.|.	ENSG00000121933|ENSG00000121933	ENST00000369717;ENST00000369716|ENST00000414219	T;T|.	0.54675|.	2.31;0.56|.	4.8|4.8	2.43|2.43	0.29744|0.29744	.|.	0.396919|.	0.21517|.	N|.	0.073300|.	T|T	0.15955|0.15955	0.0384|0.0384	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.46784|.	0.884;0.419|.	B;B|.	0.40940|.	0.344;0.118|.	T|T	0.20338|0.20338	-1.0278|-1.0278	10|5	0.31617|.	T|.	0.26|.	.|.	5.5909|5.5909	0.17301|0.17301	0.0:0.2347:0.0:0.7653|0.0:0.2347:0.0:0.7653	.|.	72;153|.	Q5QNY7;P33765-2|.	.;.|.	A|L	72;153|13	ENSP00000358731:D72A;ENSP00000358730:D153A|.	ENSP00000358730:D153A|.	D|M	-|-	2|1	0|0	ADORA3|ADORA3	111833169|111833169	0.987000|0.987000	0.35691|0.35691	0.009000|0.009000	0.14445|0.14445	0.622000|0.622000	0.37654|0.37654	1.095000|1.095000	0.30964|0.30964	0.767000|0.767000	0.33267|0.33267	0.379000|0.379000	0.24179|0.24179	GAT|ATG		0.463	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683	Missense_Mutation	8	26	0	0	0	0.00308	0	8	26				
PTGFRN	5738	broad.mit.edu	37	1	117491979	117491979	+	Missense_Mutation	SNP	G	G	T	rs149030409		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:117491979G>T	ENST00000393203.2	+	4	1145	c.998G>T	c.(997-999)cGg>cTg	p.R333L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	333	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R333L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGTTGGCGCGGCTTGACCGT	0.577																																							uc001egv.1		NA																	2	Substitution - Missense(2)		lung(2)	liver(1)	1						c.(997-999)CGG>CTG		prostaglandin F2 receptor negative regulator							108.0	89.0	96.0					1																	117491979		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117491979G>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.998G>T	1.37:g.117491979G>T	ENSP00000376899:p.Arg333Leu						p.R333L	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	4	1135	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	333			Ig-like C2-type 3.|Extracellular (Potential).		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.998G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047231	0.55110	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.66099	-0.19	5.57	2.73	0.32206	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.218149	0.47455	D	0.000239	T	0.25644	0.0624	L	0.27053	0.805	0.09310	N	1	P	0.41546	0.754	B	0.43754	0.43	T	0.28235	-1.0050	10	0.12103	T	0.63	-18.4904	7.5704	0.27904	0.2634:0.0:0.7366:0.0	.	333	Q9P2B2	FPRP_HUMAN	L	333;192	ENSP00000376899:R333L	ENSP00000376899:R333L	R	+	2	0	PTGFRN	117293502	0.721000	0.28007	0.257000	0.24404	0.846000	0.48090	2.974000	0.49272	0.324000	0.23333	0.561000	0.74099	CGG		0.577	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		20	59	1	0	5.03518e-11	0.007413	6.27023e-11	20	59				
CD101	9398	broad.mit.edu	37	1	117552698	117552698	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:117552698A>T	ENST00000256652.4	+	2	328	c.270A>T	c.(268-270)cgA>cgT	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	90	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R90R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGGTGCGAAGCGGAGACG	0.532																																							uc010oxb.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(268-270)CGA>CGT		immunoglobulin superfamily, member 2 precursor							95.0	85.0	88.0					1																	117552698		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552698A>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.270A>T	1.37:g.117552698A>T						CD101_uc009whd.2_Silent_p.R90R|CD101_uc010oxc.1_Silent_p.R90R|CD101_uc010oxd.1_Silent_p.R90R	p.R90R	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			2	328	+			90			Extracellular (Potential).|Ig-like C2-type 1.		Q15856	Silent	SNP	ENST00000256652.4	37	c.270A>T	CCDS891.1																																																																																				0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		6	43	0	0	0	0.001984	0	6	43				
PDE4DIP	9659	broad.mit.edu	37	1	144923746	144923746	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:144923746C>T	ENST00000369354.3	-	6	901	c.712G>A	c.(712-714)Gat>Aat	p.D238N	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D25N|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D401N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D375N|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.D401N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D238N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D304N|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D238N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D375N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	238					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)	p.D238N(2)|p.D401N(1)		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)		AAGTGGGAATCAGATACAGAC	0.438			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(712-714)GAT>AAT		phosphodiesterase 4D interacting protein isoform							350.0	313.0	325.0					1																	144923746		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144923746C>T	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.712G>A	1.37:g.144923746C>T	ENSP00000358360:p.Asp238Asn					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.D304N|PDE4DIP_uc001emc.1_Missense_Mutation_p.D238N|PDE4DIP_uc001emd.1_Missense_Mutation_p.D238N|PDE4DIP_uc001emb.1_Missense_Mutation_p.D401N|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.D25N	p.D238N	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	6	1003	-			238			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.712G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615170	0.66672	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.11930	4.74;4.83;4.83;4.83;4.83;3.82;3.83;2.73;2.74;2.73	5.93	5.01	0.66863	.	.	.	.	.	T	0.07954	0.0199	M	0.66939	2.045	0.80722	D	1	B;B;B;B;B	0.30709	0.11;0.003;0.056;0.291;0.074	B;B;B;B;B	0.32289	0.05;0.004;0.042;0.143;0.07	T	0.07558	-1.0766	9	0.21540	T	0.41	.	12.7787	0.57464	0.0:0.9209:0.0:0.0791	.	401;238;401;304;238	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	N	304;238;238;401;375;375;238;238;401;401;25	ENSP00000327209:D304N;ENSP00000358360:D238N;ENSP00000358363:D238N;ENSP00000435654:D375N;ENSP00000358366:D375N;ENSP00000358357:D238N;ENSP00000358355:D238N;ENSP00000316434:D401N;ENSP00000433392:D401N;ENSP00000436791:D25N	ENSP00000327209:D304N	D	-	1	0	PDE4DIP	143635103	0.902000	0.30710	0.977000	0.42913	0.932000	0.56968	0.613000	0.24299	1.499000	0.48617	0.655000	0.94253	GAT		0.438	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	151	0	0	0	0.006214	0	10	151				
GJA5	2702	broad.mit.edu	37	1	147230857	147230857	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:147230857C>G	ENST00000271348.2	-	2	651	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	GJA5_ENST00000369237.1_Missense_Mutation_p.E164Q|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	164					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.E164Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAGCCCACCTCCATGGTGGTG	0.577																																							uc001eps.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)GAG>CAG		connexin 40							97.0	90.0	92.0					1																	147230857		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230857C>G		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.490G>C	1.37:g.147230857C>G	ENSP00000271348:p.Glu164Gln					GJA5_uc001ept.1_Missense_Mutation_p.E164Q	p.E164Q	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	631	-	all_hematologic(923;0.0276)		164			Cytoplasmic (Potential).		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.490G>C	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958451	0.92726	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97850	-4.57;-4.57;-4.57	5.68	5.68	0.88126	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99143	1.0856	10	0.87932	D	0	.	19.798	0.96494	0.0:1.0:0.0:0.0	.	164	P36382	CXA5_HUMAN	Q	164	ENSP00000271348:E164Q;ENSP00000358240:E164Q;ENSP00000407645:E164Q	ENSP00000271348:E164Q	E	-	1	0	GJA5	145697481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.677000	0.91161	0.563000	0.77884	GAG		0.577	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		19	144	0	0	0	0.006122	0	19	144				
FCGR1A	2209	broad.mit.edu	37	1	149762804	149762804	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:149762804C>G	ENST00000369168.4	+	6	910	c.856C>G	c.(856-858)Cca>Gca	p.P286A	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	286					antibody-dependent cellular cytotoxicity (GO:0001788)|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)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCAGTTACCAACTCCTGT	0.423																																							uc001esp.3		NA																	0				ovary(1)	1						c.(856-858)CCA>GCA		Fc fragment of IgG, high affinity Ia, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						20.0	20.0	20.0					1																	149762804		1296	2918	4214	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149762804C>G	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.856C>G	1.37:g.149762804C>G	ENSP00000358165:p.Pro286Ala					HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA	p.P286A	NM_000566	NP_000557	P12314	FCGR1_HUMAN			6	906	+	Breast(34;0.0124)|all_hematologic(923;0.127)		286			Extracellular (Potential).		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.856C>G	CCDS933.1	.	.	.	.	.	.	.	.	.	.	C	3.189	-0.166265	0.06461	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.02631	4.52;4.22	4.13	2.14	0.27477	.	.	.	.	.	T	0.00754	0.0025	L	0.29908	0.895	0.45005	D	0.998027	B	0.27450	0.179	B	0.27170	0.077	T	0.51309	-0.8722	9	0.21014	T	0.42	.	4.8143	0.13358	0.2122:0.6668:0.0:0.121	.	286	P12314	FCGR1_HUMAN	A	194;286	ENSP00000394279:P194A;ENSP00000358165:P286A	ENSP00000358165:P286A	P	+	1	0	FCGR1A	148029428	0.000000	0.05858	0.221000	0.23827	0.305000	0.27757	-0.691000	0.05133	0.410000	0.25675	0.543000	0.68304	CCA		0.423	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		9	95	0	0	0	0.006214	0	9	95				
HIST2H2AC	8338	broad.mit.edu	37	1	149858701	149858701	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:149858701G>C	ENST00000331380.2	+	1	177	c.177G>C	c.(175-177)ctG>ctC	p.L59L	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L59L(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCGAGTACCTGACCGCCGAGA	0.687																																							uc001etd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(175-177)CTG>CTC		histone cluster 2, H2ac							43.0	48.0	46.0					1																	149858701		2203	4300	6503	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858701G>C	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.177G>C	1.37:g.149858701G>C						HIST2H2BE_uc001etc.2_5'Flank	p.L59L	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	177	+	Breast(34;0.0124)|all_hematologic(923;0.127)		59					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.177G>C	CCDS937.1																																																																																				0.687	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		9	142	0	0	0	0.008291	0	9	142				
SV2A	9900	broad.mit.edu	37	1	149882451	149882451	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:149882451G>A	ENST00000369146.3	-	4	1372	c.882C>T	c.(880-882)agC>agT	p.S294S	SV2A_ENST00000369145.1_Silent_p.S294S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	294					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.S294S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGCAGAGCCAGCTCAAATGCT	0.542																																							uc001etg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(1)	7						c.(880-882)AGC>AGT		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						64.0	61.0	62.0					1																	149882451		2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149882451G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.882C>T	1.37:g.149882451G>A						SV2A_uc001eth.2_Silent_p.S294S	p.S294S	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		4	1373	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		294			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.882C>T	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			11	62	0	0	0	0.008291	0	11	62				
RPRD2	23248	broad.mit.edu	37	1	150437062	150437062	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150437062A>G	ENST00000369068.4	+	10	1475	c.1471A>G	c.(1471-1473)Agt>Ggt	p.S491G	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.S465G|RPRD2_ENST00000539519.1_Missense_Mutation_p.S465G	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	491	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.S491G(4)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACCTCACCAGTGGCCTGAA	0.527											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc009wlr.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1471-1473)AGT>GGT		Regulation of nuclear pre-mRNA domain containing							69.0	87.0	81.0					1																	150437062		2060	4189	6249	SO:0001583	missense	23248						protein binding	g.chr1:150437062A>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1471A>G	1.37:g.150437062A>G	ENSP00000358064:p.Ser491Gly		OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1732	RPRD2_uc010pcc.1_Missense_Mutation_p.S465G|RPRD2_uc001eup.3_Missense_Mutation_p.S465G	p.S491G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			10	1672	+			491			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1471A>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529766	0.45073	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.50813	0.75;0.74;0.73	5.34	2.97	0.34412	.	0.381550	0.28583	N	0.014826	T	0.22085	0.0532	L	0.59436	1.845	0.32049	N	0.597151	B;B;B	0.12013	0.002;0.003;0.005	B;B;B	0.09377	0.001;0.002;0.004	T	0.10965	-1.0607	10	0.66056	D	0.02	-4.9747	5.1573	0.15042	0.7227:0.0:0.1451:0.1323	.	465;491;465	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	G	465;465;491	ENSP00000383785:S465G;ENSP00000445482:S465G;ENSP00000358064:S491G	ENSP00000358064:S491G	S	+	1	0	RPRD2	148703686	0.371000	0.25056	0.999000	0.59377	0.981000	0.71138	0.996000	0.29719	1.058000	0.40530	0.533000	0.62120	AGT		0.527	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		8	6	0	0	0	0.00308	0	8	6				
TARS2	80222	broad.mit.edu	37	1	150463952	150463952	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150463952G>A	ENST00000369064.3	+	5	629	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TARS2_ENST00000606933.1_Missense_Mutation_p.E199K|TARS2_ENST00000369054.2_Missense_Mutation_p.E199K|TARS2_ENST00000438568.2_Missense_Mutation_p.R157K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	199					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.E199K(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGAGGCTAGAGGCTTCACG	0.532																																							uc001euq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(595-597)GAG>AAG		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						94.0	94.0	94.0					1																	150463952		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150463952G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.595G>A	1.37:g.150463952G>A	ENSP00000358060:p.Glu199Lys					TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.E199K|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.E199K	p.E199K	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	602	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		199					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.595G>A	CCDS952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.62|13.62	2.291757|2.291757	0.40594|0.40594	.|.	.|.	ENSG00000143374|ENSG00000143374	ENST00000369054;ENST00000369064|ENST00000438568	T;T|.	0.14266|.	2.52;2.52|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.265230|.	0.35436|.	N|.	0.003203|.	T|T	0.63141|0.63141	0.2486|0.2486	M|M	0.86343|0.86343	2.81|2.81	0.26041|0.26041	N|N	0.981605|0.981605	P;B|.	0.46912|.	0.886;0.005|.	B;B|.	0.42738|.	0.396;0.005|.	T|T	0.59553|0.59553	-0.7433|-0.7433	10|5	0.05833|.	T|.	0.94|.	-18.2804|-18.2804	14.466|14.466	0.67485|0.67485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	199;199|.	Q9H9V2;Q9BW92|.	.;SYTM_HUMAN|.	K|K	199|157	ENSP00000358050:E199K;ENSP00000358060:E199K|.	ENSP00000358050:E199K|.	E|R	+|+	1|2	0|0	TARS2|TARS2	148730576|148730576	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.969000|0.969000	0.65631|0.65631	5.646000|5.646000	0.67916|0.67916	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.532	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		18	136	0	0	0	0.010504	0	18	136				
CTSK	1513	broad.mit.edu	37	1	150772099	150772099	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150772099C>T	ENST00000271651.3	-	6	815	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	235					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.L235L(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCCCTCTTCAGGGCTTTCT	0.517																																							uc001evp.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(703-705)CTG>CTA		cathepsin K preproprotein							123.0	120.0	121.0					1																	150772099		2203	4300	6503	SO:0001819	synonymous_variant	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150772099C>T	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.705G>A	1.37:g.150772099C>T						CTSK_uc001evq.1_Silent_p.L146L	p.L235L	NM_000396	NP_000387	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	829	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		235					Q6FHS6	Silent	SNP	ENST00000271651.3	37	c.705G>A	CCDS969.1																																																																																				0.517	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		5	146	0	0	0	0.000602	0	5	146				
SETDB1	9869	broad.mit.edu	37	1	150935522	150935522	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:150935522C>G	ENST00000271640.5	+	19	3554	c.3364C>G	c.(3364-3366)Cag>Gag	p.Q1122E	RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'Flank|SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1122E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1122	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.Q1122E(2)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACTGCTGGTCAGACTTCGGC	0.532																																							uc001evu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3364-3366)CAG>GAG		SET domain, bifurcated 1 isoform 1							85.0	68.0	74.0					1																	150935522		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150935522C>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3364C>G	1.37:g.150935522C>G	ENSP00000271640:p.Gln1122Glu					SETDB1_uc001evv.2_Missense_Mutation_p.Q1122E|SETDB1_uc009wmg.1_Missense_Mutation_p.Q1122E	p.Q1122E	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3554	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1122			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3364C>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851032	0.51270	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.87729	-2.29;-2.29;1.15	5.55	5.55	0.83447	SET domain (3);	0.237929	0.37483	N	0.002064	T	0.64360	0.2591	N	0.08118	0	0.80722	D	1	B;B;B	0.19583	0.037;0.006;0.017	B;B;B	0.25614	0.062;0.006;0.016	T	0.63193	-0.6692	10	0.13853	T	0.58	.	16.6522	0.85219	0.0:1.0:0.0:0.0	.	1122;1122;1122	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	E	1122	ENSP00000271640:Q1122E;ENSP00000357965:Q1122E;ENSP00000432348:Q1122E	ENSP00000271640:Q1122E	Q	+	1	0	SETDB1	149202146	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	2.890000	0.48609	2.634000	0.89283	0.561000	0.74099	CAG		0.532	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			25	34	0	0	0	0.00333	0	25	34				
SNX27	81609	broad.mit.edu	37	1	151641082	151641082	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:151641082G>A	ENST00000458013.2	+	7	1240	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	SNX27_ENST00000368838.1_Missense_Mutation_p.D281N|SNX27_ENST00000368843.3_Missense_Mutation_p.D374N|SNX27_ENST00000482791.1_3'UTR			Q96L92	SNX27_HUMAN	sorting nexin family member 27	374	FERM-like region F2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.D374N(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAATGACAATGACCTTGCTGT	0.363																																					Colon(46;291 966 40145 41237 41888)	Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1120-1122)GAC>AAC		sorting nexin family member 27							79.0	77.0	78.0					1																	151641082		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151641082G>A	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1120G>A	1.37:g.151641082G>A	ENSP00000400333:p.Asp374Asn					SNX27_uc001eyo.2_Missense_Mutation_p.D281N|SNX27_uc001eyp.2_Missense_Mutation_p.D188N	p.D374N	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1136	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		374					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.1120G>A		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769994	0.69992	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.50813	0.73;0.74;0.9	5.1	5.1	0.69264	.	0.159980	0.53938	D	0.000041	T	0.32941	0.0846	L	0.32530	0.975	0.45837	D	0.998705	B;P	0.40875	0.409;0.731	B;P	0.45406	0.098;0.479	T	0.04481	-1.0948	10	0.26408	T	0.33	.	17.2485	0.87035	0.0:0.0:1.0:0.0	.	374;374	Q96L92;Q96L92-3	SNX27_HUMAN;.	N	374;374;281	ENSP00000400333:D374N;ENSP00000357836:D374N;ENSP00000357831:D281N	ENSP00000357831:D281N	D	+	1	0	SNX27	149907706	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.527000	0.73803	2.656000	0.90262	0.305000	0.20034	GAC		0.363	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		8	53	0	0	0	0.004482	0	8	53				
TCHHL1	126637	broad.mit.edu	37	1	152057927	152057927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152057927G>T	ENST00000368806.1	-	3	2295	c.2231C>A	c.(2230-2232)tCa>tAa	p.S744*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	744							calcium ion binding (GO:0005509)	p.S744*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCTCCTCTGATGTTACAGG	0.468																																							uc001ezo.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2230-2232)TCA>TAA		trichohyalin-like 1							147.0	148.0	148.0					1																	152057927		2203	4300	6503	SO:0001587	stop_gained	126637						calcium ion binding	g.chr1:152057927G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2231C>A	1.37:g.152057927G>T	ENSP00000357796:p.Ser744*						p.S744*	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2296	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		744					B2RPK8|Q5VTJ9	Nonsense_Mutation	SNP	ENST00000368806.1	37	c.2231C>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	18.74	3.688990	0.68271	.	.	ENSG00000182898	ENST00000368806	.	.	.	3.99	-6.33	0.01988	.	1.228950	0.06364	N	0.712319	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	3.7467	0.5474	0.00656	0.2487:0.1512:0.3032:0.2969	.	.	.	.	X	744	.	ENSP00000357796:S744X	S	-	2	0	TCHHL1	150324551	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.029000	0.03585	-0.810000	0.04375	-1.618000	0.00794	TCA		0.468	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		23	169	1	0	6.32553e-13	0.004656	8.0638e-13	23	169				
TCHHL1	126637	broad.mit.edu	37	1	152059275	152059275	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152059275T>C	ENST00000368806.1	-	3	947	c.883A>G	c.(883-885)Aga>Gga	p.R295G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	295							calcium ion binding (GO:0005509)	p.R295G(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCTTCTCTTTGTAGGGGT	0.443																																							uc001ezo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(883-885)AGA>GGA		trichohyalin-like 1							232.0	227.0	229.0					1																	152059275		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059275T>C		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.883A>G	1.37:g.152059275T>C	ENSP00000357796:p.Arg295Gly						p.R295G	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	948	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		295					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.883A>G	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	3.893	-0.023532	0.07634	.	.	ENSG00000182898	ENST00000368806	T	0.24350	1.86	5.8	-0.0978	0.13631	.	1.435960	0.05008	N	0.470485	T	0.01695	0.0054	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35126	-0.9801	10	0.20519	T	0.43	0.0147	4.9412	0.13967	0.0:0.4631:0.1452:0.3918	.	295	Q5QJ38	TCHL1_HUMAN	G	295	ENSP00000357796:R295G	ENSP00000357796:R295G	R	-	1	2	TCHHL1	150325899	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.190000	0.17057	-0.257000	0.09459	-0.145000	0.13849	AGA		0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		166	166	0	0	0	0.01441	0	166	166				
TCHH	7062	broad.mit.edu	37	1	152083697	152083697	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152083697C>G	ENST00000368804.1	-	2	1995	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	666	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E666Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGAGCCTCTCTTCCTCCTCC	0.652																																							uc001ezp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1996-1998)GAG>CAG		trichohyalin							49.0	58.0	55.0					1																	152083697		1999	4171	6170	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083697C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1996G>C	1.37:g.152083697C>G	ENSP00000357794:p.Glu666Gln					TCHH_uc009wne.1_Missense_Mutation_p.E666Q	p.E666Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1996	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		666			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1996G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	8.327	0.825611	0.16749	.	.	ENSG00000159450	ENST00000368804	T	0.05139	3.49	3.43	-2.18	0.07037	.	.	.	.	.	T	0.01124	0.0037	N	0.24115	0.695	0.09310	N	1	B	0.21225	0.053	B	0.15052	0.012	T	0.46582	-0.9181	9	0.26408	T	0.33	.	7.014	0.24877	0.0:0.3424:0.5328:0.1248	.	666	Q07283	TRHY_HUMAN	Q	666	ENSP00000357794:E666Q	ENSP00000357794:E666Q	E	-	1	0	TCHH	150350321	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.533000	0.02215	-0.423000	0.07394	0.299000	0.19835	GAG		0.652	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		59	98	0	0	0	0.01441	0	59	98				
HRNR	388697	broad.mit.edu	37	1	152187607	152187607	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152187607G>C	ENST00000368801.2	-	3	6573	c.6498C>G	c.(6496-6498)tcC>tcG	p.S2166S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2166					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACTGACGGGAGCCAGACC	0.632																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6496-6498)TCC>TCG		hornerin							201.0	240.0	227.0					1																	152187607		2197	4277	6474	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187607G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6498C>G	1.37:g.152187607G>C							p.S2166S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6574	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2166			24.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6498C>G	CCDS30859.1																																																																																				0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		22	805	0	0	0	0.004656	0	22	805				
FLG	2312	broad.mit.edu	37	1	152281538	152281538	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152281538G>T	ENST00000368799.1	-	3	5859	c.5824C>A	c.(5824-5826)Cat>Aat	p.H1942N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1942	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1942N(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAAGATGGTTTCTGGAA	0.572									Ichthyosis																														uc001ezu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5824-5826)CAT>AAT		filaggrin							235.0	226.0	229.0					1																	152281538		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281538G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5824C>A	1.37:g.152281538G>T	ENSP00000357789:p.His1942Asn						p.H1942N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5860	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1942			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5824C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	8.069	0.769863	0.15983	.	.	ENSG00000143631	ENST00000368799	T	0.02197	4.4	1.9	0.958	0.19619	.	.	.	.	.	T	0.00875	0.0029	M	0.72118	2.19	0.09310	N	1	B	0.27594	0.182	B	0.23419	0.046	T	0.46652	-0.9176	9	0.18710	T	0.47	-3.0E-4	4.4043	0.11402	0.2048:0.0:0.7952:0.0	.	1942	P20930	FILA_HUMAN	N	1942	ENSP00000357789:H1942N	ENSP00000357789:H1942N	H	-	1	0	FLG	150548162	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.671000	0.25172	0.371000	0.24564	0.586000	0.80456	CAT		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		260	359	1	0	6.0155e-110	0.01441	8.50487e-110	260	359				
FLG	2312	broad.mit.edu	37	1	152285143	152285143	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152285143C>A	ENST00000368799.1	-	3	2254	c.2219G>T	c.(2218-2220)cGa>cTa	p.R740L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R740L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.577									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2218-2220)CGA>CTA		filaggrin							358.0	372.0	367.0					1																	152285143		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285143C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2219G>T	1.37:g.152285143C>A	ENSP00000357789:p.Arg740Leu					uc001ezv.2_5'Flank	p.R740L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2255	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		740			Filaggrin 4.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2219G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.453	0.268604	0.10349	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	4.17	-4.6	0.03390	.	.	.	.	.	T	0.00666	0.0022	L	0.56769	1.78	0.09310	N	1	P	0.39665	0.682	B	0.36464	0.225	T	0.35699	-0.9778	9	0.42905	T	0.14	-6.6813	5.5325	0.16993	0.0:0.2921:0.2422:0.4657	.	740	P20930	FILA_HUMAN	L	740	ENSP00000357789:R740L	ENSP00000357789:R740L	R	-	2	0	FLG	150551767	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.438000	0.01017	-0.959000	0.03618	-3.944000	0.00015	CGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		92	673	1	0	3.28864e-39	0.01441	4.61809e-39	92	673				
KPRP	448834	broad.mit.edu	37	1	152733553	152733553	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:152733553A>T	ENST00000606109.1	+	1	1517	c.1489A>T	c.(1489-1491)Agc>Tgc	p.S497C	KPRP_ENST00000368773.1_Missense_Mutation_p.S497C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	497	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S497C(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTGGCGCAGCCCCAGCCC	0.647																																							uc001fal.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1489-1491)AGC>TGC		keratinocyte proline-rich protein							45.0	51.0	49.0					1																	152733553		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733553A>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1489A>T	1.37:g.152733553A>T	ENSP00000475216:p.Ser497Cys						p.S497C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1547	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		497			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1489A>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.140993	0.37825	.	.	ENSG00000203786	ENST00000368773	T	0.10860	2.83	4.46	-0.736	0.11133	.	0.949804	0.08729	N	0.902358	T	0.01254	0.0041	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48043	-0.9069	10	0.38643	T	0.18	1.4671	0.249	0.00202	0.3678:0.1538:0.1718:0.3065	.	497	Q5T749	KPRP_HUMAN	C	497	ENSP00000357762:S497C	ENSP00000357762:S497C	S	+	1	0	KPRP	151000177	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.109000	0.15417	-0.007000	0.14345	-0.695000	0.03696	AGC		0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		80	60	0	0	0	0.01441	0	80	60				
NUP210L	91181	broad.mit.edu	37	1	154067433	154067433	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:154067433T>G	ENST00000368559.3	-	15	2236	c.2165A>C	c.(2164-2166)cAa>cCa	p.Q722P	NUP210L_ENST00000271854.3_Missense_Mutation_p.Q722P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	722					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.Q722P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCCAGGCATTGGATCCGGTA	0.383																																							uc001fdw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2164-2166)CAA>CCA		nucleoporin 210kDa-like isoform 1							85.0	78.0	80.0					1																	154067433		1859	4098	5957	SO:0001583	missense	91181					integral to membrane		g.chr1:154067433T>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2165A>C	1.37:g.154067433T>G	ENSP00000357547:p.Gln722Pro					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.Q722P	p.Q722P	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2237	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		722					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2165A>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.584854	0.28268	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23147	1.92;1.92	5.63	3.18	0.36537	.	0.318461	0.22804	N	0.055423	T	0.03477	0.0100	N	0.08118	0	0.24677	N	0.993384	B;B	0.25521	0.128;0.064	B;B	0.22152	0.038;0.026	T	0.33548	-0.9864	10	0.33141	T	0.24	-0.4511	4.7734	0.13167	0.6131:0.0:0.0801:0.3068	.	722;722	E7EP56;Q5VU65	.;P210L_HUMAN	P	722	ENSP00000357547:Q722P;ENSP00000271854:Q722P	ENSP00000271854:Q722P	Q	-	2	0	NUP210L	152334057	0.420000	0.25457	1.000000	0.80357	0.923000	0.55619	1.187000	0.32090	0.955000	0.37878	-0.542000	0.04241	CAA		0.383	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		5	30	0	0	0	0.000602	0	5	30				
PYGO2	90780	broad.mit.edu	37	1	154931475	154931475	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:154931475C>T	ENST00000368457.2	-	3	1172	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	PBXIP1_ENST00000368465.1_5'Flank|PBXIP1_ENST00000539880.1_5'Flank|PBXIP1_ENST00000368463.3_5'Flank|PBXIP1_ENST00000368460.3_5'Flank|PYGO2_ENST00000368456.1_Missense_Mutation_p.R297Q|PYGO2_ENST00000483463.1_5'Flank|PBXIP1_ENST00000542459.1_5'Flank|RP11-307C12.12_ENST00000605085.1_RNA	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	334					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACCTCACTCCGACAGGCACC	0.632																																					NSCLC(87;357 1460 1955 21029 23522)	NSCLC(87;357 1460 1955 21029 23522)	uc001fft.2		NA																	0				skin(1)	1						c.(1000-1002)CGG>CAG		pygopus homolog 2							67.0	53.0	58.0					1																	154931475		2203	4300	6503	SO:0001583	missense	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154931475C>T	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.1001G>A	1.37:g.154931475C>T	ENSP00000357442:p.Arg334Gln					PBXIP1_uc001ffr.2_5'Flank|PBXIP1_uc001ffs.2_5'Flank|PBXIP1_uc010pep.1_5'Flank	p.R334Q	NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1207	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		334			PHD-type.		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	ENST00000368457.2	37	c.1001G>A	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791223	0.50102	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.63913	-0.07;-0.07	4.85	4.85	0.62838	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.151988	0.41194	D	0.000935	T	0.32466	0.0830	N	0.05554	-0.025	0.27063	N	0.9635	P	0.48503	0.911	P	0.48654	0.585	T	0.16541	-1.0399	10	0.29301	T	0.29	-11.47	12.7484	0.57293	0.0:0.8345:0.1655:0.0	.	334	Q9BRQ0	PYGO2_HUMAN	Q	334;297	ENSP00000357442:R334Q;ENSP00000357441:R297Q	ENSP00000357441:R297Q	R	-	2	0	PYGO2	153198099	0.994000	0.37717	1.000000	0.80357	0.971000	0.66376	2.647000	0.46639	2.524000	0.85096	0.561000	0.74099	CGG		0.632	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		10	70	0	0	0	0.010729	0	10	70				
SYT11	23208	broad.mit.edu	37	1	155838184	155838184	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:155838184G>C	ENST00000368324.4	+	2	716	c.463G>C	c.(463-465)Gat>Cat	p.D155H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	155					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.D155H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCCAGAGGAGGATGTCATGCT	0.517																																							uc001fmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(463-465)GAT>CAT		synaptotagmin XI							90.0	87.0	88.0					1																	155838184		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838184G>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.463G>C	1.37:g.155838184G>C	ENSP00000357307:p.Asp155His					SYT11_uc010pgq.1_Intron	p.D155H	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	726	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		155			Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.463G>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907396	0.72868	.	.	ENSG00000132718	ENST00000368324	T	0.07688	3.17	5.35	5.35	0.76521	C2 calcium/lipid-binding domain, CaLB (1);	0.280962	0.39475	N	0.001343	T	0.07369	0.0186	L	0.40543	1.245	0.80722	D	1	D	0.55172	0.97	P	0.49708	0.62	T	0.13150	-1.0520	10	0.45353	T	0.12	.	14.4527	0.67397	0.0:0.1471:0.8528:0.0	.	155	Q9BT88	SYT11_HUMAN	H	155	ENSP00000357307:D155H	ENSP00000357307:D155H	D	+	1	0	SYT11	154104808	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.377000	0.97184	2.781000	0.95711	0.655000	0.94253	GAT		0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		27	165	0	0	0	0.003954	0	27	165				
C1orf61	10485	broad.mit.edu	37	1	156384530	156384530	+	Silent	SNP	C	C	G	rs144548564		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156384530C>G	ENST00000368243.1	-	4	203	c.87G>C	c.(85-87)gcG>gcC	p.A29A		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	29						nucleus (GO:0005634)		p.A29A(1)		large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					AGAACCCACCCGCCCCAGGTG	0.532																																							uc001fou.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(85-87)GCG>GCC		transcriptional activator of the c-fos promoter		C		0,4406		0,0,2203	31.0	31.0	31.0		87	1.4	1.0	1	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf61	NM_006365.1		0,1,6502	GG,GC,CC		0.0116,0.0,0.0077		29/157	156384530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10485					nucleus		g.chr1:156384530C>G		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.87G>C	1.37:g.156384530C>G						C1orf61_uc001fov.1_RNA|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_RNA|C1orf61_uc001foy.1_RNA	p.A29A	NM_006365	NP_006356	Q13536	CROC4_HUMAN			4	204	-	Hepatocellular(266;0.158)		29					B1ALL5|B1ALL8	Silent	SNP	ENST00000368243.1	37	c.87G>C	CCDS1142.1	.	.	.	.	.	.	.	.	.	.	C	3.115	-0.181739	0.06340	0.0	1.16E-4	ENSG00000125462	ENST00000368242	.	.	.	3.31	1.35	0.21983	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14008	-1.0488	4	.	.	.	0.0063	4.4659	0.11689	0.0:0.6371:0.2324:0.1305	.	.	.	.	P	61	.	.	R	-	2	0	C1orf61	154651154	0.000000	0.05858	0.976000	0.42696	0.418000	0.31294	-0.082000	0.11304	0.392000	0.25172	0.655000	0.94253	CGG		0.532	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1	NM_006365		5	17	0	0	0	0.000602	0	5	17				
MEF2D	4209	broad.mit.edu	37	1	156437954	156437954	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156437954G>A	ENST00000348159.4	-	11	1865	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	MEF2D_ENST00000368240.2_Missense_Mutation_p.A455V|MEF2D_ENST00000360595.3_Missense_Mutation_p.A455V|MEF2D_ENST00000340875.5_Missense_Mutation_p.A461V|MEF2D_ENST00000353795.3_Missense_Mutation_p.A416V|MEF2D_ENST00000464356.2_Missense_Mutation_p.A454V	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	462					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A462V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGGGCGGGCAGCTGGGAA	0.682																																							uc001fpc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1384-1386)GCC>GTC		myocyte enhancer factor 2D							35.0	42.0	40.0					1																	156437954		2200	4293	6493	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156437954G>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1385C>T	1.37:g.156437954G>A	ENSP00000271555:p.Ala462Val					MEF2D_uc001fpb.2_Missense_Mutation_p.A455V|MEF2D_uc001fpd.2_Missense_Mutation_p.A455V|MEF2D_uc001fpe.1_Missense_Mutation_p.A462V|MEF2D_uc009wsa.2_RNA	p.A462V	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			11	1775	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		462					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.1385C>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876470	0.51801	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.62;0.21;0.21	3.83	3.83	0.44106	.	0.610337	0.16605	N	0.207176	T	0.21103	0.0508	N	0.04508	-0.205	0.36188	D	0.849901	B;B;B	0.27068	0.049;0.112;0.167	B;B;B	0.24394	0.016;0.016;0.053	T	0.13255	-1.0516	10	0.49607	T	0.09	-7.9474	14.4619	0.67456	0.0:0.0:1.0:0.0	.	467;462;455	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	V	462;461;455;416;455;454	ENSP00000271555:A462V;ENSP00000343159:A461V;ENSP00000357223:A455V;ENSP00000344705:A416V;ENSP00000353803:A455V;ENSP00000388505:A454V	ENSP00000343159:A461V	A	-	2	0	MEF2D	154704578	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.165000	0.50778	1.979000	0.57680	0.313000	0.20887	GCC		0.682	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		15	105	0	0	0	0.00245	0	15	105				
TTC24	164118	broad.mit.edu	37	1	156554719	156554719	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156554719G>T	ENST00000368237.3	+	6	1302	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.E434D|TTC24_ENST00000478081.1_3'UTR			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	434								p.E434D(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCAGGCGGAGGGGACCCCAG	0.612																																							uc009wsc.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(460-462)GAG>GAT		tetratricopeptide repeat domain 24							19.0	22.0	21.0					1																	156554719		2044	4198	6242	SO:0001583	missense	164118						binding	g.chr1:156554719G>T		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1302G>T	1.37:g.156554719G>T	ENSP00000357220:p.Glu434Asp						p.E154D	NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN			5	602	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		434					Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.462G>T	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.573|5.573	0.290569|0.290569	0.10567|0.10567	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000368236;ENST00000368237;ENST00000413282|ENST00000340086	T;T|.	0.24538|.	1.85;1.85|.	2.24|2.24	-4.49|-4.49	0.03504|0.03504	.|.	.|.	.|.	.|.	.|.	T|T	0.04770|0.04770	0.0129|0.0129	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.23377|.	0.084|.	B|.	0.23419|.	0.046|.	T|T	0.30621|0.30621	-0.9972|-0.9972	9|5	0.17369|.	T|.	0.5|.	.|.	0.5825|0.5825	0.00714|0.00714	0.3996:0.2175:0.2188:0.1641|0.3996:0.2175:0.2188:0.1641	.|.	434|.	A2A3L6|.	TTC24_HUMAN|.	D|M	434;434;160|207	ENSP00000357219:E434D;ENSP00000357220:E434D|.	ENSP00000357219:E434D|.	E|R	+|+	3|2	2|0	TTC24|TTC24	154821343|154821343	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-3.026000|-3.026000	0.00640|0.00640	-1.642000|-1.642000	0.01521|0.01521	0.561000|0.561000	0.74099|0.74099	GAG|AGG		0.612	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		9	4	1	0	1.76689e-08	0.006214	2.10981e-08	9	4				
BCAN	63827	broad.mit.edu	37	1	156618623	156618623	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156618623C>T	ENST00000329117.5	+	6	1369	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	BCAN_ENST00000361588.5_Missense_Mutation_p.H345Y|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	345	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.H345Y(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAATAAGCACAGCCGCTT	0.577																																							uc001fpp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(1033-1035)CAC>TAC		brevican isoform 1							87.0	88.0	88.0					1																	156618623		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618623C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1033C>T	1.37:g.156618623C>T	ENSP00000331210:p.His345Tyr					BCAN_uc001fpo.2_Missense_Mutation_p.H345Y	p.H345Y	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			6	1369	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		345			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1033C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106692	0.08780	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.07908	3.15;3.15	4.72	3.81	0.43845	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.495938	0.17665	N	0.166168	T	0.02688	0.0081	L	0.33245	0.995	0.31014	N	0.718903	B;B	0.19200	0.034;0.022	B;B	0.19148	0.02;0.024	T	0.35226	-0.9797	10	0.39692	T	0.17	-11.7603	11.8606	0.52463	0.0:0.9136:0.0:0.0864	.	345;345	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Y	286;345;345	ENSP00000331210:H345Y;ENSP00000354925:H345Y	ENSP00000255029:H286Y	H	+	1	0	BCAN	154885247	0.013000	0.17824	1.000000	0.80357	0.986000	0.74619	1.002000	0.29796	1.211000	0.43351	0.462000	0.41574	CAC		0.577	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		111	104	0	0	0	0.01441	0	111	104				
SH2D2A	9047	broad.mit.edu	37	1	156776986	156776986	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156776986A>C	ENST00000368199.3	-	8	1307	c.1154T>G	c.(1153-1155)cTt>cGt	p.L385R	SH2D2A_ENST00000392306.2_Missense_Mutation_p.L395R|SH2D2A_ENST00000368198.3_Missense_Mutation_p.L367R	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	385	Pro-rich.			L -> F (in Ref. 2; AAV34675). {ECO:0000305}.	angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.L385R(2)|p.L395R(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGCCCAAGGGGAAGCCA	0.582																																							uc001fqd.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1153-1155)CTT>CGT		SH2 domain protein 2A isoform 2							92.0	94.0	93.0					1																	156776986		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156776986A>C	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1154T>G	1.37:g.156776986A>C	ENSP00000357182:p.Leu385Arg					SH2D2A_uc001fqc.1_Missense_Mutation_p.L357R|SH2D2A_uc009wsh.2_Missense_Mutation_p.L395R|SH2D2A_uc001fqe.2_Missense_Mutation_p.L367R|SH2D2A_uc010phs.1_Missense_Mutation_p.L385R	p.L385R	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			8	1294	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		385			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1154T>G	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105082	0.37145	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.66815	-0.15;-0.23;0.3	4.59	3.46	0.39613	.	0.696059	0.12053	N	0.503894	T	0.57417	0.2052	L	0.29908	0.895	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.91635	0.999;0.997;0.997	T	0.49360	-0.8948	10	0.66056	D	0.02	-3.08	7.01	0.24857	0.8966:0.0:0.1034:0.0	.	395;367;385	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	R	385;367;395	ENSP00000357182:L385R;ENSP00000357181:L367R;ENSP00000376123:L395R	ENSP00000357181:L367R	L	-	2	0	SH2D2A	155043610	0.396000	0.25262	0.361000	0.25849	0.555000	0.35460	1.698000	0.37794	0.900000	0.36469	0.454000	0.30748	CTT		0.582	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		56	86	0	0	0	0.01441	0	56	86				
SH2D2A	9047	broad.mit.edu	37	1	156776988	156776988	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156776988G>A	ENST00000368199.3	-	8	1305	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	SH2D2A_ENST00000392306.2_Silent_p.P394P|SH2D2A_ENST00000368198.3_Silent_p.P366P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	384	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.P384P(2)|p.P394P(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCCCAAGGGGAAGCCATG	0.592																																							uc001fqd.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(1150-1152)CCC>CCT		SH2 domain protein 2A isoform 2							93.0	94.0	94.0					1																	156776988		2203	4300	6503	SO:0001819	synonymous_variant	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156776988G>A	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1152C>T	1.37:g.156776988G>A						SH2D2A_uc001fqc.1_Silent_p.P356P|SH2D2A_uc009wsh.2_Silent_p.P394P|SH2D2A_uc001fqe.2_Silent_p.P366P|SH2D2A_uc010phs.1_Silent_p.P384P	p.P384P	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			8	1292	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		384			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	c.1152C>T	CCDS1159.1																																																																																				0.592	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		55	87	0	0	0	0.01441	0	55	87				
SH2D2A	9047	broad.mit.edu	37	1	156779566	156779566	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:156779566C>T	ENST00000368199.3	-	6	754	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	SH2D2A_ENST00000392306.2_Missense_Mutation_p.E211K|SH2D2A_ENST00000368198.3_Missense_Mutation_p.E183K	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	201	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.E211K(1)|p.E201K(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTGATTCTTCGGTCCTCAGG	0.582																																							uc001fqd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(601-603)GAA>AAA		SH2 domain protein 2A isoform 2							139.0	131.0	134.0					1																	156779566		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779566C>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.601G>A	1.37:g.156779566C>T	ENSP00000357182:p.Glu201Lys					SH2D2A_uc001fqc.1_Missense_Mutation_p.E173K|SH2D2A_uc009wsh.2_Missense_Mutation_p.E211K|SH2D2A_uc001fqe.2_Missense_Mutation_p.E183K|SH2D2A_uc010phs.1_Missense_Mutation_p.E201K	p.E201K	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			6	741	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		201			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.601G>A	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	5.586	0.292831	0.10567	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.56444	0.47;0.46;0.89	4.13	3.22	0.36961	.	0.707373	0.13804	N	0.361579	T	0.13415	0.0325	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19445	0.025;0.015;0.036	B;B;B	0.14578	0.011;0.005;0.005	T	0.24835	-1.0149	10	0.11794	T	0.64	-8.419	8.1471	0.31119	0.0:0.8869:0.0:0.1131	.	211;183;201	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	K	201;183;211	ENSP00000357182:E201K;ENSP00000357181:E183K;ENSP00000376123:E211K	ENSP00000357181:E183K	E	-	1	0	SH2D2A	155046190	0.415000	0.25416	0.099000	0.21106	0.039000	0.13416	0.771000	0.26633	1.086000	0.41228	-0.263000	0.10527	GAA		0.582	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		41	236	0	0	0	0.009718	0	41	236				
FCRL5	83416	broad.mit.edu	37	1	157491004	157491004	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:157491004C>T	ENST00000361835.3	-	11	2475	c.2318G>A	c.(2317-2319)tGt>tAt	p.C773Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.C773Y|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	773	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.C773Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGGCCTCACAGTGAAGCTC	0.582																																							uc001fqu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2317-2319)TGT>TAT		Fc receptor-like 5							45.0	48.0	47.0					1																	157491004		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157491004C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2318G>A	1.37:g.157491004C>T	ENSP00000354691:p.Cys773Tyr					FCRL5_uc009wsm.2_Missense_Mutation_p.C773Y	p.C773Y	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			11	2476	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	773			Extracellular (Potential).|Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2318G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208895	0.39003	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	D;D	0.94537	-3.45;-3.45	5.34	4.42	0.53409	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.294950	0.02351	N	0.075921	D	0.96787	0.8951	H	0.99697	4.71	0.80722	D	1	B;B	0.17852	0.015;0.024	B;B	0.28465	0.007;0.09	D	0.90234	0.4281	10	0.87932	D	0	.	10.2535	0.43383	0.0:0.9095:0.0:0.0905	.	773;773	A6NJE8;Q96RD9	.;FCRL5_HUMAN	Y	773	ENSP00000354691:C773Y;ENSP00000349434:C773Y	ENSP00000349434:C773Y	C	-	2	0	FCRL5	155757628	0.159000	0.22864	0.990000	0.47175	0.950000	0.60333	1.238000	0.32707	1.452000	0.47756	0.650000	0.86243	TGT		0.582	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		12	86	0	0	0	0.010729	0	12	86				
FCRL4	83417	broad.mit.edu	37	1	157551323	157551323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:157551323G>T	ENST00000271532.1	-	7	1382	c.1247C>A	c.(1246-1248)tCa>tAa	p.S416*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	416					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S416*(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCACAAACCTGACTTCCTCCG	0.592																																							uc001fqw.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(1246-1248)TCA>TAA		Fc receptor-like 4 precursor							77.0	66.0	70.0					1																	157551323		2203	4300	6503	SO:0001587	stop_gained	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551323G>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1247C>A	1.37:g.157551323G>T	ENSP00000271532:p.Ser416*					FCRL4_uc010phy.1_RNA	p.S416*	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			7	1383	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	416			Cytoplasmic (Potential).		Q96PJ3|Q96RE0	Nonsense_Mutation	SNP	ENST00000271532.1	37	c.1247C>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	G	38	6.850508	0.97885	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.63	3.71	0.42584	.	0.247458	0.21112	N	0.079965	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8944	0.35455	0.1032:0.0:0.8968:0.0	.	.	.	.	X	416	.	ENSP00000271532:S416X	S	-	2	0	FCRL4	155817947	0.760000	0.28428	0.854000	0.33618	0.838000	0.47535	0.836000	0.27545	1.138000	0.42230	0.467000	0.42956	TCA		0.592	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		36	31	1	0	1.836e-18	0.003755	2.45703e-18	36	31				
OR10K1	391109	broad.mit.edu	37	1	158435500	158435500	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158435500T>C	ENST00000289451.2	+	1	229	c.149T>C	c.(148-150)gTg>gCg	p.V50A		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCACCATTGTGCTGGACAGA	0.483																																							uc010pij.1		NA																	0				ovary(1)	1						c.(148-150)GTG>GCG		olfactory receptor, family 10, subfamily K,							210.0	177.0	188.0					1																	158435500		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435500T>C	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.149T>C	1.37:g.158435500T>C	ENSP00000289451:p.Val50Ala						p.V50A	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	149	+	all_hematologic(112;0.0378)		50			Cytoplasmic (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.149T>C	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	t	5.331	0.246479	0.10130	.	.	ENSG00000173285	ENST00000289451	T	0.01076	5.37	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.607093	0.13696	N	0.369189	T	0.00328	0.0010	N	0.12663	0.25	0.09310	N	1	P	0.48694	0.914	B	0.40444	0.329	T	0.45906	-0.9229	10	0.16896	T	0.51	.	7.9013	0.29736	0.0:0.0945:0.0:0.9055	.	50	Q8NGX5	O10K1_HUMAN	A	50	ENSP00000289451:V50A	ENSP00000289451:V50A	V	+	2	0	OR10K1	156702124	0.000000	0.05858	0.937000	0.37676	0.735000	0.41995	-0.422000	0.07043	1.911000	0.55334	0.455000	0.32223	GTG		0.483	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			4	142	0	0	0	0.001168	0	4	142				
OR6K3	391114	broad.mit.edu	37	1	158687653	158687653	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158687653G>T	ENST00000368146.1	-	1	300	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	OR6K3_ENST00000368145.1_Missense_Mutation_p.L85I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L101I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCACTGATGAGGTTGGAGAGC	0.453																																							uc010pip.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(301-303)CTC>ATC		olfactory receptor, family 6, subfamily K,							155.0	160.0	158.0					1																	158687653		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687653G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.301C>A	1.37:g.158687653G>T	ENSP00000357128:p.Leu101Ile						p.L101I	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	301	-	all_hematologic(112;0.0378)		101			Extracellular (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.301C>A		.	.	.	.	.	.	.	.	.	.	G	14.08	2.427410	0.43122	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00408	7.54;7.54	3.88	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	L	0.52266	1.64	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63659	-0.6587	9	0.34782	T	0.22	.	15.1179	0.72419	0.0:0.0:1.0:0.0	.	101	Q8NGY3	OR6K3_HUMAN	I	85;101	ENSP00000357127:L85I;ENSP00000357128:L101I	ENSP00000357127:L85I	L	-	1	0	OR6K3	156954277	0.009000	0.17119	0.170000	0.22879	0.943000	0.58893	1.158000	0.31737	2.139000	0.66308	0.404000	0.27445	CTC		0.453	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				16	150	1	0	1.3612e-06	0.003163	1.55873e-06	16	150				
IFI16	3428	broad.mit.edu	37	1	158988421	158988421	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:158988421G>T	ENST00000295809.7	+	5	1207	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	IFI16_ENST00000359709.3_Missense_Mutation_p.G262W|IFI16_ENST00000368131.4_Missense_Mutation_p.G318W|IFI16_ENST00000340979.6_Missense_Mutation_p.G318W|IFI16_ENST00000430894.2_Missense_Mutation_p.G266W|IFI16_ENST00000368132.3_Missense_Mutation_p.G318W|IFI16_ENST00000448393.2_Missense_Mutation_p.G318W			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	318	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.G318W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TATTGTATATGGGGTATTTAT	0.338																																							uc001ftf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)GGG>TGG		interferon, gamma-inducible protein 16							74.0	83.0	80.0					1																	158988421		2203	4299	6502	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988421G>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.952G>T	1.37:g.158988421G>T	ENSP00000295809:p.Gly318Trp					IFI16_uc001ftg.2_Missense_Mutation_p.G318W|IFI16_uc010pis.1_Missense_Mutation_p.G262W	p.G318W	NM_005531	NP_005522	Q16666	IF16_HUMAN			6	1559	+	all_hematologic(112;0.0429)		318			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.952G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.194134|2.194134	0.38707|0.38707	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|.	0.60424|.	0.19;0.19;0.19;0.19;0.19|.	3.09|3.09	3.09|3.09	0.35607|0.35607	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.45756|0.45756	0.1358|0.1358	M|M	0.81682|0.81682	2.555|2.555	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.32508|0.32508	-0.9904|-0.9904	8|5	.|.	.|.	.|.	.|.	9.739|9.739	0.40406|0.40406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	266;318;318|.	E7EPR3;Q16666-2;Q16666|.	.;.;IF16_HUMAN|.	W|I	318;318;318;318;266|138	ENSP00000295809:G318W;ENSP00000342741:G318W;ENSP00000357113:G318W;ENSP00000357114:G318W;ENSP00000394935:G266W|.	.|.	G|M	+|+	1|3	0|0	IFI16|IFI16	157255045|157255045	0.921000|0.921000	0.31238|0.31238	0.040000|0.040000	0.18447|0.18447	0.005000|0.005000	0.04900|0.04900	3.315000|3.315000	0.51951|0.51951	1.702000|1.702000	0.51228|0.51228	0.555000|0.555000	0.69702|0.69702	GGG|ATG		0.338	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		8	68	1	0	5.4927e-09	0.004482	6.63511e-09	8	68				
ATP1A2	477	broad.mit.edu	37	1	160098582	160098582	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160098582C>A	ENST00000361216.3	+	9	1247	c.1158C>A	c.(1156-1158)gtC>gtA	p.V386V	ATP1A2_ENST00000392233.3_Silent_p.V386V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	386					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.V386V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATGACCGTCGCCCACATGT	0.597																																							uc001fvc.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1156-1158)GTC>GTA		Na+/K+ -ATPase alpha 2 subunit proprotein							118.0	94.0	102.0					1																	160098582		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098582C>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1158C>A	1.37:g.160098582C>A						ATP1A2_uc001fvb.2_Silent_p.V386V|ATP1A2_uc010piz.1_Silent_p.V231V|ATP1A2_uc001fvd.2_Silent_p.V122V|ATP1A2_uc009wtg.1_Silent_p.V74V	p.V386V	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1290	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		386			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1158C>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773858	0.16051	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	-7.8	0.01214	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.069	0.36480	0.0:0.2505:0.2604:0.4891	.	.	.	.	X	97	.	.	S	+	2	0	ATP1A2	158365206	0.000000	0.05858	0.104000	0.21259	0.802000	0.45316	-3.850000	0.00351	-1.482000	0.01860	-1.020000	0.02445	TCG		0.597	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		13	88	1	0	0.000219431	0.00245	0.000235836	13	88				
CASQ1	844	broad.mit.edu	37	1	160164856	160164856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160164856G>C	ENST00000368078.3	+	4	716	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	CASQ1_ENST00000368079.3_Missense_Mutation_p.E168Q			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	174					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.E168Q(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGCGTTTGAGAATATTGA	0.493																																							uc010pja.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(520-522)GAG>CAG		calsequestrin 1							153.0	139.0	144.0					1																	160164856		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160164856G>C	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.520G>C	1.37:g.160164856G>C	ENSP00000357057:p.Glu174Gln						p.E174Q	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	777	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		174					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.520G>C	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557911	0.65538	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.79352	-1.26;-1.26	4.24	4.24	0.50183	Thioredoxin-like fold (2);	0.399046	0.27294	N	0.020029	T	0.64994	0.2649	L	0.55990	1.75	0.51012	D	0.999903	P	0.41498	0.752	B	0.37015	0.239	T	0.73244	-0.4044	10	0.56958	D	0.05	.	15.9216	0.79580	0.0:0.0:1.0:0.0	.	174	P31415	CASQ1_HUMAN	Q	168;174;89	ENSP00000357058:E168Q;ENSP00000357057:E174Q	ENSP00000357057:E174Q	E	+	1	0	CASQ1	158431480	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.891000	0.63185	2.349000	0.79799	0.557000	0.71058	GAG		0.493	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		37	18	0	0	0	0.004878	0	37	18				
DCAF8	50717	broad.mit.edu	37	1	160209914	160209914	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:160209914G>C	ENST00000368073.3	-	4	730	c.296C>G	c.(295-297)tCa>tGa	p.S99*	DCAF8_ENST00000610139.1_Nonsense_Mutation_p.S99*|DCAF8_ENST00000475733.1_Nonsense_Mutation_p.S99*|DCAF8_ENST00000368074.1_Nonsense_Mutation_p.S99*|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.S253*|DCAF8_ENST00000608310.1_Nonsense_Mutation_p.S253*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.S99*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	99					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S99*(2)|p.S253*(2)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ctcttcctctGAGCGGTCATG	0.527																																							uc001fvo.2		NA																	4	Substitution - Nonsense(4)		lung(4)	skin(2)	2						c.(295-297)TCA>TGA		DDB1 and CUL4 associated factor 8							66.0	55.0	59.0					1																	160209914		2203	4300	6503	SO:0001587	stop_gained	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160209914G>C	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.296C>G	1.37:g.160209914G>C	ENSP00000357052:p.Ser99*					DCAF8_uc001fvn.2_Nonsense_Mutation_p.S99*|DCAF8_uc009wth.2_Nonsense_Mutation_p.S99*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.S99*|DCAF8_uc010pjc.1_Nonsense_Mutation_p.S253*|DCAF8_uc001fvq.3_Nonsense_Mutation_p.S99*|DCAF8_uc001fvp.3_Nonsense_Mutation_p.S99*|uc010pjd.1_3'UTR	p.S99*	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	608	-			99					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Nonsense_Mutation	SNP	ENST00000368073.3	37	c.296C>G	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038533	0.93630	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710	.	.	.	4.89	3.98	0.46160	.	0.317399	0.20369	U	0.093686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.0817	12.171	0.54160	0.0844:0.0:0.9156:0.0	.	.	.	.	X	99;99;99;253;80;99;99;99;253	.	ENSP00000318227:S99X	S	-	2	0	RP11-574F21.3;DCAF8	158476538	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	5.741000	0.68638	1.061000	0.40601	0.555000	0.69702	TCA		0.527	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		23	27	0	0	0	0.012319	0	23	27				
HSPA6	3310	broad.mit.edu	37	1	161495729	161495729	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:161495729C>A	ENST00000309758.4	+	1	1694	c.1281C>A	c.(1279-1281)acC>acA	p.T427T	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	427					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.T427T(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCAAGCAGACCCAGACTTTCA	0.597																																							uc001gap.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1279-1281)ACC>ACA		heat shock 70kDa protein 6 (HSP70B')							37.0	39.0	38.0					1																	161495729		2203	4297	6500	SO:0001819	synonymous_variant	3310				response to unfolded protein		ATP binding	g.chr1:161495729C>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1281C>A	1.37:g.161495729C>A						HSPA6_uc001gaq.2_Silent_p.T427T	p.T427T	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	1941	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		427					Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	ENST00000309758.4	37	c.1281C>A	CCDS1231.1																																																																																				0.597	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		52	33	1	0	2.17126e-26	0.01441	2.99398e-26	52	33				
HSPA6	3310	broad.mit.edu	37	1	161496369	161496369	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:161496369G>A	ENST00000309758.4	+	1	2334	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	641					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATCATTGAGGAGGTTGATTG	0.582																																							uc001gap.2		NA																	0				skin(1)	1						c.(1921-1923)GAG>AAG		heat shock 70kDa protein 6 (HSP70B')							14.0	16.0	15.0					1																	161496369		2010	4027	6037	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161496369G>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1921G>A	1.37:g.161496369G>A	ENSP00000310219:p.Glu641Lys					HSPA6_uc001gaq.2_Missense_Mutation_p.E641K	p.E641K	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	2581	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		641					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.1921G>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.173824	0.78452	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01359	4.98	3.52	1.59	0.23543	.	0.214085	0.22542	N	0.058708	T	0.02970	0.0088	M	0.80028	2.48	0.39238	D	0.963808	D	0.71674	0.998	D	0.81914	0.995	T	0.37709	-0.9694	10	0.87932	D	0	.	6.0622	0.19844	0.1136:0.1942:0.6922:0.0	.	641	P17066	HSP76_HUMAN	K	641;617	ENSP00000310219:E641K	ENSP00000310219:E641K	E	+	1	0	HSPA6	159762993	1.000000	0.71417	0.390000	0.26220	0.276000	0.26787	4.557000	0.60782	0.178000	0.19917	0.467000	0.42956	GAG		0.582	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		5	50	0	0	0	0.001168	0	5	50				
ADCY10	55811	broad.mit.edu	37	1	167830153	167830153	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:167830153C>G	ENST00000367851.4	-	15	1949	c.1765G>C	c.(1765-1767)Gat>Cat	p.D589H	ADCY10_ENST00000545172.1_Missense_Mutation_p.D436H|ADCY10_ENST00000367848.1_Missense_Mutation_p.D497H	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	589					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.D589H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AACTTTTCATCCAACAGTGTC	0.403																																							uc001ger.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1765-1767)GAT>CAT		adenylate cyclase 10							216.0	200.0	205.0					1																	167830153		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167830153C>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1765G>C	1.37:g.167830153C>G	ENSP00000356825:p.Asp589His					ADCY10_uc009wvk.2_Missense_Mutation_p.D497H|ADCY10_uc010plj.1_Missense_Mutation_p.D436H|ADCY10_uc009wvl.2_Missense_Mutation_p.D588H	p.D589H	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			15	2063	-			589					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1765G>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130036	0.56721	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.34859	1.36;1.34;1.35	5.56	4.65	0.58169	.	0.460717	0.22230	N	0.062825	T	0.42063	0.1186	M	0.67953	2.075	0.33873	D	0.635159	D;D;D	0.76494	0.999;0.997;0.994	D;P;P	0.66497	0.944;0.847;0.707	T	0.46952	-0.9154	9	0.45353	T	0.12	-7.0631	10.448	0.44505	0.0:0.9102:0.0:0.0898	.	436;497;589	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	H	436;589;497	ENSP00000441992:D436H;ENSP00000356825:D589H;ENSP00000356822:D497H	ENSP00000356822:D497H	D	-	1	0	ADCY10	166096777	1.000000	0.71417	0.977000	0.42913	0.551000	0.35334	2.417000	0.44653	1.474000	0.48178	0.563000	0.77884	GAT		0.403	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		12	70	0	0	0	0.001855	0	12	70				
F5	2153	broad.mit.edu	37	1	169528470	169528470	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:169528470C>T	ENST00000367797.3	-	5	852	c.651G>A	c.(649-651)gtG>gtA	p.V217V	F5_ENST00000367796.3_Silent_p.V217V|F5_ENST00000546081.1_Silent_p.V80V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	217	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.V217V(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTTCATCAAACACAGCAAATA	0.463																																							uc001ggg.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(649-651)GTG>GTA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						175.0	134.0	148.0					1																	169528470		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169528470C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.651G>A	1.37:g.169528470C>T						F5_uc010plr.1_RNA	p.V217V	NM_000130	NP_000121	P12259	FA5_HUMAN			5	796	-	all_hematologic(923;0.208)		217			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.651G>A	CCDS1281.1																																																																																				0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		28	26	0	0	0	0.00632	0	28	26				
FMO1	2326	broad.mit.edu	37	1	171250036	171250036	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:171250036C>A	ENST00000354841.4	+	5	870	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	FMO1_ENST00000402921.2_Missense_Mutation_p.L184I|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.L247I	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	247					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.L247I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAGAAATTCCCTCCCAACCCC	0.468																																							uc009wvz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(739-741)CTC>ATC		flavin containing monooxygenase 1							111.0	102.0	105.0					1																	171250036		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171250036C>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.739C>A	1.37:g.171250036C>A	ENSP00000346901:p.Leu247Ile					FMO1_uc010pme.1_Missense_Mutation_p.L184I|FMO1_uc001ghl.2_Missense_Mutation_p.L247I|FMO1_uc001ghm.2_Missense_Mutation_p.L247I|FMO1_uc001ghn.2_Missense_Mutation_p.L247I	p.L247I	NM_002021	NP_002012	Q01740	FMO1_HUMAN			6	875	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		247					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.739C>A	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683596	0.68157	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.63255	-0.03;-0.03;-0.03	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	L	0.59912	1.85	0.50467	D	0.999871	D;P;D	0.69078	0.997;0.744;0.995	D;P;D	0.68353	0.957;0.857;0.957	T	0.67722	-0.5597	10	0.41790	T	0.15	-18.0398	19.3997	0.94623	0.0:1.0:0.0:0.0	.	184;247;247	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	I	247;184;247	ENSP00000356724:L247I;ENSP00000385543:L184I;ENSP00000346901:L247I	ENSP00000346901:L247I	L	+	1	0	FMO1	169516660	0.642000	0.27260	0.797000	0.32132	0.420000	0.31355	1.284000	0.33249	2.871000	0.98454	0.655000	0.94253	CTC		0.468	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		13	52	1	0	9.05144e-12	0.001855	1.14086e-11	13	52				
METTL13	51603	broad.mit.edu	37	1	171756899	171756899	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:171756899G>A	ENST00000361735.3	+	4	1404	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	METTL13_ENST00000458517.1_Missense_Mutation_p.D379N|METTL13_ENST00000367737.5_Missense_Mutation_p.D224N|METTL13_ENST00000362019.3_Missense_Mutation_p.D294N	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	380							methyltransferase activity (GO:0008168)	p.D380N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGTGGGTGGGGACATTGGGGT	0.502																																							uc001ghz.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1138-1140)GAC>AAC		CGI-01 protein isoform 1							53.0	51.0	52.0					1																	171756899		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171756899G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1138G>A	1.37:g.171756899G>A	ENSP00000354920:p.Asp380Asn					METTL13_uc001gia.2_Missense_Mutation_p.D294N|METTL13_uc001gib.2_Missense_Mutation_p.D224N|METTL13_uc010pml.1_Missense_Mutation_p.D379N	p.D380N	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			4	1485	+			380					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1138G>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207483	0.95033	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.71	5.71	0.89125	.	0.046923	0.85682	D	0.000000	T	0.50582	0.1624	L	0.59912	1.85	0.80722	D	1	B;D;D	0.57571	0.326;0.98;0.98	B;P;P	0.54460	0.105;0.753;0.553	T	0.35025	-0.9805	10	0.31617	T	0.26	-31.7349	19.4378	0.94804	0.0:0.0:1.0:0.0	.	379;224;380	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	N	379;294;224;380	ENSP00000401955:D379N;ENSP00000355393:D294N;ENSP00000356711:D224N;ENSP00000354920:D380N	ENSP00000354920:D380N	D	+	1	0	METTL13	170023522	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.638000	0.83328	2.688000	0.91661	0.655000	0.94253	GAC		0.502	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		5	43	0	0	0	0.001984	0	5	43				
SLC9C2	284525	broad.mit.edu	37	1	173567171	173567171	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:173567171C>A	ENST00000367714.3	-	4	651	c.229G>T	c.(229-231)Gtg>Ttg	p.V77L	SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	77					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.V77L(1)									ATTTGGTGCACCTAAAGTAAC	0.299																																							uc001giz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(229-231)GTG>TTG		solute carrier family 9, member 11							62.0	63.0	62.0					1																	173567171		2203	4294	6497	SO:0001630	splice_region_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173567171C>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.229-1G>T	1.37:g.173567171C>A						SLC9A11_uc010pmq.1_RNA	p.V77L	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			4	652	-			77					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.229G>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039348	0.55003	.	.	ENSG00000162753	ENST00000367714	T	0.15017	2.46	5.51	1.1	0.20463	Cation/H+ exchanger (1);	0.446625	0.18730	N	0.132767	T	0.05593	0.0147	L	0.44542	1.39	0.80722	D	1	B	0.30870	0.298	B	0.38428	0.273	T	0.18209	-1.0344	10	0.10636	T	0.68	-6.2097	8.0724	0.30697	0.0:0.618:0.0:0.382	.	77	Q5TAH2	S9A11_HUMAN	L	77	ENSP00000356687:V77L	ENSP00000356687:V77L	V	-	1	0	SLC9A11	171833794	0.825000	0.29262	0.997000	0.53966	0.982000	0.71751	-0.148000	0.10219	0.220000	0.20860	0.543000	0.68304	GTG		0.299	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	Missense_Mutation	4	18	1	0	0.00024832	0.009096	0.000265313	4	18				
KLHL20	27252	broad.mit.edu	37	1	173703396	173703396	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:173703396G>C	ENST00000209884.4	+	3	704	c.568G>C	c.(568-570)Gac>Cac	p.D190H	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	190	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)	p.D190H(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AAGGATAGCAGACAAGTTCAC	0.428																																					GBM(159;862 2695 6559 23041)	GBM(159;862 2695 6559 23041)	uc001gjc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(568-570)GAC>CAC		kelch-like 20							78.0	81.0	80.0					1																	173703396		2203	4299	6502	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.chr1:173703396G>C	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.568G>C	1.37:g.173703396G>C	ENSP00000209884:p.Asp190His					KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.D172H|KLHL20_uc001gjd.2_Missense_Mutation_p.D190H	p.D190H	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			3	747	+			190			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.568G>C	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740009	0.30865	.	.	ENSG00000076321	ENST00000209884	T	0.69306	-0.39	5.37	5.37	0.77165	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	L	0.48174	1.505	0.80722	D	1	P;B	0.46784	0.884;0.347	P;B	0.44946	0.465;0.259	T	0.56643	-0.7945	9	.	.	.	.	17.9386	0.89020	0.0:0.0:1.0:0.0	.	190;190	Q9BS75;Q9Y2M5	.;KLH20_HUMAN	H	190	ENSP00000209884:D190H	.	D	+	1	0	KLHL20	171970019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.574000	0.74014	2.514000	0.84764	0.644000	0.83932	GAC		0.428	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		16	21	0	0	0	0.003163	0	16	21				
RFWD2	64326	broad.mit.edu	37	1	175957454	175957454	+	Silent	SNP	G	G	A	rs142920790	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:175957454G>A	ENST00000367669.3	-	17	2456	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	RFWD2_ENST00000308769.8_Silent_p.L624L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	648					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.L648L(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGGAAGCCAGGCCTACAAAG	0.398													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19184	0.0		0.002	False		,,,				2504	0.0				Ovarian(134;1413 1765 5706 35534 51541)	Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1942-1944)CTG>TTG		ring finger and WD repeat domain 2 isoform a		G	,	1,4405	2.1+/-5.4	0,1,2202	103.0	90.0	94.0		1870,1942	4.0	1.0	1	dbSNP_134	94	18,8582	12.6+/-44.7	0,18,4282	no	coding-synonymous,coding-synonymous	RFWD2	NM_001001740.2,NM_022457.5	,	0,19,6484	AA,AG,GG		0.2093,0.0227,0.1461	,	624/708,648/732	175957454	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175957454G>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1942C>T	1.37:g.175957454G>A						RFWD2_uc001gkv.1_Silent_p.L624L|RFWD2_uc001gkw.1_Silent_p.L408L|RFWD2_uc009wwv.2_Silent_p.L447L|RFWD2_uc001gkt.1_Silent_p.L487L	p.L648L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			17	2198	-			648			WD 6.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1942C>T	CCDS30944.1																																																																																				0.398	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		15	20	0	0	0	0.003163	0	15	20				
ASTN1	460	broad.mit.edu	37	1	176838157	176838157	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:176838157G>T	ENST00000367654.3	-	22	3705	c.3494C>A	c.(3493-3495)gCa>gAa	p.A1165E	ASTN1_ENST00000361833.2_Missense_Mutation_p.A1157E|ASTN1_ENST00000424564.2_Missense_Mutation_p.A1157E|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1157E	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1165					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.A1157E(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATCTTGTCTGCTATTTCTGA	0.383																																							uc001glc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3469-3471)GCA>GAA		astrotactin isoform 1							124.0	109.0	114.0					1																	176838157		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838157G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3494C>A	1.37:g.176838157G>T	ENSP00000356626:p.Ala1165Glu					ASTN1_uc001glb.1_Missense_Mutation_p.A1157E|ASTN1_uc001gld.1_Missense_Mutation_p.A1157E	p.A1157E	NM_004319	NP_004310	O14525	ASTN1_HUMAN			22	3682	-			1165					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3470C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.151347	0.94645	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.26660	1.72;2.13;2.13;1.73	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.47749	-0.9093	10	0.87932	D	0	-17.2787	19.4429	0.94831	0.0:0.0:1.0:0.0	.	1157;1157	O14525-2;B1AJS1	.;.	E	1157;1157;1165;1157;1157	ENSP00000356629:A1157E;ENSP00000354536:A1157E;ENSP00000356626:A1165E;ENSP00000395041:A1157E	ENSP00000354536:A1157E	A	-	2	0	ASTN1	175104780	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.689000	0.98673	2.698000	0.92095	0.655000	0.94253	GCA		0.383	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		21	11	1	0	7.45023e-12	0.010504	9.41491e-12	21	11				
ASTN1	460	broad.mit.edu	37	1	176915180	176915180	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:176915180C>T	ENST00000367654.3	-	13	2366	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	ASTN1_ENST00000361833.2_Missense_Mutation_p.D711N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D711N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D711N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	719					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D711N(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCCACAGTCACTTCCCTCT	0.532																																							uc001glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2131-2133)GAC>AAC		astrotactin isoform 1							115.0	105.0	108.0					1																	176915180		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915180C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2155G>A	1.37:g.176915180C>T	ENSP00000356626:p.Asp719Asn					ASTN1_uc001glb.1_Missense_Mutation_p.D711N|ASTN1_uc001gld.1_Missense_Mutation_p.D711N|ASTN1_uc009wwx.1_Missense_Mutation_p.D711N	p.D711N	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2343	-			719					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2131G>A		.	.	.	.	.	.	.	.	.	.	C	18.52	3.641305	0.67244	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15139	2.45;2.87;2.87;2.45	5.25	5.25	0.73442	.	0.092502	0.64402	D	0.000001	T	0.09905	0.0243	N	0.14661	0.345	0.58432	D	0.999991	B;B;B	0.33238	0.039;0.403;0.403	B;B;B	0.31337	0.05;0.128;0.128	T	0.25813	-1.0121	10	0.12103	T	0.63	-33.5829	14.1238	0.65208	0.0:0.8496:0.1504:0.0	.	719;711;711	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	711;711;719;711;711	ENSP00000356629:D711N;ENSP00000354536:D711N;ENSP00000356626:D719N;ENSP00000395041:D711N	ENSP00000354536:D711N	D	-	1	0	ASTN1	175181803	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.368000	0.59505	2.467000	0.83353	0.655000	0.94253	GAC		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		11	61	0	0	0	0.008291	0	11	61				
ABL2	27	broad.mit.edu	37	1	179077723	179077723	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:179077723C>G	ENST00000502732.1	-	12	2882	c.2679G>C	c.(2677-2679)aaG>aaC	p.K893N	ABL2_ENST00000504405.1_Missense_Mutation_p.K754N|ABL2_ENST00000367623.4_Missense_Mutation_p.K872N|ABL2_ENST00000507173.1_Missense_Mutation_p.K769N|ABL2_ENST00000511413.1_Missense_Mutation_p.K790N|ABL2_ENST00000512653.1_Missense_Mutation_p.K878N|ABL2_ENST00000408940.3_Missense_Mutation_p.K857N|ABL2_ENST00000344730.3_Missense_Mutation_p.K775N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	893	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.K857N(2)|p.K893N(2)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCCCACCATTCTTCTCTTTAC	0.617			T	ETV6	AML																																		uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		4	Substitution - Missense(4)		lung(4)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(2677-2679)AAG>AAC		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						41.0	44.0	43.0					1																	179077723		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077723C>G	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2679G>C	1.37:g.179077723C>G	ENSP00000427562:p.Lys893Asn					ABL2_uc010pnf.1_Missense_Mutation_p.K790N|ABL2_uc010png.1_Missense_Mutation_p.K769N|ABL2_uc010pnh.1_Missense_Mutation_p.K872N|ABL2_uc001gmg.3_Missense_Mutation_p.K775N|ABL2_uc001gmi.3_Missense_Mutation_p.K878N|ABL2_uc001gmh.3_Missense_Mutation_p.K857N|ABL2_uc010pne.1_Missense_Mutation_p.K754N	p.K893N	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	2966	-			893			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.2679G>C	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	7.890	0.732095	0.15507	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.75260	-0.9;-0.9;-0.92;-0.9;-0.92;-0.9;-0.92;-0.92	5.1	5.1	0.69264	.	0.369924	0.22594	U	0.058045	T	0.57932	0.2087	N	0.22421	0.69	0.25286	N	0.989392	B;B;B;B;B;B;B;B	0.28713	0.119;0.007;0.007;0.039;0.072;0.119;0.22;0.039	B;B;B;B;B;B;B;B	0.29267	0.054;0.021;0.021;0.07;0.024;0.1;0.042;0.057	T	0.47598	-0.9105	10	0.30854	T	0.27	.	7.7795	0.29056	0.0:0.8198:0.0:0.1801	.	872;769;790;754;893;878;857;775	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	N	893;857;775;878;754;872;769;790	ENSP00000427562:K893N;ENSP00000386152:K857N;ENSP00000339209:K775N;ENSP00000423578:K878N;ENSP00000426831:K754N;ENSP00000356595:K872N;ENSP00000423413:K769N;ENSP00000424697:K790N	ENSP00000339209:K775N	K	-	3	2	ABL2	177344346	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	0.640000	0.24705	2.517000	0.84864	0.655000	0.94253	AAG		0.617	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		35	47	0	0	0	0.013726	0	35	47				
HMCN1	83872	broad.mit.edu	37	1	186014906	186014906	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:186014906C>T	ENST00000271588.4	+	41	6620	c.6391C>T	c.(6391-6393)Ccc>Tcc	p.P2131S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2131S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2131	Ig-like C2-type 19.				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)	p.P2131S(1)		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						TGATGCTATTCCCCCACCTAC	0.418																																							uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(6391-6393)CCC>TCC		hemicentin 1 precursor							152.0	136.0	141.0					1																	186014906		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186014906C>T	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.6391C>T	1.37:g.186014906C>T	ENSP00000271588:p.Pro2131Ser						p.P2131S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			41	6620	+			2131			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6391C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492688	0.84962	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73897	-0.79;-0.79	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92687	0.6163	10	0.54805	T	0.06	.	19.1002	0.93270	0.0:1.0:0.0:0.0	.	2131	Q96RW7	HMCN1_HUMAN	S	2131	ENSP00000271588:P2131S;ENSP00000356462:P2131S	ENSP00000271588:P2131S	P	+	1	0	HMCN1	184281529	1.000000	0.71417	0.207000	0.23584	0.781000	0.44180	7.294000	0.78760	2.500000	0.84329	0.650000	0.86243	CCC		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	36	0	0	0	0.009096	0	4	36				
BRINP3	339479	broad.mit.edu	37	1	190068179	190068179	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:190068179G>T	ENST00000367462.3	-	8	1501	c.1270C>A	c.(1270-1272)Cac>Aac	p.H424N	BRINP3_ENST00000534846.1_Missense_Mutation_p.H322N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	424					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.H424N(2)									GTGCACGAGTGCGTCTCTTCT	0.552																																							uc001gse.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1270-1272)CAC>AAC		family with sequence similarity 5, member C							52.0	41.0	44.0					1																	190068179		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068179G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1270C>A	1.37:g.190068179G>T	ENSP00000356432:p.His424Asn					FAM5C_uc010pot.1_Missense_Mutation_p.H322N	p.H424N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1502	-	Prostate(682;0.198)		424					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1270C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242929	0.58995	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.40756	1.02;1.02	5.65	5.65	0.86999	.	0.105409	0.64402	D	0.000003	T	0.41880	0.1178	L	0.51422	1.61	0.49798	D	0.999827	B;B	0.27732	0.187;0.118	B;B	0.26770	0.073;0.033	T	0.34104	-0.9842	10	0.72032	D	0.01	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	322;424	B7Z260;Q76B58	.;FAM5C_HUMAN	N	424;322	ENSP00000356432:H424N;ENSP00000438022:H322N	ENSP00000356432:H424N	H	-	1	0	FAM5C	188334802	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.539000	0.73856	2.656000	0.90262	0.591000	0.81541	CAC		0.552	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		11	29	1	0	4.68919e-08	0.008291	5.56267e-08	11	29				
ASPM	259266	broad.mit.edu	37	1	197115467	197115467	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:197115467G>C	ENST00000367409.4	-	1	357	c.101C>G	c.(100-102)tCt>tGt	p.S34C	ASPM_ENST00000294732.7_Missense_Mutation_p.S34C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	34					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGGCGGGGAagacgcctcctc	0.706																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(100-102)TCT>TGT		asp (abnormal spindle)-like, microcephaly							37.0	42.0	40.0					1																	197115467		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197115467G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.101C>G	1.37:g.197115467G>C	ENSP00000356379:p.Ser34Cys					ASPM_uc001gtv.2_Missense_Mutation_p.S34C|ASPM_uc001gtw.3_5'UTR	p.S34C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			1	358	-			34					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.101C>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058338	0.36277	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367406	T;T	0.58652	0.32;1.57	4.44	2.39	0.29439	.	0.948810	0.08708	N	0.905391	T	0.41096	0.1144	N	0.14661	0.345	0.09310	N	1	B;B	0.25955	0.138;0.138	B;B	0.28305	0.088;0.088	T	0.38520	-0.9657	10	0.59425	D	0.04	.	8.0882	0.30784	0.0:0.285:0.5637:0.1513	.	34;34	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	C	34	ENSP00000356379:S34C;ENSP00000294732:S34C	ENSP00000294732:S34C	S	-	2	0	ASPM	195382090	0.636000	0.27207	0.002000	0.10522	0.011000	0.07611	-0.226000	0.09139	1.008000	0.39264	0.591000	0.81541	TCT		0.706	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	107	0	0	0	0.009096	0	4	107				
NR5A2	2494	broad.mit.edu	37	1	200017620	200017621	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:200017620_200017621GG>TT	ENST00000367362.3	+	5	1030_1031	c.784_785GG>TT	c.(784-786)GGc>TTc	p.G262F	NR5A2_ENST00000236914.3_Missense_Mutation_p.G216F|NR5A2_ENST00000544748.1_Missense_Mutation_p.G190F	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	262					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAAACATATGGCCACTTTCCT	0.51																																					Melanoma(179;1138 2773 15678 26136)	Melanoma(179;1138 2773 15678 26136)	uc001gvb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(784-786)GGC>TTC		nuclear receptor subfamily 5, group A, member 2																																				SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017620_200017621GG>TT	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	Exception_encountered	1.37:g.200017620_200017621delinsTT	ENSP00000356331:p.Gly262Phe					NR5A2_uc001gvc.2_Missense_Mutation_p.G216F|NR5A2_uc009wzh.2_Missense_Mutation_p.G222F|NR5A2_uc010pph.1_Missense_Mutation_p.G190F	p.G262F	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	990_991	+	Prostate(682;0.19)		262					B4E2P3|O95642|Q147U3	Missense_Mutation	DNP	ENST00000367362.3	37	c.784_785GG>TT	CCDS1401.1																																																																																				0.510	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			9	72	0	0	0	0.004672	0	9	72				
CAMSAP2	23271	broad.mit.edu	37	1	200730088	200730088	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:200730088C>G	ENST00000236925.4	+	2	310	c.261C>G	c.(259-261)ctC>ctG	p.L87L	CAMSAP2_ENST00000358823.2_Silent_p.L87L|CAMSAP2_ENST00000413307.2_Silent_p.L87L			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	87					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.L87L(1)									CTGGGAGTCTCATTCTCAAGA	0.433																																							uc001gvl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(259-261)CTC>CTG		calmodulin regulated spectrin-associated protein							172.0	170.0	171.0					1																	200730088		2203	4300	6503	SO:0001819	synonymous_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200730088C>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.261C>G	1.37:g.200730088C>G						CAMSAP1L1_uc001gvk.2_Silent_p.L87L|CAMSAP1L1_uc001gvm.2_Silent_p.L87L	p.L87L	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			2	531	+			87					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.261C>G																																																																																					0.433	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		13	93	0	0	0	0.001855	0	13	93				
LAD1	3898	broad.mit.edu	37	1	201356047	201356047	+	Missense_Mutation	SNP	G	G	C	rs545847472		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:201356047G>C	ENST00000391967.2	-	3	743	c.442C>G	c.(442-444)Cgg>Ggg	p.R148G	LAD1_ENST00000367313.3_Missense_Mutation_p.R162G	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	148						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CGCTGTTCCCGACTCAGTCTC	0.612																																							uc001gwm.2		NA																	0					0						c.(442-444)CGG>GGG		ladinin 1							45.0	55.0	51.0					1																	201356047		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201356047G>C	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.442C>G	1.37:g.201356047G>C	ENSP00000375829:p.Arg148Gly					LAD1_uc009wzu.1_Missense_Mutation_p.R170G	p.R148G	NM_005558	NP_005549	O00515	LAD1_HUMAN			3	677	-			148					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.442C>G	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820216	0.32145	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.15952	2.42;2.38	5.17	5.17	0.71159	.	0.849435	0.10438	N	0.674607	T	0.12518	0.0304	N	0.17474	0.49	0.30558	N	0.764771	B;B	0.18461	0.028;0.004	B;B	0.15484	0.013;0.008	T	0.08513	-1.0718	10	0.21014	T	0.42	-8.8694	14.1711	0.65510	0.0:0.0:1.0:0.0	.	162;148	E9PDI4;O00515	.;LAD1_HUMAN	G	148;162	ENSP00000375829:R148G;ENSP00000356282:R162G	ENSP00000356282:R162G	R	-	1	2	LAD1	199622670	0.966000	0.33281	0.887000	0.34795	0.737000	0.42083	1.853000	0.39358	2.394000	0.81467	0.655000	0.94253	CGG		0.612	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		12	139	0	0	0	0.013537	0	12	139				
PRELP	5549	broad.mit.edu	37	1	203455883	203455883	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:203455883C>T	ENST00000343110.2	+	3	1150	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	341					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.D341D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTTCCATGACTTCTCCTCGG	0.562																																							uc001gzs.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1021-1023)GAC>GAT		proline arginine-rich end leucine-rich repeat							118.0	103.0	108.0					1																	203455883		2203	4300	6503	SO:0001819	synonymous_variant	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203455883C>T	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.1023C>T	1.37:g.203455883C>T						PRELP_uc001gzt.2_Silent_p.D341D	p.D341D	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1223	+			341			LRR 11.		Q6FG38	Silent	SNP	ENST00000343110.2	37	c.1023C>T	CCDS1438.1																																																																																				0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		14	35	0	0	0	0.00245	0	14	35				
GOLT1A	127845	broad.mit.edu	37	1	204183019	204183019	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:204183019C>G	ENST00000308302.3	-	1	201	c.16G>C	c.(16-18)Gaa>Caa	p.E6Q		NM_198447.1	NP_940849.1			golgi transport 1A									p.E6Q(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CTCTGCCATTCGGTGATGGAG	0.642																																							uc001has.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(16-18)GAA>CAA		golgi transport 1 homolog A							68.0	53.0	58.0					1																	204183019		2203	4300	6503	SO:0001583	missense	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204183019C>G	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.16G>C	1.37:g.204183019C>G	ENSP00000308535:p.Glu6Gln					GOLT1A_uc001hat.1_Missense_Mutation_p.E6Q	p.E6Q	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		1	202	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		6			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000308302.3	37	c.16G>C	CCDS1443.1	.	.	.	.	.	.	.	.	.	.	c	15.82	2.945076	0.53079	.	.	ENSG00000174567	ENST00000308302	.	.	.	4.63	3.72	0.42706	.	0.664334	0.12719	N	0.444853	T	0.49677	0.1571	M	0.77486	2.375	0.31089	N	0.711028	P	0.35493	0.505	B	0.36092	0.217	T	0.58446	-0.7635	9	0.72032	D	0.01	-5.0229	8.9108	0.35552	0.0:0.8946:0.0:0.1054	.	6	Q6ZVE7	GOT1A_HUMAN	Q	6	.	ENSP00000308535:E6Q	E	-	1	0	GOLT1A	202449642	0.855000	0.29742	0.662000	0.29724	0.971000	0.66376	3.614000	0.54160	1.071000	0.40834	0.496000	0.49642	GAA		0.642	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		6	24	0	0	0	0.001168	0	6	24				
NUCKS1	64710	broad.mit.edu	37	1	205696877	205696877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:205696877G>A	ENST00000367142.4	-	3	426	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R42*(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTAGCTTCTCGGGGAGATGAT	0.378																																							uc001hdb.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(124-126)CGA>TGA		nuclear casein kinase and cyclin-dependent							127.0	117.0	121.0					1																	205696877		2203	4300	6503	SO:0001587	stop_gained	64710					nucleus		g.chr1:205696877G>A		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.124C>T	1.37:g.205696877G>A	ENSP00000356110:p.Arg42*						p.R42*	NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	384	-	Breast(84;0.07)		42					Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Nonsense_Mutation	SNP	ENST00000367142.4	37	c.124C>T	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	G	38	6.939799	0.97948	.	.	ENSG00000069275	ENST00000367142	.	.	.	5.59	3.61	0.41365	.	0.055521	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8706	13.6907	0.62544	0.0:0.0:0.4907:0.5093	.	.	.	.	X	42	.	ENSP00000356110:R42X	R	-	1	2	NUCKS1	203963500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.816000	0.48026	1.310000	0.45006	0.650000	0.86243	CGA		0.378	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		7	41	0	0	0	0.001984	0	7	41				
PLXNA2	5362	broad.mit.edu	37	1	208390760	208390760	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:208390760C>A	ENST00000367033.3	-	2	1265	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	170	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G170W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACAATCACCCCGTACATGGTG	0.587																																							uc001hgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(508-510)GGG>TGG		plexin A2 precursor							166.0	167.0	166.0					1																	208390760		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390760C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.508G>T	1.37:g.208390760C>A	ENSP00000356000:p.Gly170Trp					PLXNA2_uc001hha.3_Missense_Mutation_p.G224W	p.G170W	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1266	-			170			Extracellular (Potential).|Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.508G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321566	0.60634	.	.	ENSG00000076356	ENST00000367033	T	0.09538	2.97	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.42783	-0.9431	10	0.87932	D	0	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	224;170	O75051-2;O75051	.;PLXA2_HUMAN	W	170	ENSP00000356000:G170W	ENSP00000356000:G170W	G	-	1	0	PLXNA2	206457383	1.000000	0.71417	0.875000	0.34327	0.383000	0.30230	7.538000	0.82048	2.697000	0.92050	0.563000	0.77884	GGG		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		38	289	1	0	1.56738e-10	0.004289	1.93688e-10	38	289				
FAM71A	149647	broad.mit.edu	37	1	212798989	212798989	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:212798989C>T	ENST00000294829.3	+	1	1201	c.770C>T	c.(769-771)gCa>gTa	p.A257V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	257						nucleus (GO:0005634)		p.A257V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGCTCAATGCATCCATCCCC	0.552																																							uc001hjk.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(769-771)GCA>GTA		hypothetical protein LOC149647							99.0	106.0	104.0					1																	212798989		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798989C>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.770C>T	1.37:g.212798989C>T	ENSP00000294829:p.Ala257Val					uc010pth.1_RNA	p.A257V	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1174	+			257					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.770C>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	T	3.255	-0.152515	0.06585	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03468	3.92	3.59	-1.7	0.08159	.	.	.	.	.	T	0.01254	0.0041	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47484	-0.9114	9	0.09590	T	0.72	0.0086	5.1867	0.15187	0.0:0.4285:0.178:0.3935	.	257	Q8IYT1	FA71A_HUMAN	V	257;32	ENSP00000294829:A257V	ENSP00000294829:A257V	A	+	2	0	FAM71A	210865612	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.726000	0.04936	-0.862000	0.04089	-1.216000	0.01612	GCA		0.552	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		17	173	0	0	0	0.007413	0	17	173				
PTPN14	5784	broad.mit.edu	37	1	214551349	214551349	+	Missense_Mutation	SNP	G	G	A	rs533330548		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:214551349G>A	ENST00000366956.5	-	14	2835	c.2641C>T	c.(2641-2643)Cgg>Tgg	p.R881W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	881					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.R881W(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTCTTCCCGCCCTGAGACT	0.547																																					Colon(92;557 1424 24372 34121 40073)	Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2641-2643)CGG>TGG		protein tyrosine phosphatase, non-receptor type							112.0	98.0	103.0					1																	214551349		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214551349G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2641C>T	1.37:g.214551349G>A	ENSP00000355923:p.Arg881Trp					PTPN14_uc010pty.1_Missense_Mutation_p.R782W	p.R881W	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	14	2912	-			881					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2641C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745695	0.89663	.	.	ENSG00000152104	ENST00000366956	T	0.14640	2.49	5.35	5.35	0.76521	.	0.062987	0.64402	D	0.000007	T	0.18215	0.0437	L	0.40543	1.245	0.80722	D	1	D	0.62365	0.991	P	0.46479	0.518	T	0.00792	-1.1564	10	0.37606	T	0.19	.	19.0863	0.93204	0.0:0.0:1.0:0.0	.	881	Q15678	PTN14_HUMAN	W	881	ENSP00000355923:R881W	ENSP00000355923:R881W	R	-	1	2	PTPN14	212617972	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.281000	0.58965	2.507000	0.84556	0.563000	0.77884	CGG		0.547	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		31	47	0	0	0	0.009535	0	31	47				
PTPN14	5784	broad.mit.edu	37	1	214557780	214557780	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:214557780T>A	ENST00000366956.5	-	13	1612	c.1418A>T	c.(1417-1419)aAc>aTc	p.N473I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	473					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.N473I(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCATGGGTGTTGATAATGTT	0.562																																					Colon(92;557 1424 24372 34121 40073)	Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1417-1419)AAC>ATC		protein tyrosine phosphatase, non-receptor type							159.0	170.0	166.0					1																	214557780		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557780T>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1418A>T	1.37:g.214557780T>A	ENSP00000355923:p.Asn473Ile					PTPN14_uc010pty.1_Missense_Mutation_p.N374I	p.N473I	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1689	-			473					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1418A>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524863	0.64747	.	.	ENSG00000152104	ENST00000366956	T	0.70749	-0.51	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.84562	0.0650	10	0.72032	D	0.01	.	15.5927	0.76550	0.0:0.0:0.0:1.0	.	473	Q15678	PTN14_HUMAN	I	473	ENSP00000355923:N473I	ENSP00000355923:N473I	N	-	2	0	PTPN14	212624403	1.000000	0.71417	0.940000	0.37924	0.862000	0.49288	4.140000	0.58031	2.091000	0.63221	0.533000	0.62120	AAC		0.562	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		138	143	0	0	0	0.01441	0	138	143				
USH2A	7399	broad.mit.edu	37	1	216348824	216348824	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:216348824G>A	ENST00000307340.3	-	21	4783	c.4397C>T	c.(4396-4398)gCa>gTa	p.A1466V	USH2A_ENST00000366943.2_Splice_Site_p.A1466V|USH2A_ENST00000366942.3_Splice_Site_p.A1466V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1466	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A1466V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTGCTGGTGCTAAATATTA	0.373										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4396-4398)GCA>GTA		usherin isoform B							95.0	89.0	91.0					1																	216348824		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216348824G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4397-1C>T	1.37:g.216348824G>A		HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.A1466V	p.A1466V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	21	4784	-			1466			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4397C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394593	0.83011	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.52983	0.64;0.64;0.64	5.38	4.47	0.54385	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.42548	U	0.000690	T	0.65512	0.2698	M	0.71581	2.175	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.63633	-0.6593	10	0.25751	T	0.34	.	14.2673	0.66126	0.0722:0.0:0.9278:0.0	.	1466;1466	O75445-2;O75445	.;USH2A_HUMAN	V	1466	ENSP00000305941:A1466V;ENSP00000355910:A1466V;ENSP00000355909:A1466V	ENSP00000305941:A1466V	A	-	2	0	USH2A	214415447	1.000000	0.71417	0.883000	0.34634	0.784000	0.44337	6.265000	0.72534	1.246000	0.43901	0.544000	0.68410	GCA		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Missense_Mutation	12	30	0	0	0	0.001855	0	12	30				
MARK1	4139	broad.mit.edu	37	1	220825366	220825366	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:220825366G>C	ENST00000366917.4	+	15	1876	c.1610G>C	c.(1609-1611)gGc>gCc	p.G537A	MARK1_ENST00000402574.1_Missense_Mutation_p.G402A|MARK1_ENST00000366918.4_Missense_Mutation_p.G515A					MAP/microtubule affinity-regulating kinase 1									p.G537A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCTTCTGCAGGCTCTTCTGTG	0.463																																							uc001hmn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1609-1611)GGC>GCC		MAP/microtubule affinity-regulating kinase 1							99.0	93.0	95.0					1																	220825366		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220825366G>C	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1610G>C	1.37:g.220825366G>C	ENSP00000355884:p.Gly537Ala					MARK1_uc009xdw.2_Missense_Mutation_p.G537A|MARK1_uc010pun.1_Missense_Mutation_p.G537A|MARK1_uc001hmm.3_Missense_Mutation_p.G515A	p.G537A	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	15	2207	+			537						Missense_Mutation	SNP	ENST00000366917.4	37	c.1610G>C	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508945	0.44660	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.71934	-0.47;-0.26;-0.61	5.95	5.01	0.66863	.	0.110847	0.64402	N	0.000009	T	0.59500	0.2198	L	0.29908	0.895	0.53005	D	0.999968	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.53795	-0.8388	10	0.17369	T	0.5	.	16.9515	0.86246	0.0:0.1278:0.8722:0.0	.	537;402;537;515	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	A	402;515;537	ENSP00000386017:G402A;ENSP00000355885:G515A;ENSP00000355884:G537A	ENSP00000355884:G537A	G	+	2	0	MARK1	218891989	1.000000	0.71417	0.115000	0.21578	0.979000	0.70002	2.693000	0.47027	1.458000	0.47871	0.563000	0.77884	GGC		0.463	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			13	78	0	0	0	0.001855	0	13	78				
DEGS1	8560	broad.mit.edu	37	1	224377623	224377623	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:224377623G>A	ENST00000323699.4	+	2	593	c.427G>A	c.(427-429)Gat>Aat	p.D143N	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.D143N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	143					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.D143N(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CGTCGATGTAGATATTCCTAC	0.408																																							uc001hoj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GAT>AAT		degenerative spermatocyte homolog 1, lipid							206.0	195.0	199.0					1																	224377623		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377623G>A	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.427G>A	1.37:g.224377623G>A	ENSP00000316476:p.Asp143Asn					DEGS1_uc001hoi.2_Missense_Mutation_p.D122N	p.D143N	NM_144780	NP_659004	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	538	+	Breast(184;0.193)		143						Missense_Mutation	SNP	ENST00000323699.4	37	c.427G>A	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313544	0.95655	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.22539	1.95;1.95;1.95	6.02	6.02	0.97574	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	H	0.96720	3.87	0.80722	D	1	D;P	0.71674	0.998;0.896	D;P	0.83275	0.996;0.596	T	0.76055	-0.3099	10	0.87932	D	0	.	20.5385	0.99246	0.0:0.0:1.0:0.0	.	143;122	O15121;E7EMA0	DEGS1_HUMAN;.	N	122;143;143	ENSP00000400545:D122N;ENSP00000316476:D143N;ENSP00000375749:D143N	ENSP00000316476:D143N	D	+	1	0	DEGS1	222444246	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	9.869000	0.99810	2.863000	0.98299	0.549000	0.68633	GAT		0.408	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			17	96	0	0	0	0.00499	0	17	96				
CNIH3	149111	broad.mit.edu	37	1	224872505	224872505	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:224872505G>C	ENST00000272133.3	+	3	1040	c.158G>C	c.(157-159)cGg>cCg	p.R53P		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	53					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)	p.R53P(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TAGAGGGAACGGTTGAGGAAC	0.542																																							uc001hos.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)CGG>CCG		cornichon homolog 3							187.0	154.0	165.0					1																	224872505		2203	4300	6503	SO:0001583	missense	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224872505G>C	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.158G>C	1.37:g.224872505G>C	ENSP00000272133:p.Arg53Pro						p.R53P	NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	3	856	+	Breast(184;0.218)		53			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000272133.3	37	c.158G>C	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930806	0.73327	.	.	ENSG00000143786	ENST00000272133	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	U	0.000000	T	0.63177	0.2489	N	0.22421	0.69	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.63435	-0.6638	9	0.34782	T	0.22	-14.8808	15.9805	0.80105	0.0:0.0:1.0:0.0	.	53	Q8TBE1	CNIH3_HUMAN	P	53	.	ENSP00000272133:R53P	R	+	2	0	CNIH3	222939128	0.998000	0.40836	1.000000	0.80357	0.889000	0.51656	6.605000	0.74155	2.063000	0.61619	0.551000	0.68910	CGG		0.542	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495		6	84	0	0	0	0.001984	0	6	84				
ACBD3	64746	broad.mit.edu	37	1	226340111	226340111	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:226340111C>G	ENST00000366812.5	-	7	1354	c.1300G>C	c.(1300-1302)Gaa>Caa	p.E434Q	RP11-275I14.4_ENST00000440540.1_RNA|ACBD3_ENST00000464927.1_5'Flank	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	434	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.E434Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TCTGTCCATTCAAAATACACC	0.468																																							uc001hpy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1300-1302)GAA>CAA		acyl-Coenzyme A binding domain containing 3							175.0	164.0	168.0					1																	226340111		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340111C>G	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1300G>C	1.37:g.226340111C>G	ENSP00000355777:p.Glu434Gln						p.E434Q	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1347	-	Breast(184;0.158)		434			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1300G>C	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744277	0.89663	.	.	ENSG00000182827	ENST00000366812	T	0.44482	0.92	5.46	5.46	0.80206	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.69011	-0.5258	10	0.87932	D	0	-18.345	19.3089	0.94177	0.0:1.0:0.0:0.0	.	434	Q9H3P7	GCP60_HUMAN	Q	434	ENSP00000355777:E434Q	ENSP00000355777:E434Q	E	-	1	0	ACBD3	224406734	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.426000	0.80270	2.571000	0.86741	0.655000	0.94253	GAA		0.468	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		5	140	0	0	0	0.000602	0	5	140				
WNT9A	7483	broad.mit.edu	37	1	228109549	228109549	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228109549G>A	ENST00000272164.5	-	4	778	c.768C>T	c.(766-768)acC>acT	p.T256T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	256					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.T256T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CTTCATTGGTGGTGCTGCCCA	0.672																																							uc001hri.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(766-768)ACC>ACT		wingless-type MMTV integration site family,							55.0	56.0	56.0					1																	228109549		2203	4300	6503	SO:0001819	synonymous_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109549G>A	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.768C>T	1.37:g.228109549G>A							p.T256T	NM_003395	NP_003386	O14904	WNT9A_HUMAN			4	856	-		Prostate(94;0.0405)	256					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	c.768C>T	CCDS31045.1																																																																																				0.672	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		14	99	0	0	0	0.00245	0	14	99				
IBA57	200205	broad.mit.edu	37	1	228363178	228363178	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228363178A>G	ENST00000366711.3	+	3	1037	c.1035A>G	c.(1033-1035)gcA>gcG	p.A345A	IBA57_ENST00000546123.1_Silent_p.A152A|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	345					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)	p.A345A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCTTAGCCGCATCTGTGCCAG	0.647																																							uc001hsl.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1033-1035)GCA>GCG		hypothetical protein LOC200205 precursor							71.0	77.0	75.0					1																	228363178		2203	4299	6502	SO:0001819	synonymous_variant	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228363178A>G	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.1035A>G	1.37:g.228363178A>G						C1orf69_uc010pvw.1_Silent_p.A152A	p.A345A	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			3	1124	+		Prostate(94;0.0405)	345						Silent	SNP	ENST00000366711.3	37	c.1035A>G	CCDS31046.1																																																																																				0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		73	95	0	0	0	0.01441	0	73	95				
OBSCN	84033	broad.mit.edu	37	1	228559464	228559464	+	Missense_Mutation	SNP	C	C	G	rs542761271		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:228559464C>G	ENST00000422127.1	+	94	21029	c.20985C>G	c.(20983-20985)atC>atG	p.I6995M	OBSCN_ENST00000570156.2_Missense_Mutation_p.I7952M|OBSCN_ENST00000366707.4_Missense_Mutation_p.I4629M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6995	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.I7707M(1)|p.I7577M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCCCCTATCAGGGACATGG	0.692																																							uc009xez.1		NA																	2	Substitution - Missense(2)		lung(2)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(20983-20985)ATC>ATG		obscurin, cytoskeletal calmodulin and							18.0	21.0	20.0					1																	228559464		1825	3976	5801	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559464C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20985C>G	1.37:g.228559464C>G	ENSP00000409493:p.Ile6995Met					OBSCN_uc001hsr.1_Missense_Mutation_p.I1624M	p.I6995M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			94	21029	+		Prostate(94;0.0405)	6995			Pro-rich.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20985C>G	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.83|10.83	1.460143|1.460143	0.26248|0.26248	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.61392|.	0.11;0.15|.	4.21|4.21	0.0599|0.0599	0.14334|0.14334	.|.	.|.	.|.	.|.	.|.	T|T	0.09818|0.09818	0.0241|0.0241	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.28996|0.28996	-1.0026|-1.0026	9|5	0.29301|.	T|.	0.29|.	.|.	2.9922|2.9922	0.05987|0.05987	0.1265:0.4542:0.2527:0.1666|0.1265:0.4542:0.2527:0.1666	.|.	6995|.	Q5VST9|.	OBSCN_HUMAN|.	M|E	6995;4629|1612	ENSP00000409493:I6995M;ENSP00000355668:I4629M|.	ENSP00000355668:I4629M|.	I|Q	+|+	3|1	3|0	OBSCN|OBSCN	226626087|226626087	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.028000|0.028000	0.13644|0.13644	-0.130000|-0.130000	0.11599|0.11599	-1.358000|-1.358000	0.01219|0.01219	ATC|CAG		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		28	28	0	0	0	0.009535	0	28	28				
CAPN9	10753	broad.mit.edu	37	1	230910379	230910379	+	Splice_Site	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:230910379T>A	ENST00000271971.2	+	8	1066		c.e8+2		CAPN9_ENST00000366666.2_Splice_Site|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Intron|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9						digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAATTCTGGTACCGTGCTTG	0.507																																							uc001htz.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e8+2		calpain 9 isoform 1							195.0	156.0	169.0					1																	230910379		2203	4300	6503	SO:0001630	splice_region_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230910379T>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.953+2T>A	1.37:g.230910379T>A						CAPN9_uc009xfg.1_Splice_Site_p.W255_splice|CAPN9_uc001hua.1_Intron	p.W318_splice	NM_006615	NP_006606	O14815	CAN9_HUMAN			8	1066	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)						B1APS1|B1AQI0|Q9NS74	Splice_Site	SNP	ENST00000271971.2	37	c.953_splice	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639187	0.67244	.	.	ENSG00000135773	ENST00000271971;ENST00000366666	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4872	0.67626	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPN9	228977002	1.000000	0.71417	0.964000	0.40570	0.623000	0.37688	7.019000	0.76412	1.833000	0.53350	0.374000	0.22700	.		0.507	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	Intron	8	41	0	0	0	0.00308	0	8	41				
TARBP1	6894	broad.mit.edu	37	1	234593467	234593467	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:234593467G>A	ENST00000040877.1	-	9	1667	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	556					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.L556L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAGAGACATGAGAAAAGTTG	0.328																																							uc001hwd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1666-1668)CTC>CTT		TAR RNA binding protein 1							58.0	60.0	59.0					1																	234593467		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234593467G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1668C>T	1.37:g.234593467G>A							p.L556L	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		9	1668	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	556					Q9H581	Silent	SNP	ENST00000040877.1	37	c.1668C>T	CCDS1601.1																																																																																				0.328	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		18	15	0	0	0	0.012319	0	18	15				
TBCE	6905	broad.mit.edu	37	1	235612020	235612020	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:235612020A>C	ENST00000366601.3	+	17	1703	c.1527A>C	c.(1525-1527)ctA>ctC	p.L509L	TBCE_ENST00000406207.1_Silent_p.L509L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000543662.1_Silent_p.L560L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	509					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)	p.L509L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AAAATGACCTAAAGTCATTAC	0.393																																							uc001hwz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1525-1527)CTA>CTC		beta-tubulin cofactor E							76.0	78.0	77.0					1																	235612020		2203	4300	6503	SO:0001819	synonymous_variant	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235612020A>C	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1527A>C	1.37:g.235612020A>C						TBCE_uc001hxa.1_Silent_p.L509L|TBCE_uc010pxr.1_Silent_p.L560L|TBCE_uc001hxb.1_Silent_p.L396L|B3GALNT2_uc001hxc.2_3'UTR	p.L509L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		17	1650	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	509					A8K8C2|B7Z3P1	Silent	SNP	ENST00000366601.3	37	c.1527A>C	CCDS1605.1																																																																																				0.393	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		9	54	0	0	0	0.006214	0	9	54				
ACTN2	88	broad.mit.edu	37	1	236918345	236918345	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:236918345C>T	ENST00000366578.4	+	17	2167	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	ACTN2_ENST00000542672.1_Silent_p.I667I|ACTN2_ENST00000546208.1_Silent_p.I161I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	667					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.I667I(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCATCCAGATCACAGGAGCCC	0.557																																							uc001hyf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(1999-2001)ATC>ATT		actinin, alpha 2							120.0	118.0	118.0					1																	236918345		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236918345C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2001C>T	1.37:g.236918345C>T						ACTN2_uc001hyg.2_Silent_p.I459I|ACTN2_uc009xgi.1_Silent_p.I667I|ACTN2_uc010pxu.1_Silent_p.I356I|ACTN2_uc001hyh.2_Silent_p.I355I	p.I667I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		17	2205	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	667			Spectrin 4.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.2001C>T	CCDS1613.1																																																																																				0.557	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		28	130	0	0	0	0.007291	0	28	130				
RYR2	6262	broad.mit.edu	37	1	237753224	237753224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:237753224A>G	ENST00000366574.2	+	30	4047	c.3730A>G	c.(3730-3732)Aac>Gac	p.N1244D	RYR2_ENST00000360064.6_Missense_Mutation_p.N1242D|RYR2_ENST00000542537.1_Missense_Mutation_p.N1228D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1244	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.N1242D(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGTTAATACAAACAGGGATAT	0.398																																							uc001hyl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3730-3732)AAC>GAC		cardiac muscle ryanodine receptor							105.0	102.0	103.0					1																	237753224		1911	4131	6042	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753224A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3730A>G	1.37:g.237753224A>G	ENSP00000355533:p.Asn1244Asp						p.N1244D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	3850	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1244			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3730A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	a	16.91	3.253439	0.59212	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96522	-4.04;-4.02;-4.04	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000002	D	0.93585	0.7952	L	0.36672	1.1	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	D	0.90497	0.4471	10	0.49607	T	0.09	-23.8005	15.8433	0.78868	1.0:0.0:0.0:0.0	.	1244	Q92736	RYR2_HUMAN	D	1244;1242;1228	ENSP00000355533:N1244D;ENSP00000353174:N1242D;ENSP00000443798:N1228D	ENSP00000353174:N1242D	N	+	1	0	RYR2	235819847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.279000	0.95777	2.136000	0.66102	0.528000	0.53228	AAC		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		17	25	0	0	0	0.00499	0	17	25				
ZP4	57829	broad.mit.edu	37	1	238050702	238050702	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:238050702G>A	ENST00000366570.4	-	5	871	c.713C>T	c.(712-714)cCa>cTa	p.P238L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	238	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.P238L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAAGTAAATGGAAACTGGAA	0.522																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(712-714)CCA>CTA		zona pellucida glycoprotein 4 preproprotein							154.0	149.0	151.0					1																	238050702		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050702G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.713C>T	1.37:g.238050702G>A	ENSP00000355529:p.Pro238Leu					LOC100130331_uc010pyc.1_Intron	p.P238L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	713	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	238			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.713C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699611	0.48307	.	.	ENSG00000116996	ENST00000366570	D	0.84516	-1.86	5.26	4.33	0.51752	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.061337	0.64402	D	0.000003	D	0.93357	0.7882	M	0.93720	3.45	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.94322	0.7554	10	0.87932	D	0	-14.3732	11.9996	0.53222	0.0869:0.0:0.913:0.0	.	238	Q12836	ZP4_HUMAN	L	238	ENSP00000355529:P238L	ENSP00000355529:P238L	P	-	2	0	ZP4	236117325	1.000000	0.71417	0.617000	0.29091	0.061000	0.15899	6.609000	0.74173	2.448000	0.82819	0.655000	0.94253	CCA		0.522	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			15	94	0	0	0	0.006122	0	15	94				
C1orf101	257044	broad.mit.edu	37	1	244716037	244716037	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:244716037G>A	ENST00000366534.4	+	9	1004	c.950G>A	c.(949-951)gGa>gAa	p.G317E	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.G317E|C1orf101_ENST00000366531.3_Missense_Mutation_p.G166E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	317						CatSper complex (GO:0036128)		p.G317E(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATAAGACTGGGAGGAATTGTA	0.343																																							uc001iam.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|breast(1)	2						c.(949-951)GGA>GAA		hypothetical protein LOC257044 isoform 1							104.0	108.0	107.0					1																	244716037		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244716037G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.950G>A	1.37:g.244716037G>A	ENSP00000355492:p.Gly317Glu					C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.G317E|C1orf101_uc010pym.1_Missense_Mutation_p.G166E|C1orf101_uc010pyn.1_Missense_Mutation_p.G250E	p.G317E	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		9	1009	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		317			Extracellular (Potential).		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.950G>A	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940779	0.52972	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T	0.31247	1.5;1.5;1.5	5.71	2.09	0.27110	.	0.489617	0.19345	N	0.116541	T	0.39682	0.1087	L	0.55481	1.735	0.09310	N	1	D;D;D	0.69078	0.997;0.973;0.986	D;P;P	0.63033	0.91;0.791;0.791	T	0.09818	-1.0657	10	0.56958	D	0.05	.	3.8985	0.09150	0.2583:0.1883:0.5534:0.0	.	237;317;317	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	E	317;317;317;237;166	ENSP00000355492:G317E;ENSP00000355491:G317E;ENSP00000395796:G237E	ENSP00000355489:G166E	G	+	2	0	C1orf101	242782660	0.564000	0.26602	0.014000	0.15608	0.003000	0.03518	1.103000	0.31062	1.200000	0.43188	0.655000	0.94253	GGA		0.343	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		43	41	0	0	0	0.011902	0	43	41				
AHCTF1	25909	broad.mit.edu	37	1	247065962	247065962	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247065962C>T	ENST00000391829.2	-	8	1105	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	AHCTF1_ENST00000326225.3_Missense_Mutation_p.E337K|AHCTF1_ENST00000366508.1_Missense_Mutation_p.E363K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	328	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E328K(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATCTTTCTTCACAGTATTCT	0.368																																					Colon(145;197 1800 4745 15099 26333)	Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(982-984)GAA>AAA		transcription factor ELYS							89.0	85.0	87.0					1																	247065962		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247065962C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.982G>A	1.37:g.247065962C>T	ENSP00000375705:p.Glu328Lys					AHCTF1_uc001ibv.1_Missense_Mutation_p.E337K	p.E328K	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		7	989	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	328			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.982G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.107552	0.94292	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.22134	1.97;1.97;1.97	5.2	5.2	0.72013	.	0.050844	0.85682	D	0.000000	T	0.30978	0.0782	L	0.29908	0.895	0.54753	D	0.999981	D;D	0.59767	0.986;0.981	P;P	0.56398	0.797;0.704	T	0.01648	-1.1304	10	0.45353	T	0.12	-25.6705	19.0959	0.93251	0.0:1.0:0.0:0.0	.	363;328	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	K	363;337;328	ENSP00000355464:E363K;ENSP00000355465:E337K;ENSP00000375705:E328K	ENSP00000355465:E337K	E	-	1	0	AHCTF1	245132585	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.256000	0.78350	2.587000	0.87381	0.563000	0.77884	GAA		0.368	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		16	71	0	0	0	0.00499	0	16	71				
OR2W5	441932	broad.mit.edu	37	1	247654775	247654775	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247654775G>A	ENST00000522351.1	+	0	406							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V116I(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGTCCTCCTGGTTGTCATGTC	0.607																																							uc001icz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(346-348)GTT>ATT		olfactory receptor, family 2, subfamily W,							101.0	92.0	95.0					1																	247654775		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654775G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654775G>A							p.V116I	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	346	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	116			Helical; Name=3; (Potential).		B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.346G>A																																																																																					0.607	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		55	82	0	0	0	0.01441	0	55	82				
OR2C3	81472	broad.mit.edu	37	1	247695646	247695646	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247695646G>T	ENST00000366487.3	-	2	529	c.168C>A	c.(166-168)ctC>ctA	p.L56L	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55L(3)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGTGTGTGGAGGTGCACAT	0.493																																							uc009xgy.2		NA																	3	Substitution - coding silent(3)		lung(2)|breast(1)	ovary(1)|skin(1)	2						c.(166-168)CTC>CTA		olfactory receptor, family 2, subfamily C,							157.0	138.0	144.0					1																	247695646		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695646G>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.168C>A	1.37:g.247695646G>T						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.L56L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	530	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	56			Cytoplasmic (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.168C>A	CCDS1634.2																																																																																				0.493	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		46	52	1	0	1.76056e-25	0.011902	2.42306e-25	46	52				
OR13G1	441933	broad.mit.edu	37	1	247835786	247835786	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247835786A>G	ENST00000359688.2	-	1	579	c.558T>C	c.(556-558)tgT>tgC	p.C186C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C186C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTACAGGGCTACAGGACAAAG	0.463																																							uc001idi.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(556-558)TGT>TGC		olfactory receptor, family 13, subfamily G,							87.0	86.0	86.0					1																	247835786		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835786A>G	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.558T>C	1.37:g.247835786A>G							p.C186C	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	558	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		186			Extracellular (Potential).		B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.558T>C	CCDS31094.1																																																																																				0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		6	52	0	0	0	0.001984	0	6	52				
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247836167G>T	ENST00000359688.2	-	1	198	c.177C>A	c.(175-177)ttC>ttA	p.F59L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F59L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTCAGAAGGAAAACATACA	0.418																																							uc001idi.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(175-177)TTC>TTA		olfactory receptor, family 13, subfamily G,							88.0	67.0	74.0					1																	247836167		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836167G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.177C>A	1.37:g.247836167G>T	ENSP00000352717:p.Phe59Leu						p.F59L	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	177	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		59			Helical; Name=2; (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.177C>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840152	0.32513	.	.	ENSG00000197437	ENST00000359688	T	0.13778	2.56	4.16	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.950592	0.08637	N	0.916105	T	0.13030	0.0316	L	0.41027	1.25	0.21290	N	0.999736	B	0.22211	0.066	B	0.30401	0.115	T	0.40850	-0.9541	10	0.62326	D	0.03	-31.3521	5.5106	0.16878	0.2049:0.1621:0.633:0.0	.	59	Q8NGZ3	O13G1_HUMAN	L	59	ENSP00000352717:F59L	ENSP00000352717:F59L	F	-	3	2	OR13G1	245902790	0.882000	0.30256	0.010000	0.14722	0.063000	0.16089	0.080000	0.14802	0.113000	0.18004	-0.261000	0.10672	TTC		0.418	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		14	10	1	0	1.05317e-09	0.00245	1.28397e-09	14	10				
OR6F1	343169	broad.mit.edu	37	1	247875710	247875710	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:247875710T>A	ENST00000302084.2	-	1	395	c.348A>T	c.(346-348)gcA>gcT	p.A116A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A116A(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGCCATGGCTGCCAGGAGGA	0.517																																							uc001idj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)GCA>GCT		olfactory receptor, family 6, subfamily F,							85.0	82.0	83.0					1																	247875710		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875710T>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.348A>T	1.37:g.247875710T>A							p.A116A	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	348	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		116			Helical; Name=3; (Potential).		B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.348A>T	CCDS31095.1																																																																																				0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		7	47	0	0	0	0.001984	0	7	47				
OR2W3	343171	broad.mit.edu	37	1	248059305	248059305	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248059305G>T	ENST00000360358.3	+	1	417	c.417G>T	c.(415-417)agG>agT	p.R139S	OR2W3_ENST00000537741.1_Missense_Mutation_p.R139S	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139S(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAACCCCAGGCTCTGCCGGG	0.627																																							uc001idp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(415-417)AGG>AGT		olfactory receptor, family 2, subfamily W,							81.0	63.0	69.0					1																	248059305		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059305G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.417G>T	1.37:g.248059305G>T	ENSP00000353516:p.Arg139Ser					OR2W3_uc010pzb.1_Missense_Mutation_p.R139S	p.R139S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	686	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		139			Cytoplasmic (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.417G>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443728	0.12164	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.40756	1.02;1.02	5.17	-1.8	0.07907	GPCR, rhodopsin-like superfamily (1);	0.926455	0.09071	N	0.852868	T	0.36441	0.0967	L	0.52011	1.625	0.09310	N	1	P	0.35307	0.494	B	0.43155	0.41	T	0.45352	-0.9267	10	0.62326	D	0.03	.	0.2622	0.00220	0.3177:0.1347:0.2339:0.3137	.	139	Q7Z3T1	OR2W3_HUMAN	S	139	ENSP00000445853:R139S;ENSP00000353516:R139S	ENSP00000353516:R139S	R	+	3	2	OR2W3	246125928	0.000000	0.05858	0.012000	0.15200	0.028000	0.11728	-2.951000	0.00678	-0.231000	0.09825	0.603000	0.83216	AGG		0.627	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		47	44	1	0	1.7489e-18	0.011902	2.34263e-18	47	44				
OR2M2	391194	broad.mit.edu	37	1	248343411	248343411	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248343411A>T	ENST00000359682.2	+	1	124	c.124A>T	c.(124-126)Aac>Tac	p.N42Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N42Y(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCATGGGAAACTCTGTCAT	0.522																																							uc010pzf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(124-126)AAC>TAC		olfactory receptor, family 2, subfamily M,							296.0	282.0	287.0					1																	248343411		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343411A>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.124A>T	1.37:g.248343411A>T	ENSP00000352710:p.Asn42Tyr						p.N42Y	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	124	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		42			Helical; Name=1; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.124A>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	15.43	2.832349	0.50845	.	.	ENSG00000198601	ENST00000359682	T	0.74842	-0.88	2.03	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32852	U	0.005575	D	0.89897	0.6848	H	0.98594	4.275	0.26005	N	0.982065	D	0.89917	1.0	D	0.97110	1.0	T	0.81540	-0.0886	10	0.87932	D	0	.	9.5289	0.39182	1.0:0.0:0.0:0.0	.	42	Q96R28	OR2M2_HUMAN	Y	42	ENSP00000352710:N42Y	ENSP00000352710:N42Y	N	+	1	0	OR2M2	246410034	0.998000	0.40836	0.003000	0.11579	0.013000	0.08279	5.959000	0.70339	0.951000	0.37770	0.373000	0.22412	AAC		0.522	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		115	124	0	0	0	0.01441	0	115	124				
OR2T6	254879	broad.mit.edu	37	1	248551236	248551236	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248551236G>T	ENST00000355728.2	+	1	327	c.327G>T	c.(325-327)ggG>ggT	p.G109G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G109G(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTTATGGGGGCTGAATTCT	0.562																																							uc001iei.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(325-327)GGG>GGT		olfactory receptor, family 2, subfamily T,							94.0	100.0	98.0					1																	248551236		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551236G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.327G>T	1.37:g.248551236G>T							p.G109G	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	327	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		109			Helical; Name=3; (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.327G>T	CCDS31114.1																																																																																				0.562	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		15	76	1	0	0.000308642	0.003163	0.000328795	15	76				
OR2T34	127068	broad.mit.edu	37	1	248737412	248737412	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248737412A>G	ENST00000328782.2	-	1	668	c.647T>C	c.(646-648)aTc>aCc	p.I216T		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I216T(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGACCATGATGGGGGTGAG	0.572																																							uc001iep.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(646-648)ATC>ACC		olfactory receptor, family 2, subfamily T,							184.0	202.0	196.0					1																	248737412		2152	4300	6452	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737412A>G	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.647T>C	1.37:g.248737412A>G	ENSP00000330904:p.Ile216Thr						p.I216T	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	647	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		216			Helical; Name=5; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.647T>C	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	5.261	0.233528	0.09969	.	.	ENSG00000183310	ENST00000328782	T	0.37584	1.19	2.37	-0.295	0.12828	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25494	0.0620	L	0.33293	1	0.09310	N	1	B	0.12013	0.005	B	0.21360	0.034	T	0.30090	-0.9990	9	0.66056	D	0.02	.	6.439	0.21839	0.7432:0.0:0.2568:0.0	.	216	Q8NGX1	O2T34_HUMAN	T	216	ENSP00000330904:I216T	ENSP00000330904:I216T	I	-	2	0	OR2T34	246804035	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.998000	0.03701	0.084000	0.17077	0.104000	0.15600	ATC		0.572	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		28	100	0	0	0	0.007291	0	28	100				
OR2T27	403239	broad.mit.edu	37	1	248813783	248813783	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:248813783G>C	ENST00000344889.3	-	1	402	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L135V(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGCTCATGAGGACAGGATAG	0.552																																							uc010pzo.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(403-405)CTC>GTC		olfactory receptor, family 2, subfamily T,							87.0	56.0	67.0					1																	248813783		2200	4256	6456	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813783G>C		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.403C>G	1.37:g.248813783G>C	ENSP00000342008:p.Leu135Val						p.L135V	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	403	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	135			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.403C>G	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	4.762	0.141762	0.09083	.	.	ENSG00000187701	ENST00000344889	T	0.00705	5.81	2.74	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31092	N	0.008268	T	0.01353	0.0044	L	0.49126	1.545	0.09310	N	0.999999	D	0.54964	0.969	P	0.48770	0.589	T	0.50634	-0.8805	10	0.59425	D	0.04	.	9.3321	0.38027	0.0:0.0:0.7853:0.2147	.	135	Q8NH04	O2T27_HUMAN	V	135	ENSP00000342008:L135V	ENSP00000342008:L135V	L	-	1	0	OR2T27	246880406	0.000000	0.05858	0.303000	0.25071	0.056000	0.15407	-0.256000	0.08757	1.854000	0.53819	0.194000	0.17425	CTC		0.552	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		23	15	0	0	0	0.008361	0	23	15				
ZNF692	55657	broad.mit.edu	37	1	249144947	249144947	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:249144947C>A	ENST00000306601.4	-	11	1353	c.1187G>T	c.(1186-1188)cGg>cTg	p.R396L	ZNF692_ENST00000451251.1_Missense_Mutation_p.R401L|ZNF692_ENST00000366469.5_Missense_Mutation_p.R395L|ZNF692_ENST00000366471.3_Missense_Mutation_p.R351L|ZNF692_ENST00000427146.1_Missense_Mutation_p.R351L	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R396L(2)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCGGAAAGACCGGGCGCAGAA	0.622																																							uc001ifc.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1186-1188)CGG>CTG		zinc finger protein 692 isoform 2							90.0	85.0	87.0					1																	249144947		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249144947C>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1187G>T	1.37:g.249144947C>A	ENSP00000305483:p.Arg396Leu					ZNF692_uc001iez.1_Missense_Mutation_p.R118L|ZNF692_uc001ifa.1_Missense_Mutation_p.R118L|ZNF692_uc001ifb.1_Missense_Mutation_p.R192L|ZNF692_uc001ifd.1_Missense_Mutation_p.R395L|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.R351L|ZNF692_uc010pzr.1_Missense_Mutation_p.R401L	p.R396L	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		11	1354	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	396			C2H2-type 3.		B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.1187G>T	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417480	0.83449	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	4.54	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.445678	0.19043	N	0.124229	T	0.17704	0.0425	L	0.39692	1.235	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;1.0;0.999	D;D;D;D;D	0.81914	0.995;0.929;0.929;0.995;0.937	T	0.00928	-1.1511	10	0.87932	D	0	-21.3572	8.4027	0.32597	0.0:0.8927:0.0:0.1073	.	401;351;224;396;129	B4DXZ0;Q9BU19-2;Q9BU19-3;Q9BU19;Q59EV5	.;.;.;ZN692_HUMAN;.	L	396;351;224;351;395;401	ENSP00000305483:R396L;ENSP00000390044:R351L;ENSP00000355427:R351L;ENSP00000355425:R395L;ENSP00000391200:R401L	ENSP00000305483:R396L	R	-	2	0	ZNF692	247111570	0.662000	0.27439	0.935000	0.37517	0.985000	0.73830	2.256000	0.43231	1.264000	0.44198	0.462000	0.41574	CGG		0.622	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		15	59	1	0	2.31682e-05	0.003163	2.54658e-05	15	59				
PGBD2	267002	broad.mit.edu	37	1	249210873	249210873	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:249210873G>T	ENST00000329291.5	+	3	237	c.90G>T	c.(88-90)atG>atT	p.M30I	PGBD2_ENST00000539153.1_Missense_Mutation_p.M27I|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	30								p.M30I(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAATGCTATGGAGGAGGAAG	0.478																																							uc001ifh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(88-90)ATG>ATT		hypothetical protein LOC267002 isoform a							81.0	79.0	80.0					1																	249210873		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249210873G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.90G>T	1.37:g.249210873G>T	ENSP00000331643:p.Met30Ile					PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.M27I	p.M30I	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	237	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	30					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.90G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973822	0.34848	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.10382	2.88;2.88	3.26	2.34	0.29019	.	0.347566	0.16230	U	0.223646	T	0.04861	0.0131	N	0.08118	0	0.23848	N	0.996672	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40021	-0.9585	10	0.26408	T	0.33	-3.4063	6.6465	0.22939	0.1319:0.0:0.8681:0.0	.	27;30	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	I	30;27	ENSP00000331643:M30I;ENSP00000439950:M27I	ENSP00000331643:M30I	M	+	3	0	PGBD2	247177496	0.999000	0.42202	0.681000	0.30009	0.938000	0.57974	1.173000	0.31920	0.913000	0.36797	0.655000	0.94253	ATG		0.478	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			8	42	1	0	0.00448238	0.004482	0.00463893	8	42				
KLF6	1316	broad.mit.edu	37	10	3822343	3822343	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:3822343C>G	ENST00000497571.1	-	3	1015	c.755G>C	c.(754-756)cGa>cCa	p.R252P	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	252					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R252P(2)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGTGTGCTTTCGGAAGTGCCT	0.542																																							uc001iha.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|lung(1)	4						c.(754-756)CGA>CCA		Kruppel-like factor 6 isoform A							201.0	154.0	170.0					10																	3822343		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3822343C>G	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.755G>C	10.37:g.3822343C>G	ENSP00000419923:p.Arg252Pro					KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.R210P	p.R252P	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	3	1022	-			252			C2H2-type 2.		B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.755G>C	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348824	0.95807	.	.	ENSG00000067082	ENST00000497571	T	0.25749	1.78	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048699	0.85682	D	0.000000	T	0.61236	0.2331	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68720	-0.5334	10	0.87932	D	0	.	18.7705	0.91890	0.0:1.0:0.0:0.0	.	210;252	D3GC14;Q99612	.;KLF6_HUMAN	P	252	ENSP00000419923:R252P	ENSP00000419923:R252P	R	-	2	0	KLF6	3812343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.702000	0.84576	2.677000	0.91161	0.561000	0.74099	CGA		0.542	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			7	26	0	0	0	0.001984	0	7	26				
USP6NL	9712	broad.mit.edu	37	10	11505373	11505373	+	Silent	SNP	G	G	T	rs367788287		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:11505373G>T	ENST00000609104.1	-	15	1948	c.1554C>A	c.(1552-1554)acC>acA	p.T518T	USP6NL_ENST00000379237.2_Silent_p.T541T|USP6NL_ENST00000277575.5_Silent_p.T535T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	518					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.T535T(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCTGGGACGGTAACTGCGA	0.597																																							uc001ikt.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1552-1554)ACC>ACA		USP6 N-terminal like isoform 1							113.0	115.0	114.0					10																	11505373		2067	4195	6262	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505373G>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1554C>A	10.37:g.11505373G>T						USP6NL_uc001iks.1_Silent_p.T535T	p.T518T	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	1875	-			518					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1554C>A	CCDS53492.1																																																																																				0.597	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		69	76	1	0	6.26901e-30	0.01441	8.7357e-30	69	76				
FRMD4A	55691	broad.mit.edu	37	10	13702486	13702486	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:13702486T>A	ENST00000357447.2	-	20	2096	c.1728A>T	c.(1726-1728)ccA>ccT	p.P576P	FRMD4A_ENST00000358621.4_Silent_p.P561P|FRMD4A_ENST00000378503.1_Silent_p.P576P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	576					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.P576P(2)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTGCGACGGTGGCCGAGGAG	0.562											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001ims.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)|pancreas(1)	3						c.(1726-1728)CCA>CCT		FERM domain containing 4A							120.0	113.0	115.0					10																	13702486		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13702486T>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1728A>T	10.37:g.13702486T>A			OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	689	FRMD4A_uc009xjf.1_Silent_p.P576P	p.P576P	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			20	2080	-			576					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1728A>T	CCDS7101.1																																																																																				0.562	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		38	44	0	0	0	0.003755	0	38	44				
FAM107B	83641	broad.mit.edu	37	10	14563219	14563219	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:14563219G>C	ENST00000378470.1	-	4	652	c.366C>G	c.(364-366)ggC>ggG	p.G122G	FAM107B_ENST00000478076.1_Silent_p.G122G|FAM107B_ENST00000378465.3_Silent_p.G122G|FAM107B_ENST00000468747.1_Silent_p.G122G|FAM107B_ENST00000378467.4_Silent_p.G122G|FAM107B_ENST00000479731.1_Silent_p.G122G|FAM107B_ENST00000496330.1_Silent_p.G122G|FAM107B_ENST00000378458.2_Silent_p.G122G|FAM107B_ENST00000181796.2_Silent_p.G297G|FAM107B_ENST00000378462.1_Silent_p.G122G	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	122					sensory perception of sound (GO:0007605)			p.G297G(2)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGACTTCTTGGCCTGTTCTCC	0.517																																							uc001imx.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(4)	4						c.(364-366)GGC>GGG		hypothetical protein LOC83641							171.0	152.0	159.0					10																	14563219		2203	4300	6503	SO:0001819	synonymous_variant	83641							g.chr10:14563219G>C	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.366C>G	10.37:g.14563219G>C						FAM107B_uc001ina.1_Silent_p.G297G|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Silent_p.G122G|FAM107B_uc001imy.1_Silent_p.G122G|FAM107B_uc001imz.1_Silent_p.G122G	p.G122G	NM_031453	NP_113641	Q9H098	F107B_HUMAN			4	611	-			122					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Silent	SNP	ENST00000378470.1	37	c.366C>G																																																																																					0.517	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		51	79	0	0	0	0.01441	0	51	79				
SUV39H2	79723	broad.mit.edu	37	10	14939210	14939210	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:14939210C>T	ENST00000354919.6	+	3	543	c.543C>T	c.(541-543)atC>atT	p.I181I	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Silent_p.I121I	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	181					cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.I121I(1)|p.I181I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CTCCTGGAATCAGCTTAGTCA	0.363																																							uc001inh.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)	3						c.(361-363)ATC>ATT		suppressor of variegation 3-9 homolog 2							121.0	119.0	119.0					10																	14939210		2203	4300	6503	SO:0001819	synonymous_variant	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939210C>T	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.543C>T	10.37:g.14939210C>T						SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Silent_p.I121I|SUV39H2_uc001inj.2_Silent_p.I121I	p.I121I	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN			2	419	+			181					D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Silent	SNP	ENST00000354919.6	37	c.363C>T	CCDS53494.1																																																																																				0.363	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		13	58	0	0	0	0.013537	0	13	58				
OLAH	55301	broad.mit.edu	37	10	15103747	15103747	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15103747G>T	ENST00000378228.3	+	4	442	c.188G>T	c.(187-189)aGa>aTa	p.R63I	OLAH_ENST00000378217.3_Missense_Mutation_p.R116I	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	63					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)	p.R116I(2)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTTCCTGGAAGAGAAAGCAGA	0.423																																							uc001inu.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(187-189)AGA>ATA		oleoyl-ACP hydrolase isoform 2							115.0	110.0	112.0					10																	15103747		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103747G>T	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.188G>T	10.37:g.15103747G>T	ENSP00000367473:p.Arg63Ile					ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.R116I	p.R63I	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN			4	442	+			63					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.188G>T	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	g	15.74	2.921741	0.52653	.	.	ENSG00000152463	ENST00000428897;ENST00000429028;ENST00000378228;ENST00000378225;ENST00000378217	.	.	.	5.07	3.2	0.36748	Thioesterase (1);	0.000000	0.85682	D	0.000000	D	0.82549	0.5061	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.962	T	0.83011	-0.0172	9	0.87932	D	0	-21.7904	8.5773	0.33605	0.0853:0.1542:0.7605:0.0	.	63;116	Q9NV23;Q9NV23-2	SAST_HUMAN;.	I	63;63;63;84;116	.	ENSP00000367462:R116I	R	+	2	0	OLAH	15143753	1.000000	0.71417	0.991000	0.47740	0.333000	0.28666	4.713000	0.61895	0.532000	0.28657	-0.145000	0.13849	AGA		0.423	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		17	23	1	0	2.23348e-06	0.004007	2.53163e-06	17	23				
C10orf111	221060	broad.mit.edu	37	10	15138469	15138469	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15138469G>A	ENST00000378207.3	-	2	628	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	RPP38_ENST00000378197.4_5'Flank|RPP38_ENST00000378202.5_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	119						integral component of membrane (GO:0016021)		p.L119F(2)		lung(5)|upper_aerodigestive_tract(1)	6						GCGGGGAGAAGGAGGAGGCTC	0.478																																							uc001inw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(355-357)CTT>TTT		hypothetical protein LOC221060							94.0	95.0	95.0					10																	15138469		2203	4300	6503	SO:0001583	missense	221060					integral to membrane		g.chr10:15138469G>A	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.355C>T	10.37:g.15138469G>A	ENSP00000367449:p.Leu119Phe					RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank	p.L119F	NM_153244	NP_694976	Q8N326	CJ111_HUMAN			2	629	-			119			Helical; (Potential).		B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	c.355C>T	CCDS7107.1	.	.	.	.	.	.	.	.	.	.	G	9.099	1.003753	0.19199	.	.	ENSG00000176236	ENST00000378207	T	0.57436	0.4	2.91	-1.5	0.08691	.	.	.	.	.	T	0.28433	0.0703	N	0.08118	0	0.09310	N	1	P	0.45078	0.85	B	0.43274	0.414	T	0.16424	-1.0403	9	0.87932	D	0	.	2.1944	0.03907	0.1191:0.3587:0.3393:0.1828	.	119	Q8N326	CJ111_HUMAN	F	119	ENSP00000367449:L119F	ENSP00000367449:L119F	L	-	1	0	C10orf111	15178475	0.025000	0.19082	0.000000	0.03702	0.006000	0.05464	2.100000	0.41777	-0.330000	0.08514	0.407000	0.27541	CTT		0.478	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		26	30	0	0	0	0.003954	0	26	30				
NMT2	9397	broad.mit.edu	37	10	15210517	15210517	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15210517G>C	ENST00000378165.4	-	1	175	c.95C>G	c.(94-96)aCg>aGg	p.T32R	NMT2_ENST00000378150.1_Missense_Mutation_p.R5G|NMT2_ENST00000535341.1_5'Flank	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	32					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.T32R(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GGCGTGCTCCGTCTCCTCCTC	0.726																																					Melanoma(117;1345 1645 4130 12688 30625)	Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)ACG>AGG		N-myristoyltransferase 2							75.0	74.0	75.0					10																	15210517		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15210517G>C	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.95C>G	10.37:g.15210517G>C	ENSP00000367407:p.Thr32Arg					NMT2_uc001ioa.1_Missense_Mutation_p.R5G|NMT2_uc009xjo.1_Missense_Mutation_p.T32R	p.T32R	NM_004808	NP_004799	O60551	NMT2_HUMAN			1	179	-			32					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.95C>G	CCDS7109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.480|3.480	-0.106162|-0.106162	0.06924|0.06924	.|.	.|.	ENSG00000152465|ENSG00000152465	ENST00000378150|ENST00000378165;ENST00000378143	.|T	.|0.43688	.|0.94	2.62|2.62	0.635|0.635	0.17723|0.17723	.|.	.|0.448880	.|0.22969	.|U	.|0.053443	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|B;B	0.10296|0.13594	0.003|0.008;0.0	B|B;B	0.09377|0.11329	0.004|0.006;0.0	T|T	0.06215|0.06215	-1.0839|-1.0839	8|10	0.30078|0.22109	T|T	0.28|0.4	.|.	8.5295|8.5295	0.33326|0.33326	0.2111:0.0:0.7889:0.0|0.2111:0.0:0.7889:0.0	.|.	5|32;32	Q5VUC6|B2RCF3;O60551	.|.;NMT2_HUMAN	G|R	5|32	.|ENSP00000367407:T32R	ENSP00000367392:R5G|ENSP00000367385:T32R	R|T	-|-	1|2	2|0	NMT2|NMT2	15250523|15250523	1.000000|1.000000	0.71417|0.71417	0.017000|0.017000	0.16124|0.16124	0.027000|0.027000	0.11550|0.11550	3.836000|3.836000	0.55813|0.55813	-0.010000|-0.010000	0.14271|0.14271	-0.924000|-0.924000	0.02725|0.02725	CGG|ACG		0.726	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		9	68	0	0	0	0.008291	0	9	68				
ITGA8	8516	broad.mit.edu	37	10	15760843	15760843	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:15760843C>T	ENST00000378076.3	-	2	618	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	89					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.E89K(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTCCCCCTTCCACGATATCG	0.567																																							uc001ioc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(265-267)GAA>AAA		integrin, alpha 8 precursor							111.0	97.0	102.0					10																	15760843		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15760843C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.265G>A	10.37:g.15760843C>T	ENSP00000367316:p.Glu89Lys					ITGA8_uc010qcb.1_Missense_Mutation_p.E89K	p.E89K	NM_003638	NP_003629	P53708	ITA8_HUMAN			2	265	-			89			Extracellular (Potential).|FG-GAP 1.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.265G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169303	0.94768	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.90563	-2.69	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	M	0.70903	2.155	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.993	D	0.92552	0.6051	10	0.22706	T	0.39	.	18.029	0.89277	0.0:1.0:0.0:0.0	.	89;89	F5H818;P53708	.;ITA8_HUMAN	K	89	ENSP00000367316:E89K	ENSP00000367316:E89K	E	-	1	0	ITGA8	15800849	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.253000	0.78320	2.492000	0.84095	0.561000	0.74099	GAA		0.567	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		21	102	0	0	0	0.014323	0	21	102				
ST8SIA6	338596	broad.mit.edu	37	10	17495561	17495561	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:17495561T>A	ENST00000377602.4	-	2	271	c.197A>T	c.(196-198)aAc>aTc	p.N66I		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	66					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GCTGTACCTGTTAGTGGCGCG	0.731																																							uc001ipd.2		NA																	0				ovary(1)	1						c.(196-198)AAC>ATC		ST8 alpha-N-acetyl-neuraminide							4.0	6.0	6.0					10																	17495561		2057	4132	6189	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17495561T>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.197A>T	10.37:g.17495561T>A	ENSP00000366827:p.Asn66Ile					ST8SIA6_uc010qce.1_RNA	p.N66I	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			2	197	-			66			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.197A>T	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961609	0.53400	.	.	ENSG00000148488	ENST00000377602	T	0.28666	1.6	4.51	3.35	0.38373	.	0.000000	0.43579	D	0.000544	T	0.27663	0.0680	L	0.59436	1.845	0.39890	D	0.973753	B	0.17038	0.02	B	0.20767	0.031	T	0.08764	-1.0706	10	0.39692	T	0.17	.	7.3903	0.26905	0.1939:0.0:0.0:0.8061	.	66	P61647	SIA8F_HUMAN	I	66	ENSP00000366827:N66I	ENSP00000366827:N66I	N	-	2	0	ST8SIA6	17535567	0.999000	0.42202	0.963000	0.40424	0.055000	0.15305	1.176000	0.31957	0.835000	0.34877	-0.412000	0.06146	AAC		0.731	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		3	11	0	0	0	0.004672	0	3	11				
GPR158	57512	broad.mit.edu	37	10	25861687	25861687	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:25861687A>C	ENST00000376351.3	+	7	1983	c.1624A>C	c.(1624-1626)Att>Ctt	p.I542L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	542					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I542L(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGTTTCTCATTGGCTGGAC	0.453																																							uc001isj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1624-1626)ATT>CTT		G protein-coupled receptor 158 precursor							236.0	165.0	189.0					10																	25861687		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25861687A>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1624A>C	10.37:g.25861687A>C	ENSP00000365529:p.Ile542Leu						p.I542L	NM_020752	NP_065803	Q5T848	GP158_HUMAN			7	1684	+			542			Helical; Name=4; (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1624A>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795694	0.50208	.	.	ENSG00000151025	ENST00000376351	D	0.87491	-2.26	5.78	-6.33	0.01988	GPCR, family 3, C-terminal (2);	0.834972	0.10505	N	0.666830	T	0.77177	0.4092	L	0.27053	0.805	0.09310	N	0.999998	B	0.14438	0.01	B	0.19666	0.026	T	0.56559	-0.7959	10	0.22109	T	0.4	.	16.1337	0.81465	0.6854:0.0:0.3146:0.0	.	542	Q5T848	GP158_HUMAN	L	542	ENSP00000365529:I542L	ENSP00000365529:I542L	I	+	1	0	GPR158	25901693	0.005000	0.15991	0.006000	0.13384	0.998000	0.95712	0.177000	0.16801	-1.098000	0.03038	0.455000	0.32223	ATT		0.453	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		14	29	0	0	0	0.00245	0	14	29				
GPR158	57512	broad.mit.edu	37	10	25887236	25887236	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:25887236C>A	ENST00000376351.3	+	11	3040	c.2681C>A	c.(2680-2682)cCa>cAa	p.P894Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	894					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P894Q(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTGGGCACCCACGAACATCG	0.517																																							uc001isj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2680-2682)CCA>CAA		G protein-coupled receptor 158 precursor							107.0	108.0	108.0					10																	25887236		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887236C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2681C>A	10.37:g.25887236C>A	ENSP00000365529:p.Pro894Gln					GPR158_uc001isk.2_Missense_Mutation_p.P269Q	p.P894Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2741	+			894			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2681C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005543	0.54254	.	.	ENSG00000151025	ENST00000376351	T	0.62498	0.02	5.52	5.52	0.82312	.	0.090261	0.47455	D	0.000236	T	0.71074	0.3297	L	0.56769	1.78	0.48632	D	0.999681	P	0.42248	0.774	P	0.49708	0.62	T	0.72027	-0.4414	10	0.56958	D	0.05	.	19.4412	0.94821	0.0:1.0:0.0:0.0	.	894	Q5T848	GP158_HUMAN	Q	894	ENSP00000365529:P894Q	ENSP00000365529:P894Q	P	+	2	0	GPR158	25927242	0.963000	0.33076	0.838000	0.33150	0.355000	0.29361	2.970000	0.49240	2.583000	0.87209	0.650000	0.86243	CCA		0.517	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		21	88	1	0	4.96729e-08	0.008871	5.87338e-08	21	88				
LYZL2	119180	broad.mit.edu	37	10	30918542	30918542	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:30918542G>T	ENST00000375318.2	-	1	149	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.G31G(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GATTCCTGGTGCCTGCCGCAG	0.517																																							uc001ivk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)GGC>GGA		lysozyme-like 2							76.0	69.0	71.0					10																	30918542		2203	4300	6503	SO:0001819	synonymous_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30918542G>T	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.93C>A	10.37:g.30918542G>T							p.G31G	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			1	106	-		Prostate(175;0.151)	Error:Variant_position_missing_in_Q7Z4W2_after_alignment					Q6NZ69	Silent	SNP	ENST00000375318.2	37	c.93C>A	CCDS7167.2																																																																																				0.517	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		11	32	1	0	3.86212e-05	0.008291	4.21639e-05	11	32				
SVILP1	645954	broad.mit.edu	37	10	30998254	30998254	+	IGR	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:30998254G>T								SVILP1 (10862 upstream) : RP11-14C22.6 (13925 downstream)																							TTCGCGCCCCGCCTGTTCGTC	0.507																																							uc010qdx.1		NA																	0					NA						c.(799-801)CGC>CTC		SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																																				SO:0001628	intergenic_variant	0							g.chr10:30998254G>T																													10.37:g.30998254G>T							p.R267L							8	1342	+									Missense_Mutation	SNP		37	c.800G>T																																																																																				0	0.507									8	20	1	0	7.48243e-07	0.006214	8.60894e-07	8	20				
ARHGAP12	94134	broad.mit.edu	37	10	32103262	32103262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:32103262C>A	ENST00000344936.2	-	14	1993	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	ARHGAP12_ENST00000375250.5_Nonsense_Mutation_p.E557*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E535*|ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E535*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E582*|ARHGAP12_ENST00000492028.1_5'UTR	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	587					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.E587*(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTATCTCCTCTTCAATTCCT	0.363																																							uc001ivz.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1759-1761)GAG>TAG		Rho GTPase activating protein 12							285.0	281.0	282.0					10																	32103262		2203	4300	6503	SO:0001587	stop_gained	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32103262C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1759G>T	10.37:g.32103262C>A	ENSP00000345808:p.Glu587*					ARHGAP12_uc001ivy.1_Nonsense_Mutation_p.E533*|ARHGAP12_uc009xls.2_Nonsense_Mutation_p.E538*|ARHGAP12_uc001iwb.1_Nonsense_Mutation_p.E580*|ARHGAP12_uc001iwc.1_Nonsense_Mutation_p.E555*|ARHGAP12_uc009xlq.1_Nonsense_Mutation_p.E508*|ARHGAP12_uc001iwd.1_Nonsense_Mutation_p.E555*|ARHGAP12_uc009xlr.1_Nonsense_Mutation_p.E585*	p.E587*	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			14	2029	-		Prostate(175;0.0199)	587					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Nonsense_Mutation	SNP	ENST00000344936.2	37	c.1759G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	39	7.783264	0.98486	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	.	.	.	5.57	4.67	0.58626	.	0.098514	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	13.2333	0.59955	0.0:0.9259:0.0:0.0741	.	.	.	.	X	535;557;587;582;535	.	ENSP00000310984:E535X	E	-	1	0	ARHGAP12	32143268	1.000000	0.71417	0.992000	0.48379	0.370000	0.29829	6.332000	0.72934	1.482000	0.48325	0.650000	0.86243	GAG		0.363	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			29	68	1	0	5.60225e-13	0.009535	7.14804e-13	29	68				
ZNF248	57209	broad.mit.edu	37	10	38126615	38126615	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:38126615C>T	ENST00000395867.3	-	5	718	c.168G>A	c.(166-168)gtG>gtA	p.V56V	ZNF248_ENST00000357328.4_Silent_p.V56V|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_Silent_p.V56V	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V56V(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCTTAAAGATCACTTCTGGTT	0.438																																							uc001izd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(166-168)GTG>GTA		zinc finger protein 248							97.0	86.0	90.0					10																	38126615		2203	4300	6503	SO:0001819	synonymous_variant	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38126615C>T	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.168G>A	10.37:g.38126615C>T						ZNF248_uc009xmc.2_Silent_p.V56V|ZNF248_uc001izb.2_RNA|ZNF248_uc001izc.2_Silent_p.V56V|ZNF248_uc010qeu.1_Silent_p.V56V	p.V56V	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			5	667	-			56			KRAB.		Q8NDV8|Q9UMP3	Silent	SNP	ENST00000395867.3	37	c.168G>A	CCDS7194.1																																																																																				0.438	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		5	40	0	0	0	0.000602	0	5	40				
BMS1	9790	broad.mit.edu	37	10	43292056	43292056	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:43292056G>T	ENST00000374518.5	+	10	1427	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	455					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.G455V(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGATGACGGGTTGGAAAAC	0.438																																							uc001jaj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1363-1365)GGG>GTG		BMS1-like, ribosome assembly protein							224.0	205.0	212.0					10																	43292056		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292056G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1364G>T	10.37:g.43292056G>T	ENSP00000363642:p.Gly455Val						p.G455V	NM_014753	NP_055568	Q14692	BMS1_HUMAN			10	1722	+			455					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.1364G>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	0.081	-1.184232	0.01620	.	.	ENSG00000165733	ENST00000374518	T	0.26067	1.76	4.36	-0.0113	0.13993	.	1.517730	0.03224	N	0.177948	T	0.20373	0.0490	L	0.36672	1.1	0.22754	N	0.998774	B	0.09022	0.002	B	0.04013	0.001	T	0.19031	-1.0318	10	0.30854	T	0.27	.	5.5376	0.17020	0.3133:0.1328:0.554:0.0	.	455	Q14692	BMS1_HUMAN	V	455	ENSP00000363642:G455V	ENSP00000363642:G455V	G	+	2	0	BMS1	42612062	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.031000	0.13710	0.086000	0.17137	-0.196000	0.12772	GGG		0.438	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		7	31	1	0	0.00198382	0.001984	0.00206488	7	31				
GDF2	2658	broad.mit.edu	37	10	48414052	48414052	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:48414052C>G	ENST00000249598.1	-	2	975	c.816G>C	c.(814-816)ctG>ctC	p.L272L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	272					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						TCATCTCCCTCAGCTCCAGCC	0.572																																							uc001jfa.1		NA																	0				ovary(2)|skin(1)	3						c.(814-816)CTG>CTC		growth differentiation factor 2 precursor							94.0	78.0	83.0					10																	48414052		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.chr10:48414052C>G	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.816G>C	10.37:g.48414052C>G							p.L272L	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	979	-			272					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.816G>C	CCDS7219.1																																																																																				0.572	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		9	63	0	0	0	0.004482	0	9	63				
GDF10	2662	broad.mit.edu	37	10	48428803	48428803	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:48428803C>T	ENST00000224605.2	-	2	1348	c.1083G>A	c.(1081-1083)acG>acA	p.T361T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	361					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.T361T(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTTTCTGCATCGTCTTCTCGT	0.612																																							uc001jfb.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)|central_nervous_system(1)	2						c.(1081-1083)ACG>ACA		growth differentiation factor 10 precursor							94.0	80.0	85.0					10																	48428803		2203	4300	6503	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428803C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1083G>A	10.37:g.48428803C>T						GDF10_uc009xnp.2_Silent_p.T360T|GDF10_uc009xnq.1_Silent_p.T361T	p.T361T	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1539	-			361					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.1083G>A	CCDS7220.1																																																																																				0.612	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		14	50	0	0	0	0.003163	0	14	50				
ERCC6	2074	broad.mit.edu	37	10	50679084	50679084	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:50679084C>G	ENST00000355832.5	-	17	3085	c.3007G>C	c.(3007-3009)Gag>Cag	p.E1003Q	ERCC6_ENST00000542458.1_Missense_Mutation_p.E373Q|ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1003					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.E1003Q(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTAAATAGCTCATAGAGATCA	0.313								Direct reversal of damage;Nucleotide excision repair (NER)																															uc001jhs.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(3007-3009)GAG>CAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							193.0	213.0	206.0					10																	50679084		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50679084C>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3007G>C	10.37:g.50679084C>G	ENSP00000348089:p.Glu1003Gln					ERCC6_uc009xod.2_Missense_Mutation_p.E163Q|ERCC6_uc010qgr.1_Missense_Mutation_p.E373Q|ERCC6_uc001jhr.3_Missense_Mutation_p.E371Q	p.E1003Q	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			17	3161	-			1003					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3007G>C	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224179	0.95139	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	T;T	0.77489	-1.1;-1.1	5.8	5.8	0.92144	.	.	.	.	.	D	0.86297	0.5899	L	0.51422	1.61	0.80722	D	1	D;P	0.89917	1.0;0.946	D;P	0.87578	0.998;0.825	D	0.86295	0.1676	9	0.66056	D	0.02	-35.7534	20.063	0.97692	0.0:1.0:0.0:0.0	.	1003;380	Q03468;Q59FF6	ERCC6_HUMAN;.	Q	1003;380;373	ENSP00000348089:E1003Q;ENSP00000445134:E373Q	ENSP00000348089:E1003Q	E	-	1	0	ERCC6	50349090	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.735000	0.93741	0.655000	0.94253	GAG		0.313	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		11	68	0	0	0	0.010729	0	11	68				
BICC1	80114	broad.mit.edu	37	10	60566883	60566883	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:60566883G>T	ENST00000373886.3	+	17	2345	c.2341G>T	c.(2341-2343)Gtg>Ttg	p.V781L	BICC1_ENST00000263103.1_Missense_Mutation_p.V407L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	781					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V781L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGCCAATCATGTGTCCTATAA	0.468																																							uc001jki.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(2341-2343)GTG>TTG		bicaudal C homolog 1							143.0	126.0	132.0					10																	60566883		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60566883G>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2341G>T	10.37:g.60566883G>T	ENSP00000362993:p.Val781Leu					BICC1_uc001jkj.1_Missense_Mutation_p.V422L	p.V781L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			17	2341	+			781						Missense_Mutation	SNP	ENST00000373886.3	37	c.2341G>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616951	0.66672	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.47528	1.66;0.84	5.58	5.58	0.84498	.	0.055256	0.64402	D	0.000001	T	0.60051	0.2239	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.62365	0.991;0.983	P;P	0.57425	0.82;0.672	T	0.55049	-0.8201	10	0.36615	T	0.2	-14.2686	19.5758	0.95444	0.0:0.0:1.0:0.0	.	701;781	E7EU62;Q9H694	.;BICC1_HUMAN	L	781;407	ENSP00000362993:V781L;ENSP00000263103:V407L	ENSP00000263103:V407L	V	+	1	0	BICC1	60236889	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	9.685000	0.98661	2.632000	0.89209	0.655000	0.94253	GTG		0.468	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		32	66	1	0	4.74835e-14	0.010818	6.15041e-14	32	66				
FAM13C	220965	broad.mit.edu	37	10	61028318	61028318	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:61028318A>G	ENST00000373868.2	-	8	1024	c.937T>C	c.(937-939)Tac>Cac	p.Y313H	FAM13C_ENST00000435852.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000419214.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000422313.2_Missense_Mutation_p.Y313H|FAM13C_ENST00000373867.3_Missense_Mutation_p.Y230H|FAM13C_ENST00000442566.3_Missense_Mutation_p.Y334H|FAM13C_ENST00000277705.6_Missense_Mutation_p.Y334H|FAM13C_ENST00000468840.2_Missense_Mutation_p.Y230H	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	313								p.Y313H(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTACCCGGTATTTCTTTTCT	0.493																																							uc001jkn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(937-939)TAC>CAC		hypothetical protein LOC220965 isoform 1							98.0	99.0	99.0					10																	61028318		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61028318A>G	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.937T>C	10.37:g.61028318A>G	ENSP00000362975:p.Tyr313His					FAM13C_uc001jko.2_Missense_Mutation_p.Y313H|FAM13C_uc010qid.1_Missense_Mutation_p.Y230H|FAM13C_uc010qie.1_Missense_Mutation_p.Y230H|FAM13C_uc010qif.1_Missense_Mutation_p.Y335H|FAM13C_uc001jkp.2_Missense_Mutation_p.Y230H	p.Y313H	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			9	1071	-			313					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.937T>C	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.729976	0.89390	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;0.64;-1.09;-1.09;-1.09;-1.09	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.88731	0.6516	M	0.81802	2.56	0.52501	D	0.999957	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999	D	0.89301	0.3626	10	0.56958	D	0.05	-15.9485	16.8222	0.85835	1.0:0.0:0.0:0.0	.	313;230;313;313;313	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	H	230;313;334;334;313;230;313;313;91	ENSP00000362974:Y230H;ENSP00000362975:Y313H;ENSP00000395661:Y334H;ENSP00000277705:Y334H;ENSP00000391993:Y313H;ENSP00000423896:Y230H;ENSP00000392302:Y313H;ENSP00000400241:Y313H;ENSP00000445068:Y91H	ENSP00000277705:Y334H	Y	-	1	0	FAM13C	60698324	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	8.207000	0.89746	2.371000	0.80710	0.533000	0.62120	TAC		0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			18	31	0	0	0	0.007413	0	18	31				
CCDC6	8030	broad.mit.edu	37	10	61554281	61554281	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:61554281T>A	ENST00000263102.6	-	8	1411	c.1180A>T	c.(1180-1182)Aat>Tat	p.N394Y		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	394						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)	p.N394Y(2)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCCGGGGAATTGTAATAAGAC	0.448			T	RET	NSCLC																																		uc001jks.3		NA		Dom	yes		10	10q21	8030		coiled-coil domain containing 6			E					2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(1180-1182)AAT>TAT		coiled-coil domain containing 6							140.0	121.0	127.0					10																	61554281		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61554281T>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1180A>T	10.37:g.61554281T>A	ENSP00000263102:p.Asn394Tyr						p.N394Y	NM_005436	NP_005427	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	8	1816	-			394					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.1180A>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554192	0.86231	.	.	ENSG00000108091	ENST00000263102	T	0.48201	0.82	5.01	5.01	0.66863	.	0.040380	0.85682	D	0.000000	T	0.40862	0.1134	L	0.44542	1.39	0.80722	D	1	P	0.47350	0.894	B	0.38562	0.276	T	0.44221	-0.9342	10	0.52906	T	0.07	-9.4513	15.438	0.75162	0.0:0.0:0.0:1.0	.	394	Q16204	CCDC6_HUMAN	Y	394	ENSP00000263102:N394Y	ENSP00000263102:N394Y	N	-	1	0	CCDC6	61224287	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.594000	0.82698	2.198000	0.70561	0.533000	0.62120	AAT		0.448	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		24	32	0	0	0	0.00278	0	24	32				
REEP3	221035	broad.mit.edu	37	10	65357812	65357812	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:65357812G>A	ENST00000373758.4	+	4	394	c.211G>A	c.(211-213)Gct>Act	p.A71T	REEP3_ENST00000298249.4_Missense_Mutation_p.A56T	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	71					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)		p.A71T(2)		endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGAAGATTGCTTTTGTCAT	0.348																																							uc001jmt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(211-213)GCT>ACT		receptor accessory protein 3							89.0	86.0	87.0					10																	65357812		1801	4074	5875	SO:0001583	missense	221035					integral to membrane		g.chr10:65357812G>A	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.211G>A	10.37:g.65357812G>A	ENSP00000362863:p.Ala71Thr					REEP3_uc009xpl.1_Missense_Mutation_p.A71T	p.A71T	NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN			4	394	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		71			Helical; (Potential).		Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	ENST00000373758.4	37	c.211G>A	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449804	0.96205	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.93019	-3.15;-3.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.89658	3.05	0.80722	D	1	P;D	0.89917	0.749;1.0	P;D	0.91635	0.511;0.999	D	0.97622	1.0136	10	0.66056	D	0.02	.	19.07	0.93130	0.0:0.0:1.0:0.0	.	71;71	Q6NUK4-2;Q6NUK4	.;REEP3_HUMAN	T	71;56;73	ENSP00000362863:A71T;ENSP00000298249:A56T	ENSP00000298249:A56T	A	+	1	0	REEP3	65027818	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GCT		0.348	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330		17	39	0	0	0	0.007413	0	17	39				
CTNNA3	29119	broad.mit.edu	37	10	67829219	67829219	+	Missense_Mutation	SNP	T	T	A	rs377166040		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:67829219T>A	ENST00000433211.2	-	15	2180	c.2006A>T	c.(2005-2007)gAa>gTa	p.E669V	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E669V	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.E669V(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTTTCTTTTTCTGCCTCAGG	0.348																																							uc009xpn.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2005-2007)GAA>GTA		catenin, alpha 3		T	VAL/GLU,VAL/GLU	1,4405	2.1+/-5.4	0,1,2202	167.0	147.0	154.0		2006,2006	5.3	1.0	10		154	0,8600		0,0,4300	no	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	121,121	0,1,6502	AA,AT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	669/896,669/896	67829219	1,13005	2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67829219T>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2006A>T	10.37:g.67829219T>A	ENSP00000389714:p.Glu669Val					CTNNA3_uc001jmw.2_Missense_Mutation_p.E669V	p.E669V	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			15	2129	-			669						Missense_Mutation	SNP	ENST00000433211.2	37	c.2006A>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149166	0.78001	2.27E-4	0.0	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.59772	0.24;0.24;0.24	5.29	5.29	0.74685	.	0.000000	0.52532	D	0.000066	T	0.68339	0.2990	M	0.62723	1.935	0.80722	D	1	D	0.58268	0.982	P	0.57425	0.82	T	0.72404	-0.4304	10	0.87932	D	0	-20.1657	13.1756	0.59624	0.0:0.0:0.0:1.0	.	669	Q9UI47	CTNA3_HUMAN	V	669;669;8	ENSP00000389714:E669V;ENSP00000362849:E669V;ENSP00000362840:E8V	ENSP00000362840:E8V	E	-	2	0	CTNNA3	67499225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.743000	0.85020	2.009000	0.58944	0.482000	0.46254	GAA		0.348	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		9	32	0	0	0	0.004482	0	9	32				
SIRT1	23411	broad.mit.edu	37	10	69651262	69651262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:69651262G>C	ENST00000212015.6	+	4	945	c.892G>C	c.(892-894)Gat>Cat	p.D298H	SIRT1_ENST00000432464.1_Missense_Mutation_p.D3H|SIRT1_ENST00000406900.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	298	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D298H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGCGATGTTTGATATTGAATA	0.403																																							uc001jnd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(892-894)GAT>CAT		sirtuin 1 isoform a							225.0	231.0	229.0					10																	69651262		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69651262G>C	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.892G>C	10.37:g.69651262G>C	ENSP00000212015:p.Asp298His					SIRT1_uc010qis.1_Missense_Mutation_p.D3H|SIRT1_uc009xpp.2_Missense_Mutation_p.D106H|SIRT1_uc001jne.2_5'UTR	p.D298H	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN			4	945	+			298			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.892G>C	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804096	0.90623	.	.	ENSG00000096717	ENST00000212015;ENST00000432464	T;T	0.20598	2.06;2.06	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56420	-0.7982	10	0.72032	D	0.01	-19.5988	17.7449	0.88418	0.0:0.0:1.0:0.0	.	298	Q96EB6	SIRT1_HUMAN	H	298;3	ENSP00000212015:D298H;ENSP00000409208:D3H	ENSP00000212015:D298H	D	+	1	0	SIRT1	69321268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.222000	0.95196	2.495000	0.84180	0.557000	0.71058	GAT		0.403	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			24	133	0	0	0	0.00333	0	24	133				
TET1	80312	broad.mit.edu	37	10	70406705	70406705	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:70406705A>G	ENST00000373644.4	+	4	4428	c.4219A>G	c.(4219-4221)Aca>Gca	p.T1407A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1407					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.T1407A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACTAACCCTACAAAAAACCT	0.388																																							uc001jok.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(4219-4221)ACA>GCA		CXXC finger 6							66.0	67.0	66.0					10																	70406705		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70406705A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4219A>G	10.37:g.70406705A>G	ENSP00000362748:p.Thr1407Ala						p.T1407A	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	4724	+			1407					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4219A>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589579	0.28357	.	.	ENSG00000138336	ENST00000373644	T	0.08370	3.1	5.22	2.93	0.34026	.	0.966205	0.08501	N	0.936454	T	0.07413	0.0187	L	0.29908	0.895	0.22728	N	0.9988	B	0.13145	0.007	B	0.14023	0.01	T	0.40098	-0.9581	10	0.44086	T	0.13	.	7.0134	0.24875	0.8311:0.0:0.1689:0.0	.	1407	Q8NFU7	TET1_HUMAN	A	1407	ENSP00000362748:T1407A	ENSP00000362748:T1407A	T	+	1	0	TET1	70076711	0.992000	0.36948	0.568000	0.28447	0.955000	0.61496	2.412000	0.44609	0.347000	0.23924	0.455000	0.32223	ACA		0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		9	36	0	0	0	0.006214	0	9	36				
DDX50	79009	broad.mit.edu	37	10	70706206	70706206	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:70706206G>A	ENST00000373585.3	+	15	2141	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	678	Arg-rich.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATTCCAGACAGAGGAGTGGCT	0.522																																							uc001jou.2		NA																	0				ovary(1)	1						c.(2032-2034)CAG>CAA		nucleolar protein GU2							44.0	44.0	44.0					10																	70706206		2203	4300	6503	SO:0001819	synonymous_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70706206G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2034G>A	10.37:g.70706206G>A						DDX50_uc010qjc.1_Intron	p.Q678Q	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN			15	2141	+			678			Arg-rich.		Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	ENST00000373585.3	37	c.2034G>A	CCDS7283.1																																																																																				0.522	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		3	45	0	0	0	0.001984	0	3	45				
HK1	3098	broad.mit.edu	37	10	71048521	71048521	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:71048521G>A	ENST00000448642.2	+	4	411	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	HK1_ENST00000360289.2_5'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.E8K			P19367	HXK1_HUMAN	hexokinase 1	0	Hydrophobic.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.E8K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGCCAGCGAGAATCGGTAAG	0.512																																							uc001jpj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(22-24)GAA>AAA		hexokinase 1 isoform HKI-td							87.0	76.0	80.0					10																	71048521		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71048521G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000448642.2:c.22G>A	10.37:g.71048521G>A	ENSP00000402103:p.Glu8Lys					HK1_uc009xqc.1_Missense_Mutation_p.E8K|HK1_uc001jpg.3_5'UTR|HK1_uc001jph.3_Missense_Mutation_p.E8K|HK1_uc001jpi.3_Missense_Mutation_p.E8K	p.E8K	NM_033500	NP_277035	P19367	HXK1_HUMAN			4	416	+			Error:Variant_position_missing_in_P19367_after_alignment					E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000448642.2	37	c.22G>A		.	.	.	.	.	.	.	.	.	.	G	13.91	2.379008	0.42207	.	.	ENSG00000156515	ENST00000450646;ENST00000448642;ENST00000404387	D;D;D	0.97404	-4.16;-4.37;-4.34	3.89	1.98	0.26296	.	0.928122	0.09199	N	0.834988	D	0.87939	0.6304	N	0.01352	-0.895	0.09310	N	1	P;B;B	0.36837	0.571;0.009;0.007	B;B;B	0.38712	0.28;0.003;0.01	D	0.83901	0.0290	10	0.18276	T	0.48	.	5.7546	0.18166	0.1091:0.1968:0.6941:0.0	.	8;8;8	Q99609;E7ENR4;P19367-3	.;.;.	K	8	ENSP00000409761:E8K;ENSP00000402103:E8K;ENSP00000384774:E8K	ENSP00000384774:E8K	E	+	1	0	HK1	70718527	0.397000	0.25270	0.014000	0.15608	0.213000	0.24496	1.341000	0.33907	0.587000	0.29643	-0.226000	0.12346	GAA		0.512	HK1-204	KNOWN	basic	protein_coding	protein_coding		NM_000188		4	35	0	0	0	0.000602	0	4	35				
NEUROG3	50674	broad.mit.edu	37	10	71332433	71332433	+	Missense_Mutation	SNP	C	C	G	rs140128333		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:71332433C>G	ENST00000242462.4	-	2	396	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	123	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|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 dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.E123Q(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCAGCGTCTCGATCTTGGTG	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16707	0.0		0.0	False		,,,				2504	0.0						uc001jpp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GAG>CAG		neurogenin 3		C	GLN/GLU	0,4406		0,0,2203	87.0	71.0	77.0		367	4.6	1.0	10	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	missense	NEUROG3	NM_020999.3	29	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	123/215	71332433	2,13004	2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332433C>G	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.367G>C	10.37:g.71332433C>G	ENSP00000242462:p.Glu123Gln						p.E123Q	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	525	-			123			Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.367G>C	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784464	0.70222	0.0	2.33E-4	ENSG00000122859	ENST00000242462	D	0.98075	-4.7	4.62	4.62	0.57501	Helix-loop-helix DNA-binding (5);	0.000000	0.41396	D	0.000881	D	0.98451	0.9484	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99201	1.0873	10	0.59425	D	0.04	-24.1568	16.1999	0.82063	0.0:1.0:0.0:0.0	.	123	Q9Y4Z2	NGN3_HUMAN	Q	123	ENSP00000242462:E123Q	ENSP00000242462:E123Q	E	-	1	0	NEUROG3	71002439	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	7.516000	0.81772	2.355000	0.79922	0.655000	0.94253	GAG		0.652	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		5	42	0	0	0	0.000602	0	5	42				
PALD1	27143	broad.mit.edu	37	10	72292391	72292391	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:72292391C>A	ENST00000263563.6	+	6	916	c.648C>A	c.(646-648)gcC>gcA	p.A216A		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	216						cytosol (GO:0005829)		p.A216A(1)									ACGACTTTGCCCAGCTGAGCG	0.587																																							uc001jrd.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(646-648)GCC>GCA		KIAA1274							124.0	109.0	114.0					10																	72292391		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72292391C>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.648C>A	10.37:g.72292391C>A							p.A216A	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			6	929	+			216					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.648C>A	CCDS31215.1																																																																																				0.587	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		22	118	1	0	1.50039e-11	0.012319	1.88132e-11	22	118				
TBATA	219793	broad.mit.edu	37	10	72541683	72541683	+	Silent	SNP	G	G	T	rs199669673		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:72541683G>T	ENST00000299290.1	-	4	540	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	TBATA_ENST00000545575.1_Silent_p.R41R|TBATA_ENST00000456372.2_Silent_p.R51R	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	51					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R51R(2)									CGGCGGATCCGCTCGAAATCC	0.597																																							uc001jrj.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(151-153)CGG>AGG		stromal protein associated with thymii and lymph							125.0	121.0	122.0					10																	72541683		2203	4300	6503	SO:0001819	synonymous_variant	219793				cell differentiation|multicellular organismal development|spermatogenesis	cytosol		g.chr10:72541683G>T	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.151C>A	10.37:g.72541683G>T						C10orf27_uc010qjm.1_Silent_p.R51R|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Silent_p.R51R|C10orf27_uc009xqi.1_RNA|C10orf27_uc010qjo.1_Silent_p.R40R|C10orf27_uc009xqj.1_Silent_p.R40R|C10orf27_uc010qjp.1_Silent_p.R40R	p.R51R	NM_152710	NP_689923	Q96M53	SPATL_HUMAN			4	541	-			51					A4QPA8|B2RPQ2|Q5T4G2	Silent	SNP	ENST00000299290.1	37	c.151C>A	CCDS7308.1																																																																																				0.597	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		41	100	1	0	6.2361e-21	0.007835	8.43093e-21	41	100				
OIT3	170392	broad.mit.edu	37	10	74660219	74660219	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:74660219G>T	ENST00000334011.5	+	3	739	c.521G>T	c.(520-522)gGc>gTc	p.G174V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	174						nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G174V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACTGTGCTAGGCCCTGACAGG	0.473																																					Colon(7;19 345 13446 17537)	Colon(7;19 345 13446 17537)	uc001jte.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(520-522)GGC>GTC		oncoprotein-induced transcript 3 precursor							58.0	52.0	54.0					10																	74660219		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74660219G>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.521G>T	10.37:g.74660219G>T	ENSP00000333900:p.Gly174Val					OIT3_uc009xqs.1_RNA	p.G174V	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			3	739	+	Prostate(51;0.0198)		174					A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.521G>T	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542852	0.65198	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	T	0.39787	1.06	5.34	5.34	0.76211	.	0.369254	0.22753	N	0.056053	T	0.58438	0.2122	M	0.64676	1.99	0.80722	D	1	D	0.64830	0.994	P	0.57720	0.826	T	0.58538	-0.7619	10	0.56958	D	0.05	-32.1191	17.4024	0.87464	0.0:0.0:1.0:0.0	.	174	Q8WWZ8	OIT3_HUMAN	V	174	ENSP00000333900:G174V	ENSP00000333900:G174V	G	+	2	0	OIT3	74330225	1.000000	0.71417	0.922000	0.36590	0.090000	0.18270	8.724000	0.91462	2.781000	0.95711	0.650000	0.86243	GGC		0.473	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		5	28	1	0	3.59834e-05	0.001168	3.94026e-05	5	28				
CFAP70	118491	broad.mit.edu	37	10	75095212	75095212	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:75095212T>C	ENST00000310715.3	-	8	983	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.Y288C|TTC18_ENST00000401621.2_Missense_Mutation_p.Y288C|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		288						extracellular vesicular exosome (GO:0070062)		p.Y288C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGATCAAGGTAGCAGCGACT	0.393																																							uc009xrc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(862-864)TAC>TGC		tetratricopeptide repeat domain 18							118.0	106.0	110.0					10																	75095212		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75095212T>C																												ENST00000310715.3:c.863A>G	10.37:g.75095212T>C	ENSP00000310829:p.Tyr288Cys					TTC18_uc001jty.2_Missense_Mutation_p.Y288C|TTC18_uc009xrd.1_Missense_Mutation_p.Y96C	p.Y288C	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			8	984	-	Prostate(51;0.0119)		288					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.863A>G	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165618	0.57476	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.50813	1.15;1.15;0.73	5.03	2.62	0.31277	.	0.204155	0.43260	D	0.000585	T	0.56366	0.1980	L	0.60455	1.87	0.35494	D	0.799267	D;D	0.76494	0.999;0.999	D;D	0.65443	0.935;0.917	T	0.62728	-0.6793	10	0.87932	D	0	-22.3439	5.068	0.14592	0.1666:0.0915:0.0:0.742	.	288;288	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	C	288	ENSP00000310829:Y288C;ENSP00000384479:Y288C;ENSP00000378334:Y288C	ENSP00000310829:Y288C	Y	-	2	0	TTC18	74765218	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.740000	0.38228	0.238000	0.21222	0.397000	0.26171	TAC		0.393	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	21	0	0	0	0.001984	0	7	21				
NDST2	8509	broad.mit.edu	37	10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:75565368G>C	ENST00000309979.6	-	8	2279	c.1723C>G	c.(1723-1725)Cag>Gag	p.Q575E	NDST2_ENST00000299641.4_Missense_Mutation_p.Q452E|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.Q575E			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	575	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.Q575E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTTCGCTCCTGAGGGAAAAGT	0.512																																							uc001jvk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1723-1725)CAG>GAG		heparan glucosaminyl							49.0	46.0	47.0					10																	75565368		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75565368G>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1723C>G	10.37:g.75565368G>C	ENSP00000310657:p.Gln575Glu					NDST2_uc010qks.1_Missense_Mutation_p.Q201E|NDST2_uc010qkt.1_Missense_Mutation_p.Q452E|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.Q201E|NDST2_uc010qku.1_Missense_Mutation_p.Q450E	p.Q575E	NM_003635	NP_003626	P52849	NDST2_HUMAN			8	2527	-	Prostate(51;0.0112)		575			Lumenal (Potential).|Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1723C>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	3.636	-0.074493	0.07184	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.38240	1.48;1.15	5.8	4.89	0.63831	.	0.171411	0.50627	N	0.000104	T	0.07999	0.0200	N	0.00085	-2.2	0.41151	D	0.986028	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42292	-0.9460	10	0.02654	T	1	.	15.5503	0.76145	0.0:0.4206:0.5794:0.0	.	452;245;575	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	E	575;452	ENSP00000310657:Q575E;ENSP00000299641:Q452E	ENSP00000299641:Q452E	Q	-	1	0	NDST2	75235374	0.938000	0.31826	1.000000	0.80357	0.998000	0.95712	1.720000	0.38022	1.416000	0.47057	0.650000	0.86243	CAG		0.512	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		6	41	0	0	0	0.001168	0	6	41				
KCNMA1	3778	broad.mit.edu	37	10	78651442	78651442	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:78651442C>G	ENST00000286628.8	-	26	3182	c.3183G>C	c.(3181-3183)cgG>cgC	p.R1061R	RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.R1061R|RP11-443A13.5_ENST00000609102.1_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.R1064R|KCNMA1_ENST00000404857.1_Silent_p.R1044R|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Silent_p.R1003R|KCNMA1_ENST00000286627.5_Silent_p.R1003R|KCNMA1_ENST00000372443.1_Silent_p.R1030R|KCNMA1_ENST00000406533.3_Silent_p.R1065R	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1061					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R1003R(2)|p.R1065R(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCACCAGGGTCCGTATCAGGG	0.542																																							uc001jxn.2		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(2)|ovary(1)	3						c.(3181-3183)CGG>CGC		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						61.0	63.0	62.0					10																	78651442		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651442C>G	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3183G>C	10.37:g.78651442C>G						KCNMA1_uc001jxj.2_Silent_p.R1007R|KCNMA1_uc001jxk.1_Silent_p.R679R|KCNMA1_uc009xrt.1_Silent_p.R852R|KCNMA1_uc001jxl.1_Silent_p.R686R|KCNMA1_uc001jxo.2_Silent_p.R1044R|KCNMA1_uc001jxm.2_Silent_p.R1003R|KCNMA1_uc001jxq.2_Silent_p.R1033R|uc001jxp.2_Intron	p.R1061R	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		26	3360	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1061			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.3183G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.276|9.276	1.046900|1.046900	0.19748|0.19748	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.52|5.52	3.64|3.64	0.41730|0.41730	.|.	.|.	.|.	.|.	.|.	T|T	0.46870|0.46870	0.1415|0.1415	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36335|0.36335	-0.9752|-0.9752	4|4	.|.	.|.	.|.	-12.0615|-12.0615	3.3719|3.3719	0.07224|0.07224	0.1429:0.5735:0.1379:0.1456|0.1429:0.5735:0.1379:0.1456	.|.	.|.	.|.	.|.	H|A	992;711|954	.|.	.|.	D|G	-|-	1|2	0|0	KCNMA1|KCNMA1	78321448|78321448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.456000|1.456000	0.35201|0.35201	0.684000|0.684000	0.31448|0.31448	0.585000|0.585000	0.79938|0.79938	GAC|GGA		0.542	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		14	40	0	0	0	0.00245	0	14	40				
LDB3	11155	broad.mit.edu	37	10	88476445	88476445	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:88476445T>A	ENST00000361373.4	+	9	1614	c.1593T>A	c.(1591-1593)ctT>ctA	p.L531L	LDB3_ENST00000429277.2_Silent_p.L536L|LDB3_ENST00000263066.6_Silent_p.L421L|LDB3_ENST00000352360.5_Silent_p.L274L|LDB3_ENST00000458213.2_Silent_p.L421L	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGCCACCACTTGCCAGGGGGA	0.652																																							uc001kdv.2		NA																	0				ovary(1)	1						c.(1591-1593)CTT>CTA		LIM domain binding 3 isoform 1							35.0	37.0	37.0					10																	88476445		2203	4300	6503	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88476445T>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1593T>A	10.37:g.88476445T>A						LDB3_uc010qml.1_Silent_p.L468L|LDB3_uc010qmm.1_Silent_p.L536L|LDB3_uc001kdu.2_Silent_p.L421L|LDB3_uc009xsz.2_Silent_p.L160L|LDB3_uc009xta.1_5'Flank	p.L531L	NM_007078	NP_009009	O75112	LDB3_HUMAN			9	1616	+			531						Silent	SNP	ENST00000361373.4	37	c.1593T>A	CCDS7377.1																																																																																				0.652	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			10	50	0	0	0	0.006214	0	10	50				
CYP26C1	340665	broad.mit.edu	37	10	94828349	94828349	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:94828349C>T	ENST00000285949.5	+	6	1464	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	488					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.A488A(1)		central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CCACACCCGCCTTCCCCGCCA	0.692																																							uc010qns.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1462-1464)GCC>GCT		cytochrome P450, family 26, subfamily C,							9.0	10.0	9.0					10																	94828349		2081	4141	6222	SO:0001819	synonymous_variant	340665				anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94828349C>T		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.1464C>T	10.37:g.94828349C>T						CYP26C1_uc009xud.2_RNA	p.A488A	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN			6	1464	+		Colorectal(252;0.122)	488					Q5VXH6	Silent	SNP	ENST00000285949.5	37	c.1464C>T	CCDS7425.1																																																																																				0.692	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		5	7	0	0	0	0.000602	0	5	7				
CYP2C18	1562	broad.mit.edu	37	10	96447589	96447589	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:96447589G>T	ENST00000285979.6	+	2	430	c.231G>T	c.(229-231)ttG>ttT	p.L77F	CYP2C18_ENST00000339022.5_Missense_Mutation_p.L77F	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	77					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.L77F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTGTGGTGTTGCATGGATATG	0.423																																							uc001kjv.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(229-231)TTG>TTT		cytochrome P450 family 2 subfamily C polypeptide							262.0	251.0	254.0					10																	96447589		2203	4300	6503	SO:0001583	missense	1562				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96447589G>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.231G>T	10.37:g.96447589G>T	ENSP00000285979:p.Leu77Phe					CYP2C18_uc001kjw.3_Missense_Mutation_p.L77F|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.1_5'Flank	p.L77F	NM_000772	NP_000763	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	2	557	+		Colorectal(252;0.09)	77					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.231G>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	16.77	3.215435	0.58452	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.72394	-0.65;-0.65	4.63	-0.205	0.13196	.	0.000000	0.64402	U	0.000018	T	0.81014	0.4735	H	0.95328	3.655	0.09310	N	0.999993	D;D	0.55605	0.972;0.957	P;P	0.59056	0.851;0.67	T	0.70483	-0.4859	10	0.72032	D	0.01	.	0.3712	0.00379	0.3061:0.1885:0.313:0.1924	.	77;77	Q4VAT5;P33260	.;CP2CI_HUMAN	F	77	ENSP00000341293:L77F;ENSP00000285979:L77F	ENSP00000285979:L77F	L	+	3	2	CYP2C18	96437579	0.100000	0.21855	0.570000	0.28473	0.985000	0.73830	0.355000	0.20163	0.344000	0.23847	0.306000	0.20318	TTG		0.423	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		40	77	1	0	1.49673e-21	0.00623	2.03108e-21	40	77				
CYP2C18	1562	broad.mit.edu	37	10	96454680	96454680	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:96454680C>T	ENST00000285979.6	+	4	687	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.P163L	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	163					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.P163L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTAGCCTCACCCTGTGATCCC	0.328																																							uc001kjv.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|skin(1)	5						c.(487-489)CCC>CTC		cytochrome P450 family 2 subfamily C polypeptide							115.0	111.0	113.0					10																	96454680		2203	4300	6503	SO:0001583	missense	1562				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96454680C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.488C>T	10.37:g.96454680C>T	ENSP00000285979:p.Pro163Leu					CYP2C18_uc001kjw.3_Missense_Mutation_p.P163L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR	p.P163L	NM_000772	NP_000763	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	4	814	+		Colorectal(252;0.09)	163					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.488C>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	19.44	3.828846	0.71258	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69561	-0.41;-0.41	4.56	4.56	0.56223	.	0.000000	0.85682	U	0.000000	T	0.80502	0.4635	M	0.80028	2.48	0.80722	D	1	D;P	0.67145	0.996;0.943	D;B	0.63957	0.92;0.346	T	0.82928	-0.0214	10	0.52906	T	0.07	.	14.833	0.70162	0.0:1.0:0.0:0.0	.	163;163	Q4VAT5;P33260	.;CP2CI_HUMAN	L	163	ENSP00000341293:P163L;ENSP00000285979:P163L	ENSP00000285979:P163L	P	+	2	0	CYP2C18	96444670	0.968000	0.33430	0.930000	0.37139	0.948000	0.59901	4.665000	0.61547	2.086000	0.62901	0.290000	0.19541	CCC		0.328	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		21	34	0	0	0	0.003954	0	21	34				
ENTPD1	953	broad.mit.edu	37	10	97605318	97605318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:97605318C>T	ENST00000371205.4	+	6	1061	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.Q272*|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.Q267*|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Nonsense_Mutation_p.Q122*|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.Q122*|ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.Q152*			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	260					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.Q260*(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGGAAGGATCAGGCACTCTG	0.502																																							uc001klh.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(778-780)CAG>TAG		ectonucleoside triphosphate diphosphohydrolase 1							131.0	112.0	119.0					10																	97605318		2203	4300	6503	SO:0001587	stop_gained	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97605318C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.778C>T	10.37:g.97605318C>T	ENSP00000360248:p.Gln260*					ENTPD1_uc001kle.1_Nonsense_Mutation_p.Q267*|ENTPD1_uc001kli.3_Nonsense_Mutation_p.Q267*|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Nonsense_Mutation_p.Q272*|ENTPD1_uc010qok.1_Nonsense_Mutation_p.Q152*|ENTPD1_uc010qol.1_Nonsense_Mutation_p.Q152*|ENTPD1_uc010qom.1_Nonsense_Mutation_p.Q260*|ENTPD1_uc010qon.1_Nonsense_Mutation_p.Q122*|ENTPD1_uc009xva.2_Nonsense_Mutation_p.Q122*|ENTPD1_uc009xuz.2_RNA	p.Q260*	NM_001776	NP_001767	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	6	1102	+		Colorectal(252;0.0821)	260			Extracellular (Potential).		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Nonsense_Mutation	SNP	ENST00000371205.4	37	c.778C>T	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	C	36	5.921412	0.97105	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	.	.	.	5.55	4.63	0.57726	.	0.050820	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-11.8881	14.0468	0.64710	0.0:0.8479:0.1521:0.0	.	.	.	.	X	267;267;272;152;122;122;260	.	ENSP00000360246:Q122X	Q	+	1	0	ENTPD1	97595308	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.664000	0.54525	1.546000	0.49388	0.591000	0.81541	CAG		0.502	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		17	73	0	0	0	0.004007	0	17	73				
SLIT1	6585	broad.mit.edu	37	10	98807550	98807550	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:98807550C>T	ENST00000266058.4	-	16	1776	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	SLIT1_ENST00000371070.4_Missense_Mutation_p.V511M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	511	LRRNT 3.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.V511M(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGACAGACCACGTCGCTGTTG	0.647																																							uc001kmw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1531-1533)GTG>ATG		slit homolog 1 precursor							72.0	65.0	67.0					10																	98807550		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98807550C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1531G>A	10.37:g.98807550C>T	ENSP00000266058:p.Val511Met					SLIT1_uc009xvh.1_Missense_Mutation_p.V521M	p.V511M	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	16	1783	-		Colorectal(252;0.162)	511			LRRNT 3.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1531G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	8.237	0.805979	0.16467	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.80824	-1.42;-1.42;0.54	4.73	4.73	0.59995	.	0.330257	0.32578	N	0.005904	T	0.80465	0.4628	M	0.70275	2.135	0.80722	D	1	P;P	0.44309	0.832;0.521	B;B	0.40285	0.325;0.083	T	0.81293	-0.0998	10	0.34782	T	0.22	.	17.8954	0.88886	0.0:1.0:0.0:0.0	.	521;511	E7EWQ8;O75093	.;SLIT1_HUMAN	M	511;521;511;504	ENSP00000266058:V511M;ENSP00000360109:V511M;ENSP00000315005:V504M	ENSP00000266058:V511M	V	-	1	0	SLIT1	98797540	0.949000	0.32298	0.301000	0.25044	0.003000	0.03518	2.472000	0.45136	2.448000	0.82819	0.462000	0.41574	GTG		0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		32	57	0	0	0	0.008361	0	32	57				
BLOC1S2	282991	broad.mit.edu	37	10	102039910	102039910	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:102039910T>C	ENST00000370372.2	-	4	420	c.368A>G	c.(367-369)tAc>tGc	p.Y123C	BLOC1S2_ENST00000441611.1_Missense_Mutation_p.Y80C|BLOC1S2_ENST00000361832.2_5'Flank	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	123					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)	p.Y123C(1)		large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		ATCCAACTTGTAAGCTGCCTG	0.368																																							uc001kqw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(367-369)TAC>TGC		biogenesis of lysosome-related organelles							111.0	111.0	111.0					10																	102039910		2203	4300	6503	SO:0001583	missense	282991				melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	g.chr10:102039910T>C	AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20984	protein-coding gene	gene with protein product	"""centrosome protein oncogene"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 2"", ""BLOC-1 subunit 2"""	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.368A>G	10.37:g.102039910T>C	ENSP00000359398:p.Tyr123Cys					BLOC1S2_uc001kqv.1_Missense_Mutation_p.Y80C	p.Y123C	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)	4	391	-		Colorectal(252;0.117)	123			Potential.		B4DQV2|Q5W040|Q8WUI8	Missense_Mutation	SNP	ENST00000370372.2	37	c.368A>G	CCDS7490.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457029	0.84317	.	.	ENSG00000196072	ENST00000361832;ENST00000358848;ENST00000441611;ENST00000370372	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.80961	-0.1148	9	0.66056	D	0.02	-6.7667	14.616	0.68549	0.0:0.0:0.0:1.0	.	123	Q6QNY1	BL1S2_HUMAN	C	55;123;80;55	.	ENSP00000351716:Y123C	Y	-	2	0	BLOC1S2	102029900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.616000	0.83018	2.049000	0.60858	0.454000	0.30748	TAC		0.368	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049861.2	NM_173809		8	49	0	0	0	0.004482	0	8	49				
LZTS2	84445	broad.mit.edu	37	10	102763856	102763856	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:102763856G>A	ENST00000370220.1	+	2	4064	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	LZTS2_ENST00000370223.3_Missense_Mutation_p.R334Q					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAAAGCTCCGAGACCGGGAG	0.632																																					Esophageal Squamous(8;38 437 13604 19902 37640)	Esophageal Squamous(8;38 437 13604 19902 37640)	uc001ksj.2		NA																	0				ovary(2)|large_intestine(1)|breast(1)	4						c.(1000-1002)CGA>CAA		leucine zipper, putative tumor suppressor 2							44.0	47.0	46.0					10																	102763856		2202	4298	6500	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763856G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1001G>A	10.37:g.102763856G>A	ENSP00000359240:p.Arg334Gln					LZTS2_uc010qpw.1_Missense_Mutation_p.R334Q|LZTS2_uc001ksk.2_Missense_Mutation_p.R334Q|LZTS2_uc001ksl.2_Missense_Mutation_p.R334Q|LZTS2_uc001ksm.2_RNA	p.R334Q	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	1070	+			334			Potential.			Missense_Mutation	SNP	ENST00000370220.1	37	c.1001G>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934062	0.52866	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.52057	0.68;0.68	5.12	3.27	0.37495	.	0.178169	0.45867	N	0.000330	T	0.35595	0.0937	L	0.52126	1.63	0.33060	D	0.533996	P	0.34815	0.47	B	0.27715	0.082	T	0.45775	-0.9238	9	.	.	.	-1.7345	9.1949	0.37222	0.227:0.0:0.773:0.0	.	334	Q9BRK4	LZTS2_HUMAN	Q	334	ENSP00000359243:R334Q;ENSP00000359240:R334Q	.	R	+	2	0	LZTS2	102753846	0.997000	0.39634	0.434000	0.26772	0.747000	0.42532	4.050000	0.57404	0.675000	0.31264	-0.219000	0.12488	CGA		0.632	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		16	69	0	0	0	0.00499	0	16	69				
LDB1	8861	broad.mit.edu	37	10	103870845	103870845	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:103870845C>A	ENST00000425280.1	-	4	572	c.230G>T	c.(229-231)cGg>cTg	p.R77L	LDB1_ENST00000361198.5_Missense_Mutation_p.R41L|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	77					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.R77L(2)|p.R41L(2)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTTCTGAAGCCGTTTGTTAAG	0.532																																							uc009xwz.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(1)	1						c.(229-231)CGG>CTG		LIM domain binding 1 isoform 1							153.0	154.0	154.0					10																	103870845		2203	4300	6503	SO:0001583	missense	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103870845C>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.230G>T	10.37:g.103870845C>A	ENSP00000392466:p.Arg77Leu					LDB1_uc001kuk.3_Missense_Mutation_p.R41L|LDB1_uc001kul.3_Missense_Mutation_p.R41L	p.R77L	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	4	573	-		Colorectal(252;0.122)	77					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	c.230G>T	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001714	0.93227	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.97	5.97	0.96955	.	0.052260	0.85682	D	0.000000	D	0.82958	0.5150	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.982;0.999	D	0.83471	0.0059	9	0.87932	D	0	-0.2368	20.0291	0.97531	0.0:1.0:0.0:0.0	.	77;41	Q86U70;Q86U70-3	LDB1_HUMAN;.	L	41;77	.	ENSP00000354616:R41L	R	-	2	0	LDB1	103860835	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.314000	0.78988	2.838000	0.97847	0.561000	0.74099	CGG		0.532	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		12	40	1	0	2.80697e-09	0.010729	3.40495e-09	12	40				
ADRA2A	150	broad.mit.edu	37	10	112838147	112838147	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:112838147C>G	ENST00000280155.2	+	1	1358	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	116					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.F116L(2)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACGTGCTCTTCTGCACGTCGT	0.622																																					Esophageal Squamous(173;605 2658 7278 49362)	Esophageal Squamous(173;605 2658 7278 49362)	uc001kzo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(391-393)TTC>TTG		alpha-2A-adrenergic receptor	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						95.0	76.0	83.0					10																	112838147		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112838147C>G	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.393C>G	10.37:g.112838147C>G	ENSP00000280155:p.Phe131Leu						p.F131L	NM_000681	NP_000672	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	1358	+		Breast(234;0.0735)|Lung NSC(174;0.238)	116			Helical; Name=3; (By similarity).		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.393C>G	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674280	0.67928	.	.	ENSG00000150594	ENST00000280155	T	0.10005	2.92	4.29	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.058327	0.64402	U	0.000002	T	0.19366	0.0465	L	0.35793	1.09	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.02574	-1.1139	10	0.18710	T	0.47	.	11.7074	0.51605	0.0:0.9127:0.0:0.0873	.	116	P08913	ADA2A_HUMAN	L	131	ENSP00000280155:F131L	ENSP00000280155:F131L	F	+	3	2	ADRA2A	112828137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.144000	0.42197	0.790000	0.33803	0.555000	0.69702	TTC		0.622	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		10	33	0	0	0	0.006214	0	10	33				
PLEKHS1	79949	broad.mit.edu	37	10	115540407	115540407	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:115540407A>G	ENST00000354462.3	+	6	622	c.464A>G	c.(463-465)cAt>cGt	p.H155R	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.H239R|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.H323R			Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	419								p.H323R(1)									GAGACATTCCATGCTGCATCC	0.423																																							uc009xyc.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(967-969)CAT>CGT		RecName: Full=PH domain-containing protein C10orf81;							93.0	87.0	89.0					10																	115540407		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115540407A>G	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000354462.3:c.464A>G	10.37:g.115540407A>G	ENSP00000346451:p.His155Arg					C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_Missense_Mutation_p.H323R|C10orf81_uc001lau.1_Missense_Mutation_p.H239R|C10orf81_uc001lav.2_5'Flank	p.H323R			Q5SXH7	CJ081_HUMAN		Epithelial(162;0.0181)|all cancers(201;0.0204)	13	1659	+		Colorectal(252;0.175)	419					A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000354462.3	37	c.968A>G		.	.	.	.	.	.	.	.	.	.	A	14.54	2.567187	0.45694	.	.	ENSG00000148735	ENST00000369312;ENST00000369309;ENST00000354462	T;T;T	0.30182	1.54;1.54;1.54	5.49	5.49	0.81192	.	.	.	.	.	T	0.51890	0.1701	M	0.62723	1.935	0.32932	D	0.517215	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64884	-0.6302	9	0.72032	D	0.01	.	12.2655	0.54676	1.0:0.0:0.0:0.0	.	419;405	Q5SXH7;Q5SXH7-2	CJ081_HUMAN;.	R	323;239;155	ENSP00000358318:H323R;ENSP00000358315:H239R;ENSP00000346451:H155R	ENSP00000346451:H155R	H	+	2	0	C10orf81	115530397	0.976000	0.34144	0.876000	0.34364	0.084000	0.17831	4.972000	0.63756	2.218000	0.71995	0.533000	0.62120	CAT		0.423	PLEKHS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050431.2	NM_024889		6	32	0	0	0	0.001168	0	6	32				
ATRNL1	26033	broad.mit.edu	37	10	116925403	116925403	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:116925403C>G	ENST00000355044.3	+	7	1216	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	364					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.Q364E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCTTTATATCAGGTATGGCT	0.313																																							uc001lcg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1090-1092)CAG>GAG		attractin-like 1 precursor							81.0	83.0	83.0					10																	116925403		2203	4298	6501	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116925403C>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1090C>G	10.37:g.116925403C>G	ENSP00000347152:p.Gln364Glu					ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.Q364E|ATRNL1_uc009xyq.2_Intron	p.Q364E	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1476	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	364			Extracellular (Potential).|Kelch 1.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1090C>G	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992333	0.35131	.	.	ENSG00000107518	ENST00000355044	T	0.27402	1.67	5.75	2.68	0.31781	Kelch-type beta propeller (1);	0.211367	0.51477	N	0.000092	T	0.19406	0.0466	L	0.27053	0.805	0.80722	D	1	B;B	0.23735	0.09;0.0	B;B	0.28385	0.089;0.001	T	0.03945	-1.0990	10	0.07482	T	0.82	-3.9837	11.9909	0.53173	0.1282:0.6249:0.2469:0.0	.	364;364	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	E	364	ENSP00000347152:Q364E	ENSP00000347152:Q364E	Q	+	1	0	ATRNL1	116915393	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.569000	0.53827	0.743000	0.32719	0.650000	0.86243	CAG		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		3	24	0	0	0	0.004672	0	3	24				
PDZD8	118987	broad.mit.edu	37	10	119043108	119043108	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:119043108C>T	ENST00000334464.5	-	5	3375	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1046					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.E1046K(2)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGATCAATTTCATTCTGTAGC	0.383																																							uc001lde.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3136-3138)GAA>AAA		PDZ domain containing 8							113.0	111.0	112.0					10																	119043108		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043108C>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3136G>A	10.37:g.119043108C>T	ENSP00000334642:p.Glu1046Lys						p.E1046K	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3335	-		Colorectal(252;0.19)	1046			Potential.		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.3136G>A	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225561	0.79576	.	.	ENSG00000165650	ENST00000334464	D	0.88201	-2.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	L	0.32530	0.975	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	D	0.92540	0.6041	10	0.72032	D	0.01	-19.234	19.8633	0.96793	0.0:1.0:0.0:0.0	.	1046	Q8NEN9	PDZD8_HUMAN	K	1046	ENSP00000334642:E1046K	ENSP00000334642:E1046K	E	-	1	0	PDZD8	119033098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.697000	0.92050	0.591000	0.81541	GAA		0.383	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		17	63	0	0	0	0.004007	0	17	63				
PPAPDC1A	196051	broad.mit.edu	37	10	122263423	122263423	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:122263423T>A	ENST00000398250.1	+	2	502	c.150T>A	c.(148-150)ccT>ccA	p.P50P	PPAPDC1A_ENST00000398248.1_Silent_p.P50P|PPAPDC1A_ENST00000369073.3_Silent_p.P40P|PPAPDC1A_ENST00000541332.1_Silent_p.P50P|PPAPDC1A_ENST00000439221.1_Silent_p.P50P	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	50					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.P50P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATAACATACCTACCCGCCTCA	0.393																																							uc001lev.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(148-150)CCT>CCA		phosphatidic acid phosphatase type 2 domain							131.0	123.0	126.0					10																	122263423		1844	4097	5941	SO:0001819	synonymous_variant	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122263423T>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.150T>A	10.37:g.122263423T>A						PPAPDC1A_uc010qtd.1_Silent_p.P50P|PPAPDC1A_uc009xzl.1_Silent_p.P50P|PPAPDC1A_uc001lew.1_Silent_p.P50P|PPAPDC1A_uc001lex.1_Silent_p.P50P|PPAPDC1A_uc001ley.1_5'UTR	p.P50P	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	2	502	+		Lung NSC(174;0.1)|all_lung(145;0.132)	50			Helical; (Potential).		A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Silent	SNP	ENST00000398250.1	37	c.150T>A	CCDS41573.1																																																																																				0.393	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		15	46	0	0	0	0.004007	0	15	46				
DMBT1	1755	broad.mit.edu	37	10	124377590	124377590	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:124377590G>T	ENST00000338354.3	+	38	4668	c.4562G>T	c.(4561-4563)cGa>cTa	p.R1521L	DMBT1_ENST00000368909.3_Missense_Mutation_p.R1521L|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1511L|DMBT1_ENST00000368956.2_Missense_Mutation_p.R893L|DMBT1_ENST00000330163.4_Missense_Mutation_p.R893L|DMBT1_ENST00000359586.6_Missense_Mutation_p.R372L|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1511L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1521	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.R1521L(4)|p.R1650L(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCGAGGCCGAGTGGAGGTC	0.582																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	6	Substitution - Missense(6)		lung(6)	central_nervous_system(7)	7						c.(4561-4563)CGA>CTA		deleted in malignant brain tumors 1 isoform b							345.0	348.0	347.0					10																	124377590		2058	4217	6275	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124377590G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4562G>T	10.37:g.124377590G>T	ENSP00000342210:p.Arg1521Leu					DMBT1_uc001lgl.1_Missense_Mutation_p.R1511L|DMBT1_uc001lgm.1_Missense_Mutation_p.R893L|DMBT1_uc009xzz.1_Missense_Mutation_p.R1521L|DMBT1_uc010qtx.1_Missense_Mutation_p.R372L|DMBT1_uc009yab.1_Missense_Mutation_p.R224L|DMBT1_uc009yac.1_5'Flank	p.R1521L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			38	4668	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1521			SRCR 12.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.4562G>T		.	.	.	.	.	.	.	.	.	.	A	17.29	3.352151	0.61183	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	3.87	1.88	0.25563	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	1825.910000	0.00465	U	0.000109	T	0.72526	0.3471	H	0.95645	3.7	0.29932	N	0.821852	B;D;D;D;B;D	0.89917	0.335;1.0;0.999;1.0;0.335;1.0	B;D;D;D;B;D	0.97110	0.136;1.0;0.992;1.0;0.136;1.0	T	0.33317	-0.9873	10	0.72032	D	0.01	.	8.6637	0.34108	0.0837:0.0:0.7668:0.1496	.	372;770;1650;893;1511;1521	F8WEF7;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	L	1521;1650;1521;1521;1521;1521;893;1511;893;893;1521;1511;893;372	ENSP00000342210:R1521L;ENSP00000343175:R1511L;ENSP00000327747:R893L;ENSP00000357905:R1521L;ENSP00000357951:R1511L;ENSP00000357952:R893L;ENSP00000352593:R372L	ENSP00000331522:R893L	R	+	2	0	DMBT1	124367580	0.998000	0.40836	0.451000	0.26982	0.602000	0.36980	7.339000	0.79282	0.202000	0.20498	0.298000	0.19748	CGA		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		81	392	1	0	1.39159e-27	0.01441	1.93173e-27	81	392				
ADAM12	8038	broad.mit.edu	37	10	127782626	127782626	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:127782626T>A	ENST00000368679.4	-	11	1391	c.1082A>T	c.(1081-1083)gAc>gTc	p.D361V	ADAM12_ENST00000368676.4_Missense_Mutation_p.D361V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	361	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.D361V(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCAGTGTGTCATGATTCAT	0.517																																							uc001ljk.2		NA																	3	Substitution - Missense(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1081-1083)GAC>GTC		ADAM metallopeptidase domain 12 isoform 1							160.0	137.0	145.0					10																	127782626		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127782626T>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1082A>T	10.37:g.127782626T>A	ENSP00000357668:p.Asp361Val					ADAM12_uc010qul.1_Missense_Mutation_p.D312V|ADAM12_uc001ljm.2_Missense_Mutation_p.D361V|ADAM12_uc001ljn.2_Missense_Mutation_p.D358V|ADAM12_uc001ljl.3_Missense_Mutation_p.D358V	p.D361V	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	11	1495	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	361			Extracellular (Potential).|Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1082A>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389887	0.61956	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.91521	-2.86;-2.86	4.89	4.89	0.63831	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	D	0.97631	1.0142	10	0.87932	D	0	.	14.6744	0.68969	0.0:0.0:0.0:1.0	.	358;358;361;358;361	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	361	ENSP00000357668:D361V;ENSP00000357665:D361V	ENSP00000357665:D361V	D	-	2	0	ADAM12	127772616	1.000000	0.71417	0.982000	0.44146	0.148000	0.21650	7.757000	0.85209	2.055000	0.61198	0.374000	0.22700	GAC		0.517	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			14	74	0	0	0	0.001855	0	14	74				
MKI67	4288	broad.mit.edu	37	10	129903116	129903116	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:129903116T>A	ENST00000368654.3	-	13	7363	c.6988A>T	c.(6988-6990)Aag>Tag	p.K2330*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1970*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2330	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.K2330*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCGTGGGCTTGTCAGTGCCT	0.522																																							uc001lke.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6988-6990)AAG>TAG		antigen identified by monoclonal antibody Ki-67							269.0	283.0	278.0					10																	129903116		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903116T>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6988A>T	10.37:g.129903116T>A	ENSP00000357643:p.Lys2330*					MKI67_uc001lkf.2_Nonsense_Mutation_p.K1970*|MKI67_uc009yav.1_Nonsense_Mutation_p.K1905*|MKI67_uc009yaw.1_Nonsense_Mutation_p.K1480*	p.K2330*	NM_002417	NP_002408	P46013	KI67_HUMAN			13	7183	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2330			16 X 122 AA approximate repeats.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.6988A>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	47	13.717936	0.99759	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	2.47	-2.36	0.06663	.	1.987900	0.02770	N	0.119546	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	2.2812	0.04114	0.1474:0.4908:0.1482:0.2136	.	.	.	.	X	2330;1970;2329	.	ENSP00000357642:K1970X	K	-	1	0	MKI67	129793106	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.863000	0.04259	-0.549000	0.06191	0.459000	0.35465	AAG		0.522	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		119	308	0	0	0	0.01441	0	119	308				
CFAP46	54777	broad.mit.edu	37	10	134648922	134648922	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:134648922C>T	ENST00000368586.5	-	47	6730	c.6630G>A	c.(6628-6630)atG>atA	p.M2210I	TTC40_ENST00000263170.5_Missense_Mutation_p.M371I	NM_001200049.2	NP_001186978.2												p.M371I(1)|p.M2210I(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGCCAGACGCATCACCTTGC	0.632																																							uc010qux.1		NA																	2	Substitution - Missense(2)		lung(2)		NA						c.(5806-5808)ATG>ATA		Homo sapiens cDNA, FLJ17989.							112.0	88.0	96.0					10																	134648922		2203	4300	6503	SO:0001583	missense	0							g.chr10:134648922C>T																												ENST00000368586.5:c.6630G>A	10.37:g.134648922C>T	ENSP00000357575:p.Met2210Ile						p.M1936I	NM_017609	NP_060079					39	5808	-									Missense_Mutation	SNP	ENST00000368586.5	37	c.5808G>A	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.325221	0.01309	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.11604	2.98;2.76	3.12	-6.24	0.02046	.	1.606170	0.03936	N	0.286139	T	0.05823	0.0152	N	0.22421	0.69	0.36133	D	0.846242	P	0.37955	0.612	B	0.31946	0.138	T	0.12400	-1.0549	10	0.22109	T	0.4	.	6.8803	0.24168	0.1481:0.5153:0.0:0.3366	.	371	Q8IYW2	CJ092_HUMAN	I	2210;371	ENSP00000357575:M2210I;ENSP00000263170:M371I	ENSP00000263170:M371I	M	-	3	0	C10orf93	134498912	0.000000	0.05858	0.003000	0.11579	0.129000	0.20672	-3.010000	0.00648	-2.729000	0.00385	0.455000	0.32223	ATG		0.632	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			17	51	0	0	0	0.006122	0	17	51				
FRG2B	441581	broad.mit.edu	37	10	135440237	135440237	+	Missense_Mutation	SNP	C	C	T	rs570249949		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:135440237C>T	ENST00000425520.1	-	1	62	c.10G>A	c.(10-12)Gga>Aga	p.G4R	FRG2B_ENST00000443774.1_Missense_Mutation_p.G4R	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTTCATTTCCCTTTCCCATG	0.522													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19804	0.0		0.0	False		,,,				2504	0.0						uc010qvg.1		NA																	0					0						c.(10-12)GGA>AGA		FSHD region gene 2 family, member B																																				SO:0001583	missense	441581					nucleus		g.chr10:135440237C>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.10G>A	10.37:g.135440237C>T	ENSP00000401310:p.Gly4Arg						p.G4R	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	63	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	4					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.10G>A	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	9.821	1.185887	0.21870	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.42900	0.96;0.96	0.109	0.109	0.14578	.	1.569480	0.04304	N	0.347742	T	0.49440	0.1557	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.42882	-0.9425	9	0.87932	D	0	-0.4595	.	.	.	.	4	Q96QU4	FRG2B_HUMAN	R	4	ENSP00000408343:G4R;ENSP00000401310:G4R	ENSP00000401310:G4R	G	-	1	0	FRG2B	135290227	0.996000	0.38824	0.036000	0.18154	0.036000	0.12997	0.712000	0.25779	0.181000	0.19994	0.184000	0.17185	GGA		0.522	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		7	184	0	0	0	0.00308	0	7	184				
IFITM1	8519	broad.mit.edu	37	11	315104	315104	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:315104G>T	ENST00000408968.3	+	2	687	c.369G>T	c.(367-369)cgG>cgT	p.R123R	IFITM1_ENST00000328221.5_Silent_p.R123R|IFITM1_ENST00000528780.1_Silent_p.R123R	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	123	Interaction with CAV1.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.R123R(2)		large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAAAAACGGGGTTACTAGT	0.527																																							uc001loy.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(367-369)CGG>CGT		interferon induced transmembrane protein 1							86.0	87.0	87.0					11																	315104		1918	4137	6055	SO:0001819	synonymous_variant	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:315104G>T	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.369G>T	11.37:g.315104G>T							p.R123R	NM_003641	NP_003632	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	549	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	123			Interaction with CAV1.|Extracellular (Potential).		Q15322|Q53XZ0	Silent	SNP	ENST00000408968.3	37	c.369G>T	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	G	4.807	0.150049	0.09185	.	.	ENSG00000185201	ENST00000399815	.	.	.	3.75	-0.127	0.13510	.	10.896100	0.00644	U	0.000527	T	0.26122	0.0637	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13683	-1.0500	5	.	.	.	.	5.9627	0.19308	0.6083:0.0:0.3917:0.0	.	.	.	.	W	72	.	.	G	+	1	0	IFITM2	305104	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.615000	0.02055	0.029000	0.15352	0.205000	0.17691	GGG		0.527	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		19	65	1	0	3.8784e-16	0.012319	5.12415e-16	19	65				
MUC6	4588	broad.mit.edu	37	11	1025314	1025314	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1025314G>T	ENST00000421673.2	-	23	2903	c.2853C>A	c.(2851-2853)ccC>ccA	p.P951P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	951	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P951P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCACGTGGGGCTCCTCCC	0.657																																							uc001lsw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2851-2853)CCC>CCA		mucin 6, gastric							59.0	69.0	65.0					11																	1025314		2101	4213	6314	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025314G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2853C>A	11.37:g.1025314G>T							p.P951P	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	2904	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	951			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.2853C>A	CCDS44513.1																																																																																				0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		31	74	1	0	2.2171e-23	0.009535	3.03415e-23	31	74				
MUC5B	727897	broad.mit.edu	37	11	1271377	1271377	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1271377G>A	ENST00000529681.1	+	31	13325	c.13267G>A	c.(13267-13269)Gag>Aag	p.E4423K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.E4426K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4423	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.E4423K(2)|p.E4378K(2)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GATCCTCACAGAGCTGACCAC	0.647																																							uc009ycr.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(14686-14688)GAG>AAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							118.0	139.0	132.0					11																	1271377		2065	4204	6269	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271377G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13267G>A	11.37:g.1271377G>A	ENSP00000436812:p.Glu4423Lys					MUC5B_uc001ltb.2_Missense_Mutation_p.E4426K	p.E4896K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14812	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4423			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14686G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	7.046	0.563475	0.13498	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.18657	2.2;2.39	2.11	-1.02	0.10135	.	.	.	.	.	T	0.18130	0.0435	L	0.60455	1.87	0.09310	N	1	B;B	0.22003	0.032;0.063	B;B	0.09377	0.004;0.004	T	0.28267	-1.0049	9	0.87932	D	0	.	5.2561	0.15548	0.4351:0.0:0.5649:0.0	.	4896;4426	A7Y9J9;E9PBJ0	.;.	K	4423;4426;4367;4273;202	ENSP00000436812:E4423K;ENSP00000415793:E4426K	ENSP00000343037:E4367K	E	+	1	0	MUC5B	1227953	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-3.301000	0.00520	-0.204000	0.10235	0.186000	0.17326	GAG		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		29	113	0	0	0	0.010818	0	29	113				
BRSK2	9024	broad.mit.edu	37	11	1475797	1475797	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1475797C>T	ENST00000528841.1	+	16	2011	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	BRSK2_ENST00000308219.9_Silent_p.L543L|BRSK2_ENST00000544817.1_Silent_p.L238L|BRSK2_ENST00000528710.1_Silent_p.L483L|BRSK2_ENST00000382179.1_Silent_p.L589L|BRSK2_ENST00000531197.1_Silent_p.L543L|BRSK2_ENST00000308230.5_Silent_p.L565L|BRSK2_ENST00000526678.1_Silent_p.L565L			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	543					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGACAAACCTCTGAGCTCCAT	0.622																																							uc001lti.2		NA																	0					0						c.(1627-1629)CTG>TTG		BR serine/threonine kinase 2							63.0	71.0	68.0					11																	1475797		2088	4229	6317	SO:0001819	synonymous_variant	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1475797C>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1627C>T	11.37:g.1475797C>T						BRSK2_uc009ycv.1_Silent_p.L565L|BRSK2_uc001lth.1_Silent_p.L543L|BRSK2_uc001ltj.2_Silent_p.L543L|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.L543L|BRSK2_uc001ltm.2_Silent_p.L589L|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_Silent_p.L39L	p.L543L	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	16	2013	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	543					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	c.1627C>T	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270154	0.23221	.	.	ENSG00000174672	ENST00000533606	.	.	.	3.57	2.65	0.31530	.	.	.	.	.	T	0.55832	0.1945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49153	-0.8969	4	.	.	.	.	7.5618	0.27855	0.0:0.7155:0.0:0.2845	.	.	.	.	F	81	.	.	S	+	2	0	BRSK2	1432373	0.506000	0.26139	0.994000	0.49952	0.960000	0.62799	1.046000	0.30354	0.718000	0.32166	0.313000	0.20887	TCT		0.622	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		10	48	0	0	0	0.010729	0	10	48				
TNNI2	7136	broad.mit.edu	37	11	1862435	1862435	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:1862435A>T	ENST00000381906.1	+	7	520	c.451A>T	c.(451-453)Aag>Tag	p.K151*	TNNI2_ENST00000381905.3_Nonsense_Mutation_p.K151*|TNNI2_ENST00000381911.1_Nonsense_Mutation_p.K151*|TNNI2_ENST00000252898.7_Nonsense_Mutation_p.K151*	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	151					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)	p.K151*(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGACACAGAGAAGGTGCGTGC	0.667																																							uc010qxe.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(451-453)AAG>TAG		fast-twitch skeletal muscle troponin I isoform							55.0	46.0	49.0					11																	1862435		2201	4299	6500	SO:0001587	stop_gained	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862435A>T	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.451A>T	11.37:g.1862435A>T	ENSP00000371331:p.Lys151*					TNNI2_uc010qxc.1_Nonsense_Mutation_p.K149*|TNNI2_uc010qxd.1_Nonsense_Mutation_p.K149*	p.K151*	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	5	473	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	151					A6NIV8|A6NJU5	Nonsense_Mutation	SNP	ENST00000381906.1	37	c.451A>T	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	a	20.9	4.059866	0.76074	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	.	.	.	3.19	3.19	0.36642	.	0.051276	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.8435	12.4964	0.55931	1.0:0.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000252898:K151X	K	+	1	0	TNNI2	1819011	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.638000	0.74309	1.697000	0.51169	0.260000	0.18958	AAG		0.667	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		8	27	0	0	0	0.006214	0	8	27				
TH	7054	broad.mit.edu	37	11	2191051	2191051	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:2191051C>A	ENST00000381178.1	-	3	252	c.234G>T	c.(232-234)aaG>aaT	p.K78N	TH_ENST00000352909.3_Missense_Mutation_p.K47N|TH_ENST00000381175.1_Missense_Mutation_p.K74N|TH_ENST00000333684.5_Missense_Mutation_p.K51N	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	78					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCTCCCGCTCCTTGCGGGCGT	0.721																																							uc001lvq.2		NA																	0					0						c.(232-234)AAG>AAT		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						13.0	15.0	14.0					11																	2191051		2186	4262	6448	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2191051C>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.234G>T	11.37:g.2191051C>A	ENSP00000370571:p.Lys78Asn					TH_uc001lvp.2_Missense_Mutation_p.K74N|TH_uc001lvr.2_Missense_Mutation_p.K47N|TH_uc010qxj.1_Missense_Mutation_p.K51N|TH_uc001lvs.2_Missense_Mutation_p.K47N|TH_uc001lvt.2_Missense_Mutation_p.K51N|TH_uc009ydh.1_5'Flank	p.K78N	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	3	253	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	78					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.234G>T	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523267	0.44866	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99586	-6.22;-6.23;-6.17;-5.89	3.59	1.65	0.23941	Tyrosine hydroxylase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	L	0.47190	1.495	0.45747	D	0.998648	P;B;B;B;D;D	0.67145	0.668;0.006;0.006;0.309;0.996;0.995	B;B;B;B;P;P	0.62649	0.18;0.01;0.01;0.094;0.905;0.846	D	0.98340	1.0538	10	0.87932	D	0	.	8.0103	0.30349	0.0:0.7472:0.1595:0.0933	.	51;51;47;47;78;74	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	N	78;74;47;51	ENSP00000370571:K78N;ENSP00000370567:K74N;ENSP00000325951:K47N;ENSP00000328814:K51N	ENSP00000328814:K51N	K	-	3	2	TH	2147627	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	1.275000	0.33144	0.155000	0.19261	-0.424000	0.05967	AAG		0.721	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		9	35	1	0	7.48243e-07	0.006214	8.60894e-07	9	35				
OR51E1	143503	broad.mit.edu	37	11	4674254	4674254	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:4674254C>G	ENST00000396952.5	+	2	1148	c.498C>G	c.(496-498)atC>atG	p.I166M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I165M(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCTTCATCAAGCAGCTGC	0.552																																							uc001lzi.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|pancreas(1)	4						c.(496-498)ATC>ATG		olfactory receptor, family 51, subfamily E,							187.0	155.0	166.0					11																	4674254		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674254C>G	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.498C>G	11.37:g.4674254C>G	ENSP00000380155:p.Ile166Met						p.I166M	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	642	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	165			Extracellular (Potential).		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.498C>G	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909668	0.52439	.	.	ENSG00000180785	ENST00000396952	T	0.72615	-0.67	4.98	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.495729	0.18632	N	0.135545	T	0.75874	0.3909	L	0.48877	1.53	0.80722	D	1	D	0.53151	0.958	P	0.58210	0.835	T	0.77621	-0.2519	10	0.87932	D	0	.	13.0033	0.58690	0.1764:0.8236:0.0:0.0	.	165	Q8TCB6	O51E1_HUMAN	M	166	ENSP00000380155:I166M	ENSP00000380155:I166M	I	+	3	3	OR51E1	4630830	0.000000	0.05858	0.999000	0.59377	0.991000	0.79684	-1.892000	0.01610	1.268000	0.44264	0.655000	0.94253	ATC		0.552	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		26	106	0	0	0	0.005443	0	26	106				
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	G	A	rs371119617		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:4936270G>A	ENST00000322013.3	-	1	652	c.624C>T	c.(622-624)atC>atT	p.I208I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I208I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTAGAGACGATGACAAACA	0.512																																							uc001lzr.1		NA																	3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	skin(2)	2						c.(622-624)ATC>ATT		olfactory receptor, family 51, subfamily G,		G		2,4400	4.2+/-10.8	0,2,2199	135.0	109.0	118.0		624	-1.6	0.2	11		118	0,8596		0,0,4298	no	coding-synonymous	OR51G2	NM_001005238.1		0,2,6497	AA,AG,GG		0.0,0.0454,0.0154		208/315	4936270	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936270G>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.624C>T	11.37:g.4936270G>A							p.I208I	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	624	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	208			Helical; Name=5; (Potential).		Q6IFH7	Silent	SNP	ENST00000322013.3	37	c.624C>T	CCDS31365.1																																																																																				0.512	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		9	34	0	0	0	0.004482	0	9	34				
OR51B6	390058	broad.mit.edu	37	11	5373536	5373536	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:5373536C>T	ENST00000380219.1	+	1	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P267S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCATGTTCCTCATGTCGT	0.408																																							uc010qzb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(799-801)CCT>TCT		olfactory receptor, family 51, subfamily B,							229.0	205.0	213.0					11																	5373536		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373536C>T		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.799C>T	11.37:g.5373536C>T	ENSP00000369568:p.Pro267Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.P267S	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	799	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	267			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380219.1	37	c.799C>T	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	C	6.584	0.476087	0.12521	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00017	9.09	5.13	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.263142	0.27284	N	0.020068	T	0.00144	0.0004	L	0.35288	1.05	0.09310	N	1	D	0.53462	0.96	P	0.54924	0.764	T	0.48833	-0.9000	10	0.16420	T	0.52	.	5.6125	0.17414	0.0:0.667:0.1616:0.1714	.	267	Q9H340	O51B6_HUMAN	S	266;267	ENSP00000369568:P267S	ENSP00000369568:P267S	P	+	1	0	OR51B6	5330112	0.055000	0.20627	0.968000	0.41197	0.946000	0.59487	0.646000	0.24797	1.386000	0.46466	0.650000	0.86243	CCT		0.408	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		13	46	0	0	0	0.001855	0	13	46				
OR52L1	338751	broad.mit.edu	37	11	6007293	6007293	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6007293C>T	ENST00000332249.4	-	1	922	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V275I(2)|p.V290I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACATGGACATGATGGGGT	0.502																																					Melanoma(121;653 1666 10547 22796 51255)	Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)|pancreas(1)	2						c.(868-870)GTC>ATC		olfactory receptor, family 52, subfamily L,							97.0	97.0	97.0					11																	6007293		2091	4244	6335	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007293C>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.868G>A	11.37:g.6007293C>T	ENSP00000330338:p.Val290Ile						p.V290I	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	923	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	290			Extracellular (Potential).		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.868G>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.004718	0.00431	.	.	ENSG00000183313	ENST00000332249	T	0.00058	8.79	4.1	0.8	0.18672	GPCR, rhodopsin-like superfamily (1);	0.185259	0.26116	N	0.026250	T	0.00073	0.0002	N	0.12611	0.24	0.09310	N	0.999994	B	0.06786	0.001	B	0.12156	0.007	T	0.36625	-0.9740	10	0.02654	T	1	.	5.0995	0.14753	0.0:0.5611:0.1546:0.2843	.	290	Q8NGH7	O52L1_HUMAN	I	290	ENSP00000330338:V290I	ENSP00000330338:V290I	V	-	1	0	OR52L1	5963869	0.000000	0.05858	0.939000	0.37840	0.010000	0.07245	-2.535000	0.00940	0.297000	0.22615	0.313000	0.20887	GTC		0.502	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		5	13	0	0	0	0.000602	0	5	13				
OR52L1	338751	broad.mit.edu	37	11	6007353	6007353	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6007353A>T	ENST00000332249.4	-	1	862	c.808T>A	c.(808-810)Tat>Aat	p.Y270N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y255N(2)|p.Y270N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGACATAGAAGACCAGG	0.517																																					Melanoma(121;653 1666 10547 22796 51255)	Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)|pancreas(1)	2						c.(808-810)TAT>AAT		olfactory receptor, family 52, subfamily L,							132.0	132.0	132.0					11																	6007353		2074	4239	6313	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007353A>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.808T>A	11.37:g.6007353A>T	ENSP00000330338:p.Tyr270Asn						p.Y270N	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	863	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	270			Helical; Name=6; (Potential).		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.808T>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880780	0.33255	.	.	ENSG00000183313	ENST00000332249	T	0.41400	1.0	3.95	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39687	N	0.001296	T	0.76955	0.4060	H	0.98936	4.375	0.35028	D	0.758493	D	0.89917	1.0	D	0.91635	0.999	D	0.88517	0.3093	10	0.87932	D	0	.	11.9438	0.52915	1.0:0.0:0.0:0.0	.	270	Q8NGH7	O52L1_HUMAN	N	270	ENSP00000330338:Y270N	ENSP00000330338:Y270N	Y	-	1	0	OR52L1	5963929	0.977000	0.34250	1.000000	0.80357	0.229000	0.25112	3.017000	0.49615	1.558000	0.49541	0.260000	0.18958	TAT		0.517	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		11	40	0	0	0	0.008291	0	11	40				
OR56B4	196335	broad.mit.edu	37	11	6129473	6129473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6129473G>T	ENST00000316529.3	+	1	560	c.465G>T	c.(463-465)atG>atT	p.M155I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M155I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCATCATGCTCAGGAATG	0.502																																							uc010qzx.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(463-465)ATG>ATT		olfactory receptor, family 56, subfamily B,							121.0	109.0	113.0					11																	6129473		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129473G>T	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.465G>T	11.37:g.6129473G>T	ENSP00000321196:p.Met155Ile						p.M155I	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	465	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	155			Helical; Name=4; (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.465G>T	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	G	1.110	-0.658451	0.03454	.	.	ENSG00000180919	ENST00000316529	T	0.35973	1.28	4.06	0.984	0.19773	GPCR, rhodopsin-like superfamily (1);	0.497927	0.14571	N	0.311427	T	0.12263	0.0298	N	0.01789	-0.72	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24941	-1.0146	10	0.28530	T;T	0.3;0.3	.	5.5615	0.17146	0.2502:0.2675:0.4823:0.0	.	155	Q8NH76	O56B4_HUMAN	I	155	ENSP00000321196:M155I	ENSP00000321196:M155I;ENSP00000321196:M155I	M	+	3	0	OR56B4	6086049	0.000000	0.05858	0.346000	0.25655	0.005000	0.04900	-1.638000	0.02013	0.099000	0.17552	0.556000	0.70494	ATG		0.502	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		22	64	1	0	1.96292e-10	0.010504	2.40927e-10	22	64				
FAM160A2	84067	broad.mit.edu	37	11	6238941	6238941	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6238941C>A	ENST00000449352.2	-	9	2138	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	FAM160A2_ENST00000265978.4_Missense_Mutation_p.E639D|FAM160A2_ENST00000524416.1_Missense_Mutation_p.E625D|FAM160A2_ENST00000529360.1_5'Flank			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	625					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACCAGGGccctcccctgcac	0.662																																							uc001mcl.3		NA																	0				skin(2)	2						c.(1873-1875)GAG>GAT		hypothetical protein LOC84067 isoform 2							16.0	18.0	18.0					11																	6238941		2191	4277	6468	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6238941C>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1875G>T	11.37:g.6238941C>A	ENSP00000416918:p.Glu625Asp					FAM160A2_uc001mck.3_Missense_Mutation_p.E639D|FAM160A2_uc001mcm.2_Missense_Mutation_p.E625D	p.E625D	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			9	2234	-			625					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.1875G>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	1.804	-0.476324	0.04414	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.41758	0.99;0.99;0.99	5.31	3.4	0.38934	.	0.811627	0.12077	N	0.501674	T	0.29061	0.0722	L	0.36672	1.1	0.21220	N	0.999751	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.27839	-1.0062	10	0.12766	T	0.61	-10.9325	7.4404	0.27179	0.1709:0.7436:0.0:0.0855	.	625;625;639	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	D	625;550;639;625	ENSP00000416918:E625D;ENSP00000265978:E639D;ENSP00000431773:E625D	ENSP00000265978:E639D	E	-	3	2	FAM160A2	6195517	0.314000	0.24563	0.997000	0.53966	0.517000	0.34286	0.657000	0.24963	0.771000	0.33359	0.561000	0.74099	GAG		0.662	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		6	24	1	0	0.00116845	0.001168	0.00122497	6	24				
DNHD1	144132	broad.mit.edu	37	11	6588332	6588332	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6588332A>T	ENST00000527990.2	+	34	11593	c.11593A>T	c.(11593-11595)Agc>Tgc	p.S3865C	DNHD1_ENST00000254579.6_Missense_Mutation_p.S3865C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3865					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.S3865C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAAGGCCCTAAGCCAACTGCA	0.507																																							uc001mdw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(11593-11595)AGC>TGC		dynein heavy chain domain 1 isoform 1							97.0	98.0	98.0					11																	6588332		1974	4164	6138	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588332A>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11593A>T	11.37:g.6588332A>T	ENSP00000436180:p.Ser3865Cys					DNHD1_uc001mea.3_Missense_Mutation_p.S134C|DNHD1_uc001meb.2_Missense_Mutation_p.S133C|DNHD1_uc001mec.2_Missense_Mutation_p.S133C|DNHD1_uc010rao.1_Missense_Mutation_p.S123C|DNHD1_uc009yfg.2_5'Flank	p.S3865C	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12157	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3865					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11593A>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.976966	0.53720	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.30714	1.52;1.52	4.78	2.22	0.28083	.	0.538687	0.17147	N	0.185221	T	0.35451	0.0932	L	0.29908	0.895	0.22389	N	0.999148	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.70716	0.841;0.97;0.841	T	0.06092	-1.0846	10	0.72032	D	0.01	-2.7746	4.5264	0.11983	0.5985:0.1907:0.0:0.2108	.	2953;133;3865	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	C	3865;3865;133;133	ENSP00000254579:S3865C;ENSP00000436180:S3865C	ENSP00000254579:S3865C	S	+	1	0	DNHD1	6544908	0.010000	0.17322	0.988000	0.46212	0.923000	0.55619	0.482000	0.22276	0.820000	0.34516	0.459000	0.35465	AGC		0.507	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		16	77	0	0	0	0.003163	0	16	77				
OR10A4	283297	broad.mit.edu	37	11	6897968	6897968	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:6897968C>T	ENST00000379829.2	+	1	113	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	30					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L30L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTGTTTCTCCTTTTCTTGA	0.443																																							uc010rat.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(88-90)CTC>CTT		olfactory receptor, family 10, subfamily A,							193.0	180.0	184.0					11																	6897968		2201	4296	6497	SO:0001819	synonymous_variant	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6897968C>T	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.90C>T	11.37:g.6897968C>T							p.L30L	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	90	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	30			Helical; Name=1; (Potential).		B2RNP5|B9EH36|Q96R20	Silent	SNP	ENST00000379829.2	37	c.90C>T	CCDS7774.1																																																																																				0.443	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		20	105	0	0	0	0.007413	0	20	105				
HPS5	11234	broad.mit.edu	37	11	18313334	18313334	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18313334C>T	ENST00000349215.3	-	16	2372	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.E585K|HPS5_ENST00000396253.3_Missense_Mutation_p.E585K	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	699					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.E699K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAGATTCTTCATTGCCTAAA	0.363									Hermansky-Pudlak syndrome																														uc001mod.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(2095-2097)GAA>AAA		Hermansky-Pudlak syndrome 5 isoform a							122.0	108.0	113.0					11																	18313334		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313334C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2095G>A	11.37:g.18313334C>T	ENSP00000265967:p.Glu699Lys					HPS5_uc001moe.1_Missense_Mutation_p.E585K|HPS5_uc001mof.1_Missense_Mutation_p.E585K	p.E699K	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			16	2373	-			699					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2095G>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689175	0.29962	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.80214	-1.35;-1.35;-1.35	5.74	3.89	0.44902	.	0.391711	0.28365	N	0.015605	T	0.73497	0.3594	L	0.60455	1.87	0.80722	D	1	B	0.34103	0.437	B	0.28638	0.092	T	0.68922	-0.5281	10	0.35671	T	0.21	.	10.6462	0.45621	0.0:0.8526:0.0:0.1474	.	699	Q9UPZ3	HPS5_HUMAN	K	585;585;699	ENSP00000379552:E585K;ENSP00000399590:E585K;ENSP00000265967:E699K	ENSP00000265967:E699K	E	-	1	0	HPS5	18269910	0.676000	0.27567	0.894000	0.35097	0.143000	0.21401	1.213000	0.32407	0.790000	0.33803	0.655000	0.94253	GAA		0.363	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		17	43	0	0	0	0.004007	0	17	43				
HPS5	11234	broad.mit.edu	37	11	18316688	18316688	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18316688C>T	ENST00000349215.3	-	14	1940	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.E441K|HPS5_ENST00000396253.3_Missense_Mutation_p.E441K	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	555					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.E555K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAATCTTCTCAGTAGTTTTA	0.398									Hermansky-Pudlak syndrome																														uc001mod.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(1663-1665)GAG>AAG		Hermansky-Pudlak syndrome 5 isoform a							92.0	80.0	84.0					11																	18316688		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18316688C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1663G>A	11.37:g.18316688C>T	ENSP00000265967:p.Glu555Lys					HPS5_uc001moe.1_Missense_Mutation_p.E441K|HPS5_uc001mof.1_Missense_Mutation_p.E441K	p.E555K	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			14	1941	-			555					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1663G>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546032	0.96488	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.64438	-0.1;-0.1;-0.07	5.83	5.83	0.93111	.	0.161832	0.56097	D	0.000023	T	0.79167	0.4400	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.79509	-0.1774	10	0.72032	D	0.01	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	555	Q9UPZ3	HPS5_HUMAN	K	441;441;555	ENSP00000379552:E441K;ENSP00000399590:E441K;ENSP00000265967:E555K	ENSP00000265967:E555K	E	-	1	0	HPS5	18273264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.201000	0.77847	2.763000	0.94921	0.563000	0.77884	GAG		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		10	38	0	0	0	0.006214	0	10	38				
HPS5	11234	broad.mit.edu	37	11	18327041	18327041	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:18327041C>T	ENST00000349215.3	-	8	1102		c.e8-1		HPS5_ENST00000531848.1_Splice_Site|HPS5_ENST00000438420.2_Splice_Site|HPS5_ENST00000396253.3_Splice_Site	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5						blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTTCTGATCTAGAAAGTAA	0.343									Hermansky-Pudlak syndrome																														uc001mod.1		NA																	1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.e8-1		Hermansky-Pudlak syndrome 5 isoform a							92.0	88.0	90.0					11																	18327041		2199	4292	6491	SO:0001630	splice_region_variant	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18327041C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.825-1G>A	11.37:g.18327041C>T						HPS5_uc001moe.1_Splice_Site_p.R161_splice|HPS5_uc001mof.1_Splice_Site_p.R161_splice	p.R275_splice	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			8	1103	-								A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Splice_Site	SNP	ENST00000349215.3	37	c.825_splice	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448480	0.84101	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1236	0.93374	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HPS5	18283617	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.823000	0.55715	2.833000	0.97629	0.585000	0.79938	.		0.343	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507	Intron	4	25	0	0	0	0.009096	0	4	25				
ANO5	203859	broad.mit.edu	37	11	22248914	22248914	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:22248914G>T	ENST00000324559.8	+	7	747	c.430G>T	c.(430-432)Gct>Tct	p.A144S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	144					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.A144S(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTTACCTATGCTGAAGTCTT	0.433																																							uc001mqi.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(430-432)GCT>TCT		anoctamin 5 isoform a							147.0	144.0	145.0					11																	22248914		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22248914G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.430G>T	11.37:g.22248914G>T	ENSP00000315371:p.Ala144Ser					ANO5_uc001mqj.2_Missense_Mutation_p.A143S	p.A144S	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			7	747	+			144			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.430G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305538	0.95601	.	.	ENSG00000171714	ENST00000324559	T	0.57752	0.38	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78780	-0.2070	10	0.72032	D	0.01	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	144	Q75V66	ANO5_HUMAN	S	144	ENSP00000315371:A144S	ENSP00000315371:A144S	A	+	1	0	ANO5	22205490	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.177000	0.94849	2.764000	0.94973	0.650000	0.86243	GCT		0.433	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		14	38	1	0	8.60227e-14	0.004007	1.11224e-13	14	38				
DCDC1	341019	broad.mit.edu	37	11	31115602	31115602	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:31115602T>A	ENST00000597505.1	-	14	2112	c.2113A>T	c.(2113-2115)Acc>Tcc	p.T705S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.T324S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGTACCTTGGTGATCAGCCAC	0.537																																							uc009yjk.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(457-459)ACC>TCC		RecName: Full=Doublecortin domain-containing protein 5;							118.0	121.0	120.0					11																	31115602		2165	4265	6430	SO:0001583	missense	0							g.chr11:31115602T>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2113A>T	11.37:g.31115602T>A	ENSP00000472625:p.Thr705Ser					uc009yjl.1_Missense_Mutation_p.T81S|DCDC1_uc001msu.1_Missense_Mutation_p.T324S	p.T153S							4	526	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.457A>T																																																																																					0.537	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		12	72	0	0	0	0.001855	0	12	72				
KIAA1549L	25758	broad.mit.edu	37	11	33565707	33565707	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:33565707T>A	ENST00000321505.4	+	1	1887	c.1707T>A	c.(1705-1707)gaT>gaA	p.D569E	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D569E|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D569E			Q6ZVL6	K154L_HUMAN	KIAA1549-like	569						integral component of membrane (GO:0016021)		p.D569E(2)									ATGGAACAGATACAGGTTCTG	0.453																																							uc001mup.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1705-1707)GAT>GAA		hypothetical protein LOC25758							120.0	118.0	119.0					11																	33565707		1943	4142	6085	SO:0001583	missense	25758					integral to membrane		g.chr11:33565707T>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1707T>A	11.37:g.33565707T>A	ENSP00000315295:p.Asp569Glu					C11orf41_uc001mun.1_Missense_Mutation_p.D569E	p.D569E	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	1831	+			569					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.1707T>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	T	4.571	0.106036	0.08780	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.7	1.62	0.23740	.	0.212841	0.32753	N	0.005685	T	0.20292	0.0488	L	0.48877	1.53	0.09310	N	1	B;P	0.35155	0.024;0.487	B;B	0.30943	0.012;0.122	T	0.08785	-1.0705	9	0.14656	T	0.56	-2.7406	1.6987	0.02867	0.1169:0.2217:0.167:0.4944	.	569;569	E9PAT2;Q6ZVL6-2	.;.	E	569;569;569;409	.	ENSP00000265654:D569E	D	+	3	2	C11orf41	33522283	0.000000	0.05858	0.003000	0.11579	0.608000	0.37181	-0.307000	0.08167	0.294000	0.22547	0.363000	0.22086	GAT		0.453	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		14	69	0	0	0	0.001855	0	14	69				
PDHX	8050	broad.mit.edu	37	11	34969155	34969155	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:34969155T>C	ENST00000227868.4	+	3	426		c.e3+2		PDHX_ENST00000448838.3_Splice_Site|PDHX_ENST00000430469.2_Splice_Site			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X						cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AAAATCGTGGTAAGTTTTTAT	0.348																																							uc001mvt.2		NA																	0				kidney(1)	1						c.e3+2		pyruvate dehydrogenase complex, component X							144.0	137.0	140.0					11																	34969155		2202	4298	6500	SO:0001630	splice_region_variant	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34969155T>C	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.342+2T>C	11.37:g.34969155T>C						PDHX_uc010rep.1_Splice_Site_p.V99_splice|PDHX_uc010req.1_Splice_Site_p.V114_splice	p.V114_splice	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		3	868	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)						B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Splice_Site	SNP	ENST00000227868.4	37	c.342_splice	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838971	0.51057	.	.	ENSG00000110435	ENST00000533550;ENST00000448838;ENST00000227868;ENST00000430469;ENST00000533262	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3612	0.74475	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDHX	34925731	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	5.313000	0.65798	2.269000	0.75478	0.454000	0.30748	.		0.348	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477	Intron	3	64	0	0	0	0.004672	0	3	64				
RAG2	5897	broad.mit.edu	37	11	36614834	36614834	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:36614834G>T	ENST00000311485.3	-	2	1046	c.885C>A	c.(883-885)aaC>aaA	p.N295K	C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	295					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.N295K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTCTATCTTGTTGTCCTCTA	0.388									Familial Hemophagocytic Lymphohistiocytosis																														uc001mwv.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|pancreas(1)	5						c.(883-885)AAC>AAA		recombination activating gene 2							137.0	133.0	134.0					11																	36614834		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614834G>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.885C>A	11.37:g.36614834G>T	ENSP00000308620:p.Asn295Lys					C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.N295K	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	1073	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	295					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.885C>A	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401137	0.42613	.	.	ENSG00000175097	ENST00000311485	T	0.74947	-0.89	5.13	3.25	0.37280	Galactose oxidase/kelch, beta-propeller (1);	0.424462	0.26784	N	0.022513	T	0.73621	0.3610	L	0.39245	1.2	0.35718	D	0.816952	D	0.55800	0.973	P	0.54924	0.764	T	0.77448	-0.2584	10	0.54805	T	0.06	4.0E-4	9.6843	0.40089	0.2455:0.0:0.7545:0.0	.	295	P55895	RAG2_HUMAN	K	295	ENSP00000308620:N295K	ENSP00000308620:N295K	N	-	3	2	RAG2	36571410	1.000000	0.71417	0.880000	0.34516	0.900000	0.52787	0.942000	0.29017	0.541000	0.28827	0.650000	0.86243	AAC		0.388	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		45	139	1	0	3.76604e-16	0.010771	4.98022e-16	45	139				
MYBPC3	4607	broad.mit.edu	37	11	47367838	47367838	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:47367838G>C	ENST00000545968.1	-	12	1064	c.1010C>G	c.(1009-1011)gCc>gGc	p.A337G	MYBPC3_ENST00000399249.2_Missense_Mutation_p.A337G|MYBPC3_ENST00000256993.4_Missense_Mutation_p.A337G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	337					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A337G(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTACTGGAAGGCGATGCGCTC	0.612																																							uc001nfa.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1009-1011)GCC>GGC		myosin binding protein C, cardiac							61.0	66.0	64.0					11																	47367838		2174	4279	6453	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47367838G>C	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1010C>G	11.37:g.47367838G>C	ENSP00000442795:p.Ala337Gly						p.A337G	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	12	1065	-			337					A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.1010C>G	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984383	0.93044	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.65364	-0.15;-0.15;0.02	4.7	4.7	0.59300	.	.	.	.	.	T	0.69646	0.3134	M	0.80982	2.52	0.80722	D	1	P	0.36438	0.553	B	0.40134	0.32	T	0.76200	-0.3046	9	0.87932	D	0	.	17.8267	0.88667	0.0:0.0:1.0:0.0	.	337	Q14896	MYPC3_HUMAN	G	337	ENSP00000442795:A337G;ENSP00000382193:A337G;ENSP00000256993:A337G	ENSP00000256993:A337G	A	-	2	0	MYBPC3	47324414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.835000	0.92100	2.441000	0.82636	0.511000	0.50034	GCC		0.612	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			12	18	0	0	0	0.010729	0	12	18				
OR4S2	219431	broad.mit.edu	37	11	55418972	55418972	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:55418972C>A	ENST00000312422.2	+	1	593	c.593C>A	c.(592-594)aCa>aAa	p.T198K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T198K(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTGTTGTGACAGCCAACAGT	0.453																																							uc001nhs.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(592-594)ACA>AAA		olfactory receptor, family 4, subfamily S,							246.0	186.0	207.0					11																	55418972		2179	4046	6225	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418972C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.593C>A	11.37:g.55418972C>A	ENSP00000310337:p.Thr198Lys						p.T198K	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	593	+		all_epithelial(135;0.0748)	198			Helical; Name=5; (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.593C>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735545	0.49045	.	.	ENSG00000174982	ENST00000312422	T	0.00169	8.63	5.24	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.00300	0.0009	L	0.59436	1.845	0.20196	N	0.999923	D	0.53462	0.96	P	0.55713	0.782	T	0.47935	-0.9078	10	0.87932	D	0	.	6.7947	0.23719	0.0:0.6109:0.0:0.3891	.	198	Q8NH73	OR4S2_HUMAN	K	198	ENSP00000310337:T198K	ENSP00000310337:T198K	T	+	2	0	OR4S2	55175548	0.000000	0.05858	0.989000	0.46669	0.587000	0.36485	-0.024000	0.12435	0.570000	0.29347	0.542000	0.68232	ACA		0.453	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		28	90	1	0	2.44723e-14	0.004656	3.18118e-14	28	90				
OR5W2	390148	broad.mit.edu	37	11	55681456	55681456	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:55681456G>A	ENST00000344514.1	-	1	602	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T201T(3)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACCAAAGACGGTGAATAACA	0.388																																					Melanoma(48;171 1190 15239 43886 49348)	Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(601-603)ACC>ACT		olfactory receptor, family 5, subfamily W,							61.0	63.0	62.0					11																	55681456		2201	4296	6497	SO:0001819	synonymous_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681456G>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.603C>T	11.37:g.55681456G>A							p.T201T	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	603	-			201			Helical; Name=5; (Potential).			Silent	SNP	ENST00000344514.1	37	c.603C>T	CCDS31513.1																																																																																				0.388	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		7	19	0	0	0	0.004482	0	7	19				
OR5M11	219487	broad.mit.edu	37	11	56310672	56310672	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56310672G>A	ENST00000528616.2	-	1	85	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P21L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTGGAGTTCCGGGCAATCTGT	0.458																																							uc010rjl.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(61-63)CCG>CTG		olfactory receptor, family 5, subfamily M,							90.0	89.0	89.0					11																	56310672		1970	4176	6146	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310672G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.62C>T	11.37:g.56310672G>A	ENSP00000432417:p.Pro21Leu						p.P21L	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	62	-			21			Extracellular (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.62C>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	2.319	-0.356028	0.05138	.	.	ENSG00000255223	ENST00000528616	T	0.00421	7.46	5.1	4.16	0.48862	.	.	.	.	.	T	0.00440	0.0014	M	0.62209	1.925	0.09310	N	1	B	0.15719	0.014	B	0.15484	0.013	T	0.41963	-0.9479	9	0.59425	D	0.04	.	8.7517	0.34620	0.0:0.3085:0.5325:0.1591	.	21	Q96RB7	OR5MB_HUMAN	L	21	ENSP00000432417:P21L	ENSP00000432417:P21L	P	-	2	0	OR5M11	56067248	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.293000	0.19029	1.348000	0.45733	0.632000	0.83419	CCG		0.458	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		10	42	0	0	0	0.008291	0	10	42				
OR5M1	390168	broad.mit.edu	37	11	56380893	56380893	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56380893C>A	ENST00000526538.1	-	1	85	c.86G>T	c.(85-87)gGg>gTg	p.G29V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G29V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGGAATACCCCAAACAGGAT	0.473																																							uc001nja.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(85-87)GGG>GTG		olfactory receptor, family 5, subfamily M,							177.0	168.0	171.0					11																	56380893		1955	4138	6093	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380893C>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.86G>T	11.37:g.56380893C>A	ENSP00000435416:p.Gly29Val						p.G29V	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	86	-			29			Helical; Name=1; (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.86G>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.119622	0.00346	.	.	ENSG00000255012	ENST00000526538	T	0.00380	7.64	3.71	-0.0131	0.13985	.	0.413769	0.17737	N	0.163718	T	0.00073	0.0002	N	0.00771	-1.2	0.27114	N	0.962304	B	0.02656	0.0	B	0.01281	0.0	T	0.32161	-0.9917	10	0.02654	T	1	-6.0409	7.2976	0.26401	0.4319:0.4385:0.1296:0.0	.	29	Q8NGP8	OR5M1_HUMAN	V	29	ENSP00000435416:G29V	ENSP00000435416:G29V	G	-	2	0	OR5M1	56137469	0.000000	0.05858	0.796000	0.32109	0.441000	0.31987	-0.121000	0.10643	0.212000	0.20703	0.280000	0.19369	GGG		0.473	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		10	32	1	0	1.58986e-06	0.008291	1.81627e-06	10	32				
LRRC55	219527	broad.mit.edu	37	11	56949837	56949837	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:56949837G>C	ENST00000497933.1	+	1	617	c.470G>C	c.(469-471)cGc>cCc	p.R157P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	127					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R157P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGCCAAGCGCTTGGCACAC	0.577																																							uc001njl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(469-471)CGC>CCC		leucine rich repeat containing 55							36.0	35.0	36.0					11																	56949837		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949837G>C		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.470G>C	11.37:g.56949837G>C	ENSP00000419542:p.Arg157Pro						p.R157P	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	617	+			127			LRR 3.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.470G>C	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331173	0.60853	.	.	ENSG00000183908	ENST00000497933	T	0.58358	0.34	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000024	T	0.71178	0.3309	M	0.83692	2.655	0.36855	D	0.888092	P	0.41131	0.739	P	0.54889	0.763	T	0.77846	-0.2436	10	0.72032	D	0.01	.	14.6543	0.68823	0.0:0.1454:0.8546:0.0	.	127	Q6ZSA7	LRC55_HUMAN	P	157	ENSP00000419542:R157P	ENSP00000419542:R157P	R	+	2	0	LRRC55	56706413	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	1.893000	0.39758	2.793000	0.96121	0.655000	0.94253	CGC		0.577	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		10	27	0	0	0	0.006214	0	10	27				
CTNND1	1500	broad.mit.edu	37	11	57572182	57572182	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:57572182G>A	ENST00000399050.4	+	9	2188	c.1652G>A	c.(1651-1653)tGt>tAt	p.C551Y	CTNND1_ENST00000529526.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000528621.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000526772.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000524630.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000534579.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.C551Y|CTNND1_ENST00000533667.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.C551Y|CTNND1_ENST00000527467.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.C551Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.C450Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000531014.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.C450Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.C497Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.C551Y|CTNND1_ENST00000525902.1_Missense_Mutation_p.C228Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.C551Y	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	551					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.C551Y(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTCGGGAATGTGATGGTTTA	0.463																																							uc001nmc.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(4)|ovary(1)|kidney(1)	6						c.(1651-1653)TGT>TAT		catenin, delta 1 isoform 1ABC							165.0	158.0	160.0					11																	57572182		1898	4124	6022	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57572182G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1652G>A	11.37:g.57572182G>A	ENSP00000382004:p.Cys551Tyr					CTNND1_uc001nlh.1_Missense_Mutation_p.C551Y|CTNND1_uc001nlu.3_Missense_Mutation_p.C450Y|CTNND1_uc001nlt.3_Missense_Mutation_p.C450Y|CTNND1_uc001nls.3_Missense_Mutation_p.C450Y|CTNND1_uc001nlw.3_Missense_Mutation_p.C450Y|CTNND1_uc001nmf.3_Missense_Mutation_p.C551Y|CTNND1_uc001nmd.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlk.3_Missense_Mutation_p.C497Y|CTNND1_uc001nme.3_Missense_Mutation_p.C551Y|CTNND1_uc001nll.3_Missense_Mutation_p.C497Y|CTNND1_uc001nmg.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlj.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlr.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlp.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlx.3_Missense_Mutation_p.C228Y|CTNND1_uc001nlz.3_Missense_Mutation_p.C228Y|CTNND1_uc009ymn.2_Missense_Mutation_p.C228Y|CTNND1_uc001nlm.3_Missense_Mutation_p.C551Y|CTNND1_uc001nly.3_Missense_Mutation_p.C228Y|CTNND1_uc001nmb.3_Missense_Mutation_p.C228Y|CTNND1_uc001nma.3_Missense_Mutation_p.C228Y|CTNND1_uc001nmi.3_Missense_Mutation_p.C450Y|CTNND1_uc001nmh.3_Missense_Mutation_p.C551Y|CTNND1_uc001nlq.3_Missense_Mutation_p.C450Y|CTNND1_uc001nln.3_Missense_Mutation_p.C551Y|CTNND1_uc001nli.3_Missense_Mutation_p.C551Y|CTNND1_uc001nlo.3_Missense_Mutation_p.C450Y|CTNND1_uc001nlv.3_Missense_Mutation_p.C450Y	p.C551Y	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			9	2223	+		all_epithelial(135;0.155)	551			ARM 5.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1652G>A	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908170	0.92107	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90137	0.6918	M	0.79343	2.45	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.996;0.998;0.998;0.998;1.0;0.998;0.996	D	0.91121	0.4930	10	0.87932	D	0	-10.7862	18.7997	0.92011	0.0:0.0:1.0:0.0	.	551;551;551;450;497;497;551;551;551	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	Y	551;551;551;551;551;497;450;551;551;551;450;450;551;450;228;497;497;497;551;228;450;228;228;497;228;497;497;450;450;450;497;551	ENSP00000436543:C551Y;ENSP00000434808:C551Y;ENSP00000381996:C551Y;ENSP00000353902:C551Y;ENSP00000354907:C551Y;ENSP00000436323:C497Y;ENSP00000409930:C450Y;ENSP00000382004:C551Y;ENSP00000354785:C551Y;ENSP00000354823:C551Y;ENSP00000432075:C450Y;ENSP00000437156:C450Y;ENSP00000351527:C551Y;ENSP00000434949:C450Y;ENSP00000437051:C228Y;ENSP00000435379:C497Y;ENSP00000432243:C497Y;ENSP00000436744:C497Y;ENSP00000413586:C551Y;ENSP00000434900:C228Y;ENSP00000435266:C450Y;ENSP00000432623:C228Y;ENSP00000433158:C228Y;ENSP00000435494:C497Y;ENSP00000434672:C228Y;ENSP00000433276:C497Y;ENSP00000433334:C497Y;ENSP00000437327:C450Y;ENSP00000403518:C450Y;ENSP00000434017:C450Y;ENSP00000435789:C497Y;ENSP00000432041:C551Y	ENSP00000351527:C551Y	C	+	2	0	CTNND1	57328758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	2.518000	0.84900	0.552000	0.68991	TGT		0.463	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		6	22	0	0	0	0.001984	0	6	22				
OR10Q1	219960	broad.mit.edu	37	11	57995949	57995949	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:57995949C>T	ENST00000316770.2	-	1	441	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P133P(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTAGTGCAGCGGGTGGCAGA	0.612																																							uc010rkd.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(397-399)CCG>CCA		olfactory receptor, family 10, subfamily Q,							78.0	66.0	70.0					11																	57995949		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995949C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.399G>A	11.37:g.57995949C>T							p.P133P	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	399	-		Breast(21;0.0589)	133			Cytoplasmic (Potential).		Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.399G>A	CCDS31547.1																																																																																				0.612	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		13	24	0	0	0	0.013537	0	13	24				
OR5B21	219968	broad.mit.edu	37	11	58275103	58275103	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58275103G>T	ENST00000360374.2	-	1	475	c.476C>A	c.(475-477)gCa>gAa	p.A159E		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A159E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAGGTGCCTGCTGCATGGAT	0.507																																							uc010rki.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(475-477)GCA>GAA		olfactory receptor, family 5, subfamily B,							87.0	73.0	78.0					11																	58275103		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275103G>T		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.476C>A	11.37:g.58275103G>T	ENSP00000353537:p.Ala159Glu						p.A159E	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	476	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	159			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.476C>A	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	G	9.586	1.124848	0.20959	.	.	ENSG00000198283	ENST00000360374	T	0.38240	1.15	5.04	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.473448	0.15631	U	0.252374	T	0.41627	0.1167	M	0.81239	2.535	0.09310	N	1	P	0.34615	0.459	B	0.39027	0.288	T	0.27157	-1.0082	10	0.30854	T	0.27	-5.2564	9.8674	0.41152	0.0812:0.4186:0.5003:0.0	.	159	A6NL26	OR5BL_HUMAN	E	159	ENSP00000353537:A159E	ENSP00000353537:A159E	A	-	2	0	OR5B21	58031679	0.000000	0.05858	0.359000	0.25824	0.445000	0.32107	-0.913000	0.04042	0.673000	0.31224	0.655000	0.94253	GCA		0.507	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		12	34	1	0	2.27111e-07	0.013537	2.64023e-07	12	34				
OR5B21	219968	broad.mit.edu	37	11	58275540	58275540	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58275540C>G	ENST00000360374.2	-	1	38	c.39G>C	c.(37-39)ttG>ttC	p.L13F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTTAATCCCAAGAGGATAA	0.443																																							uc010rki.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(37-39)TTG>TTC		olfactory receptor, family 5, subfamily B,							48.0	47.0	47.0					11																	58275540		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275540C>G		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.39G>C	11.37:g.58275540C>G	ENSP00000353537:p.Leu13Phe						p.L13F	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	39	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	13			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.39G>C	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205669	0.58234	.	.	ENSG00000198283	ENST00000360374	T	0.00637	6.05	5.08	5.08	0.68730	.	0.000000	0.28871	U	0.013872	T	0.02012	0.0063	M	0.81497	2.545	0.22896	N	0.998592	P	0.45176	0.852	P	0.49637	0.617	T	0.22556	-1.0213	10	0.87932	D	0	-5.5165	10.7364	0.46128	0.0:0.9128:0.0:0.0872	.	13	A6NL26	OR5BL_HUMAN	F	13	ENSP00000353537:L13F	ENSP00000353537:L13F	L	-	3	2	OR5B21	58032116	0.000000	0.05858	0.634000	0.29324	0.919000	0.55068	-0.379000	0.07437	2.639000	0.89480	0.655000	0.94253	TTG		0.443	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		12	34	0	0	0	0.013537	0	12	34				
GLYAT	10249	broad.mit.edu	37	11	58477469	58477469	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58477469G>C	ENST00000344743.3	-	6	802	c.661C>G	c.(661-663)Cta>Gta	p.L221V	GLYAT_ENST00000529732.1_Missense_Mutation_p.L221V	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	221					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.L221V(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGGTCCATTAGATCCCAGCAC	0.552																																							uc001nnb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(661-663)CTA>GTA		glycine-N-acyltransferase isoform a	Glycine(DB00145)						68.0	70.0	69.0					11																	58477469		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58477469G>C	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.661C>G	11.37:g.58477469G>C	ENSP00000340200:p.Leu221Val						p.L221V	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			6	816	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	221					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.661C>G	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	6.943	0.543760	0.13312	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.17854	2.25;2.25	6.06	-0.775	0.10988	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.076286	0.53938	D	0.000055	T	0.29620	0.0739	M	0.77616	2.38	0.25514	N	0.987438	D	0.71674	0.998	D	0.69479	0.964	T	0.14227	-1.0480	10	0.25751	T	0.34	-14.2994	3.4469	0.07483	0.338:0.0:0.3857:0.2764	.	221	Q6IB77	GLYAT_HUMAN	V	221	ENSP00000340200:L221V;ENSP00000431688:L221V	ENSP00000340200:L221V	L	-	1	2	GLYAT	58234045	0.062000	0.20869	0.008000	0.14137	0.029000	0.11900	0.253000	0.18296	-0.096000	0.12329	0.650000	0.86243	CTA		0.552	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			21	53	0	0	0	0.014323	0	21	53				
GLYAT	10249	broad.mit.edu	37	11	58491902	58491902	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:58491902G>T	ENST00000344743.3	-	2	209	c.68C>A	c.(67-69)cCa>cAa	p.P23Q	GLYAT_ENST00000278400.3_Missense_Mutation_p.P23Q|GLYAT_ENST00000529732.1_Missense_Mutation_p.P23Q	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	23					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.P23Q(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAAGGATGCTGGGAGGCTCTT	0.443																																							uc001nnb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(67-69)CCA>CAA		glycine-N-acyltransferase isoform a	Glycine(DB00145)						104.0	101.0	102.0					11																	58491902		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58491902G>T	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.68C>A	11.37:g.58491902G>T	ENSP00000340200:p.Pro23Gln					GLYAT_uc001nnc.2_Missense_Mutation_p.P23Q	p.P23Q	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			2	223	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	23					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.68C>A	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942218	0.34283	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.35048	1.33;1.33;1.33	4.65	4.65	0.58169	Glycine N-acyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.93016	3.37	0.23416	N	0.997729	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63773	-0.6561	10	0.87932	D	0	-28.0335	13.3355	0.60515	0.0:0.0:1.0:0.0	.	23;23	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	Q	23	ENSP00000340200:P23Q;ENSP00000431688:P23Q;ENSP00000278400:P23Q	ENSP00000278400:P23Q	P	-	2	0	GLYAT	58248478	0.972000	0.33761	0.268000	0.24571	0.018000	0.09664	4.072000	0.57563	2.854000	0.98071	0.655000	0.94253	CCA		0.443	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			8	36	1	0	5.18039e-06	0.00308	5.81293e-06	8	36				
ZP1	22917	broad.mit.edu	37	11	60636693	60636693	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60636693C>T	ENST00000278853.5	+	2	272	c.272C>T	c.(271-273)cCt>cTt	p.P91L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	91					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.P91L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCGCAGGAGCCTGCAGTCTTC	0.577																																							uc001nqd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(271-273)CCT>CTT		zona pellucida glycoprotein 1 precursor							56.0	53.0	54.0					11																	60636693		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60636693C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.272C>T	11.37:g.60636693C>T	ENSP00000278853:p.Pro91Leu					ZP1_uc001nqe.2_5'Flank	p.P91L	NM_207341	NP_997224	P60852	ZP1_HUMAN			2	292	+			91			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000278853.5	37	c.272C>T	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506651	0.44558	.	.	ENSG00000149506	ENST00000278853	T	0.24151	1.87	4.08	3.15	0.36227	.	0.403564	0.22640	N	0.057470	T	0.25195	0.0612	L	0.47716	1.5	0.09310	N	1	D	0.54207	0.965	B	0.44224	0.444	T	0.07849	-1.0751	10	0.35671	T	0.21	-4.575	12.9705	0.58510	0.1625:0.8375:0.0:0.0	.	91	P60852	ZP1_HUMAN	L	91	ENSP00000278853:P91L	ENSP00000278853:P91L	P	+	2	0	ZP1	60393269	0.000000	0.05858	0.005000	0.12908	0.328000	0.28507	0.108000	0.15396	0.891000	0.36235	0.460000	0.39030	CCT		0.577	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		16	30	0	0	0	0.006122	0	16	30				
TMEM132A	54972	broad.mit.edu	37	11	60699590	60699590	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60699590G>T	ENST00000453848.2	+	7	1505	c.1347G>T	c.(1345-1347)caG>caT	p.Q449H	TMEM132A_ENST00000005286.4_Missense_Mutation_p.Q450H			Q24JP5	T132A_HUMAN	transmembrane protein 132A	449						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q450H(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAACACACAGGTCCTGCAGG	0.622																																							uc001nqj.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(1345-1347)CAG>CAT		transmembrane protein 132A isoform b							68.0	62.0	64.0					11																	60699590		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699590G>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1347G>T	11.37:g.60699590G>T	ENSP00000405823:p.Gln449His					TMEM132A_uc001nqi.2_Missense_Mutation_p.Q450H|TMEM132A_uc001nqk.2_Missense_Mutation_p.Q462H|TMEM132A_uc001nql.1_3'UTR|TMEM132A_uc001nqm.2_5'Flank	p.Q449H	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			7	1540	+			449			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1347G>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246456	0.59103	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.13901	2.55;2.55	4.74	3.58	0.41010	.	0.170924	0.38897	N	0.001535	T	0.24122	0.0584	L	0.40543	1.245	0.38188	D	0.939821	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.78314	0.955;0.991;0.984	T	0.02047	-1.1223	10	0.87932	D	0	.	8.3286	0.32173	0.1527:0.0:0.8473:0.0	.	200;449;450	Q24JP5-4;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	H	200;449;450	ENSP00000405823:Q449H;ENSP00000005286:Q450H	ENSP00000005286:Q450H	Q	+	3	2	TMEM132A	60456166	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	0.296000	0.19083	2.364000	0.80123	0.561000	0.74099	CAG		0.622	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		30	54	1	0	7.01153e-11	0.007291	8.67924e-11	30	54				
CD5	921	broad.mit.edu	37	11	60889133	60889133	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:60889133G>A	ENST00000347785.3	+	6	1022	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	286	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.E286K(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGCATCTGTGAAGGCACCGT	0.647																																							uc009ynk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(856-858)GAA>AAA		CD5 molecule precursor							45.0	41.0	43.0					11																	60889133		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60889133G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.856G>A	11.37:g.60889133G>A	ENSP00000342681:p.Glu286Lys						p.E286K	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	6	959	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	286			Extracellular (Potential).|SRCR 3.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.856G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411674	0.62399	.	.	ENSG00000110448	ENST00000347785	T	0.38887	1.11	5.61	1.56	0.23342	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.564641	0.16742	N	0.201413	T	0.41396	0.1157	M	0.76170	2.325	0.09310	N	1	P	0.46621	0.881	P	0.44897	0.463	T	0.21245	-1.0251	10	0.28530	T	0.3	-4.9226	6.1472	0.20293	0.2161:0.1407:0.6432:0.0	.	286	P06127	CD5_HUMAN	K	286	ENSP00000342681:E286K	ENSP00000342681:E286K	E	+	1	0	CD5	60645709	0.003000	0.15002	0.042000	0.18584	0.979000	0.70002	0.304000	0.19228	0.702000	0.31825	0.561000	0.74099	GAA		0.647	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		36	61	0	0	0	0.004289	0	36	61				
DAK	26007	broad.mit.edu	37	11	61106638	61106638	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:61106638G>A	ENST00000394900.3	+	4	523	c.294G>A	c.(292-294)caG>caA	p.Q98Q		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	98	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.Q98Q(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CCGTGGCCCAGGCCGGCACAG	0.672																																							uc001nre.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(292-294)CAG>CAA		dihydroxyacetone kinase 2							31.0	32.0	32.0					11																	61106638		2203	4298	6501	SO:0001819	synonymous_variant	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61106638G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.294G>A	11.37:g.61106638G>A						DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Silent_p.Q28Q	p.Q98Q	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN			4	551	+			98			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	c.294G>A	CCDS8003.1																																																																																				0.672	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		36	53	0	0	0	0.004289	0	36	53				
DAGLA	747	broad.mit.edu	37	11	61493493	61493493	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:61493493C>G	ENST00000257215.5	+	6	691	c.575C>G	c.(574-576)aCc>aGc	p.T192S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	192					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T192S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCAAGCCACCAGCTGGTCG	0.607																																							uc001nsa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(574-576)ACC>AGC		neural stem cell-derived dendrite regulator							95.0	86.0	89.0					11																	61493493		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61493493C>G	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.575C>G	11.37:g.61493493C>G	ENSP00000257215:p.Thr192Ser						p.T192S	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	6	686	+			192			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.575C>G	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	4.948	0.176206	0.09443	.	.	ENSG00000134780	ENST00000257215	T	0.20200	2.09	4.33	4.33	0.51752	.	0.047924	0.85682	D	0.000000	T	0.06005	0.0156	N	0.00960	-1.095	0.33501	D	0.589974	B	0.02656	0.0	B	0.04013	0.001	T	0.18241	-1.0343	10	0.02654	T	1	-46.0801	12.3551	0.55171	0.0:0.6753:0.3247:0.0	.	192	Q9Y4D2	DGLA_HUMAN	S	192	ENSP00000257215:T192S	ENSP00000257215:T192S	T	+	2	0	DAGLA	61250069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.238000	0.65366	2.151000	0.67156	0.462000	0.41574	ACC		0.607	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		6	159	0	0	0	0.00308	0	6	159				
AHNAK	79026	broad.mit.edu	37	11	62294197	62294197	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62294197C>A	ENST00000378024.4	-	5	7966	c.7692G>T	c.(7690-7692)ggG>ggT	p.G2564G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2564					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.G2564G(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAACTTAGGCCCTTTCAACT	0.483																																							uc001ntl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7690-7692)GGG>GGT		AHNAK nucleoprotein isoform 1							174.0	175.0	175.0					11																	62294197		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62294197C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7692G>T	11.37:g.62294197C>A						AHNAK_uc001ntk.1_Intron	p.G2564G	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7992	-		Melanoma(852;0.155)	2564					A1A586	Silent	SNP	ENST00000378024.4	37	c.7692G>T	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		53	99	1	0	4.25531e-23	0.01441	5.81253e-23	53	99				
INTS5	80789	broad.mit.edu	37	11	62416029	62416029	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62416029A>G	ENST00000330574.2	-	2	1575	c.1523T>C	c.(1522-1524)gTc>gCc	p.V508A	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	508					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.V508A(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCGGGTATAGACAGACAGCAG	0.577																																							uc001nud.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1522-1524)GTC>GCC		integrator complex subunit 5							85.0	84.0	84.0					11																	62416029		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416029A>G	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1523T>C	11.37:g.62416029A>G	ENSP00000327889:p.Val508Ala					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.V508A	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1576	-			508					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1523T>C	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902081	0.33628	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.11	3.97	0.46021	.	0.132633	0.50627	D	0.000105	T	0.24851	0.0603	N	0.19112	0.55	0.31807	N	0.627698	P	0.35656	0.514	B	0.32211	0.142	T	0.23655	-1.0182	9	0.33940	T	0.23	.	9.4969	0.38993	0.8419:0.0:0.0:0.1581	.	508	Q6P9B9	INT5_HUMAN	A	508	.	ENSP00000327889:V508A	V	-	2	0	INTS5	62172605	1.000000	0.71417	0.996000	0.52242	0.515000	0.34225	8.598000	0.90852	0.932000	0.37266	0.533000	0.62120	GTC		0.577	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		28	150	0	0	0	0.007291	0	28	150				
ZBTB3	79842	broad.mit.edu	37	11	62519745	62519745	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62519745G>A	ENST00000394807.3	-	2	1667	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D514D(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GGCGGTAGAGGTCCCCTGACT	0.602																																							uc001nuz.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)	3						c.(1540-1542)GAC>GAT		zinc finger and BTB domain containing 3							90.0	85.0	87.0					11																	62519745		2202	4299	6501	SO:0001819	synonymous_variant	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519745G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1542C>T	11.37:g.62519745G>A							p.D514D	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	1664	-			514			C2H2-type 2.			Silent	SNP	ENST00000394807.3	37	c.1542C>T	CCDS8034.1																																																																																				0.602	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		34	58	0	0	0	0.003271	0	34	58				
SLC3A2	6520	broad.mit.edu	37	11	62655685	62655685	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62655685G>C	ENST00000377890.2	+	11	1693	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	SLC3A2_ENST00000536981.1_Missense_Mutation_p.V54L|SLC3A2_ENST00000377889.2_Missense_Mutation_p.V447L|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377892.1_Missense_Mutation_p.V540L|SLC3A2_ENST00000338663.7_Missense_Mutation_p.V408L|SLC3A2_ENST00000535296.1_Missense_Mutation_p.V478L|SLC3A2_ENST00000377891.2_Missense_Mutation_p.V510L	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	509					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.V540L(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAACATGACTGTGAAGGTAAG	0.537																																							uc001nwd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1525-1527)GTG>CTG		solute carrier family 3, member 2 isoform c							83.0	81.0	82.0					11																	62655685		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62655685G>C		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1525G>C	11.37:g.62655685G>C	ENSP00000367122:p.Val509Leu					SLC3A2_uc001nwb.2_Missense_Mutation_p.V540L|SLC3A2_uc001nwc.2_Missense_Mutation_p.V510L|SLC3A2_uc001nwe.2_Missense_Mutation_p.V478L|SLC3A2_uc001nwf.2_Missense_Mutation_p.V447L|SLC3A2_uc001nwg.2_Missense_Mutation_p.V408L	p.V509L	NM_002394	NP_002385	P08195	4F2_HUMAN			11	1749	+			509			Extracellular (Potential).		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1525G>C	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	9.793	1.178323	0.21787	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606;ENST00000539891;ENST00000536981	D;D;D;D;D;D;D;D	0.99552	-5.57;-5.63;-5.65;-5.6;-5.6;-5.66;-6.15;-6.15	4.78	4.78	0.61160	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.335739	0.26016	N	0.026859	D	0.98972	0.9650	M	0.91249	3.19	0.35781	D	0.821618	P;B;B;B;B	0.44281	0.831;0.309;0.24;0.079;0.353	B;B;B;B;B	0.32677	0.15;0.087;0.06;0.032;0.087	D	0.99974	1.2112	10	0.54805	T	0.06	-21.8695	13.3925	0.60832	0.0:0.0:1.0:0.0	.	447;478;509;408;540	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	L	540;510;509;510;447;478;408;390;54;54	ENSP00000367124:V540L;ENSP00000367123:V510L;ENSP00000367122:V509L;ENSP00000367121:V447L;ENSP00000444236:V478L;ENSP00000340815:V408L;ENSP00000438353:V54L;ENSP00000444439:V54L	ENSP00000340815:V408L	V	+	1	0	SLC3A2	62412261	0.990000	0.36364	0.972000	0.41901	0.006000	0.05464	2.395000	0.44459	2.233000	0.73108	0.551000	0.68910	GTG		0.537	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		35	63	0	0	0	0.012213	0	35	63				
SLC22A6	9356	broad.mit.edu	37	11	62751918	62751918	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:62751918G>T	ENST00000377871.3	-	1	511	c.245C>A	c.(244-246)aCc>aAc	p.T82N	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T82N|SLC22A6_ENST00000458333.2_Missense_Mutation_p.T82N|SLC22A6_ENST00000421062.2_Missense_Mutation_p.T82N	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	82					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.T82N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTGCGGGGAGGTGAAGCGGAG	0.662																																							uc001nwk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(244-246)ACC>AAC		solute carrier family 22 member 6 isoform a							64.0	65.0	65.0					11																	62751918		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62751918G>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.245C>A	11.37:g.62751918G>T	ENSP00000367102:p.Thr82Asn					SLC22A6_uc001nwl.2_Missense_Mutation_p.T82N|SLC22A6_uc001nwj.2_Missense_Mutation_p.T82N|SLC22A6_uc001nwm.2_Missense_Mutation_p.T82N	p.T82N	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			1	552	-			82			Extracellular (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.245C>A	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017082	0.35606	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.71	3.75	0.43078	.	0.567927	0.17769	N	0.162660	T	0.42698	0.1214	L	0.45137	1.4	0.25144	N	0.990479	P;P;B;P	0.44877	0.812;0.708;0.402;0.845	B;B;B;P	0.45449	0.381;0.381;0.211;0.481	T	0.21109	-1.0255	10	0.17369	T	0.5	.	12.7577	0.57345	0.0:0.1654:0.8346:0.0	.	82;82;82;82	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	N	82;61;82;82;82	ENSP00000353597:T82N;ENSP00000367102:T82N;ENSP00000396401:T82N;ENSP00000404441:T82N	ENSP00000353597:T82N	T	-	2	0	SLC22A6	62508494	0.115000	0.22152	0.850000	0.33497	0.802000	0.45316	0.943000	0.29030	2.464000	0.83262	0.557000	0.71058	ACC		0.662	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		28	95	1	0	7.41945e-09	0.005443	8.93287e-09	28	95				
HRASLS5	117245	broad.mit.edu	37	11	63235916	63235916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:63235916C>A	ENST00000301790.4	-	4	556	c.397G>T	c.(397-399)Gga>Tga	p.G133*	HRASLS5_ENST00000540857.1_Nonsense_Mutation_p.G123*|HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.G133*			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	133							transferase activity, transferring acyl groups (GO:0016746)	p.G133*(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATCAGGTCTCCAGGTCTGGGT	0.443																																							uc001nwy.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(397-399)GGA>TGA		HRAS-like suppressor family, member 5 isoform 1							112.0	110.0	111.0					11																	63235916		2201	4298	6499	SO:0001587	stop_gained	117245							g.chr11:63235916C>A	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.397G>T	11.37:g.63235916C>A	ENSP00000301790:p.Gly133*					HRASLS5_uc001nwz.2_Nonsense_Mutation_p.G123*|HRASLS5_uc010rmq.1_Nonsense_Mutation_p.G133*|HRASLS5_uc009yos.2_Intron	p.G133*	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN			4	571	-			133					B7X6T1|F5GZ87|F5H4Y9	Nonsense_Mutation	SNP	ENST00000301790.4	37	c.397G>T	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737694	0.96865	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	.	.	.	4.37	4.37	0.52481	.	0.251271	0.39083	N	0.001466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.2779	12.7263	0.57173	0.0:1.0:0.0:0.0	.	.	.	.	X	123;133;133	.	ENSP00000301790:G133X	G	-	1	0	HRASLS5	62992492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.944000	0.70219	2.715000	0.92844	0.561000	0.74099	GGA		0.443	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		21	47	1	0	1.87028e-06	0.012319	2.13327e-06	21	47				
TRPT1	83707	broad.mit.edu	37	11	63991664	63991664	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:63991664C>G	ENST00000317459.6	-	7	746	c.578G>C	c.(577-579)cGc>cCc	p.R193P	TRPT1_ENST00000541278.1_Intron|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000394546.2_Missense_Mutation_p.R195P|TRPT1_ENST00000394547.3_Missense_Mutation_p.R144P|NUDT22_ENST00000441250.2_5'Flank|TRPT1_ENST00000546089.1_Intron|TRPT1_ENST00000546133.1_Intron|TRPT1_ENST00000540472.1_5'Flank			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	193					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)	p.R193P(1)		lung(2)|skin(1)	3						ATTGGCAGAGCGGAAGAAGGG	0.567																																							uc001nyo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(577-579)CGC>CCC		tRNA phosphotransferase 1 isoform 1							84.0	82.0	83.0					11																	63991664		2201	4297	6498	SO:0001583	missense	83707						tRNA 2'-phosphotransferase activity	g.chr11:63991664C>G		CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"""tRNA splicing 2' phosphotransferase 1"""	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.578G>C	11.37:g.63991664C>G	ENSP00000314073:p.Arg193Pro					TRPT1_uc010rnc.1_Missense_Mutation_p.R194P|TRPT1_uc010rnd.1_Missense_Mutation_p.R195P|TRPT1_uc001nyn.2_Missense_Mutation_p.R144P|TRPT1_uc010rne.1_Intron|TRPT1_uc010rnf.1_Missense_Mutation_p.R193P|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank	p.R193P	NM_001033678	NP_001028850	Q86TN4	TRPT1_HUMAN			7	792	-			193					A8MU17|A8MYC9|F5H2B2|Q9BSB9	Missense_Mutation	SNP	ENST00000317459.6	37	c.578G>C	CCDS31595.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493505	0.64186	.	.	ENSG00000149743	ENST00000394547;ENST00000394546;ENST00000317459	T;T;T	0.47177	0.85;0.85;0.85	5.1	3.09	0.35607	.	0.324362	0.36002	N	0.002859	T	0.56934	0.2019	M	0.61703	1.905	0.80722	D	1	D;D;P	0.56287	0.975;0.968;0.875	P;P;P	0.60789	0.748;0.689;0.879	T	0.54536	-0.8279	10	0.35671	T	0.21	-1.7224	8.8332	0.35096	0.1489:0.77:0.0:0.0811	.	195;144;193	A8MU17;Q86TN4-2;Q86TN4	.;.;TRPT1_HUMAN	P	144;195;193	ENSP00000378051:R144P;ENSP00000378050:R195P;ENSP00000314073:R193P	ENSP00000314073:R193P	R	-	2	0	TRPT1	63748240	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.630000	0.54273	1.312000	0.45043	-0.266000	0.10368	CGC		0.567	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396579.1	NM_031472		16	75	0	0	0	0.004007	0	16	75				
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120						membrane (GO:0016020)		p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677																																							uc001nzy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(3358-3360)CAC>CAT		coiled-coil domain containing 88							27.0	31.0	30.0					11																	64120219		2201	4286	6487	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120219C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3360C>T	11.37:g.64120219C>T						CCDC88B_uc009ypo.1_Silent_p.H1117H|CCDC88B_uc001oaa.2_Silent_p.H272H|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank	p.H1120H	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			20	3404	+			1120			Potential.		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.3360C>T	CCDS8072.2																																																																																				0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		6	47	0	0	0	0.001168	0	6	47				
NRXN2	9379	broad.mit.edu	37	11	64374937	64374937	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64374937C>A	ENST00000377551.1	-	22	5081	c.4870G>T	c.(4870-4872)Ggc>Tgc	p.G1624C	NRXN2_ENST00000409571.1_Missense_Mutation_p.G1617C|NRXN2_ENST00000301894.2_Missense_Mutation_p.G578C|NRXN2_ENST00000265459.6_Missense_Mutation_p.G1624C|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1554C			Q9P2S2	NRX2A_HUMAN	neurexin 2	1624					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.G1624C(1)|p.G578C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCACTGCGCCCGGCGGGCCC	0.736																																							uc001oap.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1732-1734)GGC>TGC		neurexin 2 isoform beta precursor							18.0	18.0	18.0					11																	64374937		2200	4295	6495	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64374937C>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4870G>T	11.37:g.64374937C>A	ENSP00000366774:p.Gly1624Cys					NRXN2_uc001oar.2_Missense_Mutation_p.G1624C|NRXN2_uc001oas.2_Missense_Mutation_p.G1554C|NRXN2_uc001oao.2_Missense_Mutation_p.G264C|NRXN2_uc001oaq.2_Missense_Mutation_p.G1291C	p.G578C	NM_138734	NP_620063	P58401	NRX2B_HUMAN			8	2243	-			578			Extracellular (Potential).		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1732G>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971099	0.53614	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.75367	-0.16;-0.82;-0.93;-0.82;-0.71	4.31	3.38	0.38709	.	0.000000	0.43579	U	0.000555	T	0.82102	0.4964	M	0.72118	2.19	0.51012	D	0.999903	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.971;0.998;1.0	T	0.82600	-0.0377	10	0.87932	D	0	.	7.1329	0.25512	0.0:0.8765:0.0:0.1235	.	1554;1624;1370;578	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	C	578;1624;1554;1624;1554;1617	ENSP00000301894:G578C;ENSP00000366774:G1624C;ENSP00000366782:G1554C;ENSP00000265459:G1624C;ENSP00000386416:G1617C	ENSP00000265459:G1624C	G	-	1	0	NRXN2	64131513	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.278000	0.65592	1.954000	0.56735	0.313000	0.20887	GGC		0.736	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		11	22	1	0	1.08611e-07	0.010729	1.27695e-07	11	22				
PYGM	5837	broad.mit.edu	37	11	64518939	64518939	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64518939C>A	ENST00000164139.3	-	16	2226		c.e16-1		PYGM_ENST00000377432.3_Splice_Site|PYGM_ENST00000462303.1_Splice_Site	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.?(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGTGCAGCCTGAGGGGACA	0.602																																							uc001oax.3		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e16-1		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						90.0	96.0	94.0					11																	64518939		2201	4297	6498	SO:0001630	splice_region_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64518939C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1828-1G>T	11.37:g.64518939C>A						PYGM_uc001oay.3_Splice_Site_p.A522_splice	p.A610_splice	NM_005609	NP_005600	P11217	PYGM_HUMAN			16	2645	-								A0AVK1|A6NDY6	Splice_Site	SNP	ENST00000164139.3	37	c.1828_splice	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341799	0.61073	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	.	.	.	5.25	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0976	0.59202	0.1613:0.8387:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PYGM	64275515	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	7.616000	0.83018	1.442000	0.47568	0.561000	0.74099	.		0.602	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609	Intron	44	97	1	0	5.48756e-27	0.011902	7.57409e-27	44	97				
NAALADL1	10004	broad.mit.edu	37	11	64815843	64815843	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:64815843G>A	ENST00000358658.3	-	9	1240	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	NAALADL1_ENST00000340252.4_Missense_Mutation_p.R456C|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R370C|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R364C|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R405C|NAALADL1_ENST00000528884.1_5'UTR|RN7SL114P_ENST00000582042.1_RNA	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	405	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R405C(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ATTGATCTGCGAGGACGCCAG	0.597																																							uc001ocn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1213-1215)CGC>TGC		N-acetylated alpha-linked acidic							74.0	73.0	73.0					11																	64815843		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64815843G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1213C>T	11.37:g.64815843G>A	ENSP00000351484:p.Arg405Cys					NAALADL1_uc010rnw.1_5'UTR|NAALADL1_uc009ypz.2_RNA	p.R405C	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			9	1229	-			405			NAALADase.|Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.1213C>T	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873869	0.72180	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	4.56	3.63	0.41609	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78663	-0.2116	10	0.87932	D	0	-20.9137	11.6188	0.51104	0.0:0.0:0.8207:0.1793	.	405	Q9UQQ1	NALDL_HUMAN	C	405;405;405;405;456;364;370	ENSP00000351484:R405C;ENSP00000347530:R405C;ENSP00000340111:R405C;ENSP00000344244:R456C;ENSP00000347955:R364C;ENSP00000349045:R370C	ENSP00000340111:R405C	R	-	1	0	NAALADL1	64572419	1.000000	0.71417	0.997000	0.53966	0.741000	0.42261	3.933000	0.56545	1.129000	0.42072	0.549000	0.68633	CGC		0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		16	52	0	0	0	0.004007	0	16	52				
SIPA1	6494	broad.mit.edu	37	11	65417286	65417286	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65417286G>T	ENST00000394224.3	+	12	2992	c.2696G>T	c.(2695-2697)aGg>aTg	p.R899M	SIPA1_ENST00000534313.1_Missense_Mutation_p.R899M|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.R797M|SIPA1_ENST00000527525.1_Missense_Mutation_p.R797M	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	899					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)	p.R899M(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCGGAGCTGAGGGCCTCCTTT	0.627																																							uc001ofb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2695-2697)AGG>ATG		signal-induced proliferation-associated protein							63.0	65.0	64.0					11																	65417286		2201	4297	6498	SO:0001583	missense	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.chr11:65417286G>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.2696G>T	11.37:g.65417286G>T	ENSP00000377771:p.Arg899Met					SIPA1_uc010rom.1_Missense_Mutation_p.R797M|SIPA1_uc001ofd.2_Missense_Mutation_p.R899M	p.R899M	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN			12	2863	+			899					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2696G>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915422	0.52546	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.83163	-1.68;-1.69;-1.68;-1.69	4.34	4.34	0.51931	.	1.739510	0.04205	U	0.330731	T	0.78272	0.4257	N	0.24115	0.695	0.26965	N	0.965721	P;P	0.42620	0.785;0.454	B;B	0.41088	0.347;0.188	T	0.69518	-0.5124	10	0.62326	D	0.03	-11.8892	12.3598	0.55197	0.0:0.0:1.0:0.0	.	797;899	F6RY50;Q96FS4	.;SIPA1_HUMAN	M	899;797;899;797	ENSP00000436269:R899M;ENSP00000433686:R797M;ENSP00000377771:R899M;ENSP00000377774:R797M	ENSP00000377771:R899M	R	+	2	0	SIPA1	65173862	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	2.829000	0.48128	1.969000	0.57287	0.313000	0.20887	AGG		0.627	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		30	54	1	0	5.77227e-19	0.008361	7.76769e-19	30	54				
CATSPER1	117144	broad.mit.edu	37	11	65793536	65793536	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65793536G>C	ENST00000312106.5	-	1	452	c.315C>G	c.(313-315)gtC>gtG	p.V105V		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	105	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.V105V(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGGGAGGGGACGGCGCCTT	0.607																																							uc001ogt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(313-315)GTC>GTG		sperm-associated cation channel 1							128.0	116.0	120.0					11																	65793536		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793536G>C	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.315C>G	11.37:g.65793536G>C							p.V105V	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	453	-			105			His-rich.|Cytoplasmic (Potential).		Q96P76	Silent	SNP	ENST00000312106.5	37	c.315C>G	CCDS8127.1																																																																																				0.607	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		44	112	0	0	0	0.01441	0	44	112				
SF3B2	10992	broad.mit.edu	37	11	65827291	65827291	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:65827291G>C	ENST00000322535.6	+	13	1489	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	SF3B2_ENST00000528302.1_Silent_p.V463V	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	480					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TGCACGATGTGACAGCGCAGG	0.557																																							uc001ogy.1		NA																	0				ovary(2)|breast(1)	3						c.(1438-1440)GTG>GTC		splicing factor 3B subunit 2							102.0	83.0	89.0					11																	65827291		2201	4295	6496	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65827291G>C	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1440G>C	11.37:g.65827291G>C							p.V480V	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			13	1480	+			480					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.1440G>C	CCDS31612.1																																																																																				0.557	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			3	109	0	0	0	0.004672	0	3	109				
RIN1	9610	broad.mit.edu	37	11	66102012	66102012	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:66102012C>T	ENST00000311320.4	-	6	1384	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	RIN1_ENST00000530056.1_Missense_Mutation_p.E315K|RIN1_ENST00000424433.2_Missense_Mutation_p.E315K|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'Flank	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	420	Ras and 14-3-3 protein binding region.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E420K(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGCAGCTTCTCAGGGCCCAGC	0.701																																							uc001ohn.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(1258-1260)GAG>AAG		ras inhibitor RIN1							19.0	20.0	20.0					11																	66102012		2199	4294	6493	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102012C>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1258G>A	11.37:g.66102012C>T	ENSP00000310406:p.Glu420Lys					RIN1_uc010roy.1_Missense_Mutation_p.E113K|RIN1_uc009yrd.1_Missense_Mutation_p.E113K|RIN1_uc010roz.1_Missense_Mutation_p.E315K|RIN1_uc010rpa.1_Missense_Mutation_p.E315K	p.E420K	NM_004292	NP_004283	Q13671	RIN1_HUMAN			6	1385	-			420			Ras and 14-3-3 protein binding region.		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.1258G>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249173	0.59103	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.32023	1.47;1.47;2.53	4.26	4.26	0.50523	.	0.568270	0.17003	N	0.190844	T	0.50565	0.1623	M	0.68317	2.08	0.31857	N	0.621452	D;D;D	0.69078	0.997;0.997;0.991	D;D;D	0.74348	0.983;0.98;0.913	T	0.54853	-0.8231	10	0.32370	T	0.25	-19.1735	12.5372	0.56147	0.0:1.0:0.0:0.0	.	315;113;420	E9PNR2;B4DW96;Q13671	.;.;RIN1_HUMAN	K	420;315;315	ENSP00000310406:E420K;ENSP00000400560:E315K;ENSP00000432798:E315K	ENSP00000310406:E420K	E	-	1	0	RIN1	65858588	0.993000	0.37304	0.998000	0.56505	0.847000	0.48162	3.353000	0.52247	2.099000	0.63709	0.462000	0.41574	GAG		0.701	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		5	6	0	0	0	0.000602	0	5	6				
CCDC87	55231	broad.mit.edu	37	11	66357977	66357977	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:66357977T>A	ENST00000333861.3	-	1	2577	c.2510A>T	c.(2509-2511)cAc>cTc	p.H837L	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	837					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.H837L(2)		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						GGTTGACTGGTGGGGATCCTT	0.577																																							uc001oiq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2509-2511)CAC>CTC		coiled-coil domain containing 87							126.0	135.0	132.0					11																	66357977		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66357977T>A	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.2510A>T	11.37:g.66357977T>A	ENSP00000328487:p.His837Leu					CCS_uc001oir.2_5'Flank	p.H837L	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	2578	-			837					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2510A>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728572	0.30593	.	.	ENSG00000182791	ENST00000333861	T	0.27890	1.64	5.18	-3.45	0.04781	.	0.814245	0.10384	N	0.681149	T	0.21509	0.0518	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28902	-1.0029	10	0.51188	T	0.08	.	6.6014	0.22703	0.1619:0.5462:0.0:0.2919	.	837	Q9NVE4	CCD87_HUMAN	L	837	ENSP00000328487:H837L	ENSP00000328487:H837L	H	-	2	0	CCDC87	66114553	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.226000	0.09139	-0.450000	0.07107	0.402000	0.26972	CAC		0.577	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		104	205	0	0	0	0.01441	0	104	205				
CLCF1	23529	broad.mit.edu	37	11	67132763	67132763	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:67132763G>T	ENST00000312438.7	-	3	719	c.522C>A	c.(520-522)gcC>gcA	p.A174A	AP003419.11_ENST00000543494.1_RNA|RN7SKP239_ENST00000364814.1_RNA|CLCF1_ENST00000533438.1_Silent_p.A164A|CLCF1_ENST00000528474.1_Silent_p.A164A	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	174					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AGTCACTGTGGGCAGGGCCAG	0.637																																							uc001okq.2		NA																	0					0						c.(520-522)GCC>GCA		cardiotrophin-like cytokine factor 1 precursor							38.0	36.0	36.0					11																	67132763		2200	4295	6495	SO:0001819	synonymous_variant	23529				B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr11:67132763G>T	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.522C>A	11.37:g.67132763G>T						LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Silent_p.A164A	p.A174A	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.39e-06)		3	718	-			174					B4DNT4|Q6NZA4	Silent	SNP	ENST00000312438.7	37	c.522C>A	CCDS31617.1																																																																																				0.637	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246		10	56	1	0	3.07112e-06	0.010729	3.46216e-06	10	56				
NDUFS8	4728	broad.mit.edu	37	11	67800450	67800450	+	Missense_Mutation	SNP	G	G	T	rs370053943		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:67800450G>T	ENST00000313468.5	+	4	277	c.170G>T	c.(169-171)cGc>cTc	p.R57L	MIR4691_ENST00000583764.1_RNA|RP5-901A4.1_ENST00000532296.1_RNA|NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	57					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R57L(2)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8						CGGGCAGCCCGCACCCTGCTG	0.652																																					Colon(116;1205 2770 20054)	Colon(116;1205 2770 20054)	uc001onc.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(169-171)CGC>CTC		NADH dehydrogenase ubiquinone Fe-S 8 precursor	NADH(DB00157)						89.0	82.0	84.0					11																	67800450		2200	4294	6494	SO:0001583	missense	4728				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67800450G>T	U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.170G>T	11.37:g.67800450G>T	ENSP00000315774:p.Arg57Leu					NDUFS8_uc010rpz.1_Missense_Mutation_p.R57L|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R57L	p.R57L	NM_002496	NP_002487	O00217	NDUS8_HUMAN			4	277	+			57					B2RB86|Q0VDA8	Missense_Mutation	SNP	ENST00000313468.5	37	c.170G>T	CCDS8176.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347897	0.24426	.	.	ENSG00000110717	ENST00000313468;ENST00000453471;ENST00000526339;ENST00000525419;ENST00000525628	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	5.19	3.06	0.35304	.	0.332477	0.32548	N	0.005959	D	0.87474	0.6186	L	0.33245	0.995	0.80722	D	1	P;B;B	0.39060	0.657;0.005;0.023	B;B;B	0.38225	0.268;0.01;0.031	D	0.83620	0.0139	10	0.87932	D	0	.	6.3588	0.21417	0.8156:0.0:0.1844:0.0	.	57;57;57	B4DYI3;E9PPW7;O00217	.;.;NDUS8_HUMAN	L	57;57;57;39;57	ENSP00000315774:R57L;ENSP00000403972:R57L;ENSP00000436287:R57L;ENSP00000433521:R39L;ENSP00000432968:R57L	ENSP00000315774:R57L	R	+	2	0	NDUFS8	67557026	1.000000	0.71417	0.270000	0.24601	0.048000	0.14542	2.294000	0.43567	0.445000	0.26639	-0.137000	0.14449	CGC		0.652	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		44	62	1	0	1.61863e-15	0.01441	2.12308e-15	44	62				
CCND1	595	broad.mit.edu	37	11	69456155	69456155	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:69456155A>C	ENST00000227507.2	+	1	301	c.74A>C	c.(73-75)gAc>gCc	p.D25A	CCND1_ENST00000536559.1_Missense_Mutation_p.D25A	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	25					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D25A(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CTCCTCAACGACCGGGTGCTG	0.647			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	Pancreas(65;393 884 2788 21700 24360 27795 36895)	uc001opa.2		NA		Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	IGH@|FSTL3		CLL|B-ALL|breast		2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(73-75)GAC>GCC		cyclin D1	Arsenic trioxide(DB01169)						93.0	86.0	88.0					11																	69456155		2200	4294	6494	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69456155A>C	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.74A>C	11.37:g.69456155A>C	ENSP00000227507:p.Asp25Ala	Multiple Myeloma(6;0.086)					p.D25A	NM_053056	NP_444284	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		1	283	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		25					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.74A>C	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133332	0.77662	.	.	ENSG00000110092	ENST00000227507;ENST00000542897;ENST00000539241;ENST00000536559;ENST00000535993	T;T	0.18810	2.19;2.19	4.08	4.08	0.47627	Cyclin-like (1);	0.062950	0.64402	D	0.000008	T	0.28732	0.0712	M	0.83774	2.66	0.50632	D	0.999888	B	0.27013	0.166	B	0.31547	0.132	T	0.18304	-1.0341	10	0.87932	D	0	.	8.1873	0.31346	0.9076:0.0:0.0924:0.0	.	25	P24385	CCND1_HUMAN	A	25	ENSP00000227507:D25A;ENSP00000438482:D25A	ENSP00000227507:D25A	D	+	2	0	CCND1	69165336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.268000	0.89876	1.608000	0.50180	0.459000	0.35465	GAC		0.647	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		33	120	0	0	0	0.012213	0	33	120				
FOLR3	2352	broad.mit.edu	37	11	71850011	71850011	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:71850011G>C	ENST00000445078.2	+	3	366	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	FOLR3_ENST00000456237.1_Missense_Mutation_p.V101L|FOLR3_ENST00000442948.2_Missense_Mutation_p.S58T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	79					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)	p.V101L(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACCCAGTGCAGTCCCTGGAAG	0.572																																							uc001ory.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GTC>CTC		SubName: Full=FOLR3 protein; Flags: Fragment;	Folic Acid(DB00158)						34.0	37.0	36.0					11																	71850011		2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850011G>C	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.295G>C	11.37:g.71850011G>C	ENSP00000390338:p.Val99Leu					FOLR3_uc001orx.1_Missense_Mutation_p.S58T	p.V101L			P41439	FOLR3_HUMAN			3	351	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.301G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	7.969|7.969	0.748638|0.748638	0.15710|0.15710	.|.	.|.	ENSG00000110203|ENSG00000110203	ENST00000442948;ENST00000546166|ENST00000445078;ENST00000456237	T;T|T;T	0.76060|0.72505	-0.99;-0.99|-0.66;-0.66	3.21|3.21	1.16|1.16	0.20824|0.20824	Folate receptor-like (1);|.	0.647879|.	0.13355|.	U|.	0.394116|.	T|T	0.48277|0.48277	0.1491|0.1491	.|.	.|.	.|.	0.20403|0.20403	N|N	0.999902|0.999902	B|B	0.12013|0.06786	0.005|0.001	B|B	0.21360|0.04013	0.034|0.001	T|T	0.17471|0.17471	-1.0368|-1.0368	9|8	0.10902|0.07482	T|T	0.67|0.82	.|.	12.734|12.734	0.57212|0.57212	0.0:0.6544:0.3456:0.0|0.0:0.6544:0.3456:0.0	.|.	56|101	P41439|E9PGT2	FOLR3_HUMAN|.	T|L	58;56|99;101	ENSP00000411161:S58T;ENSP00000446279:S56T|ENSP00000390338:V99L;ENSP00000399235:V101L	ENSP00000325032:S56T|ENSP00000390338:V99L	S|V	+|+	2|1	0|0	FOLR3|FOLR3	71527659|71527659	0.004000|0.004000	0.15560|0.15560	0.995000|0.995000	0.50966|0.50966	0.852000|0.852000	0.48524|0.48524	-0.048000|-0.048000	0.11944|0.11944	0.151000|0.151000	0.19162|0.19162	0.591000|0.591000	0.81541|0.81541	AGT|GTC		0.572	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		4	29	0	0	0	0.009096	0	4	29				
INPPL1	3636	broad.mit.edu	37	11	71940249	71940249	+	Missense_Mutation	SNP	G	G	T	rs17847214		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:71940249G>T	ENST00000298229.2	+	5	838	c.634G>T	c.(634-636)Gct>Tct	p.A212S	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	212					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.A212S(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCGTACCCTCGCTACCTCATG	0.622																																							uc001osf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(634-636)GCT>TCT		inositol polyphosphate phosphatase-like 1							54.0	47.0	49.0					11																	71940249		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71940249G>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.634G>T	11.37:g.71940249G>T	ENSP00000298229:p.Ala212Ser					INPPL1_uc001osg.2_5'UTR	p.A212S	NM_001567	NP_001558	O15357	SHIP2_HUMAN			5	781	+			212					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.634G>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	3.046	-0.196466	0.06259	.	.	ENSG00000165458	ENST00000298229	D	0.91521	-2.86	5.32	4.41	0.53225	.	0.356564	0.24422	N	0.038664	T	0.78616	0.4311	N	0.11560	0.145	0.26776	N	0.969702	B	0.10296	0.003	B	0.06405	0.002	T	0.60944	-0.7162	10	0.09843	T	0.71	.	11.0578	0.47929	0.0874:0.0:0.9126:0.0	.	212	O15357	SHIP2_HUMAN	S	212	ENSP00000298229:A212S	ENSP00000298229:A212S	A	+	1	0	INPPL1	71617897	1.000000	0.71417	0.114000	0.21550	0.648000	0.38561	4.730000	0.62015	1.240000	0.43803	-0.140000	0.14226	GCT		0.622	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		5	36	1	0	3.59834e-05	0.001168	3.94026e-05	5	36				
WNT11	7481	broad.mit.edu	37	11	75902715	75902715	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:75902715C>A	ENST00000322563.3	-	4	907	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	261					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)	p.K261N(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						TATCCAGGTCCTTGGGCACCA	0.597																																							uc001oxe.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(781-783)AAG>AAT		wingless-type MMTV integration site family,							90.0	93.0	92.0					11																	75902715		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75902715C>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.783G>T	11.37:g.75902715C>A	ENSP00000325526:p.Lys261Asn					WNT11_uc001oxf.1_Missense_Mutation_p.K261N	p.K261N	NM_004626	NP_004617	O96014	WNT11_HUMAN			4	906	-			261					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.783G>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978106	0.53720	.	.	ENSG00000085741	ENST00000322563	T	0.76186	-1.0	5.66	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	L	0.42744	1.35	0.80722	D	1	P	0.48589	0.912	P	0.47603	0.551	T	0.72404	-0.4304	10	0.62326	D	0.03	.	14.1777	0.65552	0.0:0.864:0.0:0.136	.	261	O96014	WNT11_HUMAN	N	261	ENSP00000325526:K261N	ENSP00000325526:K261N	K	-	3	2	WNT11	75580363	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.471000	0.35365	0.352000	0.24053	-0.797000	0.03246	AAG		0.597	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		33	138	1	0	4.4194e-11	0.013726	5.5176e-11	33	138				
LRRC32	2615	broad.mit.edu	37	11	76372111	76372111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:76372111C>A	ENST00000407242.2	-	3	768	c.526G>T	c.(526-528)Gag>Tag	p.E176*	LRRC32_ENST00000404995.1_Nonsense_Mutation_p.E176*|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.E176*|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	176					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.E176*(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCAAGCTGCTCCAGCGCAGGC	0.637																																							uc001oxq.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(526-528)GAG>TAG		leucine rich repeat containing 32 precursor							93.0	86.0	89.0					11																	76372111		2200	4292	6492	SO:0001587	stop_gained	2615					integral to plasma membrane		g.chr11:76372111C>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.526G>T	11.37:g.76372111C>A	ENSP00000384126:p.Glu176*					LRRC32_uc001oxr.3_Nonsense_Mutation_p.E176*|LRRC32_uc010rsf.1_Nonsense_Mutation_p.E176*	p.E176*	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	769	-			176			Extracellular (Potential).|LRR 6.		Q86V06	Nonsense_Mutation	SNP	ENST00000407242.2	37	c.526G>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890622	0.52014	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	.	.	.	4.43	3.49	0.39957	.	0.321345	0.32357	N	0.006218	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	10.5083	0.44847	0.0:0.8448:0.0:0.1552	.	.	.	.	X	176	.	ENSP00000260061:E176X	E	-	1	0	LRRC32	76049759	0.000000	0.05858	0.671000	0.29857	0.472000	0.32918	1.092000	0.30927	2.306000	0.77630	0.462000	0.41574	GAG		0.637	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		15	65	1	0	1.00905e-13	0.008871	1.30003e-13	15	65				
TENM4	26011	broad.mit.edu	37	11	78412823	78412823	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:78412823T>C	ENST00000278550.7	-	28	5297	c.4835A>G	c.(4834-4836)tAc>tGc	p.Y1612C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1612					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.Y1612C(4)									GTCCCCAGTGTAGGTGAAGTT	0.537																																							uc001ozl.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(2)	4						c.(4834-4836)TAC>TGC		odz, odd Oz/ten-m homolog 4							149.0	148.0	148.0					11																	78412823		2047	4181	6228	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78412823T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4835A>G	11.37:g.78412823T>C	ENSP00000278550:p.Tyr1612Cys					ODZ4_uc009yvb.1_Missense_Mutation_p.Y196C	p.Y1612C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	5298	-			1612			Extracellular (Potential).|YD 2.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.4835A>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.794032	0.70452	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.97710	-4.5;0.96	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	M	0.87547	2.89	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.99616	1.0982	9	.	.	.	.	15.3369	0.74263	0.0:0.0:0.0:1.0	.	1612	Q6N022	TEN4_HUMAN	C	1612;76	ENSP00000278550:Y1612C;ENSP00000431711:Y76C	.	Y	-	2	0	ODZ4	78090471	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.805000	0.86005	2.204000	0.70986	0.528000	0.53228	TAC		0.537	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			30	115	0	0	0	0.008361	0	30	115				
DDIAS	220042	broad.mit.edu	37	11	82643578	82643578	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:82643578G>C	ENST00000533655.1	+	6	1410	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	C11orf82_ENST00000430323.2_Missense_Mutation_p.E400Q|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.E99Q|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		400					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)		p.E400Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAGACTTGAAGAGACAGCCAG	0.463																																							uc001ozt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1198-1200)GAG>CAG		nitric oxide-inducible gene protein							165.0	169.0	168.0					11																	82643578		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643578G>C																												ENST00000533655.1:c.1198G>C	11.37:g.82643578G>C	ENSP00000435421:p.Glu400Gln					C11orf82_uc010rsr.1_Missense_Mutation_p.E99Q|C11orf82_uc010rss.1_Missense_Mutation_p.E99Q|C11orf82_uc009yvd.2_Intron	p.E400Q	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	1442	+			400					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1198G>C	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012293	0.19277	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.47177	0.85;0.85;0.85	6.04	3.04	0.35103	.	0.528674	0.19611	N	0.110134	T	0.39655	0.1086	M	0.64997	1.995	0.09310	N	1	B	0.31227	0.314	B	0.31686	0.134	T	0.28364	-1.0046	9	.	.	.	.	4.5147	0.11928	0.2611:0.1635:0.5754:0.0	.	400	Q8IXT1	NOXIN_HUMAN	Q	400;400;99	ENSP00000414687:E400Q;ENSP00000435421:E400Q;ENSP00000329930:E99Q	.	E	+	1	0	C11orf82	82321226	0.228000	0.23718	0.035000	0.18076	0.004000	0.04260	2.481000	0.45215	0.896000	0.36366	-0.251000	0.11542	GAG		0.463	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			28	126	0	0	0	0.00632	0	28	126				
NOX4	50507	broad.mit.edu	37	11	89184980	89184980	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:89184980G>A	ENST00000263317.4	-	3	475	c.237C>T	c.(235-237)ctC>ctT	p.L79L	NOX4_ENST00000424319.1_Silent_p.L55L|NOX4_ENST00000343727.5_Silent_p.L55L|NOX4_ENST00000525196.1_Silent_p.L79L|NOX4_ENST00000535633.1_Silent_p.L55L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000532825.1_Silent_p.L55L|NOX4_ENST00000413594.2_Silent_p.L100L|NOX4_ENST00000542487.1_Silent_p.L55L|NOX4_ENST00000527956.1_Silent_p.L55L|NOX4_ENST00000528341.1_Silent_p.L54L|NOX4_ENST00000534731.1_Silent_p.L79L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	79	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.L79L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGTAAGCCAAGAGTGTTCGGC	0.413																																							uc001pct.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(235-237)CTC>CTT		NADPH oxidase 4 isoform a							159.0	147.0	151.0					11																	89184980		2201	4299	6500	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89184980G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.237C>T	11.37:g.89184980G>A						NOX4_uc009yvr.2_Silent_p.L54L|NOX4_uc001pcu.2_Silent_p.L5L|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.L79L|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Silent_p.L79L|NOX4_uc010rtv.1_Silent_p.L55L|NOX4_uc009yvq.2_Silent_p.L55L|NOX4_uc009yvs.1_RNA	p.L79L	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			3	476	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	79			Ferric oxidoreductase.|Helical; (Potential).		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.237C>T	CCDS8285.1																																																																																				0.413	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		6	44	0	0	0	0.001984	0	6	44				
FAT3	120114	broad.mit.edu	37	11	92532943	92532943	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92532943A>G	ENST00000298047.6	+	9	6781	c.6764A>G	c.(6763-6765)aAg>aGg	p.K2255R	FAT3_ENST00000525166.1_Missense_Mutation_p.K2105R|FAT3_ENST00000409404.2_Missense_Mutation_p.K2255R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2255	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K2255R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGCTTACAAGCTGACAATA	0.428										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6763-6765)AAG>AGG		FAT tumor suppressor homolog 3							72.0	66.0	68.0					11																	92532943		1912	4122	6034	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532943A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6764A>G	11.37:g.92532943A>G	ENSP00000298047:p.Lys2255Arg	TCGA Ovarian(4;0.039)					p.K2255R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6781	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2255			Cadherin 20.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6764A>G		.	.	.	.	.	.	.	.	.	.	A	6.088	0.384564	0.11524	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51817	0.69;0.69;0.69	5.94	4.81	0.61882	.	.	.	.	.	T	0.28366	0.0701	N	0.12853	0.265	0.80722	D	1	B	0.15930	0.015	B	0.14023	0.01	T	0.05920	-1.0856	9	0.15952	T	0.53	.	12.0926	0.53736	0.9331:0.0:0.0669:0.0	.	2255	Q8TDW7-3	.	R	2255;2255;2105	ENSP00000298047:K2255R;ENSP00000387040:K2255R;ENSP00000432586:K2105R	ENSP00000298047:K2255R	K	+	2	0	FAT3	92172591	1.000000	0.71417	0.999000	0.59377	0.706000	0.40770	3.228000	0.51270	1.067000	0.40740	0.528000	0.53228	AAG		0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	19	0	0	0	0.000602	0	5	19				
MTNR1B	4544	broad.mit.edu	37	11	92714702	92714702	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92714702G>C	ENST00000257068.2	+	2	319	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	105					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.G105R(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CTTCTATGACGGCTGGGCCCT	0.572																																							uc001pdk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(313-315)GGC>CGC		melatonin receptor 1B	Ramelteon(DB00980)						167.0	165.0	166.0					11																	92714702		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714702G>C	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.313G>C	11.37:g.92714702G>C	ENSP00000257068:p.Gly105Arg						p.G105R	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	416	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	105			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.313G>C	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005892	0.54254	.	.	ENSG00000134640	ENST00000257068	T	0.70631	-0.5	3.97	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76350	0.3975	M	0.62266	1.93	0.53005	D	0.999968	P	0.51351	0.944	P	0.57324	0.818	T	0.74203	-0.3741	10	0.32370	T	0.25	-28.9624	12.1281	0.53928	0.0841:0.0:0.9159:0.0	.	105	P49286	MTR1B_HUMAN	R	105	ENSP00000257068:G105R	ENSP00000257068:G105R	G	+	1	0	MTNR1B	92354350	1.000000	0.71417	0.732000	0.30844	0.388000	0.30384	5.716000	0.68437	1.038000	0.40049	-0.320000	0.08662	GGC		0.572	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			72	176	0	0	0	0.01441	0	72	176				
MTNR1B	4544	broad.mit.edu	37	11	92715222	92715222	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:92715222C>A	ENST00000257068.2	+	2	839	c.833C>A	c.(832-834)cCc>cAc	p.P278H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	278					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.P278H(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCCATCAACCCCCAAGAAATG	0.512																																							uc001pdk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(832-834)CCC>CAC		melatonin receptor 1B	Ramelteon(DB00980)						159.0	152.0	154.0					11																	92715222		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715222C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.833C>A	11.37:g.92715222C>A	ENSP00000257068:p.Pro278His						p.P278H	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	936	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	278			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.833C>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670317	0.29693	.	.	ENSG00000134640	ENST00000257068	T	0.43688	0.94	4.0	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.90198	3.095	0.48762	D	0.999703	D	0.89917	1.0	D	0.97110	1.0	T	0.71441	-0.4592	10	0.31617	T	0.26	-7.0119	13.6854	0.62513	0.0:0.8439:0.1561:0.0	.	278	P49286	MTR1B_HUMAN	H	278	ENSP00000257068:P278H	ENSP00000257068:P278H	P	+	2	0	MTNR1B	92354870	0.995000	0.38212	0.139000	0.22197	0.048000	0.14542	3.363000	0.52321	0.985000	0.38656	0.491000	0.48974	CCC		0.512	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			62	157	1	0	9.10829e-22	0.01441	1.23948e-21	62	157				
TRPC6	7225	broad.mit.edu	37	11	101375108	101375108	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:101375108G>T	ENST00000344327.3	-	2	1016	c.592C>A	c.(592-594)Cag>Aag	p.Q198K	TRPC6_ENST00000348423.4_Missense_Mutation_p.Q198K|TRPC6_ENST00000532133.1_Missense_Mutation_p.Q198K|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q198K|TRPC6_ENST00000526713.1_5'Flank	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	198					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.Q198K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTTCAGACTGGCTAGGGCTG	0.468																																					Colon(166;1315 1927 11094 12848 34731)	Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(592-594)CAG>AAG		transient receptor potential cation channel,							103.0	96.0	99.0					11																	101375108		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375108G>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.592C>A	11.37:g.101375108G>T	ENSP00000340913:p.Gln198Lys					TRPC6_uc009ywy.2_Missense_Mutation_p.Q198K|TRPC6_uc009ywz.1_Missense_Mutation_p.Q198K	p.Q198K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	1017	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	198			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.592C>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573920	0.45902	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.78816	-1.02;-1.12;-0.97;-1.21	5.84	5.84	0.93424	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.83723	0.5316	L	0.36672	1.1	0.58432	D	0.999997	D;P;D	0.76494	0.999;0.619;0.995	D;B;D	0.83275	0.996;0.406;0.977	T	0.80044	-0.1547	10	0.28530	T	0.3	-21.2473	20.1438	0.98071	0.0:0.0:1.0:0.0	.	198;198;198	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	K	198	ENSP00000340913:Q198K;ENSP00000435574:Q198K;ENSP00000343672:Q198K;ENSP00000353687:Q198K	ENSP00000340913:Q198K	Q	-	1	0	TRPC6	100880318	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.539000	0.73856	2.768000	0.95171	0.650000	0.86243	CAG		0.468	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		7	41	1	0	8.12818e-05	0.001984	8.78788e-05	7	41				
DYNC2H1	79659	broad.mit.edu	37	11	103106399	103106399	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:103106399A>T	ENST00000375735.2	+	62	9711		c.e62-1		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTTTTTTCCAGGTTGTAGAG	0.373																																							uc001pho.2		NA																	2	Unknown(2)		lung(2)		0						c.e62-2		dynein, cytoplasmic 2, heavy chain 1							44.0	42.0	43.0					11																	103106399		1821	4076	5897	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103106399A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9568-1A>T	11.37:g.103106399A>T						DYNC2H1_uc001phn.1_Splice_Site_p.V3190_splice|DYNC2H1_uc009yxe.1_Intron	p.V3190_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	62	9712	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)						O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	c.9568_splice	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796442	0.70567	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.726	0.77761	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC2H1	102611609	1.000000	0.71417	0.921000	0.36526	0.676000	0.39594	8.598000	0.90852	2.104000	0.64026	0.524000	0.50904	.		0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Intron	4	5	0	0	0	0.009096	0	4	5				
DDI1	414301	broad.mit.edu	37	11	103908684	103908684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:103908684G>T	ENST00000302259.3	+	1	1377	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	378							aspartic-type endopeptidase activity (GO:0004190)	p.E378D(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCAAGATGAGTCTTCGGACA	0.458																																							uc001phr.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(1132-1134)GAG>GAT		DDI1, DNA-damage inducible 1, homolog 1							62.0	62.0	62.0					11																	103908684		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908684G>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1134G>T	11.37:g.103908684G>T	ENSP00000302805:p.Glu378Asp					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.E378D	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1377	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	378					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.1134G>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	4.758	0.141014	0.09083	.	.	ENSG00000170967	ENST00000302259	T	0.23950	1.88	4.44	1.45	0.22620	.	0.433192	0.24172	N	0.040898	T	0.12561	0.0305	L	0.28192	0.835	0.24723	N	0.993138	B	0.02656	0.0	B	0.06405	0.002	T	0.22661	-1.0210	10	0.16896	T	0.51	-1.0708	3.2556	0.06831	0.0953:0.1718:0.5553:0.1776	.	378	Q8WTU0	DDI1_HUMAN	D	378	ENSP00000302805:E378D	ENSP00000302805:E378D	E	+	3	2	DDI1	103413894	0.004000	0.15560	0.044000	0.18714	0.006000	0.05464	-0.044000	0.12023	0.350000	0.24002	0.655000	0.94253	GAG		0.458	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		5	31	1	0	1.23904e-05	0.000602	1.37125e-05	5	31				
CUL5	8065	broad.mit.edu	37	11	107965125	107965125	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:107965125G>A	ENST00000393094.2	+	14	2067	c.1451G>A	c.(1450-1452)gGt>gAt	p.G484D		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	484					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.G484D(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TAGGAAGTTGGTATGCCAGCG	0.289																																							uc001pjv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1450-1452)GGT>GAT		Vasopressin-activated calcium-mobilizing							46.0	49.0	48.0					11																	107965125		2201	4288	6489	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107965125G>A	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1451G>A	11.37:g.107965125G>A	ENSP00000376808:p.Gly484Asp					CUL5_uc001pju.2_RNA	p.G484D	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	14	2118	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	484					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1451G>A	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139887	0.94560	.	.	ENSG00000166266	ENST00000393094	D	0.86627	-2.15	5.67	5.67	0.87782	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.90425	3.115	0.80722	D	1	P	0.44521	0.837	P	0.53809	0.735	D	0.94129	0.7386	10	0.72032	D	0.01	-12.8037	20.1313	0.98000	0.0:0.0:1.0:0.0	.	484	Q93034	CUL5_HUMAN	D	484	ENSP00000376808:G484D	ENSP00000376808:G484D	G	+	2	0	CUL5	107470335	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.386000	0.97228	2.837000	0.97791	0.655000	0.94253	GGT		0.289	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			4	30	0	0	0	0.000602	0	4	30				
NCAM1	4684	broad.mit.edu	37	11	113103046	113103046	+	Missense_Mutation	SNP	C	C	G	rs368123885		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113103046C>G	ENST00000533760.1	+	10	1610	c.1011C>G	c.(1009-1011)atC>atG	p.I337M	NCAM1_ENST00000316851.7_Missense_Mutation_p.I455M|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.I464M	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	465	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.I464M(2)|p.I455M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATATCAAGATCTACAACACCC	0.527																																							uc009yyq.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1117-1119)ATC>ATG		neural cell adhesion molecule 1 isoform 3							79.0	77.0	78.0					11																	113103046		2010	4181	6191	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113103046C>G		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1011C>G	11.37:g.113103046C>G	ENSP00000473281:p.Ile337Met						p.I373M	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	12	1813	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	465			Ig-like C2-type 5.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1119C>G		.	.	.	.	.	.	.	.	.	.	C	18.28	3.589362	0.66105	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.74209	-0.82;-0.82	5.73	3.77	0.43336	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127710	0.49305	U	0.000143	D	0.83339	0.5233	.	.	.	0.80722	D	1	D;D;D;D	0.63880	0.993;0.992;0.989;0.987	D;D;D;D	0.69479	0.953;0.917;0.95;0.964	D	0.84234	0.0468	9	0.62326	D	0.03	-11.8636	9.3509	0.38138	0.2423:0.6894:0.0:0.0683	.	465;455;465;455	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	M	337;464;455	ENSP00000384055:I464M;ENSP00000318472:I455M	ENSP00000318472:I455M	I	+	3	3	NCAM1	112608256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.082000	0.50128	1.569000	0.49696	0.557000	0.71058	ATC		0.527	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		6	52	0	0	0	0.001984	0	6	52				
DRD2	1813	broad.mit.edu	37	11	113286152	113286152	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113286152A>T	ENST00000362072.3	-	5	1058	c.714T>A	c.(712-714)gcT>gcA	p.A238A	DRD2_ENST00000538967.1_Silent_p.A238A|DRD2_ENST00000544518.1_Silent_p.A237A|DRD2_ENST00000355319.2_Silent_p.A238A|DRD2_ENST00000346454.3_Silent_p.A238A|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.A238A	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	238	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.A238A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCTTTAGTGGAGCCCTCAGGT	0.572																																							uc001pnz.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(712-714)GCT>GCA		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						122.0	119.0	120.0					11																	113286152		2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113286152A>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.714T>A	11.37:g.113286152A>T						DRD2_uc010rwv.1_Silent_p.A237A|DRD2_uc001poa.3_Silent_p.A238A|DRD2_uc001pob.3_Silent_p.A238A|DRD2_uc009yyr.1_Silent_p.A238A	p.A238A	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	4	1035	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	238			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.714T>A	CCDS8361.1																																																																																				0.572	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		27	117	0	0	0	0.00632	0	27	117				
NXPE4	54827	broad.mit.edu	37	11	114453161	114453161	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:114453161C>T	ENST00000375478.3	-	3	859	c.679G>A	c.(679-681)Gct>Act	p.A227T	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	227						extracellular vesicular exosome (GO:0070062)		p.A227T(1)									CACAATTCAGCATTTGTGTTT	0.488																																							uc001ppc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(679-681)GCT>ACT		hypothetical protein LOC54827 isoform 1							118.0	119.0	119.0					11																	114453161		2141	4274	6415	SO:0001583	missense	54827					extracellular region		g.chr11:114453161C>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.679G>A	11.37:g.114453161C>T	ENSP00000364627:p.Ala227Thr					FAM55D_uc001ppd.2_Intron	p.A227T	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	860	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	227					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.679G>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	2.009	-0.427493	0.04701	.	.	ENSG00000137634	ENST00000375478	T	0.11712	2.75	5.16	-0.17	0.13335	.	0.825609	0.10781	N	0.634839	T	0.06781	0.0173	L	0.33189	0.99	0.09310	N	1	B	0.20459	0.045	B	0.27887	0.084	T	0.46076	-0.9217	10	0.17369	T	0.5	.	1.4488	0.02370	0.136:0.4027:0.1326:0.3286	.	227	Q6UWF7	FA55D_HUMAN	T	227	ENSP00000364627:A227T	ENSP00000364627:A227T	A	-	1	0	FAM55D	113958371	0.000000	0.05858	0.004000	0.12327	0.114000	0.19823	-0.327000	0.07955	-0.220000	0.09988	0.591000	0.81541	GCT		0.488	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		4	45	0	0	0	0.000602	0	4	45				
APOA5	116519	broad.mit.edu	37	11	116661394	116661394	+	Missense_Mutation	SNP	G	G	T	rs201229911	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:116661394G>T	ENST00000227665.4	-	3	585	c.551C>A	c.(550-552)aCc>aAc	p.T184N	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.T184N			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	184					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.T184N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GAAGCGGCCGGTGTGGTGCAC	0.682																																							uc001ppr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(550-552)ACC>AAC		apolipoprotein AV precursor							29.0	32.0	31.0					11																	116661394		2201	4296	6497	SO:0001583	missense	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661394G>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.551C>A	11.37:g.116661394G>T	ENSP00000227665:p.Thr184Asn					ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.T184N|APOA5_uc009yzf.2_Missense_Mutation_p.T184N|APOA5_uc009yzg.2_Missense_Mutation_p.T210N	p.T184N	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	559	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	184					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.551C>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234998	0.39498	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.74526	-0.85;-0.85	4.98	4.98	0.66077	Apolipoprotein/apolipophorin (1);	0.000000	0.64402	D	0.000016	D	0.82838	0.5124	M	0.80982	2.52	0.39252	D	0.964059	D;D	0.63046	0.992;0.977	D;P	0.65443	0.935;0.9	T	0.80674	-0.1277	10	0.17369	T	0.5	-18.2362	10.7312	0.46098	0.088:0.0:0.912:0.0	.	181;184	B0YIW1;Q6Q788	.;APOA5_HUMAN	N	184	ENSP00000227665:T184N;ENSP00000445002:T184N	ENSP00000227665:T184N	T	-	2	0	APOA5	116166604	0.964000	0.33143	0.926000	0.36857	0.015000	0.08874	2.691000	0.47010	2.582000	0.87167	0.650000	0.86243	ACC		0.682	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			11	39	1	0	1.33987e-11	0.008291	1.68295e-11	11	39				
APOA4	337	broad.mit.edu	37	11	116691596	116691596	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:116691596G>A	ENST00000357780.3	-	3	1292	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	393					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)	p.P393L(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTCTCCAAAGGGGCCAGCAT	0.617																																							uc001pps.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)CCT>CTT		apolipoprotein A-IV precursor							50.0	47.0	48.0					11																	116691596		2201	4296	6497	SO:0001583	missense	337							g.chr11:116691596G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.1178C>T	11.37:g.116691596G>A	ENSP00000350425:p.Pro393Leu						p.P393L	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	1282	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.1178C>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397947	0.42512	.	.	ENSG00000110244	ENST00000357780	T	0.79454	-1.27	4.75	3.75	0.43078	.	0.162280	0.29668	N	0.011518	T	0.79323	0.4426	M	0.72479	2.2	0.20638	N	0.999875	P	0.48640	0.913	P	0.48982	0.597	T	0.73126	-0.4081	10	0.87932	D	0	-2.3009	9.4937	0.38976	0.0:0.0:0.7895:0.2105	.	393	P06727	APOA4_HUMAN	L	393	ENSP00000350425:P393L	ENSP00000350425:P393L	P	-	2	0	APOA4	116196806	0.041000	0.20044	0.364000	0.25888	0.105000	0.19272	2.561000	0.45905	2.573000	0.86826	0.557000	0.71058	CCT		0.617	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		10	47	0	0	0	0.006214	0	10	47				
DSCAML1	57453	broad.mit.edu	37	11	117395754	117395754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:117395754G>T	ENST00000321322.6	-	5	884	c.883C>A	c.(883-885)Cag>Aag	p.Q295K	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	235	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACACTTCCTGGGAGTGGAAG	0.697																																							uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(883-885)CAG>AAG		Down syndrome cell adhesion molecule like 1							14.0	12.0	13.0					11																	117395754		2183	4281	6464	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117395754G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.883C>A	11.37:g.117395754G>T	ENSP00000315465:p.Gln295Lys					DSCAML1_uc001pri.1_Missense_Mutation_p.Q99K	p.Q295K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	5	885	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	235			Ig-like C2-type 3.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.883C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	8.117	0.780126	0.16120	.	.	ENSG00000177103	ENST00000321322	T	0.66815	-0.23	4.94	2.89	0.33648	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60741	0.2292	L	0.49571	1.57	0.29561	N	0.850604	B	0.06786	0.001	B	0.10450	0.005	T	0.55598	-0.8116	8	.	.	.	.	14.9259	0.70878	0.0:0.0:0.7304:0.2696	.	235	Q8TD84	DSCL1_HUMAN	K	295	ENSP00000315465:Q295K	.	Q	-	1	0	DSCAML1	116900964	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	1.452000	0.35156	1.299000	0.44798	0.555000	0.69702	CAG		0.697	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	15	1	0	0.000602214	0.000602	0.000636401	5	15				
TREH	11181	broad.mit.edu	37	11	118532435	118532435	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:118532435G>C	ENST00000529101.1	-	6	573	c.528C>G	c.(526-528)gaC>gaG	p.D176E	TREH_ENST00000264029.4_Missense_Mutation_p.D176E|TREH_ENST00000530256.1_Missense_Mutation_p.D53E|TREH_ENST00000525958.1_Intron|TREH_ENST00000397925.1_Intron			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	176	Substrate binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|organ morphogenesis (GO:0009887)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|trehalose catabolic process (GO:0005993)|trehalose metabolic process (GO:0005991)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	alpha,alpha-trehalase activity (GO:0004555)	p.D53E(2)|p.D176E(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		CCCAGTAGGAGTCCCTGGGGA	0.632																																							uc001pty.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(526-528)GAC>GAG		trehalase precursor							64.0	66.0	66.0					11																	118532435		2081	4204	6285	SO:0001583	missense	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118532435G>C	AB000824	CCDS73401.1, CCDS73402.1	11q23.3	2008-07-21				ENSG00000118094	3.2.1.28		12266	protein-coding gene	gene with protein product	"""alpha,alpha-trehalase"", ""alpha,alpha-trehalose glucohydrolase"""	275360				9427547	Standard	NM_007180		Approved	TRE, TREA, MGC129621	uc001pty.1	O43280		ENST00000529101.1:c.528C>G	11.37:g.118532435G>C	ENSP00000435095:p.Asp176Glu					TREH_uc009zaj.1_Intron|TREH_uc001ptz.1_Missense_Mutation_p.D53E|TREH_uc009zak.2_Missense_Mutation_p.D176E	p.D176E	NM_007180	NP_009111	O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	6	573	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	176					Q32MB9|Q53FY8	Missense_Mutation	SNP	ENST00000529101.1	37	c.528C>G		.	.	.	.	.	.	.	.	.	.	G	25.0	4.592979	0.86953	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700	D;D;D	0.89415	-2.51;-2.51;-2.51	5.54	4.62	0.57501	Six-hairpin glycosidase-like (1);Glycoside hydrolase, family 37, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93559	0.7944	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.994	D	0.93523	0.6863	9	0.62326	D	0.03	-37.3417	12.0827	0.53680	0.0832:0.0:0.9168:0.0	.	53;176	E9PPK1;O43280	.;TREA_HUMAN	E	176;53;176;53	ENSP00000435095:D176E;ENSP00000432640:D53E;ENSP00000264029:D176E	ENSP00000264029:D176E	D	-	3	2	TREH	118037645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.466000	0.53071	2.589000	0.87451	0.655000	0.94253	GAC		0.632	TREH-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000389639.1	NM_007180		19	39	0	0	0	0.008871	0	19	39				
CBL	867	broad.mit.edu	37	11	119170450	119170450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:119170450G>T	ENST00000264033.4	+	16	3056	c.2680G>T	c.(2680-2682)Gaa>Taa	p.E894*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	894	Interaction with CD2AP.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E894*(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CATCCTCCGGGAATTTGTTTC	0.488			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																														uc001pwe.2		NA		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					2	Substitution - Nonsense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(2680-2682)GAA>TAA		Cas-Br-M (murine) ecotropic retroviral							283.0	290.0	287.0					11																	119170450		2199	4295	6494	SO:0001587	stop_gained	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119170450G>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2680G>T	11.37:g.119170450G>T	ENSP00000264033:p.Glu894*						p.E894*	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	16	2818	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	894			Interaction with CD2AP.|UBA.		A3KMP8	Nonsense_Mutation	SNP	ENST00000264033.4	37	c.2680G>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	43	10.068526	0.99330	.	.	ENSG00000110395	ENST00000264033	.	.	.	5.8	5.8	0.92144	.	0.048060	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4389	20.0545	0.97645	0.0:0.0:1.0:0.0	.	.	.	.	X	894	.	ENSP00000264033:E894X	E	+	1	0	CBL	118675660	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	9.337000	0.96545	2.748000	0.94277	0.655000	0.94253	GAA		0.488	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		126	202	1	0	9.77321e-77	0.01441	1.38042e-76	126	202				
MFRP	83552	broad.mit.edu	37	11	119215663	119215663	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:119215663G>T	ENST00000530681.1	-	6	837	c.693C>A	c.(691-693)ctC>ctA	p.L231L	MFRP_ENST00000360167.4_Silent_p.L231L|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000555262.1_Silent_p.L231L|MFRP_ENST00000449574.2_Silent_p.L231L	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	231	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGACCACCAGGAGGTGGCTGG	0.617																																							uc001pwj.2		NA																	0					0						c.(691-693)CTC>CTA		membrane frizzled-related protein							34.0	26.0	29.0					11																	119215663		2197	4291	6488	SO:0001819	synonymous_variant	83552					collagen		g.chr11:119215663G>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.693C>A	11.37:g.119215663G>T						MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.L231L	p.L231L	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	6	853	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	ENST00000530681.1	37	c.693C>A	CCDS8421.1																																																																																				0.617	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		5	14	1	0	1.23904e-05	0.000602	1.37125e-05	5	14				
TBCEL	219899	broad.mit.edu	37	11	120916426	120916426	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:120916426C>T	ENST00000529397.1	+	2	127	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TBCEL_ENST00000422003.2_Silent_p.F9F	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	9						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F9F(2)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GAAGAAGTTTCATGCAAGTAT	0.383																																							uc009zay.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(25-27)TTC>TTT		tubulin folding cofactor E-like							54.0	61.0	59.0					11																	120916426		2203	4298	6501	SO:0001819	synonymous_variant	219899					cytoplasm|cytoskeleton		g.chr11:120916426C>T	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.27C>T	11.37:g.120916426C>T						TBCEL_uc001pxo.2_Silent_p.F9F|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA	p.F9F	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	2	105	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	9					Q0VAN6	Silent	SNP	ENST00000529397.1	37	c.27C>T	CCDS31692.1																																																																																				0.383	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		12	15	0	0	0	0.001855	0	12	15				
ZNF202	7753	broad.mit.edu	37	11	123601254	123601254	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:123601254C>T	ENST00000529691.1	-	2	562	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ZNF202_ENST00000336139.4_Missense_Mutation_p.E115K|ZNF202_ENST00000530393.1_Missense_Mutation_p.E115K			O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)	p.E115K(2)		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)		ACTGCCTCCTCGCCACTTTCT	0.582																																							uc001pzd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(343-345)GAG>AAG		zinc finger protein 202							105.0	100.0	101.0					11																	123601254		2202	4299	6501	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.chr11:123601254C>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.343G>A	11.37:g.123601254C>T	ENSP00000433881:p.Glu115Lys					ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.E115K|ZNF202_uc001pzf.1_Missense_Mutation_p.E115K	p.E115K	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	4	743	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	115			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.343G>A	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115212	0.77210	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	4.57	4.57	0.56435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.48286	D	0.000187	T	0.08670	0.0215	M	0.63208	1.945	0.37293	D	0.908334	P	0.46706	0.883	B	0.41088	0.347	T	0.04090	-1.0978	10	0.87932	D	0	-20.8577	8.4709	0.32984	0.0:0.897:0.0:0.103	.	115	O95125	ZN202_HUMAN	K	115	ENSP00000337724:E115K;ENSP00000432504:E115K;ENSP00000433881:E115K;ENSP00000431223:E115K	ENSP00000337724:E115K	E	-	1	0	ZNF202	123106464	0.192000	0.23301	0.998000	0.56505	0.809000	0.45718	1.584000	0.36589	2.369000	0.80426	0.455000	0.32223	GAG		0.582	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		42	94	0	0	0	0.009718	0	42	94				
OR8B4	283162	broad.mit.edu	37	11	124294222	124294222	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:124294222G>T	ENST00000356130.3	-	1	567	c.546C>A	c.(544-546)ccC>ccA	p.P182P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		GCTGCAAGAGGGGGAGAACGT	0.507																																							uc010sak.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(544-546)CCC>CCA		olfactory receptor, family 8, subfamily B,							87.0	60.0	69.0					11																	124294222		2201	4299	6500	SO:0001819	synonymous_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294222G>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.546C>A	11.37:g.124294222G>T							p.P182P	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	546	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	182			Extracellular (Potential).		B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	c.546C>A	CCDS31710.1																																																																																				0.507	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		8	28	1	0	0.000157383	0.00308	0.0001694	8	28				
APLP2	334	broad.mit.edu	37	11	129996686	129996686	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:129996686G>A	ENST00000263574.5	+	8	1254	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	APLP2_ENST00000543137.1_Silent_p.K301K|APLP2_ENST00000338167.5_Silent_p.K394K|APLP2_ENST00000539648.1_Silent_p.K182K|APLP2_ENST00000278756.7_Silent_p.K404K|APLP2_ENST00000345598.5_Silent_p.K165K|APLP2_ENST00000528499.1_Silent_p.K338K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	394					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.K394K(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGAAGGCTAAGGAGCAGCTGG	0.468																																							uc010sby.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1180-1182)AAG>AAA		amyloid beta (A4) precursor-like protein 2							172.0	153.0	159.0					11																	129996686		2201	4297	6498	SO:0001819	synonymous_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129996686G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1182G>A	11.37:g.129996686G>A						APLP2_uc001qfp.2_Silent_p.K394K|APLP2_uc001qfq.2_Silent_p.K338K|APLP2_uc010sbz.1_Silent_p.K182K|APLP2_uc001qfr.2_Silent_p.K160K|APLP2_uc001qfs.2_Silent_p.K165K|APLP2_uc001qfv.2_Silent_p.K285K	p.K394K	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	8	1339	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	394			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	c.1182G>A	CCDS8486.1																																																																																				0.468	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		57	111	0	0	0	0.01441	0	57	111				
WNK1	65125	broad.mit.edu	37	12	994187	994187	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:994187C>T	ENST00000315939.6	+	19	4860	c.4217C>T	c.(4216-4218)tCa>tTa	p.S1406L	WNK1_ENST00000537687.1_Missense_Mutation_p.S1666L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1904L|WNK1_ENST00000535572.1_Missense_Mutation_p.S1159L|WNK1_ENST00000340908.4_Missense_Mutation_p.S999L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1406					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1406L(2)|p.S1666L(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCTGAATCACCAGTACTT	0.498																																					Colon(19;451 567 6672 12618 28860)	Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	4	Substitution - Missense(4)		lung(4)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4216-4218)TCA>TTA		WNK lysine deficient protein kinase 1							152.0	152.0	152.0					12																	994187		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994187C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4217C>T	12.37:g.994187C>T	ENSP00000313059:p.Ser1406Leu					WNK1_uc001qip.3_Missense_Mutation_p.S1159L|WNK1_uc001qir.3_Missense_Mutation_p.S579L	p.S1406L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	4724	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1406					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.4217C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	9.518	1.107624	0.20714	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.70986	-0.53;-0.48;-0.5;-0.52;0.68	5.41	4.52	0.55395	.	0.598969	0.15757	N	0.246122	T	0.61060	0.2317	L	0.44542	1.39	0.09310	N	0.999999	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.001	T	0.52939	-0.8508	10	0.44086	T	0.13	-0.1179	8.7906	0.34848	0.1577:0.7636:0.0:0.0786	.	1159;1159;1406	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	1159;1406;1666;579;1904;999	ENSP00000441972:S1159L;ENSP00000313059:S1406L;ENSP00000444465:S1666L;ENSP00000433548:S1904L;ENSP00000341292:S999L	ENSP00000252477:S579L	S	+	2	0	WNK1	864448	0.143000	0.22626	0.153000	0.22517	0.131000	0.20780	2.692000	0.47018	1.427000	0.47276	-0.136000	0.14681	TCA		0.498	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		21	60	0	0	0	0.010504	0	21	60				
AKAP3	10566	broad.mit.edu	37	12	4747357	4747357	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:4747357T>C	ENST00000545990.2	-	4	530	c.6A>G	c.(4-6)tcA>tcG	p.S2S	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Silent_p.S2S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	2					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S2S(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAACCTTTTCTGACATCTGGA	0.428																																							uc001qnb.3		NA																	4	Substitution - coding silent(4)		lung(4)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(4-6)TCA>TCG		A-kinase anchor protein 3							179.0	185.0	183.0					12																	4747357		2203	4300	6503	SO:0001819	synonymous_variant	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4747357T>C	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.6A>G	12.37:g.4747357T>C							p.S2S	NM_006422	NP_006413	O75969	AKAP3_HUMAN			3	235	-			2					O75945|Q86X01|Q9UM61	Silent	SNP	ENST00000545990.2	37	c.6A>G	CCDS8531.1																																																																																				0.428	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		16	42	0	0	0	0.004007	0	16	42				
GRIN2B	2904	broad.mit.edu	37	12	13717013	13717013	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:13717013G>T	ENST00000609686.1	-	13	3368	c.3159C>A	c.(3157-3159)gaC>gaA	p.D1053E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1053					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.D1053E(2)|p.D1053D(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGATCAAGTCGTCGTGGCCAC	0.572																																							uc001rbt.2		NA																	3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(2)|prostate(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3157-3159)GAC>GAA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						62.0	53.0	56.0					12																	13717013		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717013G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3159C>A	12.37:g.13717013G>T	ENSP00000477455:p.Asp1053Glu						p.D1053E	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3338	-			1053			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3159C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.931607	0.00488	.	.	ENSG00000150086	ENST00000279593	T	0.11604	2.76	5.57	-6.72	0.01755	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.164300	0.53938	D	0.000049	T	0.05823	0.0152	N	0.20401	0.57	0.44771	D	0.99777	B	0.23806	0.091	B	0.29942	0.109	T	0.39941	-0.9589	10	0.02654	T	1	.	18.2134	0.89878	0.6078:0.0:0.3922:0.0	.	1053	Q13224	NMDE2_HUMAN	E	1053	ENSP00000279593:D1053E	ENSP00000279593:D1053E	D	-	3	2	GRIN2B	13608280	0.038000	0.19896	0.328000	0.25416	0.068000	0.16541	-0.617000	0.05584	-1.704000	0.01407	-1.761000	0.00669	GAC		0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	20	1	0	0.00010058	0.013537	0.000108581	13	20				
GRIN2B	2904	broad.mit.edu	37	12	13717313	13717313	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:13717313G>T	ENST00000609686.1	-	13	3068	c.2859C>A	c.(2857-2859)ccC>ccA	p.P953P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	953					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P953P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTCCTCACAGGGCGGGTTGT	0.547																																							uc001rbt.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2857-2859)CCC>CCA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						186.0	166.0	173.0					12																	13717313		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717313G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2859C>A	12.37:g.13717313G>T							p.P953P	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3038	-			953			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2859C>A	CCDS8662.1																																																																																				0.547	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			23	63	1	0	3.5997e-14	0.014323	4.67092e-14	23	63				
ABCC9	10060	broad.mit.edu	37	12	21981911	21981911	+	Missense_Mutation	SNP	C	C	G	rs12298510		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:21981911C>G	ENST00000261201.4	-	29	3649	c.3650G>C	c.(3649-3651)aGa>aCa	p.R1217T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1217T|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1181T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1217	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1217T(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTCCAGCCATCTGTTGGCAGC	0.418																																							uc001rfi.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(2)	6						c.(3649-3651)AGA>ACA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						209.0	188.0	195.0					12																	21981911		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21981911C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3650G>C	12.37:g.21981911C>G	ENSP00000261201:p.Arg1217Thr					ABCC9_uc001rfh.2_Missense_Mutation_p.R1217T|ABCC9_uc001rfj.1_Missense_Mutation_p.R1181T	p.R1217T	NM_005691	NP_005682	O60706	ABCC9_HUMAN			29	3670	-			1217			Extracellular (Potential).|ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3650G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611903	0.66558	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90004	-2.6;-1.59;-2.6;-2.6	4.25	4.25	0.50352	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.055211	0.64402	D	0.000001	D	0.95890	0.8662	H	0.97896	4.1	0.49389	D	0.999783	P;P	0.48503	0.911;0.785	P;P	0.58780	0.845;0.531	D	0.97108	0.9802	10	0.87932	D	0	-5.5821	13.8227	0.63333	0.1532:0.8468:0.0:0.0	.	1217;1217	O60706;O60706-2	ABCC9_HUMAN;.	T	1217;844;1217;1181	ENSP00000261200:R1217T;ENSP00000440521:R844T;ENSP00000261201:R1217T;ENSP00000261202:R1181T	ENSP00000261200:R1217T	R	-	2	0	ABCC9	21873178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.512000	0.67030	2.361000	0.80049	0.467000	0.42956	AGA		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		11	38	0	0	0	0.013537	0	11	38				
ABCC9	10060	broad.mit.edu	37	12	22068796	22068796	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:22068796G>T	ENST00000261201.4	-	5	621	c.622C>A	c.(622-624)Ctc>Atc	p.L208I	ABCC9_ENST00000261200.4_Missense_Mutation_p.L208I|ABCC9_ENST00000345162.2_Missense_Mutation_p.L208I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	208					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.L208I(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGATCCTGGAGGTCTTCAGGA	0.363																																							uc001rfi.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(2)	6						c.(622-624)CTC>ATC		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						60.0	59.0	59.0					12																	22068796		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068796G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.622C>A	12.37:g.22068796G>T	ENSP00000261201:p.Leu208Ile					ABCC9_uc001rfh.2_Missense_Mutation_p.L208I|ABCC9_uc001rfj.1_Missense_Mutation_p.L208I	p.L208I	NM_005691	NP_005682	O60706	ABCC9_HUMAN			5	642	-			208			Cytoplasmic (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.622C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285283	0.80803	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92348	-3.01;-3.02;-3.02	5.01	5.01	0.66863	.	0.065693	0.64402	D	0.000008	D	0.95284	0.8470	M	0.82323	2.585	0.45704	D	0.998614	D;P	0.56035	0.974;0.865	P;P	0.55615	0.78;0.521	D	0.95161	0.8281	10	0.49607	T	0.09	-13.0651	18.5103	0.90914	0.0:0.0:1.0:0.0	.	208;208	O60706;O60706-2	ABCC9_HUMAN;.	I	208	ENSP00000261200:L208I;ENSP00000261201:L208I;ENSP00000261202:L208I	ENSP00000261200:L208I	L	-	1	0	ABCC9	21960063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.232000	0.65332	2.605000	0.88082	0.650000	0.86243	CTC		0.363	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		7	13	1	0	8.12818e-05	0.001984	8.78788e-05	7	13				
ITPR2	3709	broad.mit.edu	37	12	26553192	26553192	+	Splice_Site	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:26553192C>G	ENST00000381340.3	-	53	7816		c.e53-1		RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.?(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTTCATCAGCTATAAAAACA	0.313																																							uc001rhg.2		NA																	2	Unknown(2)		lung(2)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.e53-1		inositol 1,4,5-triphosphate receptor, type 2							71.0	65.0	67.0					12																	26553192		1835	4080	5915	SO:0001630	splice_region_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26553192C>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7400-1G>C	12.37:g.26553192C>G						ITPR2_uc009zjg.1_Splice_Site_p.A618_splice	p.A2467_splice	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			53	7817	-	Colorectal(261;0.0847)							O94773	Splice_Site	SNP	ENST00000381340.3	37	c.7400_splice	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263379	0.39995	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.46823	D	0.999214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0179	0.80457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITPR2	26444459	0.997000	0.39634	0.314000	0.25224	0.334000	0.28698	4.155000	0.58131	2.508000	0.84585	0.563000	0.77884	.		0.313	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	Intron	10	27	0	0	0	0.006214	0	10	27				
TMTC1	83857	broad.mit.edu	37	12	29786167	29786167	+	Missense_Mutation	SNP	C	C	A	rs139579223		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:29786167C>A	ENST00000539277.1	-	6	1099	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	TMTC1_ENST00000552618.1_Missense_Mutation_p.E409D|TMTC1_ENST00000551659.1_Missense_Mutation_p.E409D|TMTC1_ENST00000256062.5_Missense_Mutation_p.E239D|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.E301D	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	347						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.E239D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCCATATGGTCTCTACCAGAG	0.507																																							uc001rjb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(715-717)GAG>GAT		transmembrane and tetratricopeptide repeat							122.0	106.0	112.0					12																	29786167		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29786167C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1041G>T	12.37:g.29786167C>A	ENSP00000442046:p.Glu347Asp					TMTC1_uc001riz.2_5'UTR|TMTC1_uc001rja.2_Missense_Mutation_p.E83D|TMTC1_uc001rjc.1_Missense_Mutation_p.E301D	p.E239D	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			6	1191	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		347					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.717G>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	.	18.98	3.738354	0.69304	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.53	3.71	0.42584	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.64997	1.995	0.43199	D	0.995049	D;D;D	0.76494	0.982;0.994;0.999	P;P;D	0.81914	0.768;0.804;0.995	T	0.58831	-0.7567	9	.	.	.	-32.2975	6.3726	0.21489	0.0:0.6847:0.1524:0.163	.	301;347;409	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	D	110;239;409;409;347;301	ENSP00000256062:E239D;ENSP00000448112:E409D;ENSP00000449043:E409D;ENSP00000442046:E347D;ENSP00000370622:E301D	.	E	-	3	2	TMTC1	29677434	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.091000	0.41691	1.326000	0.45319	0.655000	0.94253	GAG		0.507	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		9	36	1	0	1.12685e-05	0.004482	1.25378e-05	9	36				
CNTN1	1272	broad.mit.edu	37	12	41410526	41410526	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:41410526A>G	ENST00000551295.2	+	19	2344	c.2227A>G	c.(2227-2229)Ata>Gta	p.I743V	CNTN1_ENST00000348761.2_Missense_Mutation_p.I732V|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.I743V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	743	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.I743V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTTTGGTTACATAGTGGCATT	0.363																																							uc001rmm.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2227-2229)ATA>GTA		contactin 1 isoform 1 precursor							89.0	80.0	83.0					12																	41410526		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410526A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2227A>G	12.37:g.41410526A>G	ENSP00000447006:p.Ile743Val					CNTN1_uc001rmn.1_Missense_Mutation_p.I732V	p.I743V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			19	2340	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	743			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2227A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	8.183	0.794324	0.16327	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.56444	0.46;0.46;0.46	5.35	0.524	0.17066	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.096155	0.64402	N	0.000002	T	0.29524	0.0736	N	0.16066	0.365	0.80722	D	1	B;B	0.19331	0.028;0.035	B;B	0.26864	0.044;0.074	T	0.06661	-1.0814	10	0.09843	T	0.71	.	9.5973	0.39582	0.5677:0.0:0.4323:0.0	.	732;743	Q12860-2;Q12860	.;CNTN1_HUMAN	V	743;743;732	ENSP00000447006:I743V;ENSP00000325660:I743V;ENSP00000261160:I732V	ENSP00000325660:I743V	I	+	1	0	CNTN1	39696793	1.000000	0.71417	0.778000	0.31720	0.943000	0.58893	2.461000	0.45040	0.185000	0.20105	0.533000	0.62120	ATA		0.363	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		12	30	0	0	0	0.010729	0	12	30				
NELL2	4753	broad.mit.edu	37	12	45004705	45004705	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:45004705A>T	ENST00000429094.2	-	14	1997	c.1493T>A	c.(1492-1494)tTa>tAa	p.L498*	NELL2_ENST00000452445.2_Nonsense_Mutation_p.L498*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.L521*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.L497*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.L497*|NELL2_ENST00000437801.2_Nonsense_Mutation_p.L548*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.L497*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	498	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L548*(2)|p.L498*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTTGAAGCATAAAGCATTTTC	0.388																																							uc001rog.2		NA																	4	Substitution - Nonsense(4)		lung(4)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1492-1494)TTA>TAA		NEL-like protein 2 isoform b precursor							176.0	141.0	153.0					12																	45004705		2203	4300	6503	SO:0001587	stop_gained	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45004705A>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1493T>A	12.37:g.45004705A>T	ENSP00000390680:p.Leu498*					NELL2_uc001rof.3_Nonsense_Mutation_p.L497*|NELL2_uc001roh.2_Nonsense_Mutation_p.L498*|NELL2_uc009zkd.2_Nonsense_Mutation_p.L497*|NELL2_uc010skz.1_Nonsense_Mutation_p.L548*|NELL2_uc010sla.1_Nonsense_Mutation_p.L521*|NELL2_uc001roi.1_Nonsense_Mutation_p.L498*|NELL2_uc010slb.1_Nonsense_Mutation_p.L497*	p.L498*	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	14	2088	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	498			EGF-like 3.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000429094.2	37	c.1493T>A	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	37|37	5.989002|5.989002	0.97179|0.97179	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684|ENST00000550313	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.167322|.	0.39146|.	N|.	0.001441|.	.|T	.|0.67002	.|0.2847	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71593	.|-0.4546	.|3	0.10111|.	T|.	0.7|.	-7.426|-7.426	15.1563|15.1563	0.72746|0.72746	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	497;498;497;498;497;521;548;497|242	.|.	ENSP00000327988:L521X|.	L|Y	-|-	2|1	0|0	NELL2|NELL2	43290972|43290972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.868000|8.868000	0.92320|0.92320	1.985000|1.985000	0.57927|0.57927	0.524000|0.524000	0.50904|0.50904	TTA|TAT		0.388	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		22	37	0	0	0	0.014323	0	22	37				
DBX2	440097	broad.mit.edu	37	12	45410214	45410214	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:45410214C>G	ENST00000332700.6	-	4	1046	c.875G>C	c.(874-876)aGg>aCg	p.R292T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	292					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R292T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AGAATTCTCCCTCCATCTTGG	0.502																																							uc001rok.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(874-876)AGG>ACG		developing brain homeobox 2							102.0	107.0	105.0					12																	45410214		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45410214C>G		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.875G>C	12.37:g.45410214C>G	ENSP00000331470:p.Arg292Thr						p.R292T	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	4	1047	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	292						Missense_Mutation	SNP	ENST00000332700.6	37	c.875G>C	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.128018	0.56721	.	.	ENSG00000185610	ENST00000332700	D	0.91068	-2.78	5.76	5.76	0.90799	.	0.164378	0.43919	D	0.000519	D	0.84547	0.5496	L	0.34521	1.04	0.33704	D	0.614923	B	0.26081	0.141	B	0.23574	0.047	T	0.82952	-0.0202	10	0.15952	T	0.53	-9.9157	14.1799	0.65566	0.0:0.8501:0.1498:0.0	.	292	Q6ZNG2	DBX2_HUMAN	T	292	ENSP00000331470:R292T	ENSP00000331470:R292T	R	-	2	0	DBX2	43696481	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.489000	0.45285	2.714000	0.92807	0.650000	0.86243	AGG		0.502	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		13	48	0	0	0	0.013537	0	13	48				
SCAF11	9169	broad.mit.edu	37	12	46321290	46321290	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:46321290C>G	ENST00000369367.3	-	11	2427	c.2194G>C	c.(2194-2196)Gaa>Caa	p.E732Q	SCAF11_ENST00000419565.2_Missense_Mutation_p.E732Q|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.E417Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.E540Q	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	732					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)	p.E732Q(1)		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						GGTTCAACTTCAGATTCATTT	0.348																																							uc001rox.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2194-2196)GAA>CAA		splicing factor, arginine/serine-rich 2,							138.0	134.0	135.0					12																	46321290		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321290C>G	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.2194G>C	12.37:g.46321290C>G	ENSP00000358374:p.Glu732Gln					SFRS2IP_uc001row.2_Missense_Mutation_p.E417Q|SFRS2IP_uc001roy.1_Missense_Mutation_p.E806Q	p.E732Q	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	2481	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	732					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2194G>C	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323077	0.24080	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.49139	1.4;2.14;1.4;2.14;0.79	5.93	5.05	0.67936	.	0.171410	0.41294	D	0.000907	T	0.41926	0.1180	L	0.57536	1.79	0.30943	N	0.72559	B;B	0.32753	0.383;0.162	B;B	0.34418	0.182;0.037	T	0.47235	-0.9133	10	0.25106	T	0.35	-11.9247	8.4887	0.33086	0.0:0.6756:0.1864:0.138	.	540;732	F8VXG7;Q99590	.;SCAFB_HUMAN	Q	417;732;540;732;672	ENSP00000449812:E417Q;ENSP00000358374:E732Q;ENSP00000448864:E540Q;ENSP00000413036:E732Q;ENSP00000446746:E672Q	ENSP00000358374:E732Q	E	-	1	0	SCAF11	44607557	0.998000	0.40836	1.000000	0.80357	0.911000	0.54048	1.923000	0.40055	1.526000	0.49068	0.655000	0.94253	GAA		0.348	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		5	69	0	0	0	0.001168	0	5	69				
ASB8	140461	broad.mit.edu	37	12	48543473	48543473	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:48543473G>T	ENST00000317697.3	-	4	712	c.543C>A	c.(541-543)aaC>aaA	p.N181K	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.N181K|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	181					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.N181K(2)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGCCTATTAGGTTGATGACTC	0.522																																							uc001rrh.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(541-543)AAC>AAA		ankyrin repeat and SOCS box-containing 8							71.0	69.0	69.0					12																	48543473		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543473G>T	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.543C>A	12.37:g.48543473G>T	ENSP00000320893:p.Asn181Lys					ASB8_uc010slr.1_Missense_Mutation_p.N177K	p.N181K	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			4	712	-			181					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.543C>A	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223217	0.79464	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549	T;T	0.71461	-0.57;-0.57	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.86814	0.6023	M	0.92317	3.295	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.89195	0.3553	10	0.66056	D	0.02	-18.3404	13.442	0.61119	0.0777:0.0:0.9223:0.0	.	181	Q9H765	ASB8_HUMAN	K	181;181;148	ENSP00000320893:N181K;ENSP00000445622:N181K	ENSP00000320893:N181K	N	-	3	2	ASB8	46829740	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.430000	0.44766	2.600000	0.87896	0.655000	0.94253	AAC		0.522	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			18	56	1	0	1.45105e-14	0.006122	1.88793e-14	18	56				
WNT1	7471	broad.mit.edu	37	12	49373271	49373271	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:49373271C>T	ENST00000293549.3	+	2	161	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	42					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.S42F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		AACGTAGCCTCCTCCACGAAC	0.552																																							uc001rsu.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(124-126)TCC>TTC		wingless-type MMTV integration site family,							99.0	95.0	96.0					12																	49373271		2203	4300	6503	SO:0001583	missense	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49373271C>T	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.125C>T	12.37:g.49373271C>T	ENSP00000293549:p.Ser42Phe						p.S42F	NM_005430	NP_005421	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	2	323	+			42					Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	c.125C>T	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769489	0.69992	.	.	ENSG00000125084	ENST00000293549	T	0.76709	-1.04	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000001	T	0.65739	0.2720	N	0.19112	0.55	0.80722	D	1	P	0.44578	0.838	B	0.38562	0.276	T	0.71500	-0.4574	10	0.51188	T	0.08	.	16.8853	0.86074	0.0:1.0:0.0:0.0	.	42	P04628	WNT1_HUMAN	F	42	ENSP00000293549:S42F	ENSP00000293549:S42F	S	+	2	0	WNT1	47659538	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.397000	0.59690	2.501000	0.84356	0.655000	0.94253	TCC		0.552	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			25	71	0	0	0	0.007291	0	25	71				
KMT2D	8085	broad.mit.edu	37	12	49435132	49435132	+	Missense_Mutation	SNP	C	C	A	rs373429610		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:49435132C>A	ENST00000301067.7	-	31	6420	c.6421G>T	c.(6421-6423)Ggg>Tgg	p.G2141W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2141	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1871W(1)|p.G2141W(1)									TTCAGGAACCCGTCCGCAGAG	0.711																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6421-6423)GGG>TGG		myeloid/lymphoid or mixed-lineage leukemia 2							6.0	9.0	8.0					12																	49435132		1754	3935	5689	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49435132C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6421G>T	12.37:g.49435132C>A	ENSP00000301067:p.Gly2141Trp	HNSCC(34;0.089)					p.G2141W	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6421	-			2141			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6421G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054618	0.19907	.	.	ENSG00000167548	ENST00000301067	T	0.81415	-1.49	3.83	3.83	0.44106	.	0.000000	0.33534	N	0.004815	T	0.77329	0.4114	N	0.08118	0	0.41624	D	0.988988	D	0.89917	1.0	D	0.74674	0.984	T	0.80832	-0.1206	10	0.87932	D	0	.	10.9327	0.47228	0.1881:0.8119:0.0:0.0	.	2141	O14686	MLL2_HUMAN	W	2141	ENSP00000301067:G2141W	ENSP00000301067:G2141W	G	-	1	0	MLL2	47721399	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	3.506000	0.53364	2.432000	0.82394	0.561000	0.74099	GGG		0.711	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	12	1	0	0.00198382	0.001984	0.00206488	7	12				
NR4A1	3164	broad.mit.edu	37	12	52448768	52448768	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52448768G>T	ENST00000243050.1	+	3	970	c.656G>T	c.(655-657)gGg>gTg	p.G219V	NR4A1_ENST00000394825.1_Missense_Mutation_p.G219V|NR4A1_ENST00000550082.1_Missense_Mutation_p.G232V|NR4A1_ENST00000545748.1_Missense_Mutation_p.G273V|NR4A1_ENST00000394824.2_Missense_Mutation_p.G219V|NR4A1_ENST00000548232.1_Missense_Mutation_p.G219V|NR4A1_ENST00000360284.3_Missense_Mutation_p.G232V	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	219					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G219V(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CACCAGCTGGGGGAGGGAGAG	0.632																																							uc001rzs.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(655-657)GGG>GTG		nuclear receptor subfamily 4, group A, member 1							79.0	92.0	87.0					12																	52448768		2203	4300	6503	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52448768G>T	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.656G>T	12.37:g.52448768G>T	ENSP00000243050:p.Gly219Val					NR4A1_uc010sno.1_Missense_Mutation_p.G232V|NR4A1_uc001rzr.2_Missense_Mutation_p.G219V|NR4A1_uc009zmb.1_Missense_Mutation_p.G219V|NR4A1_uc001rzt.2_Missense_Mutation_p.G219V|NR4A1_uc009zmc.2_5'Flank	p.G219V	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	970	+			219					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.656G>T	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	6.744	0.506130	0.12883	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824;ENST00000548232	D;D;D;D;D;D;D	0.92446	-3.02;-3.04;-3.02;-3.02;-3.02;-3.02;-3.01	4.93	2.05	0.26809	.	0.595724	0.15931	N	0.237664	T	0.80491	0.4633	N	0.08118	0	0.58432	D	0.999996	B;B;B	0.15141	0.012;0.004;0.0	B;B;B	0.09377	0.004;0.004;0.0	T	0.67074	-0.5762	10	0.18710	T	0.47	.	9.3227	0.37975	0.0:0.13:0.344:0.5259	.	232;219;219	B4DML7;P22736;Q15627	.;NR4A1_HUMAN;.	V	232;273;232;219;219;219;219	ENSP00000353427:G232V;ENSP00000440864:G273V;ENSP00000449539:G232V;ENSP00000243050:G219V;ENSP00000378302:G219V;ENSP00000378301:G219V;ENSP00000449587:G219V	ENSP00000243050:G219V	G	+	2	0	NR4A1	50735035	1.000000	0.71417	0.984000	0.44739	0.773000	0.43773	0.986000	0.29590	0.352000	0.24053	-1.149000	0.01842	GGG		0.632	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			82	159	1	0	3.80779e-57	0.01441	5.36267e-57	82	159				
ATG101	60673	broad.mit.edu	37	12	52467573	52467573	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52467573A>G	ENST00000336854.4	+	3	617	c.139A>G	c.(139-141)Att>Gtt	p.I47V		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		47				I -> T (in Ref. 1; BAB13907). {ECO:0000305}.	autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)	p.I47V(3)		endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CACCTACTCCATTGGCACCGT	0.587																																							uc001rzu.3		NA																	3	Substitution - Missense(3)		lung(2)|endometrium(1)		0						c.(139-141)ATT>GTT		Atg13-interacting protein							188.0	130.0	150.0					12																	52467573		2203	4300	6503	SO:0001583	missense	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52467573A>G																												ENST00000336854.4:c.139A>G	12.37:g.52467573A>G	ENSP00000338990:p.Ile47Val					C12orf44_uc009zmd.2_Missense_Mutation_p.I47V	p.I47V	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	3	614	+			47	I -> T (in Ref. 1; BAB13907).				Q9HAE2|Q9HBN1	Missense_Mutation	SNP	ENST00000336854.4	37	c.139A>G	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	A	8.015	0.758356	0.15846	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000548915;ENST00000550984	.	.	.	5.26	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	N	0.13235	0.315	0.52501	D	0.999953	B	0.17268	0.021	B	0.15870	0.014	T	0.09684	-1.0663	9	0.09084	T	0.74	-22.4952	10.4379	0.44445	0.8362:0.1638:0.0:0.0	.	47	Q9BSB4	ATGA1_HUMAN	V	47	.	ENSP00000338990:I47V	I	+	1	0	C12orf44	50753840	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.708000	0.74660	0.924000	0.37069	0.459000	0.35465	ATT		0.587	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			18	34	0	0	0	0.00499	0	18	34				
KRT82	3888	broad.mit.edu	37	12	52788852	52788853	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:52788852_52788853GG>TT	ENST00000257974.2	-	9	1525_1526	c.1448_1449CC>AA	c.(1447-1449)cCC>cAA	p.P483Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.P483Q(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGGCTCGCAGGGGACATAGAG	0.634																																							uc001sai.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1447-1449)CCC>CAA		keratin 82																																				SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52788852_52788853GG>TT	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1448_1449delinsTT	12.37:g.52788852_52788853delinsTT	ENSP00000257974:p.Pro483Gln						p.P483Q	NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	9	1563_1564	-			483			Tail.			Missense_Mutation	DNP	ENST00000257974.2	37	c.1448_1449CC>AA	CCDS8826.1																																																																																				0.634	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		25	76	0	0	0	0.004672	0	25	76				
KRT73	319101	broad.mit.edu	37	12	53010126	53010126	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53010126G>A	ENST00000305748.3	-	2	520	c.486C>T	c.(484-486)acC>acT	p.T162T	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	162	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.T162T(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCCACTTGGTCTCCAGCA	0.552																																							uc001sas.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(484-486)ACC>ACT		keratin 73							124.0	115.0	118.0					12																	53010126		2203	4300	6503	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53010126G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.486C>T	12.37:g.53010126G>A							p.T162T	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	521	-			162			Coil 1A.|Rod.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.486C>T	CCDS8834.1																																																																																				0.552	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		18	78	0	0	0	0.00499	0	18	78				
KRT2	3849	broad.mit.edu	37	12	53042001	53042001	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53042001C>A	ENST00000309680.3	-	5	1099	c.1078G>T	c.(1078-1080)Gcc>Tcc	p.A360S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	360	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A360S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCCTCTGGGCGATCTCCTCA	0.572																																							uc001sat.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1078-1080)GCC>TCC		keratin 2							214.0	189.0	197.0					12																	53042001		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53042001C>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1078G>T	12.37:g.53042001C>A	ENSP00000310861:p.Ala360Ser						p.A360S	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	5	1111	-			360			Coil 2.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1078G>T	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611133	0.66558	.	.	ENSG00000172867	ENST00000309680	T	0.79554	-1.28	4.52	4.52	0.55395	Filament (1);	.	.	.	.	D	0.91129	0.7207	M	0.90759	3.145	0.52099	D	0.999947	D	0.65815	0.995	D	0.67103	0.949	D	0.93066	0.6478	9	0.87932	D	0	.	17.8008	0.88586	0.0:1.0:0.0:0.0	.	360	P35908	K22E_HUMAN	S	360	ENSP00000310861:A360S	ENSP00000310861:A360S	A	-	1	0	KRT2	51328268	0.974000	0.33945	0.125000	0.21846	0.047000	0.14425	2.439000	0.44846	2.535000	0.85469	0.563000	0.77884	GCC		0.572	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		44	87	1	0	6.21074e-16	0.011902	8.19073e-16	44	87				
KRT2	3849	broad.mit.edu	37	12	53045355	53045355	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53045355G>A	ENST00000309680.3	-	1	593	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	191	Coil 1A.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.S191F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTCAATGAAGGAGGCAAATTT	0.483																																							uc001sat.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(571-573)TCC>TTC		keratin 2							128.0	118.0	121.0					12																	53045355		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045355G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.572C>T	12.37:g.53045355G>A	ENSP00000310861:p.Ser191Phe						p.S191F	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	605	-			191			Coil 1A.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.572C>T	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037043	0.54896	.	.	ENSG00000172867	ENST00000309680	D	0.91295	-2.82	5.54	4.65	0.58169	Filament (1);	.	.	.	.	D	0.96688	0.8919	H	0.96015	3.755	0.29417	N	0.860812	D	0.89917	1.0	D	0.83275	0.996	D	0.93159	0.6556	9	0.87932	D	0	.	12.5418	0.56174	0.0:0.1269:0.7413:0.1319	.	191	P35908	K22E_HUMAN	F	191	ENSP00000310861:S191F	ENSP00000310861:S191F	S	-	2	0	KRT2	51331622	0.453000	0.25721	0.981000	0.43875	0.988000	0.76386	0.986000	0.29590	1.483000	0.48342	0.655000	0.94253	TCC		0.483	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		12	48	0	0	0	0.010729	0	12	48				
KRT8	3856	broad.mit.edu	37	12	53291304	53291304	+	Missense_Mutation	SNP	G	G	C	rs267607479		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53291304G>C	ENST00000552551.1	-	9	1792	c.1360C>G	c.(1360-1362)Cgc>Ggc	p.R454G	KRT8_ENST00000546897.1_Missense_Mutation_p.R454G|KRT8_ENST00000552150.1_Missense_Mutation_p.R482G|KRT8_ENST00000293308.6_Missense_Mutation_p.R454G			P05787	K2C8_HUMAN	keratin 8	454	Tail.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GAGCTGGTGCGGCTGAAggag	0.637																																							uc001sbd.2		NA																	0				ovary(1)|skin(1)	2	GRCh37	CM057883	KRT8	M		c.(1360-1362)CGC>GGC		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						27.0	31.0	30.0					12																	53291304		2087	3955	6042	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53291304G>C	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1360C>G	12.37:g.53291304G>C	ENSP00000447566:p.Arg454Gly					KRT8_uc009zmj.2_3'UTR|KRT8_uc009zmk.1_Missense_Mutation_p.R482G|KRT8_uc009zml.1_Missense_Mutation_p.R454G|KRT8_uc009zmm.1_Missense_Mutation_p.R454G	p.R454G	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	8	1463	-			454			Tail.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.1360C>G	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388434	0.42308	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	T;T;T;D	0.81821	-1.47;-1.47;-1.47;-1.54	4.16	4.16	0.48862	.	0.242151	0.39985	N	0.001208	T	0.72028	0.3410	L	0.51914	1.62	0.27746	N	0.944317	B;B	0.10296	0.003;0.002	B;B	0.14023	0.009;0.01	T	0.56926	-0.7898	10	0.21014	T	0.42	.	9.6223	0.39730	0.0:0.0:0.7918:0.2082	.	482;454	F8VXB4;P05787	.;K2C8_HUMAN	G	454;454;454;482	ENSP00000447566:R454G;ENSP00000293308:R454G;ENSP00000447402:R454G;ENSP00000449404:R482G	ENSP00000293308:R454G	R	-	1	0	KRT8	51577571	0.441000	0.25626	0.399000	0.26333	0.951000	0.60555	1.434000	0.34958	2.601000	0.87937	0.561000	0.74099	CGC		0.637	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		9	86	0	0	0	0.006214	0	9	86				
TENC1	23371	broad.mit.edu	37	12	53451395	53451395	+	Missense_Mutation	SNP	T	T	C	rs376985824		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:53451395T>C	ENST00000314250.6	+	12	1180	c.890T>C	c.(889-891)aTg>aCg	p.M297T	TENC1_ENST00000451358.1_Missense_Mutation_p.M297T|TENC1_ENST00000314276.3_Missense_Mutation_p.M307T|TENC1_ENST00000552570.1_Missense_Mutation_p.M297T|TENC1_ENST00000379902.3_Missense_Mutation_p.M173T|TENC1_ENST00000546602.1_Missense_Mutation_p.M297T|TENC1_ENST00000549700.1_Missense_Mutation_p.M297T	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	297					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.M307T(2)|p.M297T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCCATCAGAATGAACAGCAGC	0.537																																							uc001sbp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(889-891)ATG>ACG		tensin like C1 domain containing phosphatase		T	THR/MET,THR/MET,THR/MET	0,4406		0,0,2203	199.0	193.0	195.0		920,890,518	4.3	1.0	12		195	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TENC1	NM_015319.2,NM_170754.2,NM_198316.1	81,81,81	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	307/1420,297/1410,173/1286	53451395	1,13005	2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53451395T>C	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.890T>C	12.37:g.53451395T>C	ENSP00000319684:p.Met297Thr					TENC1_uc001sbl.2_Missense_Mutation_p.M173T|TENC1_uc001sbn.2_Missense_Mutation_p.M307T|TENC1_uc001sbo.1_Missense_Mutation_p.M297T|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	p.M297T	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			12	1025	+			297					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.890T>C	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738162	0.69304	0.0	1.16E-4	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	4.3	4.3	0.51218	Tensin phosphatase, C2 domain (1);C2 calcium/lipid-binding domain, CaLB (1);	0.049465	0.85682	D	0.000000	D	0.89174	0.6640	M	0.76574	2.34	0.52501	D	0.999952	D;P;D	0.58268	0.982;0.864;0.978	P;P;P	0.56042	0.76;0.79;0.647	D	0.90410	0.4409	10	0.87932	D	0	.	12.0335	0.53412	0.0:0.0:0.0:1.0	.	297;297;307	Q63HR2;F8W661;Q63HR2-4	TENC1_HUMAN;.;.	T	173;307;297;297;297;297;297;297	ENSP00000369232:M173T;ENSP00000319756:M307T;ENSP00000319684:M297T;ENSP00000393362:M297T;ENSP00000449363:M297T;ENSP00000447021:M297T;ENSP00000449361:M297T	ENSP00000319684:M297T	M	+	2	0	TENC1	51737662	1.000000	0.71417	0.994000	0.49952	0.870000	0.49936	7.662000	0.83803	1.899000	0.54978	0.260000	0.18958	ATG		0.537	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		221	193	0	0	0	0.01441	0	221	193				
HOXC13	3229	broad.mit.edu	37	12	54338891	54338891	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54338891A>G	ENST00000243056.3	+	2	1000	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	282					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.S282G(2)|p.S282R(1)		breast(1)|large_intestine(1)|skin(1)	3						ATACGCGGCTAGCAAGTTCAT	0.607			T	NUP98	AML																																		uc001sei.2		NA		Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		3	Substitution - Missense(3)		lung(2)|large_intestine(1)	breast(1)	1						c.(844-846)AGC>GGC		homeobox C13							72.0	79.0	76.0					12																	54338891		2203	4300	6503	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54338891A>G		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.844A>G	12.37:g.54338891A>G	ENSP00000243056:p.Ser282Gly					HOXC13_uc010sop.1_RNA	p.S282G	NM_017410	NP_059106	P31276	HXC13_HUMAN			2	959	+			282			Homeobox.		Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.844A>G	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.767473	0.90020	.	.	ENSG00000123364	ENST00000243056	D	0.95690	-3.78	4.95	4.95	0.65309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	M	0.67397	2.05	0.80722	D	1	P	0.46578	0.88	P	0.56960	0.81	D	0.96986	0.9718	10	0.87932	D	0	.	14.0373	0.64654	1.0:0.0:0.0:0.0	.	282	P31276	HXC13_HUMAN	G	282	ENSP00000243056:S282G	ENSP00000243056:S282G	S	+	1	0	HOXC13	52625158	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.065000	0.93941	2.224000	0.72417	0.533000	0.62120	AGC		0.607	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			29	119	0	0	0	0.007291	0	29	119				
HNRNPA1	3178	broad.mit.edu	37	12	54675174	54675174	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54675174C>G	ENST00000340913.6	+	2	73	c.20C>G	c.(19-21)cCt>cGt	p.P7R	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P7R|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P7R|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.P7R|CBX5_ENST00000209875.4_5'Flank	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	7	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.P7R(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTCTAGTCTCCTAAAGAGCCC	0.483																																					Colon(83;502 1289 8436 16406 24870)	Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(2)|ovary(1)	3						c.(19-21)CCT>CGT		heterogeneous nuclear ribonucleoprotein A1							79.0	82.0	81.0					12																	54675174		1943	4177	6120	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675174C>G	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.20C>G	12.37:g.54675174C>G	ENSP00000341826:p.Pro7Arg					CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.P7R|HNRNPA1_uc009zng.2_Missense_Mutation_p.P7R|HNRNPA1_uc009znh.2_Missense_Mutation_p.P7R|HNRNPA1_uc009zni.2_Missense_Mutation_p.P7R|HNRNPA1_uc001sfn.2_Missense_Mutation_p.P7R|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_5'UTR|HNRNPA1_uc009znj.1_5'Flank	p.P7R	NM_031157	NP_112420	P09651	ROA1_HUMAN			2	124	+			7			Globular A domain.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.20C>G	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076703	0.76415	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.43	4.43	0.53597	.	0.000000	0.50627	D	0.000115	D	0.91962	0.7454	L	0.46157	1.445	0.50467	D	0.999871	D;D;D;P;D;D	0.69078	0.982;0.982;0.997;0.899;0.982;0.975	P;D;D;P;D;D	0.73708	0.884;0.947;0.981;0.882;0.947;0.977	D	0.92626	0.6112	10	0.66056	D	0.02	.	15.3753	0.74598	0.0:1.0:0.0:0.0	.	7;7;7;7;7;7	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	R	7;7;7;7;7;7;7;7;7;7;26	ENSP00000448617:P7R;ENSP00000448229:P7R;ENSP00000341826:P7R;ENSP00000333504:P7R;ENSP00000448117:P7R;ENSP00000447260:P7R;ENSP00000447782:P26R	ENSP00000333504:P7R	P	+	2	0	HNRNPA1	52961441	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.391000	0.66266	2.407000	0.81776	0.491000	0.48974	CCT		0.483	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		24	44	0	0	0	0.00333	0	24	44				
NCKAP1L	3071	broad.mit.edu	37	12	54912725	54912725	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:54912725C>T	ENST00000293373.6	+	15	1527	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S433L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	483					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.S483L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTGAATTCTCAGGATTGAGG	0.388																																							uc001sgc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1447-1449)TCA>TTA		NCK-associated protein 1-like							123.0	129.0	127.0					12																	54912725		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54912725C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1448C>T	12.37:g.54912725C>T	ENSP00000293373:p.Ser483Leu					NCKAP1L_uc010sox.1_Missense_Mutation_p.S25L|NCKAP1L_uc010soy.1_Missense_Mutation_p.S433L	p.S483L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			15	1527	+			483					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1448C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519177	0.64634	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.33654	1.4;1.4	5.94	5.05	0.67936	.	0.276875	0.39475	N	0.001355	T	0.24084	0.0583	N	0.24115	0.695	0.34549	D	0.711116	B	0.02656	0.0	B	0.08055	0.003	T	0.21690	-1.0238	10	0.54805	T	0.06	-3.7676	8.4081	0.32627	0.0:0.7632:0.1555:0.0814	.	483	P55160	NCKPL_HUMAN	L	483;433	ENSP00000293373:S483L;ENSP00000445596:S433L	ENSP00000293373:S483L	S	+	2	0	NCKAP1L	53198992	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.929000	0.28844	1.531000	0.49152	0.561000	0.74099	TCA		0.388	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		7	38	0	0	0	0.004482	0	7	38				
OR9K2	441639	broad.mit.edu	37	12	55523797	55523797	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55523797C>A	ENST00000305377.5	+	1	333	c.245C>A	c.(244-246)aCa>aAa	p.T82K		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T82K(2)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CGGCTGAACACACCAATGTAT	0.388																																							uc010spe.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(244-246)ACA>AAA		olfactory receptor, family 9, subfamily K,							218.0	212.0	214.0					12																	55523797		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55523797C>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.245C>A	12.37:g.55523797C>A	ENSP00000307598:p.Thr82Lys						p.T82K	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	245	+			82			Helical; Name=2; (Potential).		B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.245C>A	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581505	0.65992	.	.	ENSG00000170605	ENST00000305377	T	0.00995	5.46	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.05044	0.0135	M	0.67700	2.07	0.39101	D	0.961292	D	0.62365	0.991	D	0.69307	0.963	T	0.27262	-1.0079	10	0.66056	D	0.02	-13.1251	18.4253	0.90607	0.0:1.0:0.0:0.0	.	82	Q8NGE7	OR9K2_HUMAN	K	82	ENSP00000307598:T82K	ENSP00000307598:T82K	T	+	2	0	OR9K2	53810064	0.084000	0.21492	1.000000	0.80357	0.988000	0.76386	0.964000	0.29306	2.753000	0.94483	0.650000	0.86243	ACA		0.388	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			30	86	1	0	5.60225e-13	0.009535	7.14804e-13	30	86				
OR6C2	341416	broad.mit.edu	37	12	55846499	55846499	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55846499G>C	ENST00000322678.1	+	1	502	c.502G>C	c.(502-504)Gac>Cac	p.D168H	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	168					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D168H(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CGAATTCTGTGACTCCAATGC	0.448																																							uc001sgz.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(502-504)GAC>CAC		olfactory receptor, family 6, subfamily C,							174.0	154.0	161.0					12																	55846499		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846499G>C	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.502G>C	12.37:g.55846499G>C	ENSP00000323606:p.Asp168His						p.D168H	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	502	+			168			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000322678.1	37	c.502G>C	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702495	0.30232	.	.	ENSG00000179695	ENST00000322678	T	0.36878	1.23	5.42	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.309004	0.27971	N	0.017105	T	0.36663	0.0975	L	0.33624	1.015	0.23872	N	0.9966	P	0.41159	0.74	P	0.48677	0.586	T	0.15809	-1.0424	10	0.56958	D	0.05	.	11.0175	0.47698	0.1522:0.0:0.8478:0.0	.	168	Q9NZP2	OR6C2_HUMAN	H	168	ENSP00000323606:D168H	ENSP00000323606:D168H	D	+	1	0	OR6C2	54132766	0.427000	0.25514	0.803000	0.32268	0.093000	0.18481	0.692000	0.25482	0.858000	0.35431	0.609000	0.83330	GAC		0.448	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		15	28	0	0	0	0.003163	0	15	28				
SUOX	6821	broad.mit.edu	37	12	56397693	56397693	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56397693G>A	ENST00000394109.3	+	3	1244	c.520G>A	c.(520-522)Gac>Aac	p.D174N	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.D174N|SUOX_ENST00000394115.2_Missense_Mutation_p.D174N|SUOX_ENST00000548274.1_Missense_Mutation_p.D174N|SUOX_ENST00000356124.4_Missense_Mutation_p.D174N			P51687	SUOX_HUMAN	sulfite oxidase	174	Hinge. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.D174N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGAGACCTCTGACCCTTATGC	0.547																																							uc001six.2		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CD052509	SUOX	D		c.(520-522)GAC>AAC		sulfite oxidase precursor							77.0	74.0	75.0					12																	56397693		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397693G>A	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.520G>A	12.37:g.56397693G>A	ENSP00000377668:p.Asp174Asn					SUOX_uc001siy.2_Missense_Mutation_p.D174N|SUOX_uc001siz.2_Missense_Mutation_p.D174N|SUOX_uc001sja.2_Missense_Mutation_p.D174N	p.D174N	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		6	846	+			174			Hinge (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.520G>A	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946384	0.53079	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4	4.59	3.69	0.42338	Oxidoreductase, molybdopterin-binding domain (1);Cytochrome b5 (1);	0.050386	0.85682	N	0.000000	D	0.91938	0.7447	M	0.73319	2.225	0.58432	D	0.999995	B	0.13145	0.007	B	0.20184	0.028	D	0.90207	0.4261	10	0.52906	T	0.07	-3.7279	12.8721	0.57970	0.0831:0.0:0.9169:0.0	.	174	P51687	SUOX_HUMAN	N	174	ENSP00000348440:D174N;ENSP00000266971:D174N;ENSP00000377674:D174N;ENSP00000450245:D174N;ENSP00000377668:D174N	ENSP00000266971:D174N	D	+	1	0	SUOX	54683960	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.884000	0.75600	1.512000	0.48834	0.591000	0.81541	GAC		0.547	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		8	61	0	0	0	0.00308	0	8	61				
NABP2	79035	broad.mit.edu	37	12	56619478	56619478	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56619478G>C	ENST00000380198.2	+	3	787	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	NABP2_ENST00000267023.4_Splice_Site_p.E97Q|NABP2_ENST00000341463.5_Splice_Site_p.E97Q			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	97					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)	p.E97Q(1)									GAAGATTGGAGAGTAAGTGCT	0.488																																							uc001ski.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)GAA>CAA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	oligonucleotide/oligosaccharide-binding fold							154.0	145.0	148.0					12																	56619478		2203	4300	6503	SO:0001630	splice_region_variant	79035				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding	g.chr12:56619478G>C	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.290+1G>C	12.37:g.56619478G>C						OBFC2B_uc001skk.2_Missense_Mutation_p.E122Q|OBFC2B_uc001skj.2_Missense_Mutation_p.E113Q	p.E97Q	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN			4	413	+			97					A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.289G>C	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501297	0.85176	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	3.94	3.94	0.45596	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000005	D	0.97176	0.9077	M	0.91300	3.195	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	D	0.98005	1.0362	10	0.72032	D	0.01	-7.0056	15.3368	0.74263	0.0:0.0:1.0:0.0	.	97;97;97	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	Q	97	ENSP00000413902:E97Q;ENSP00000408616:E97Q;ENSP00000267023:E97Q;ENSP00000369545:E97Q;ENSP00000368862:E97Q	ENSP00000267023:E97Q	E	+	1	0	OBFC2B	54905745	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.318000	0.96334	2.216000	0.71823	0.442000	0.29010	GAA		0.488	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068	Missense_Mutation	20	110	0	0	0	0.014323	0	20	110				
ANKRD52	283373	broad.mit.edu	37	12	56647906	56647906	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:56647906T>A	ENST00000267116.7	-	8	972	c.851A>T	c.(850-852)aAt>aTt	p.N284I		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	284								p.N284I(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GAGAGCGCCATTGGTGGAGAC	0.552																																							uc001skm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(850-852)AAT>ATT		ankyrin repeat domain 52							80.0	92.0	88.0					12																	56647906		2063	4205	6268	SO:0001583	missense	283373						protein binding	g.chr12:56647906T>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.851A>T	12.37:g.56647906T>A	ENSP00000267116:p.Asn284Ile					ANKRD52_uc001skn.1_RNA	p.N284I	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			8	941	-			284			ANK 9.		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.851A>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692096	0.88735	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.66638	-0.22	4.59	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.051395	0.85682	D	0.000000	T	0.76062	0.3935	M	0.89030	3	0.80722	D	1	P	0.44044	0.825	P	0.46208	0.507	T	0.82061	-0.0644	10	0.87932	D	0	.	13.394	0.60840	0.0:0.0:0.0:1.0	.	284	Q8NB46	ANR52_HUMAN	I	284	ENSP00000267116:N284I	ENSP00000267116:N284I	N	-	2	0	ANKRD52	54934173	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.868000	0.87116	2.061000	0.61500	0.482000	0.46254	AAT		0.552	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		15	82	0	0	0	0.003163	0	15	82				
RDH16	8608	broad.mit.edu	37	12	57346020	57346020	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:57346020T>A	ENST00000398138.3	-	4	1603	c.747A>T	c.(745-747)tcA>tcT	p.S249S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	249					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.S249S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TTTGTTCAGCTGATTTCTTAT	0.468																																					GBM(179;741 2921 43105 45298)	GBM(179;741 2921 43105 45298)	uc001smi.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(745-747)TCA>TCT		retinol dehydrogenase 16							66.0	73.0	71.0					12																	57346020		2070	4205	6275	SO:0001819	synonymous_variant	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57346020T>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.747A>T	12.37:g.57346020T>A						RDH16_uc009zpa.2_Silent_p.S104S	p.S249S	NM_003708	NP_003699	O75452	RDH16_HUMAN			4	919	-			249			Cytoplasmic (Potential).		Q9UNV2	Silent	SNP	ENST00000398138.3	37	c.747A>T	CCDS41797.1																																																																																				0.468	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		13	27	0	0	0	0.013537	0	13	27				
AVPR1A	552	broad.mit.edu	37	12	63543950	63543950	+	Missense_Mutation	SNP	C	C	T	rs546786206		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:63543950C>T	ENST00000299178.2	-	1	772	c.667G>A	c.(667-669)Ggc>Agc	p.G223S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	223					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.G223S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ACAAAGATGCCGCCCGTCATC	0.617																																							uc001sro.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GGC>AGC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						63.0	66.0	65.0					12																	63543950		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543950C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.667G>A	12.37:g.63543950C>T	ENSP00000299178:p.Gly223Ser						p.G223S	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2641	-			223			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.667G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	9.044	0.990523	0.18966	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.36699	1.24;1.24	5.29	-0.0402	0.13872	GPCR, rhodopsin-like superfamily (1);	0.256059	0.46442	N	0.000299	T	0.13072	0.0317	N	0.05031	-0.125	0.36680	D	0.879	B	0.11235	0.004	B	0.14578	0.011	T	0.13308	-1.0514	9	.	.	.	-15.3032	4.5946	0.12323	0.1421:0.4544:0.0:0.4035	.	223	P37288	V1AR_HUMAN	S	4;223	ENSP00000449822:G4S;ENSP00000299178:G223S	.	G	-	1	0	AVPR1A	61830217	0.000000	0.05858	0.043000	0.18650	0.914000	0.54420	-0.604000	0.05667	-0.066000	0.12998	0.455000	0.32223	GGC		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			25	135	0	0	0	0.003954	0	25	135				
SRGAP1	57522	broad.mit.edu	37	12	64536211	64536211	+	Missense_Mutation	SNP	C	C	T	rs549866334		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:64536211C>T	ENST00000355086.3	+	22	3541	c.3017C>T	c.(3016-3018)aCg>aTg	p.T1006M	SRGAP1_ENST00000357825.3_Missense_Mutation_p.T983M|SRGAP1_ENST00000543397.1_Missense_Mutation_p.T943M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1006					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.T1006M(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCCACTTCCACGGAATCTCTC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19221	0.0		0.0	False		,,,				2504	0.0						uc010ssp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(3016-3018)ACG>ATG		SLIT-ROBO Rho GTPase activating protein 1							127.0	96.0	107.0					12																	64536211		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536211C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3017C>T	12.37:g.64536211C>T	ENSP00000347198:p.Thr1006Met					SRGAP1_uc001srv.2_Missense_Mutation_p.T943M	p.T1006M	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3073	+			1006					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3017C>T	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070152	0.36566	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.31510	1.49;1.49;1.49	6.04	5.15	0.70609	.	0.000000	0.35936	U	0.002892	T	0.26122	0.0637	N	0.22421	0.69	0.41524	D	0.988412	P;P	0.48503	0.911;0.843	B;P	0.44990	0.439;0.466	T	0.02596	-1.1136	9	.	.	.	.	15.2111	0.73225	0.0:0.9328:0.0:0.0672	.	1006;943	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	M	1006;983;943	ENSP00000347198:T1006M;ENSP00000350480:T983M;ENSP00000437948:T943M	.	T	+	2	0	SRGAP1	62822478	0.578000	0.26717	0.982000	0.44146	0.194000	0.23727	1.182000	0.32029	1.557000	0.49525	0.563000	0.77884	ACG		0.552	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			18	37	0	0	0	0.00499	0	18	37				
PTPRR	5801	broad.mit.edu	37	12	71094993	71094993	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:71094993G>A	ENST00000283228.2	-	7	1570	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	PTPRR_ENST00000378778.1_Missense_Mutation_p.S167L|PTPRR_ENST00000549308.1_Missense_Mutation_p.S128L|PTPRR_ENST00000440835.2_Missense_Mutation_p.S128L|PTPRR_ENST00000342084.4_Missense_Mutation_p.S261L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	373					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S373L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCGGCTGGCTGACTGCAGATA	0.458																																							uc001swi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1117-1119)TCA>TTA		protein tyrosine phosphatase, receptor type, R							171.0	152.0	158.0					12																	71094993		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71094993G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1118C>T	12.37:g.71094993G>A	ENSP00000283228:p.Ser373Leu					PTPRR_uc001swh.1_Missense_Mutation_p.S128L|PTPRR_uc009zrs.2_Missense_Mutation_p.S222L|PTPRR_uc010stq.1_Missense_Mutation_p.S261L|PTPRR_uc010str.1_Missense_Mutation_p.S222L	p.S373L	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1534	-			373			Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1118C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994567	0.93167	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	5.6	5.6	0.85130	.	0.166100	0.28659	N	0.014567	T	0.44456	0.1294	M	0.69823	2.125	0.58432	D	0.999999	P;P;P;P	0.50369	0.901;0.809;0.934;0.82	B;B;P;B	0.46237	0.241;0.283;0.508;0.147	T	0.46091	-0.9216	10	0.66056	D	0.02	-12.6228	19.9756	0.97304	0.0:0.0:1.0:0.0	.	222;261;167;373	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	L	128;373;167;261;128;128	ENSP00000391750:S128L;ENSP00000283228:S373L;ENSP00000368054:S167L;ENSP00000339605:S261L;ENSP00000446943:S128L;ENSP00000449616:S128L	ENSP00000283228:S373L	S	-	2	0	PTPRR	69381260	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.733000	0.74796	2.793000	0.96121	0.563000	0.77884	TCA		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		10	46	0	0	0	0.006214	0	10	46				
LGR5	8549	broad.mit.edu	37	12	71977541	71977541	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:71977541G>A	ENST00000266674.5	+	18	2062	c.1751G>A	c.(1750-1752)aGa>aAa	p.R584K	LGR5_ENST00000536515.1_Missense_Mutation_p.R512K|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.R560K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	584					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.R584K(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACAGTTTTCAGATCCCCTCTG	0.493																																							uc001swl.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(1750-1752)AGA>AAA		leucine-rich repeat-containing G protein-coupled							188.0	164.0	172.0					12																	71977541		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977541G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1751G>A	12.37:g.71977541G>A	ENSP00000266674:p.Arg584Lys					LGR5_uc001swm.2_Missense_Mutation_p.R560K|LGR5_uc001swn.1_RNA	p.R584K	NM_003667	NP_003658	O75473	LGR5_HUMAN			18	1799	+			584			Cytoplasmic (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1751G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969997	0.34754	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.85484	-1.99;-1.99;-1.99	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.161948	0.43416	D	0.000563	D	0.84266	0.5434	L	0.60455	1.87	0.37846	D	0.929238	B;B	0.33345	0.356;0.409	B;B	0.33121	0.133;0.158	T	0.83150	-0.0104	10	0.33940	T	0.23	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	560;584	O75473-2;O75473	.;LGR5_HUMAN	K	584;584;512;560	ENSP00000266674:R584K;ENSP00000443033:R512K;ENSP00000441035:R560K	ENSP00000266674:R584K	R	+	2	0	LGR5	70263808	1.000000	0.71417	0.053000	0.19242	0.055000	0.15305	4.342000	0.59341	2.765000	0.95021	0.655000	0.94253	AGA		0.493	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		22	104	0	0	0	0.012319	0	22	104				
TRHDE	29953	broad.mit.edu	37	12	72680629	72680629	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:72680629G>T	ENST00000261180.4	+	2	1044	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	316					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)	p.W316C(2)		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						AAGATGGATGGGTTACGGATC	0.418																																							uc001sxa.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(946-948)TGG>TGT		thyrotropin-releasing hormone degrading enzyme							164.0	154.0	157.0					12																	72680629		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680629G>T	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.948G>T	12.37:g.72680629G>T	ENSP00000261180:p.Trp316Cys						p.W316C	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			2	978	+			316			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.948G>T	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.566004|4.566004	0.86439|0.86439	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.04454	.|3.62	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23886|0.23886	0.0578|0.0578	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.00005|0.00005	-1.2539|-1.2539	5|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|316	.|Q9UKU6	.|TRHDE_HUMAN	C|C	82|316	.|ENSP00000261180:W316C	.|ENSP00000261180:W316C	G|W	+|+	1|3	0|0	TRHDE|TRHDE	70966896|70966896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.418	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		30	56	1	0	3.65163e-15	0.00632	4.77672e-15	30	56				
NAV3	89795	broad.mit.edu	37	12	78400307	78400307	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78400307A>T	ENST00000397909.2	+	8	1162	c.989A>T	c.(988-990)aAg>aTg	p.K330M	NAV3_ENST00000228327.6_Missense_Mutation_p.K330M|NAV3_ENST00000266692.7_Missense_Mutation_p.K330M|NAV3_ENST00000536525.2_Missense_Mutation_p.K330M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	330						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.K330M(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTGCCAGCAAGCCCTGGCGC	0.547										HNSCC(70;0.22)																													uc001syp.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(988-990)AAG>ATG		neuron navigator 3							58.0	61.0	60.0					12																	78400307		2085	4220	6305	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400307A>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.989A>T	12.37:g.78400307A>T	ENSP00000381007:p.Lys330Met	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.K330M	p.K330M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1162	+			330					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.989A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.326661|4.326661	0.81690|0.81690	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.41938|.	U|.	0.000783|.	T|T	0.68933|0.68933	0.3055|0.3055	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.996;0.999|.	T|T	0.67389|0.67389	-0.5683|-0.5683	10|5	0.87932|.	D|.	0|.	-16.6028|-16.6028	15.4187|15.4187	0.74995|0.74995	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	330;330|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	M|H	330|153	ENSP00000446628:K330M;ENSP00000446132:K330M;ENSP00000381007:K330M;ENSP00000228327:K330M;ENSP00000266692:K330M|.	ENSP00000228327:K330M|.	K|Q	+|+	2|3	0|2	NAV3|NAV3	76924438|76924438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	9.104000|9.104000	0.94239|0.94239	2.044000|2.044000	0.60594|0.60594	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.547	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	40	0	0	0	0.007413	0	19	40				
NAV3	89795	broad.mit.edu	37	12	78574751	78574751	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78574751C>A	ENST00000397909.2	+	30	5791	c.5618C>A	c.(5617-5619)aCc>aAc	p.T1873N	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.T1851N|NAV3_ENST00000266692.7_Missense_Mutation_p.T1674N|NAV3_ENST00000536525.2_Missense_Mutation_p.T1851N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1873	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1851N(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAAGCAGCACCTCCTCTTCA	0.448										HNSCC(70;0.22)																													uc001syp.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5617-5619)ACC>AAC		neuron navigator 3							116.0	119.0	118.0					12																	78574751		2012	4170	6182	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78574751C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5618C>A	12.37:g.78574751C>A	ENSP00000381007:p.Thr1873Asn	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.T1851N|NAV3_uc010sub.1_Missense_Mutation_p.T1330N|NAV3_uc009zsf.2_Missense_Mutation_p.T682N	p.T1873N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			30	5791	+			1873			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5618C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.59|16.59	3.164331|3.164331	0.57476|0.57476	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.28895	.|1.67;1.65;1.67;1.59;2.47	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.169973	.|0.27151	.|U	.|0.020689	T|T	0.37183|0.37183	0.0994|0.0994	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|B;B;P;B	.|0.40553	.|0.236;0.16;0.721;0.096	.|B;B;B;B	.|0.39876	.|0.128;0.11;0.312;0.053	T|T	0.13575|0.13575	-1.0504|-1.0504	5|10	.|0.62326	.|D	.|0.03	-1.5702|-1.5702	20.547|20.547	0.99278|0.99278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1851;1674;1873;1851	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	Q|N	745|1851;1873;1851;1674;465;473	.|ENSP00000446132:T1851N;ENSP00000381007:T1873N;ENSP00000228327:T1851N;ENSP00000266692:T1674N;ENSP00000448303:T473N	.|ENSP00000228327:T1851N	H|T	+|+	3|2	2|0	NAV3|NAV3	77098882|77098882	1.000000|1.000000	0.71417|0.71417	0.009000|0.009000	0.14445|0.14445	0.971000|0.971000	0.66376|0.66376	7.487000|7.487000	0.81328|0.81328	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CAC|ACC		0.448	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	19	1	0	0.00198382	0.001984	0.00206488	7	19				
SLC6A15	55117	broad.mit.edu	37	12	85285753	85285754	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:85285753_85285754TG>CT	ENST00000266682.5	-	2	687_688	c.146_147CA>AG	c.(145-147)aCA>aAG	p.T49K	SLC6A15_ENST00000450363.3_Missense_Mutation_p.T49K|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	49					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.T49K(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTCAACATCTGTATCTTTCTC	0.406																																							uc001szv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(145-147)ACA>AAG		solute carrier family 6, member 15 isoform 1																																				SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85285753_85285754TG>CT	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.146_147delinsCT	12.37:g.85285753_85285754delinsCT	ENSP00000266682:p.Thr49Lys					SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.T49K	p.T49K	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			2	639_640	-			49			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	DNP	ENST00000266682.5	37	c.146_147CA>AG	CCDS9026.1																																																																																				0.406	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		7	74	0	0	0	0.004672	0	7	74				
TMTC3	160418	broad.mit.edu	37	12	88588674	88588674	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:88588674C>T	ENST00000266712.6	+	14	2213	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	666					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.P665S(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAATGAAGAGCCACTAGATGC	0.323																																							uc001tau.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1993-1995)CCA>TCA		transmembrane and tetratricopeptide repeat							79.0	83.0	82.0					12																	88588674		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88588674C>T		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1993C>T	12.37:g.88588674C>T	ENSP00000266712:p.Pro665Ser						p.P665S	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			14	2213	+			666					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1993C>T	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028192	0.54790	.	.	ENSG00000139324	ENST00000266712	T	0.79247	-1.25	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	L	0.43923	1.385	0.80722	D	1	B	0.27316	0.175	B	0.30943	0.122	T	0.71447	-0.4590	10	0.49607	T	0.09	-13.4666	20.1133	0.97917	0.0:1.0:0.0:0.0	.	665	Q6ZXV5-2	.	S	665	ENSP00000266712:P665S	ENSP00000266712:P665S	P	+	1	0	TMTC3	87112805	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.994000	0.70623	2.762000	0.94881	0.591000	0.81541	CCA		0.323	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		3	22	0	0	0	0.004672	0	3	22				
GALNT4	8693	broad.mit.edu	37	12	89916936	89916936	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:89916936T>A	ENST00000529983.2	-	1	1647	c.1391A>T	c.(1390-1392)gAc>gTc	p.D464V	POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.D292V|POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.D461V	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	464	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D464V(1)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GGGGTTGTTGTCAGGAGAATT	0.403																																							uc001tbd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)GAC>GTC		polypeptide N-acetylgalactosaminyltransferase 4							75.0	75.0	75.0					12																	89916936		1862	4098	5960	SO:0001583	missense	8693				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89916936T>A	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1391A>T	12.37:g.89916936T>A	ENSP00000436604:p.Asp464Val					POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.D461V|GALNT4_uc010suo.1_Missense_Mutation_p.D156V	p.D464V	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN			1	1600	-			464			Ricin B-type lectin.|Lumenal (Potential).		B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.1391A>T	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656285	0.47467	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.32272	1.46;1.46;1.46	5.73	4.59	0.56863	Ricin B-related lectin (1);Ricin B lectin (3);	.	.	.	.	T	0.33177	0.0854	L	0.47016	1.485	0.80722	D	1	B;B	0.25486	0.127;0.048	B;B	0.37239	0.158;0.244	T	0.13764	-1.0497	9	0.59425	D	0.04	.	10.701	0.45926	0.0:0.0745:0.0:0.9255	.	461;464	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	V	461;292;464	ENSP00000447852:D461V;ENSP00000389686:D292V;ENSP00000436604:D464V	ENSP00000436604:D464V	D	-	2	0	GALNT4;RP11-1109F11.4	88441067	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	6.051000	0.71072	1.002000	0.39104	0.482000	0.46254	GAC		0.403	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		11	43	0	0	0	0.008291	0	11	43				
PLEKHG7	440107	broad.mit.edu	37	12	93163941	93163941	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:93163941C>T	ENST00000344636.3	+	12	1294	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	370							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F370F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TATCTTTATTCACATTGCCCG	0.318																																							uc001tcj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1108-1110)TTC>TTT		pleckstrin homology domain containing, family G							94.0	96.0	96.0					12																	93163941		2203	4299	6502	SO:0001819	synonymous_variant	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93163941C>T	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.1110C>T	12.37:g.93163941C>T							p.F370F	NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN			12	1340	+			370					B2RNR7	Silent	SNP	ENST00000344636.3	37	c.1110C>T	CCDS31873.1																																																																																				0.318	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		5	23	0	0	0	0.000602	0	5	23				
NR1H4	9971	broad.mit.edu	37	12	100934574	100934574	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100934574G>A	ENST00000551379.1	+	7	1114	c.1086G>A	c.(1084-1086)ttG>ttA	p.L362L	NR1H4_ENST00000392986.3_Silent_p.L352L|NR1H4_ENST00000549996.1_Silent_p.L301L|NR1H4_ENST00000188403.7_Silent_p.L358L|NR1H4_ENST00000548884.1_Silent_p.L348L			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	362	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L362L(2)|p.L348L(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	CTGACCTATTGGAAGAAAGAA	0.423																																							uc001tht.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|lung(1)|skin(1)	3						c.(1084-1086)TTG>TTA		nuclear receptor subfamily 1, group H, member 4							121.0	118.0	119.0					12																	100934574		2203	4300	6503	SO:0001819	synonymous_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100934574G>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1086G>A	12.37:g.100934574G>A						NR1H4_uc001thp.1_Silent_p.L348L|NR1H4_uc001thq.1_Silent_p.L352L|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.L352L|NR1H4_uc010svk.1_Silent_p.L301L|NR1H4_uc001ths.1_Silent_p.L358L	p.L362L	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			7	1114	+			362			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	ENST00000551379.1	37	c.1086G>A	CCDS55876.1																																																																																				0.423	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		14	33	0	0	0	0.001855	0	14	33				
NR1H4	9971	broad.mit.edu	37	12	100957082	100957082	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:100957082C>T	ENST00000551379.1	+	9	1304	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F	NR1H4_ENST00000392986.3_Missense_Mutation_p.L416F|NR1H4_ENST00000549996.1_Missense_Mutation_p.L365F|NR1H4_ENST00000188403.7_Missense_Mutation_p.L422F|NR1H4_ENST00000548884.1_Missense_Mutation_p.L412F			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	426	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L412F(2)|p.L426F(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GGAGCCACTTCTTGATGTGCT	0.383																																							uc001tht.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|lung(1)|skin(1)	3						c.(1276-1278)CTT>TTT		nuclear receptor subfamily 1, group H, member 4							121.0	103.0	109.0					12																	100957082		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100957082C>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1276C>T	12.37:g.100957082C>T	ENSP00000447149:p.Leu426Phe					NR1H4_uc001thp.1_Missense_Mutation_p.L412F|NR1H4_uc001thq.1_Missense_Mutation_p.L416F|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.L416F|NR1H4_uc010svk.1_Missense_Mutation_p.L365F|NR1H4_uc001ths.1_Missense_Mutation_p.L422F	p.L426F	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			9	1304	+			426			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.1276C>T	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835867	0.71373	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.59	5.59	0.84812	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.059242	0.64402	D	0.000001	D	0.98495	0.9498	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.997	D;D;D;P;P	0.78314	0.942;0.991;0.92;0.906;0.867	D	0.99215	1.0877	10	0.87932	D	0	.	19.96	0.97242	0.0:1.0:0.0:0.0	.	365;426;422;416;412	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	F	412;416;365;426;422	ENSP00000448506:L412F;ENSP00000376712:L416F;ENSP00000448978:L365F;ENSP00000447149:L426F;ENSP00000188403:L422F	ENSP00000188403:L422F	L	+	1	0	NR1H4	99481213	1.000000	0.71417	0.933000	0.37362	0.530000	0.34684	4.691000	0.61738	2.793000	0.96121	0.561000	0.74099	CTT		0.383	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		19	23	0	0	0	0.007413	0	19	23				
GAS2L3	283431	broad.mit.edu	37	12	101018004	101018004	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:101018004T>C	ENST00000539410.1	+	9	1807	c.1421T>C	c.(1420-1422)tTg>tCg	p.L474S	GAS2L3_ENST00000547754.1_Missense_Mutation_p.L474S|GAS2L3_ENST00000537247.1_Missense_Mutation_p.L370S|GAS2L3_ENST00000266754.5_Missense_Mutation_p.L474S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	474					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.L474S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAAGTATTTGAAACATAAT	0.403																																							uc001thu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1420-1422)TTG>TCG		growth arrest-specific 2 like 3							62.0	66.0	65.0					12																	101018004		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101018004T>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1421T>C	12.37:g.101018004T>C	ENSP00000439672:p.Leu474Ser					GAS2L3_uc009zty.2_Missense_Mutation_p.L474S|GAS2L3_uc001thv.2_Missense_Mutation_p.L370S	p.L474S	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			10	1647	+			474					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1421T>C	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	T	8.313	0.822654	0.16678	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.23950	1.92;1.92;1.88;1.92	5.74	4.61	0.57282	.	0.421197	0.19444	N	0.114115	T	0.18841	0.0452	L	0.44542	1.39	0.25870	N	0.983728	B	0.12630	0.006	B	0.11329	0.006	T	0.13629	-1.0502	10	0.18276	T	0.48	-3.6536	6.9797	0.24696	0.0:0.1668:0.0:0.8332	.	474	Q86XJ1	GA2L3_HUMAN	S	474;474;370;474	ENSP00000266754:L474S;ENSP00000448955:L474S;ENSP00000442406:L370S;ENSP00000439672:L474S	ENSP00000266754:L474S	L	+	2	0	GAS2L3	99542135	0.515000	0.26210	0.963000	0.40424	0.305000	0.27757	1.894000	0.39768	2.185000	0.69588	0.528000	0.53228	TTG		0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		5	38	0	0	0	0.000602	0	5	38				
HSP90B1	7184	broad.mit.edu	37	12	104340715	104340715	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:104340715C>G	ENST00000299767.5	+	16	2440	c.2258C>G	c.(2257-2259)gCa>gGa	p.A753G		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	753					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GACCCTGATGCAAAGGTTTGT	0.453																																							uc001tkb.1		NA																	0				ovary(2)|skin(1)	3						c.(2257-2259)GCA>GGA		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						53.0	53.0	53.0					12																	104340715		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104340715C>G	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2258C>G	12.37:g.104340715C>G	ENSP00000299767:p.Ala753Gly					HSP90B1_uc010swg.1_Missense_Mutation_p.A418G|HSP90B1_uc009zui.1_Intron	p.A753G	NM_003299	NP_003290	P14625	ENPL_HUMAN			16	2363	+			753					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.2258C>G	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.49|17.49	3.401976|3.401976	0.62288|0.62288	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.10573|.	2.86|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.050619|.	0.85682|.	D|.	0.000000|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.73372|0.73372	2.23|2.23	0.80722|0.80722	D|D	1|1	B|.	0.31435|.	0.323|.	B|.	0.30316|.	0.114|.	T|T	0.73065|0.73065	-0.4100|-0.4100	10|5	0.62326|.	D|.	0.03|.	.|.	16.1827|16.1827	0.81921|0.81921	0.1337:0.8662:0.0:0.0|0.1337:0.8662:0.0:0.0	.|.	753|.	P14625|.	ENPL_HUMAN|.	G|E	753;503|104	ENSP00000299767:A753G|.	ENSP00000299767:A753G|.	A|Q	+|+	2|1	0|0	HSP90B1|HSP90B1	102864845|102864845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.987000|2.987000	0.49378|0.49378	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.453	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		5	25	0	0	0	0.001168	0	5	25				
CHST11	50515	broad.mit.edu	37	12	105150924	105150924	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:105150924C>T	ENST00000303694.5	+	3	841	c.402C>T	c.(400-402)ctC>ctT	p.L134L	CHST11_ENST00000549260.1_Silent_p.L129L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	134					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.L134L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGAAGCGGCTCATGATGGTCC	0.612																																							uc001tkx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)CTC>CTT		carbohydrate sulfotransferase 11							66.0	64.0	65.0					12																	105150924		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150924C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.402C>T	12.37:g.105150924C>T						CHST11_uc001tky.2_Silent_p.L129L|uc001tkz.2_5'Flank	p.L134L	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	693	+			134			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.402C>T	CCDS9099.1																																																																																				0.612	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		6	68	0	0	0	0.001168	0	6	68				
KIAA1033	23325	broad.mit.edu	37	12	105515907	105515907	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:105515907C>G	ENST00000332180.5	+	10	764	c.677C>G	c.(676-678)tCt>tGt	p.S226C		NM_015275.1	NP_056090.1			KIAA1033									p.S226C(2)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTACTGAAATCTGTCCATCAC	0.289																																							uc001tld.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)|central_nervous_system(1)	2						c.(676-678)TCT>TGT		hypothetical protein LOC23325							61.0	56.0	58.0					12																	105515907		1784	4061	5845	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105515907C>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.677C>G	12.37:g.105515907C>G	ENSP00000328062:p.Ser226Cys					KIAA1033_uc010swr.1_Missense_Mutation_p.S226C|KIAA1033_uc010sws.1_Missense_Mutation_p.S38C	p.S226C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			10	764	+			226						Missense_Mutation	SNP	ENST00000332180.5	37	c.677C>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641005	0.87859	.	.	ENSG00000136051	ENST00000332180	T	0.35789	1.29	5.72	5.72	0.89469	.	0.100244	0.64402	D	0.000001	T	0.64438	0.2598	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.65508	-0.6151	10	0.54805	T	0.06	.	19.9404	0.97159	0.0:1.0:0.0:0.0	.	226;226	B7ZKT9;Q2M389	.;WASH7_HUMAN	C	226	ENSP00000328062:S226C	ENSP00000328062:S226C	S	+	2	0	KIAA1033	104040037	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.518000	0.81795	2.716000	0.92895	0.650000	0.86243	TCT		0.289	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		11	19	0	0	0	0.008291	0	11	19				
POLR3B	55703	broad.mit.edu	37	12	106848433	106848433	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:106848433A>G	ENST00000228347.4	+	20	2459	c.2237A>G	c.(2236-2238)tAt>tGt	p.Y746C	POLR3B_ENST00000539066.1_Missense_Mutation_p.Y688C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	746					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.Y746C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGATGAGCTATAGTGGCTAT	0.373																																							uc001tlp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2236-2238)TAT>TGT		DNA-directed RNA polymerase III B isoform 1							107.0	106.0	106.0					12																	106848433		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106848433A>G	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2237A>G	12.37:g.106848433A>G	ENSP00000228347:p.Tyr746Cys					POLR3B_uc001tlq.2_Missense_Mutation_p.Y688C	p.Y746C	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			20	2459	+			746					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2237A>G	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356301	0.82243	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	D;D	0.84370	-1.84;-1.84	5.88	5.88	0.94601	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97228	0.9882	10	0.87932	D	0	-18.7266	16.2997	0.82804	1.0:0.0:0.0:0.0	.	746	Q9NW08	RPC2_HUMAN	C	746;688	ENSP00000228347:Y746C;ENSP00000445721:Y688C	ENSP00000228347:Y746C	Y	+	2	0	POLR3B	105372563	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.270000	0.95690	2.250000	0.74265	0.528000	0.53228	TAT		0.373	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		9	18	0	0	0	0.006214	0	9	18				
PRDM4	11108	broad.mit.edu	37	12	108134944	108134944	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:108134944T>C	ENST00000228437.5	-	10	2162	c.1703A>G	c.(1702-1704)cAt>cGt	p.H568R	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	568					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)	p.H568R(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGATGGTTATGGATGTGGCT	0.488																																							uc001tmp.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1702-1704)CAT>CGT		PR domain containing 4							156.0	136.0	143.0					12																	108134944		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108134944T>C	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1703A>G	12.37:g.108134944T>C	ENSP00000228437:p.His568Arg					PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_RNA	p.H568R	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			10	2140	-			568					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1703A>G	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147821	0.37923	.	.	ENSG00000110851	ENST00000228437	T	0.09538	2.97	6.03	6.03	0.97812	.	0.339925	0.38837	N	0.001551	T	0.08492	0.0211	N	0.22421	0.69	0.43868	D	0.996477	B	0.25105	0.118	B	0.19666	0.026	T	0.24835	-1.0149	10	0.38643	T	0.18	-1.2237	12.4101	0.55461	0.0:0.0:0.14:0.86	.	568	Q9UKN5	PRDM4_HUMAN	R	568	ENSP00000228437:H568R	ENSP00000228437:H568R	H	-	2	0	PRDM4	106659074	1.000000	0.71417	0.991000	0.47740	0.957000	0.61999	3.678000	0.54627	2.308000	0.77769	0.533000	0.62120	CAT		0.488	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		15	85	0	0	0	0.004007	0	15	85				
CORO1C	23603	broad.mit.edu	37	12	109055932	109055932	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:109055932T>C	ENST00000261401.3	-	4	493	c.321A>G	c.(319-321)gtA>gtG	p.V107V	CORO1C_ENST00000541050.1_Silent_p.V107V|CORO1C_ENST00000420959.2_Silent_p.V160V|CORO1C_ENST00000421578.2_Silent_p.V2V|CORO1C_ENST00000549772.1_Silent_p.V113V|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	107					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.V107V(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGATCTGCCATACCTGTTGGA	0.438																																							uc001tnj.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)	3						c.(319-321)GTA>GTG		coronin, actin binding protein, 1C isoform 1							90.0	73.0	78.0					12																	109055932		2203	4300	6503	SO:0001819	synonymous_variant	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109055932T>C	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.321A>G	12.37:g.109055932T>C						CORO1C_uc009zva.2_Silent_p.V160V|CORO1C_uc010sxf.1_Silent_p.V107V	p.V107V	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			4	417	-			107			WD 1.		A7MAP0|A7MAP1|B3KU12|Q9NSK5	Silent	SNP	ENST00000261401.3	37	c.321A>G	CCDS9120.1																																																																																				0.438	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		10	20	0	0	0	0.006214	0	10	20				
PPTC7	160760	broad.mit.edu	37	12	110977723	110977723	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:110977723G>A	ENST00000354300.3	-	4	918	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	210	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.F210F(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GCTGGACATCGAAAGACGTGC	0.453																																							uc001trh.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)TTC>TTT		T-cell activation protein phosphatase 2C							91.0	84.0	86.0					12																	110977723		2203	4300	6503	SO:0001819	synonymous_variant	160760						metal ion binding|phosphoprotein phosphatase activity	g.chr12:110977723G>A	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.630C>T	12.37:g.110977723G>A							p.F210F	NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN			4	858	-			210			PP2C-like.		B3KWC5|Q68DZ7|Q6UY82	Silent	SNP	ENST00000354300.3	37	c.630C>T	CCDS9149.1																																																																																				0.453	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		3	31	0	0	0	0.004672	0	3	31				
RBM19	9904	broad.mit.edu	37	12	114384250	114384250	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:114384250T>C	ENST00000545145.2	-	12	1516	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V	RBM19_ENST00000261741.5_Missense_Mutation_p.I480V|RBM19_ENST00000392561.3_Missense_Mutation_p.I480V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	480	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I480V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCTTCTTGATGGTAGATGGT	0.562																																							uc009zwi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1438-1440)ATC>GTC		RNA binding motif protein 19							130.0	101.0	111.0					12																	114384250		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114384250T>C	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1438A>G	12.37:g.114384250T>C	ENSP00000442053:p.Ile480Val					RBM19_uc001tvn.3_Missense_Mutation_p.I480V|RBM19_uc001tvm.2_Missense_Mutation_p.I480V	p.I480V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			12	1582	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		480			RRM 3.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1438A>G	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434536	0.25813	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05649	3.41;3.41;3.41	4.6	4.6	0.57074	RNA recognition motif domain (1);	0.401741	0.26955	N	0.021660	T	0.02688	0.0081	N	0.02539	-0.55	0.36231	D	0.852672	B	0.15141	0.012	B	0.13407	0.009	T	0.44682	-0.9312	10	0.30078	T	0.28	-29.2663	8.7025	0.34334	0.0:0.086:0.0:0.914	.	480	Q9Y4C8	RBM19_HUMAN	V	480	ENSP00000442053:I480V;ENSP00000376344:I480V;ENSP00000261741:I480V	ENSP00000261741:I480V	I	-	1	0	RBM19	112868633	0.680000	0.27605	1.000000	0.80357	0.927000	0.56198	0.849000	0.27723	1.721000	0.51461	0.533000	0.62120	ATC		0.562	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		8	32	0	0	0	0.004482	0	8	32				
NOS1	4842	broad.mit.edu	37	12	117660523	117660523	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:117660523T>A	ENST00000338101.4	-	26	4078	c.4074A>T	c.(4072-4074)ccA>ccT	p.P1358P	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.P1324P			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.P1324P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGGTTACCTTTGGTTTGTCTG	0.552																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|pancreas(1)	7						c.(3970-3972)CCA>CCT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						129.0	135.0	133.0					12																	117660523		1959	4148	6107	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117660523T>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4074A>T	12.37:g.117660523T>A							p.P1324P	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	26	4658	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1324						Silent	SNP	ENST00000338101.4	37	c.3972A>T	CCDS55890.1																																																																																				0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			73	117	0	0	0	0.01441	0	73	117				
CABP1	9478	broad.mit.edu	37	12	121098917	121098917	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:121098917G>A	ENST00000316803.3	+	5	1117	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	CABP1_ENST00000288616.3_Missense_Mutation_p.R185Q|CABP1_ENST00000351200.2_Missense_Mutation_p.R125Q|CABP1_ENST00000453000.1_Missense_Mutation_p.R264Q	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	328	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)	p.R185Q(2)|p.R328Q(2)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTGAGCTGCGAGAGGCTATG	0.542																																							uc001tyu.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(982-984)CGA>CAA		calcium binding protein 1 isoform 3							102.0	95.0	97.0					12																	121098917		2203	4300	6503	SO:0001583	missense	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098917G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.983G>A	12.37:g.121098917G>A	ENSP00000317310:p.Arg328Gln					CABP1_uc001tyv.2_Missense_Mutation_p.R185Q|CABP1_uc001tyw.2_Missense_Mutation_p.R125Q|CABP1_uc001tyx.2_Missense_Mutation_p.R170Q	p.R328Q	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN			5	1050	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		328			EF-hand 3.		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.983G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828329	0.90955	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.13	5.13	0.70059	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	L	0.33792	1.035	0.80722	D	1	D;P;D;D	0.63880	0.993;0.601;0.991;0.966	P;B;B;B	0.50590	0.645;0.16;0.383;0.337	T	0.00822	-1.1552	10	0.87932	D	0	-5.7101	18.5973	0.91234	0.0:0.0:1.0:0.0	.	264;125;185;328	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	Q	328;185;125;264	ENSP00000317310:R328Q;ENSP00000288616:R185Q;ENSP00000288615:R125Q;ENSP00000398959:R264Q	ENSP00000288616:R185Q	R	+	2	0	CABP1	119583300	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.271000	0.78506	2.389000	0.81357	0.655000	0.94253	CGA		0.542	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		13	44	0	0	0	0.001855	0	13	44				
WDR66	144406	broad.mit.edu	37	12	122396299	122396299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:122396299C>T	ENST00000288912.4	+	12	2706	c.1852C>T	c.(1852-1854)Caa>Taa	p.Q618*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.Q618*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	618							calcium ion binding (GO:0005509)	p.Q618*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACCCATATCAACCCCTCAT	0.463																																					Esophageal Squamous(85;849 1794 49757 52143)	Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1852-1854)CAA>TAA		WD repeat domain 66							182.0	180.0	181.0					12																	122396299		1920	4137	6057	SO:0001587	stop_gained	144406						calcium ion binding	g.chr12:122396299C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1852C>T	12.37:g.122396299C>T	ENSP00000288912:p.Gln618*						p.Q618*	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	12	1994	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		618			WD 6.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Nonsense_Mutation	SNP	ENST00000288912.4	37	c.1852C>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	37	6.027428	0.97216	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	5.27	4.29	0.51040	.	0.233607	0.44688	D	0.000426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	8.879	0.35363	0.2066:0.5749:0.2185:0.0	.	.	.	.	X	618	.	ENSP00000288912:Q618X	Q	+	1	0	WDR66	120880682	0.929000	0.31497	0.818000	0.32626	0.849000	0.48306	1.885000	0.39678	2.434000	0.82447	0.561000	0.74099	CAA		0.463	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		25	121	0	0	0	0.00278	0	25	121				
UBC	7316	broad.mit.edu	37	12	125397990	125397990	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:125397990C>T	ENST00000538617.1	-	3	644	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Intron|UBC_ENST00000536769.1_Missense_Mutation_p.E110K|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.E110K			P0CG48	UBC_HUMAN	ubiquitin C	490	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.E110K(1)|p.I106fs*10(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAATGCCTTCCTTGTCCTGG	0.522																																							uc001ugs.3		NA																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|breast(1)	ovary(2)	2						c.(328-330)GAA>AAA		ubiquitin C							273.0	244.0	254.0					12																	125397990		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397990C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.328G>A	12.37:g.125397990C>T	ENSP00000443053:p.Glu110Lys					UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.E110K|UBC_uc001ugt.2_Missense_Mutation_p.E110K|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR	p.E110K	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	776	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		110			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000538617.1	37	c.328G>A		.	.	.	.	.	.	.	.	.	.	-	17.18	3.324873	0.60634	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000339647;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700;ENST00000535859	T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	4.12	4.12	0.48240	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.64402	U	0.000016	D	0.85927	0.5811	M	0.80746	2.51	0.80722	D	1	P;P;P	0.47253	0.737;0.691;0.892	D;P;D	0.65684	0.937;0.896;0.937	D	0.88370	0.2994	10	0.87932	D	0	.	15.327	0.74172	0.0:1.0:0.0:0.0	.	199;110;110	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	K	110	ENSP00000441543:E110K;ENSP00000443053:E110K;ENSP00000344818:E110K;ENSP00000442800:E110K;ENSP00000445337:E110K;ENSP00000439492:E110K;ENSP00000438289:E110K;ENSP00000441238:E110K;ENSP00000437452:E110K	ENSP00000344818:E110K	E	-	1	0	UBC	123963943	1.000000	0.71417	0.988000	0.46212	0.710000	0.40934	3.151000	0.50670	2.011000	0.59026	0.650000	0.86243	GAA		0.522	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		32	222	0	0	0	0.013726	0	32	222				
DHX37	57647	broad.mit.edu	37	12	125453184	125453184	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:125453184C>A	ENST00000308736.2	-	10	1402	c.1304G>T	c.(1303-1305)aGg>aTg	p.R435M	DHX37_ENST00000544745.1_Missense_Mutation_p.R222M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	435							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R435M(2)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGGGAACTGCCTGGATTCCAC	0.602																																							uc001ugy.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1303-1305)AGG>ATG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							84.0	82.0	83.0					12																	125453184		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125453184C>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1304G>T	12.37:g.125453184C>A	ENSP00000311135:p.Arg435Met						p.R435M	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	10	1403	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		435					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.1304G>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104600	0.77096	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.22134	1.97;1.97	4.6	4.6	0.57074	DEAD-like helicase (1);	0.187046	0.44902	D	0.000413	T	0.60366	0.2263	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.76211	-0.3042	10	0.87932	D	0	-21.5838	17.3773	0.87396	0.0:1.0:0.0:0.0	.	435	Q8IY37	DHX37_HUMAN	M	435;222	ENSP00000311135:R435M;ENSP00000439009:R222M	ENSP00000311135:R435M	R	-	2	0	DHX37	124019137	1.000000	0.71417	0.930000	0.37139	0.707000	0.40811	7.247000	0.78257	2.263000	0.75096	0.561000	0.74099	AGG		0.602	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		45	149	1	0	2.43468e-25	0.01441	3.34769e-25	45	149				
TMEM132B	114795	broad.mit.edu	37	12	126137061	126137061	+	Silent	SNP	G	G	T	rs373773292	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:126137061G>T	ENST00000299308.3	+	8	1982	c.1974G>T	c.(1972-1974)gcG>gcT	p.A658A	TMEM132B_ENST00000535886.1_Silent_p.A170A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	658			A -> V (in dbSNP:rs16919359). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)		p.A658A(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCACCATCGCGGAGCTGGGAG	0.587																																							uc001uhe.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1972-1974)GCG>GCT		transmembrane protein 132B							48.0	52.0	51.0					12																	126137061		2106	4242	6348	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126137061G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1974G>T	12.37:g.126137061G>T						TMEM132B_uc001uhf.1_Silent_p.A170A	p.A658A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	1982	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		658			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.1974G>T	CCDS41859.1																																																																																				0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		23	46	1	0	1.1804e-14	0.003954	1.53854e-14	23	46				
EP400	57634	broad.mit.edu	37	12	132546780	132546780	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:132546780C>T	ENST00000333577.4	+	47	8227	c.8118C>T	c.(8116-8118)gtC>gtT	p.V2706V	EP400_ENST00000330386.6_Silent_p.V2589V|EP400_ENST00000389561.2_Silent_p.V2670V|EP400_ENST00000389562.2_Silent_p.V2669V|EP400_ENST00000332482.4_Silent_p.V2633V			Q96L91	EP400_HUMAN	E1A binding protein p400	2706	Interaction with ZNF42. {ECO:0000250}.				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)	p.V2669V(1)		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)		TTCGAGCGGTCACTTCTGTGA	0.662																																							uc001ujn.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8008-8010)GTC>GTT		E1A binding protein p400							54.0	55.0	55.0					12																	132546780		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:132546780C>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.8118C>T	12.37:g.132546780C>T						EP400_uc001ujl.2_Silent_p.V2669V|EP400_uc001ujm.2_Silent_p.V2589V|EP400_uc001ujp.2_5'Flank	p.V2670V	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)	45	8045	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2706			Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8010C>T																																																																																					0.662	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		15	99	0	0	0	0.00245	0	15	99				
PGAM5	192111	broad.mit.edu	37	12	133291505	133291505	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:133291505C>G	ENST00000498926.2	+	2	311	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.L85V|PXMP2_ENST00000545677.1_Missense_Mutation_p.A124G|PGAM5_ENST00000543955.1_5'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	85					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GGAAGAAGAGCTGGCGTCCAA	0.542																																							uc009zyv.2		NA																	0					0						c.(253-255)CTG>GTG		phosphoglycerate mutase family member 5							166.0	122.0	137.0					12																	133291505		2203	4300	6503	SO:0001583	missense	192111					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity	g.chr12:133291505C>G	BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.253C>G	12.37:g.133291505C>G	ENSP00000438465:p.Leu85Val					PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.L85V	p.L85V	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)	2	280	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		85					A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	c.253C>G	CCDS53845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.131|7.131	0.579987|0.579987	0.13686|0.13686	.|.	.|.	ENSG00000176894|ENSG00000247077	ENST00000545677|ENST00000317555;ENST00000498926	.|.	.|.	.|.	4.64|4.64	-0.382|-0.382	0.12481|0.12481	.|.	.|0.418115	.|0.23830	.|N	.|0.044145	T|T	0.28665|0.28665	0.0710|0.0710	L|L	0.55481|0.55481	1.735|1.735	0.18873|0.18873	N|N	0.999986|0.999986	.|B;B	.|0.17465	.|0.001;0.022	.|B;B	.|0.13407	.|0.004;0.009	T|T	0.13980|0.13980	-1.0489|-1.0489	6|9	0.87932|0.20519	D|T	0|0.43	-4.4802|-4.4802	3.937|3.937	0.09310|0.09310	0.2284:0.5243:0.1022:0.1451|0.2284:0.5243:0.1022:0.1451	.|.	.|85;85	.|Q96HS1;Q96HS1-2	.|PGAM5_HUMAN;.	G|V	124|85	.|.	ENSP00000444697:A124G|ENSP00000321503:L85V	A|L	+|+	2|1	0|2	PXMP2|PGAM5	131801578|131801578	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.423000|0.423000	0.31445|0.31445	0.365000|0.365000	0.20348|0.20348	0.030000|0.030000	0.15379|0.15379	0.462000|0.462000	0.41574|0.41574	GCT|CTG		0.542	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		8	87	0	0	0	0.008291	0	8	87				
SACS	26278	broad.mit.edu	37	13	23913317	23913317	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:23913317G>A	ENST00000382292.3	-	9	4971	c.4698C>T	c.(4696-4698)atC>atT	p.I1566I	SACS_ENST00000382298.3_Silent_p.I1566I|SACS_ENST00000402364.1_Silent_p.I816I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1566					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)		GAATGTCAGTGATATGGTACA	0.343																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4696-4698)ATC>ATT		sacsin							85.0	85.0	85.0					13																	23913317		2200	4298	6498	SO:0001819	synonymous_variant	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.chr13:23913317G>A	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.4698C>T	13.37:g.23913317G>A						SACS_uc001uoo.2_Silent_p.I1419I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.I1566I	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	5287	-		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)	1566					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.4698C>T	CCDS9300.2																																																																																				0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	48	0	0	0	0.001168	0	5	48				
ATP8A2	51761	broad.mit.edu	37	13	26155990	26155990	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:26155990G>T	ENST00000381655.2	+	23	2183	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.D641Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	641					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D681Y(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCCATAGAAGATCGCCTTCA	0.393																																							uc001uqk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2041-2043)GAT>TAT		ATPase, aminophospholipid transporter-like,							97.0	89.0	92.0					13																	26155990		1853	4096	5949	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26155990G>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2041G>T	13.37:g.26155990G>T	ENSP00000371070:p.Asp681Tyr					ATP8A2_uc010tdi.1_Missense_Mutation_p.D641Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.D191Y	p.D681Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	23	2183	+		Breast(139;0.0201)|Lung SC(185;0.0225)	641			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2041G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732139	0.89390	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.87966	-2.32;-2.32	6.17	6.17	0.99709	ATPase, cation-transporting, domain N (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	H	0.99555	4.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97852	1.0275	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	641;461;641	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	Y	681;641;461	ENSP00000371070:D681Y;ENSP00000255283:D641Y	ENSP00000255283:D641Y	D	+	1	0	ATP8A2	25053990	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.756000	0.98918	2.941000	0.99782	0.655000	0.94253	GAT		0.393	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		18	29	1	0	3.52763e-06	0.00499	3.97372e-06	18	29				
FLT3	2322	broad.mit.edu	37	13	28578214	28578214	+	Missense_Mutation	SNP	G	G	T	rs587778369		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:28578214G>T	ENST00000241453.7	-	24	3038	c.2957C>A	c.(2956-2958)cCg>cAg	p.P986Q	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000537084.1_Missense_Mutation_p.P945Q|FLT3_ENST00000380982.4_Missense_Mutation_p.P989Q	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	986					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P986Q(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAGCCTGCGGAGAGAGTAG	0.463			"""Mis, O"""		"""AML, ALL"""																																		uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2956-2958)CCG>CAG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						114.0	108.0	110.0					13																	28578214		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28578214G>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2957C>A	13.37:g.28578214G>T	ENSP00000241453:p.Pro986Gln					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.P945Q	p.P986Q	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	24	3039	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	986			Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2957C>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891105	0.52014	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78924	-1.15;-1.22;-0.89	4.54	3.66	0.41972	.	0.310331	0.28442	N	0.015330	T	0.71533	0.3351	L	0.27053	0.805	0.09310	N	1	P;P	0.41131	0.739;0.664	P;B	0.49276	0.605;0.238	T	0.63625	-0.6595	10	0.66056	D	0.02	.	7.6521	0.28354	0.122:0.0:0.878:0.0	.	945;986	P36888-2;P36888	.;FLT3_HUMAN	Q	986;989;945	ENSP00000241453:P986Q;ENSP00000370369:P989Q;ENSP00000438139:P945Q	ENSP00000241453:P986Q	P	-	2	0	FLT3	27476214	0.202000	0.23423	0.009000	0.14445	0.006000	0.05464	2.718000	0.47236	1.055000	0.40461	0.561000	0.74099	CCG		0.463	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			17	27	1	0	1.15088e-07	0.004007	1.34873e-07	17	27				
FLT1	2321	broad.mit.edu	37	13	28880878	28880878	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:28880878G>T	ENST00000282397.4	-	29	4003	c.3752C>A	c.(3751-3753)gCc>gAc	p.A1251D	FLT1_ENST00000540678.1_Missense_Mutation_p.A469D|FLT1_ENST00000543394.1_Missense_Mutation_p.A274D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1251					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.A1251D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATGGGAGAGGCCAACAGAGT	0.547																																							uc001usb.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(3751-3753)GCC>GAC		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						95.0	86.0	89.0					13																	28880878		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28880878G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3752C>A	13.37:g.28880878G>T	ENSP00000282397:p.Ala1251Asp					FLT1_uc010aap.2_Missense_Mutation_p.A256D|FLT1_uc010aaq.2_Missense_Mutation_p.A376D|FLT1_uc001usa.3_Missense_Mutation_p.A469D	p.A1251D	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	29	4037	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1251			Cytoplasmic (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3752C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396030	0.42512	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.79653	-1.13;-1.29;-1.28	5.23	2.4	0.29515	.	0.472524	0.22476	N	0.059543	T	0.70272	0.3205	L	0.41492	1.28	0.80722	D	1	B	0.32245	0.361	B	0.32289	0.143	T	0.62955	-0.6744	10	0.45353	T	0.12	.	8.5435	0.33406	0.0821:0.2861:0.6318:0.0	.	1251	P17948	VGFR1_HUMAN	D	1251;274;469	ENSP00000282397:A1251D;ENSP00000437841:A274D;ENSP00000443311:A469D	ENSP00000282397:A1251D	A	-	2	0	FLT1	27778878	0.998000	0.40836	0.998000	0.56505	0.294000	0.27393	2.515000	0.45512	0.240000	0.21263	-0.181000	0.13052	GCC		0.547	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			6	36	1	0	5.9392e-07	0.001168	6.8551e-07	6	36				
FLT1	2321	broad.mit.edu	37	13	29001982	29001982	+	Missense_Mutation	SNP	C	C	G	rs369255421		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:29001982C>G	ENST00000282397.4	-	9	1434	c.1183G>C	c.(1183-1185)Gta>Cta	p.V395L	FLT1_ENST00000541932.1_Missense_Mutation_p.V395L|FLT1_ENST00000539099.1_Missense_Mutation_p.V395L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	395	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.V395L(4)|p.V395I(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTCAGTTACGTCCTTGATA	0.388																																							uc001usb.3		NA																	6	Substitution - Missense(6)		lung(4)|kidney(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1183-1185)GTA>CTA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						144.0	129.0	134.0					13																	29001982		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001982C>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1183G>C	13.37:g.29001982C>G	ENSP00000282397:p.Val395Leu					FLT1_uc010aar.1_Missense_Mutation_p.V395L|FLT1_uc001usc.3_Missense_Mutation_p.V395L|FLT1_uc010tdp.1_Missense_Mutation_p.V395L	p.V395L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	9	1468	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	395			Ig-like C2-type 4.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1183G>C	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.332960	0.60853	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.70986	-0.53;-0.53;-0.53	5.85	5.01	0.66863	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061131	0.64402	N	0.000004	T	0.82199	0.4985	M	0.64630	1.985	0.58432	D	0.999992	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	T	0.82739	-0.0308	10	0.46703	T	0.11	.	16.5877	0.84731	0.1314:0.8686:0.0:0.0	.	395;395;395;395	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	L	395	ENSP00000282397:V395L;ENSP00000437631:V395L;ENSP00000442630:V395L	ENSP00000282397:V395L	V	-	1	0	FLT1	27899982	1.000000	0.71417	0.561000	0.28357	0.267000	0.26476	5.215000	0.65241	1.492000	0.48499	-0.133000	0.14855	GTA		0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			15	39	0	0	0	0.003163	0	15	39				
MTUS2	23281	broad.mit.edu	37	13	29600034	29600034	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:29600034C>T	ENST00000431530.3	+	1	1287	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	400						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S410F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAACAGGGCTCTGCTTCCTTA	0.547																																							uc001usl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1228-1230)TCT>TTT		hypothetical protein LOC23281 isoform a							32.0	35.0	34.0					13																	29600034		1926	4152	6078	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600034C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1229C>T	13.37:g.29600034C>T	ENSP00000392057:p.Ser410Phe						p.S410F	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	1287	+			400					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1229C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	11.28	1.593624	0.28445	.	.	ENSG00000132938	ENST00000431530	T	0.12361	2.69	5.4	2.39	0.29439	.	0.828326	0.10320	N	0.688876	T	0.09555	0.0235	L	0.29908	0.895	0.09310	N	0.999999	B	0.31174	0.311	B	0.27076	0.076	T	0.37502	-0.9703	9	.	.	.	.	7.6744	0.28478	0.0:0.7027:0.0:0.2973	.	400	Q5JR59	MTUS2_HUMAN	F	410	ENSP00000392057:S410F	.	S	+	2	0	MTUS2	28498034	0.000000	0.05858	0.060000	0.19600	0.031000	0.12232	-0.268000	0.08607	0.141000	0.18875	0.655000	0.94253	TCT		0.547	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	15	0	0	0	0.000602	0	5	15				
NBEA	26960	broad.mit.edu	37	13	35624523	35624523	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:35624523A>T	ENST00000400445.3	+	6	1497	c.963A>T	c.(961-963)caA>caT	p.Q321H	NBEA_ENST00000540320.1_Missense_Mutation_p.Q321H|NBEA_ENST00000310336.4_Missense_Mutation_p.Q321H|NBEA_ENST00000379939.2_Missense_Mutation_p.Q321H	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	321					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.Q321H(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGATTTTCAACCACGCAAGG	0.353																																							uc001uvb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(961-963)CAA>CAT		neurobeachin							54.0	46.0	49.0					13																	35624523		1823	4074	5897	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35624523A>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.963A>T	13.37:g.35624523A>T	ENSP00000383295:p.Gln321His						p.Q321H	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	7	1169	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	321					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.963A>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773498	0.69992	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.33	-7.17	0.01511	.	0.000000	0.85682	D	0.000000	T	0.77465	0.4134	L	0.49350	1.555	0.80722	D	1	D	0.61697	0.99	P	0.59288	0.855	T	0.80259	-0.1457	10	0.45353	T	0.12	.	21.2837	0.99950	0.3414:0.0:0.6586:0.0	.	321	Q5T321	.	H	321	ENSP00000440951:Q321H;ENSP00000383295:Q321H;ENSP00000369271:Q321H;ENSP00000308534:Q321H	ENSP00000308534:Q321H	Q	+	3	2	NBEA	34522523	0.981000	0.34729	0.623000	0.29173	0.955000	0.61496	0.173000	0.16724	-2.075000	0.00876	-1.463000	0.01021	CAA		0.353	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		3	5	0	0	0	0.004672	0	3	5				
NBEA	26960	broad.mit.edu	37	13	36241513	36241513	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:36241513G>T	ENST00000400445.3	+	56	8938	c.8404G>T	c.(8404-8406)Ggc>Tgc	p.G2802C	NBEA_ENST00000310336.4_Missense_Mutation_p.G2802C|NBEA_ENST00000379922.3_Missense_Mutation_p.G380C|NBEA_ENST00000379939.2_Missense_Mutation_p.G2799C|NBEA_ENST00000540320.1_Missense_Mutation_p.G2802C|NBEA_ENST00000537702.1_Missense_Mutation_p.G595C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2802					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.G2802C(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTGCAGAGGGCCCTTGCCT	0.532																																							uc001uvb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(8404-8406)GGC>TGC		neurobeachin							80.0	84.0	83.0					13																	36241513		2059	4202	6261	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36241513G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8404G>T	13.37:g.36241513G>T	ENSP00000383295:p.Gly2802Cys					NBEA_uc010abi.2_Missense_Mutation_p.G1460C|NBEA_uc010tef.1_Missense_Mutation_p.G595C|NBEA_uc001uvd.2_Missense_Mutation_p.G380C	p.G2802C	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	56	8610	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2802			WD 3.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.8404G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048474	0.93740	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.88105	2.93	0.80722	D	1	P;D;D	0.89917	0.598;1.0;1.0	P;D;D	0.97110	0.489;1.0;0.996	T	0.79790	-0.1655	10	0.87932	D	0	.	19.8966	0.96963	0.0:0.0:1.0:0.0	.	2802;380;2799	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	C	2802;2802;2799;2802;1431;380;595;380	ENSP00000440951:G2802C;ENSP00000383295:G2802C;ENSP00000369271:G2799C;ENSP00000308534:G2802C;ENSP00000440233:G595C;ENSP00000369254:G380C	ENSP00000308534:G2802C	G	+	1	0	NBEA	35139513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.822000	0.86651	2.700000	0.92200	0.655000	0.94253	GGC		0.532	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		7	55	1	0	1.06961e-07	0.00308	1.25857e-07	7	55				
DCLK1	9201	broad.mit.edu	37	13	36699915	36699915	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:36699915C>G	ENST00000360631.3	-	2	571	c.360G>C	c.(358-360)ctG>ctC	p.L120L	DCLK1_ENST00000379892.4_Silent_p.L120L|DCLK1_ENST00000255448.4_Silent_p.L120L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	120	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.L120L(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGTTGGTCCAGGCTGGAAA	0.522																																							uc001uvf.2		NA																	4	Substitution - coding silent(4)		lung(4)	stomach(6)|ovary(2)|skin(1)	9						c.(358-360)CTG>CTC		doublecortin-like kinase 1							73.0	73.0	73.0					13																	36699915		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36699915C>G	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.360G>C	13.37:g.36699915C>G							p.L120L	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	593	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	120			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.360G>C																																																																																					0.522	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		16	36	0	0	0	0.004007	0	16	36				
TRPC4	7223	broad.mit.edu	37	13	38266182	38266182	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:38266182A>T	ENST00000379705.3	-	4	2045	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G	TRPC4_ENST00000447043.1_Silent_p.G396G|TRPC4_ENST00000358477.2_Silent_p.G396G|TRPC4_ENST00000379679.1_Silent_p.G223G|TRPC4_ENST00000379681.3_Silent_p.G396G|TRPC4_ENST00000338947.5_Silent_p.G223G|TRPC4_ENST00000355779.2_Silent_p.G396G|TRPC4_ENST00000426868.2_Silent_p.G396G|TRPC4_ENST00000379673.2_Silent_p.G396G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	396					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.G396G(4)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGGTGGTGGACCTTGCCTGT	0.433																																							uc001uws.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|skin(2)|breast(1)	6						c.(1186-1188)GGT>GGA		transient receptor potential cation channel,							111.0	100.0	104.0					13																	38266182		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266182A>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1188T>A	13.37:g.38266182A>T						TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Silent_p.G396G|TRPC4_uc010tey.1_Silent_p.G396G|TRPC4_uc010abw.2_Silent_p.G223G|TRPC4_uc010abx.2_Silent_p.G396G|TRPC4_uc010aby.2_Silent_p.G396G	p.G396G	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1423	-			396			Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.1188T>A	CCDS9365.1																																																																																				0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		23	26	0	0	0	0.00278	0	23	26				
TRPC4	7223	broad.mit.edu	37	13	38266380	38266380	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:38266380C>A	ENST00000379705.3	-	4	1847	c.990G>T	c.(988-990)atG>atT	p.M330I	TRPC4_ENST00000447043.1_Missense_Mutation_p.M330I|TRPC4_ENST00000358477.2_Missense_Mutation_p.M330I|TRPC4_ENST00000379679.1_Missense_Mutation_p.M157I|TRPC4_ENST00000379681.3_Missense_Mutation_p.M330I|TRPC4_ENST00000338947.5_Missense_Mutation_p.M157I|TRPC4_ENST00000355779.2_Missense_Mutation_p.M330I|TRPC4_ENST00000426868.2_Missense_Mutation_p.M330I|TRPC4_ENST00000379673.2_Missense_Mutation_p.M330I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	330					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.M330I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACATGTCACCATCTTCACTG	0.478																																							uc001uws.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(988-990)ATG>ATT		transient receptor potential cation channel,							111.0	95.0	100.0					13																	38266380		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266380C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.990G>T	13.37:g.38266380C>A	ENSP00000369027:p.Met330Ile					TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.M330I|TRPC4_uc010tey.1_Missense_Mutation_p.M330I|TRPC4_uc010abw.2_Missense_Mutation_p.M157I|TRPC4_uc010abx.2_Missense_Mutation_p.M330I|TRPC4_uc010aby.2_Missense_Mutation_p.M330I	p.M330I	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1225	-			330			Helical; (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.990G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	7.498	0.652006	0.14580	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.12	5.12	0.69794	.	0.123680	0.85682	D	0.000000	T	0.21227	0.0511	N	0.03917	-0.325	0.43385	D	0.995494	B;B;B;B;B;B	0.29270	0.05;0.108;0.048;0.24;0.027;0.036	B;B;B;B;B;B	0.32465	0.022;0.037;0.025;0.146;0.022;0.017	T	0.11542	-1.0583	10	0.19590	T	0.45	-34.5784	18.9249	0.92540	0.0:1.0:0.0:0.0	.	330;330;330;157;330;330	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	I	330;330;157;157;330;330;330;330;330	ENSP00000369027:M330I;ENSP00000369003:M330I;ENSP00000342580:M157I;ENSP00000369001:M157I;ENSP00000410133:M330I;ENSP00000348025:M330I;ENSP00000351264:M330I;ENSP00000368995:M330I;ENSP00000414316:M330I	ENSP00000342580:M157I	M	-	3	0	TRPC4	37164380	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.066000	0.41452	2.530000	0.85305	0.467000	0.42956	ATG		0.478	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		6	30	1	0	0.00116845	0.001168	0.00122497	6	30				
KBTBD6	89890	broad.mit.edu	37	13	41706012	41706012	+	Missense_Mutation	SNP	C	C	A	rs542001637		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:41706012C>A	ENST00000379485.1	-	1	870	c.636G>T	c.(634-636)gaG>gaT	p.E212D	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E146D	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	212								p.E212D(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGCTAGAGTCTCCTCCCGAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20666	0.0		0.0	False		,,,				2504	0.001						uc001uxu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(634-636)GAG>GAT		kelch repeat and BTB (POZ) domain-containing 6							84.0	82.0	82.0					13																	41706012		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41706012C>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.636G>T	13.37:g.41706012C>A	ENSP00000368799:p.Glu212Asp					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E146D|uc001uxv.1_5'Flank	p.E212D	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	925	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	212					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.636G>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	6.809	0.518276	0.13005	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.71103	-0.54;-0.54	3.69	0.963	0.19649	BTB/Kelch-associated (2);	0.151241	0.43416	D	0.000569	T	0.57110	0.2031	L	0.45228	1.405	0.29067	N	0.883536	B;B	0.21606	0.058;0.044	B;B	0.22152	0.022;0.038	T	0.48958	-0.8988	10	0.37606	T	0.19	.	7.1658	0.25689	0.0:0.6808:0.0:0.3192	.	146;212	F5GZN7;Q86V97	.;KBTB6_HUMAN	D	212;146	ENSP00000368799:E212D;ENSP00000444326:E146D	ENSP00000368799:E212D	E	-	3	2	KBTBD6	40604012	0.827000	0.29292	0.476000	0.27291	0.567000	0.35839	1.008000	0.29872	0.053000	0.16036	-0.379000	0.06801	GAG		0.562	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		17	112	1	0	6.49762e-13	0.006122	8.27592e-13	17	112				
ENOX1	55068	broad.mit.edu	37	13	43930179	43930179	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:43930179C>A	ENST00000261488.6	-	8	1276	c.699G>T	c.(697-699)agG>agT	p.R233S	ENOX1_ENST00000540032.1_Missense_Mutation_p.R46S|ENOX1_ENST00000412891.1_Missense_Mutation_p.R233S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	233					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.R233S(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGGCACGCATCCTCTGCTTGC	0.617																																							uc001uza.3		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(697-699)AGG>AGT		ecto-NOX disulfide-thiol exchanger 1							79.0	78.0	78.0					13																	43930179		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43930179C>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.699G>T	13.37:g.43930179C>A	ENSP00000261488:p.Arg233Ser					ENOX1_uc001uzb.3_Missense_Mutation_p.R233S|ENOX1_uc001uzc.3_Missense_Mutation_p.R233S|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.R46S	p.R233S	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	8	999	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	233					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.699G>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086195	0.76642	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.58652	0.32;0.32	5.64	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.77313	2.365	0.53688	D	0.999971	D;D	0.57899	0.968;0.981	P;D	0.69824	0.703;0.966	T	0.75351	-0.3348	10	0.87932	D	0	-0.0012	9.6046	0.39626	0.0:0.7897:0.0:0.2103	.	46;233	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	S	233;233;46	ENSP00000261488:R233S;ENSP00000415054:R233S	ENSP00000261488:R233S	R	-	3	2	ENOX1	42828179	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.511000	0.22739	2.667000	0.90743	0.655000	0.94253	AGG		0.617	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		20	163	1	0	4.96729e-08	0.008871	5.87338e-08	20	163				
CCDC70	83446	broad.mit.edu	37	13	52439604	52439604	+	Silent	SNP	G	G	C	rs112168960	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:52439604G>C	ENST00000242819.4	+	2	386	c.90G>C	c.(88-90)gcG>gcC	p.A30A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	30						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507																																							uc001vfu.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)GCG>GCC		coiled-coil domain containing 70 precursor							66.0	67.0	67.0					13																	52439604		2203	4300	6503	SO:0001819	synonymous_variant	83446					extracellular region|plasma membrane		g.chr13:52439604G>C		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.90G>C	13.37:g.52439604G>C						uc010tgr.1_RNA	p.A30A	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	386	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	30					Q8N7A8|Q9H097	Silent	SNP	ENST00000242819.4	37	c.90G>C	CCDS9431.1																																																																																				0.507	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		19	104	0	0	0	0.014323	0	19	104				
ATP7B	540	broad.mit.edu	37	13	52511514	52511514	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:52511514C>A	ENST00000242839.4	-	19	4075	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ATP7B_ENST00000418097.2_Missense_Mutation_p.V1242L|ATP7B_ENST00000344297.5_Missense_Mutation_p.V1100L|ATP7B_ENST00000448424.2_Missense_Mutation_p.V1229L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V1196L|ATP7B_ENST00000417240.2_Missense_Mutation_p.V518L|ATP7B_ENST00000400370.3_Missense_Mutation_p.V877L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1307					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.V1307L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTAGCCACCACATCCAGCAAA	0.552									Wilson disease																														uc001vfw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3919-3921)GTG>TTG		ATPase, Cu++ transporting, beta polypeptide							101.0	107.0	105.0					13																	52511514		2141	4253	6394	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52511514C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3919G>T	13.37:g.52511514C>A	ENSP00000242839:p.Val1307Leu					ATP7B_uc010adv.2_Missense_Mutation_p.V877L|ATP7B_uc001vfx.2_Missense_Mutation_p.V1100L|ATP7B_uc001vfy.2_Missense_Mutation_p.V1196L|ATP7B_uc010tgt.1_Missense_Mutation_p.V1242L|ATP7B_uc010tgu.1_Missense_Mutation_p.V1259L|ATP7B_uc010tgv.1_Missense_Mutation_p.V1229L|ATP7B_uc001vfv.2_Missense_Mutation_p.V579L|ATP7B_uc010tgs.1_Missense_Mutation_p.V518L	p.V1307L	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	19	4076	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1307			Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.3919G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734889	0.69189	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62	5.25	5.25	0.73442	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	L	0.41710	1.295	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.996;0.968;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.986;0.922;0.996;0.997;0.996;1.0;0.996;0.999	D	0.99683	1.0999	10	0.87932	D	0	-25.4635	19.2134	0.93766	0.0:1.0:0.0:0.0	.	1229;1259;1242;518;877;1196;1100;1307	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	L	1307;1196;1100;518;1229;877;1242	ENSP00000242839:V1307L;ENSP00000383217:V1196L;ENSP00000342559:V1100L;ENSP00000390360:V518L;ENSP00000416738:V1229L;ENSP00000383221:V877L;ENSP00000393343:V1242L	ENSP00000242839:V1307L	V	-	1	0	ATP7B	51409515	1.000000	0.71417	0.956000	0.39512	0.609000	0.37215	7.770000	0.85390	2.606000	0.88127	0.591000	0.81541	GTG		0.552	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		47	58	1	0	1.61004e-24	0.01441	2.21171e-24	47	58				
KLHL1	57626	broad.mit.edu	37	13	70535449	70535449	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:70535449C>A	ENST00000377844.4	-	3	1567	c.808G>T	c.(808-810)Gca>Tca	p.A270S	KLHL1_ENST00000545028.1_Missense_Mutation_p.A77S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	270	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.A270S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGTATATGCAAATTGGACA	0.353																																							uc001vip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GCA>TCA		kelch-like 1 protein							132.0	119.0	123.0					13																	70535449		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535449C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.808G>T	13.37:g.70535449C>A	ENSP00000367075:p.Ala270Ser					KLHL1_uc010thm.1_Missense_Mutation_p.A209S	p.A270S	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1602	-		Breast(118;0.000162)	270			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.808G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770790	0.69992	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.71579	-0.58;-0.58	5.08	5.08	0.68730	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.087706	0.49916	D	0.000139	T	0.75213	0.3819	M	0.61703	1.905	0.46458	D	0.999054	P;P	0.45634	0.863;0.629	P;B	0.46917	0.531;0.377	T	0.77838	-0.2439	10	0.54805	T	0.06	.	18.8503	0.92225	0.0:1.0:0.0:0.0	.	270;270	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	S	270;77	ENSP00000367075:A270S;ENSP00000439602:A77S	ENSP00000367075:A270S	A	-	1	0	KLHL1	69433450	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.036000	0.70948	2.531000	0.85337	0.563000	0.77884	GCA		0.353	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		6	15	1	0	3.59834e-05	0.001168	3.94026e-05	6	15				
KLHL1	57626	broad.mit.edu	37	13	70681521	70681521	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:70681521T>G	ENST00000377844.4	-	1	1070	c.311A>C	c.(310-312)cAg>cCg	p.Q104P	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	104					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.Q104P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCCCCTTGCTGCAGCCTCGT	0.597																																							uc001vip.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(310-312)CAG>CCG		kelch-like 1 protein							49.0	50.0	49.0					13																	70681521		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681521T>G	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.311A>C	13.37:g.70681521T>G	ENSP00000367075:p.Gln104Pro					KLHL1_uc010thm.1_Missense_Mutation_p.Q104P|ATXN8OS_uc010aej.1_RNA	p.Q104P	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1105	-		Breast(118;0.000162)	104					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.311A>C	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530993	0.45073	.	.	ENSG00000150361	ENST00000377844	T	0.72615	-0.67	5.45	4.28	0.50868	.	3.996410	0.00166	N	0.000000	T	0.57257	0.2041	N	0.22421	0.69	0.80722	D	1	B;B	0.31730	0.0;0.337	B;B	0.23419	0.0;0.046	T	0.50890	-0.8774	10	0.27082	T	0.32	.	7.5566	0.27827	0.0:0.1525:0.0:0.8475	.	104;104	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	P	104	ENSP00000367075:Q104P	ENSP00000367075:Q104P	Q	-	2	0	KLHL1	69579522	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.877000	0.39598	2.065000	0.61736	0.533000	0.62120	CAG		0.597	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		33	25	0	0	0	0.010818	0	33	25				
DIS3	22894	broad.mit.edu	37	13	73334716	73334716	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:73334716G>A	ENST00000377767.4	-	20	2844	c.2744C>T	c.(2743-2745)tCa>tTa	p.S915L	DIS3_ENST00000545453.1_Missense_Mutation_p.S753L|DIS3_ENST00000377780.4_Missense_Mutation_p.S885L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	915					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.S915L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGATTAGATGAGTCTAACAT	0.328										Multiple Myeloma(4;0.011)																													uc001vix.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2743-2745)TCA>TTA		DIS3 mitotic control isoform a							129.0	119.0	123.0					13																	73334716		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73334716G>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2744C>T	13.37:g.73334716G>A	ENSP00000366997:p.Ser915Leu	Multiple Myeloma(4;0.011)				DIS3_uc001viy.3_Missense_Mutation_p.S885L|DIS3_uc001viz.2_RNA	p.S915L	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	20	3118	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	915					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2744C>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448580	0.63178	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.22743	1.94;1.94;1.94	5.8	5.8	0.92144	.	0.315308	0.31784	N	0.007080	T	0.17662	0.0424	N	0.20574	0.59	0.39658	D	0.970566	B;B	0.33807	0.426;0.161	B;B	0.36845	0.234;0.118	T	0.06499	-1.0823	10	0.39692	T	0.17	.	16.3167	0.82931	0.0:0.0:0.8673:0.1327	.	885;915	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	L	915;885;753	ENSP00000366997:S915L;ENSP00000367011:S885L;ENSP00000440058:S753L	ENSP00000366997:S915L	S	-	2	0	DIS3	72232717	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.654000	0.54453	2.740000	0.93945	0.650000	0.86243	TCA		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		4	40	0	0	0	0.001168	0	4	40				
CLN5	1203	broad.mit.edu	37	13	77566091	77566091	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:77566091G>C	ENST00000377453.3	+	1	1297	c.5G>C	c.(4-6)cGc>cCc	p.R2P		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	0					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)	p.R2P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GGTGTCATGCGCCGGAACCTG	0.706																																							uc001vkc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)CGC>CCC		ceroid-lipofuscinosis, neuronal 5							3.0	4.0	3.0					13																	77566091		1791	3651	5442	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77566091G>C		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.5G>C	13.37:g.77566091G>C	ENSP00000366673:p.Arg2Pro						p.R2P	NM_006493	NP_006484	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	1	33	+		Acute lymphoblastic leukemia(28;0.205)	Error:Variant_position_missing_in_O75503_after_alignment					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.5G>C	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255465	0.39896	.	.	ENSG00000102805	ENST00000377453	T	0.35236	1.32	3.0	-1.4	0.08968	.	.	.	.	.	T	0.34337	0.0894	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39800	-0.9596	6	0.87932	D	0	.	6.7817	0.23650	0.0:0.3104:0.3723:0.3173	.	.	.	.	P	2	ENSP00000366673:R2P	ENSP00000366673:R2P	R	+	2	0	CLN5	76464092	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.180000	0.16860	-0.359000	0.08150	-0.502000	0.04539	CGC		0.706	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		6	9	0	0	0	0.001168	0	6	9				
MYCBP2	23077	broad.mit.edu	37	13	77765894	77765894	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:77765894C>A	ENST00000544440.2	-	28	3893	c.3876G>T	c.(3874-3876)tgG>tgT	p.W1292C	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.W1330C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.W1292C					MYC binding protein 2, E3 ubiquitin protein ligase									p.W1292C(4)|p.W1330C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGCCACATACCACCACCCAG	0.438																																							uc001vkf.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(3874-3876)TGG>TGT		MYC binding protein 2							95.0	79.0	84.0					13																	77765894		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77765894C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3876G>T	13.37:g.77765894C>A	ENSP00000444596:p.Trp1292Cys					MYCBP2_uc010aev.2_Missense_Mutation_p.W696C	p.W1292C	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	29	3967	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1292						Missense_Mutation	SNP	ENST00000544440.2	37	c.3876G>T		.	.	.	.	.	.	.	.	.	.	C	24.3	4.516962	0.85495	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.33654	1.4;1.4;1.4	5.55	5.55	0.83447	PHR (1);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57705	-0.7765	10	0.87932	D	0	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	1292	O75592	MYCB2_HUMAN	C	1292;1330;1292	ENSP00000349892:W1292C;ENSP00000384288:W1330C;ENSP00000444596:W1292C	ENSP00000349892:W1292C	W	-	3	0	MYCBP2	76663895	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.445000	0.80570	2.768000	0.95171	0.655000	0.94253	TGG		0.438	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		14	19	1	0	1.5842e-08	0.001855	1.8979e-08	14	19				
ABCC4	10257	broad.mit.edu	37	13	95862948	95862948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:95862948G>A	ENST00000376887.4	-	5	733	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q132*|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q207*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q207*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	207	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q207*(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CAGCTTACCTGATCAAACTTG	0.458																																							uc001vmd.3		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(3)|skin(1)	4						c.(619-621)CAG>TAG		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						185.0	141.0	156.0					13																	95862948		2203	4300	6503	SO:0001587	stop_gained	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95862948G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.619C>T	13.37:g.95862948G>A	ENSP00000366084:p.Gln207*					ABCC4_uc010afk.2_Nonsense_Mutation_p.Q207*|ABCC4_uc001vme.2_Nonsense_Mutation_p.Q207*|ABCC4_uc010tih.1_Nonsense_Mutation_p.Q132*|ABCC4_uc001vmf.2_Nonsense_Mutation_p.Q164*|ABCC4_uc010afl.1_Nonsense_Mutation_p.Q164*|ABCC4_uc010afm.1_Nonsense_Mutation_p.Q220*	p.Q207*	NM_005845	NP_005836	O15439	MRP4_HUMAN			5	738	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		207			ABC transmembrane type-1 1.|Helical; (Potential).		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Nonsense_Mutation	SNP	ENST00000376887.4	37	c.619C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	36	5.616386	0.96649	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	.	.	.	4.85	4.85	0.62838	.	0.054165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.0014	0.89198	0.0:0.0:1.0:0.0	.	.	.	.	X	207;207;132;207	.	ENSP00000366084:Q207X	Q	-	1	0	ABCC4	94660949	1.000000	0.71417	0.946000	0.38457	0.650000	0.38633	6.627000	0.74258	2.249000	0.74217	0.563000	0.77884	CAG		0.458	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	50	0	0	0	0.001168	0	6	50				
COL4A1	1282	broad.mit.edu	37	13	110817207	110817207	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:110817207A>T	ENST00000375820.4	-	46	4272		c.e46+1		COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCTTCTCACCTTGCTGGC	0.597																																							uc001vqw.3		NA																	2	Unknown(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.e46+1		alpha 1 type IV collagen preproprotein							16.0	16.0	16.0					13																	110817207		2198	4293	6491	SO:0001630	splice_region_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110817207A>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4150+1T>A	13.37:g.110817207A>T						COL4A1_uc010agl.2_Intron	p.G1384_splice	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		46	4272	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)						A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Splice_Site	SNP	ENST00000375820.4	37	c.4150_splice	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559385	0.45590	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9919	0.71396	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A1	109615208	1.000000	0.71417	0.949000	0.38748	0.849000	0.48306	8.698000	0.91311	1.938000	0.56188	0.533000	0.62120	.		0.597	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		Intron	4	36	0	0	0	0.009096	0	4	36				
SOX1	6656	broad.mit.edu	37	13	112722007	112722007	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:112722007C>T	ENST00000330949.1	+	1	95	c.35C>T	c.(34-36)tCg>tTg	p.S12L		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	12					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GACCTGCACTCGCCCGGCGGC	0.796																																							uc001vsb.1		NA																	0					0						c.(34-36)TCG>TTG		SRY (sex determining region Y)-box 1							8.0	10.0	9.0					13																	112722007		1990	4084	6074	SO:0001583	missense	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722007C>T		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.35C>T	13.37:g.112722007C>T	ENSP00000330218:p.Ser12Leu						p.S12L	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	95	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	12					Q5W0Q1	Missense_Mutation	SNP	ENST00000330949.1	37	c.35C>T	CCDS9523.1	.	.	.	.	.	.	.	.	.	.	-	16.06	3.014468	0.54468	.	.	ENSG00000182968	ENST00000330949	D	0.97642	-4.47	3.66	2.81	0.32909	.	0.000000	0.64402	U	0.000002	D	0.93099	0.7803	N	0.19112	0.55	0.41111	D	0.985747	D	0.69078	0.997	P	0.44561	0.453	D	0.92292	0.5842	10	0.72032	D	0.01	.	12.0804	0.53667	0.1733:0.8267:0.0:0.0	.	12	O00570	SOX1_HUMAN	L	12	ENSP00000330218:S12L	ENSP00000330218:S12L	S	+	2	0	SOX1	111770008	1.000000	0.71417	0.305000	0.25099	0.893000	0.52053	4.808000	0.62583	0.746000	0.32786	0.450000	0.29827	TCG		0.796	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		5	32	0	0	0	0.000602	0	5	32				
MCF2L	23263	broad.mit.edu	37	13	113719264	113719264	+	Silent	SNP	C	C	T	rs199810332	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:113719264C>T	ENST00000375608.3	+	8	769	c.711C>T	c.(709-711)ttC>ttT	p.F237F	MCF2L_ENST00000442652.2_Silent_p.F237F|MCF2L_ENST00000421756.1_Silent_p.F211F|MCF2L_ENST00000375604.2_Silent_p.F264F|MCF2L_ENST00000535094.2_Silent_p.F207F|MCF2L_ENST00000434480.2_Silent_p.F213F|MCF2L_ENST00000397030.1_Silent_p.F240F|MCF2L_ENST00000423482.2_Silent_p.F205F|MCF2L_ENST00000375601.3_Silent_p.F211F|MCF2L_ENST00000375597.4_Silent_p.F205F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	237					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F211F(2)|p.F264F(2)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCGAAAGTTTCGCCCTCATGG	0.577													C|||	5	0.000998403	0.0	0.0	5008	,	,		20712	0.005		0.0	False		,,,				2504	0.0						uc001vsu.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)|kidney(1)	2						c.(790-792)TTC>TTT		MCF.2 cell line derived transforming		C	,	1,4405	2.1+/-5.4	0,1,2202	94.0	74.0	81.0		621,615	-4.2	0.1	13		81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MCF2L	NM_001112732.2,NM_024979.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	207/1126,205/1124	113719264	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113719264C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.711C>T	13.37:g.113719264C>T						MCF2L_uc001vsq.2_Silent_p.F264F|MCF2L_uc010tjr.1_Silent_p.F207F|MCF2L_uc001vsr.2_Silent_p.F211F|MCF2L_uc001vss.3_Silent_p.F205F|MCF2L_uc010tjs.1_Silent_p.F205F|MCF2L_uc001vst.1_Silent_p.F169F	p.F264F	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			7	814	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	237					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.792C>T																																																																																					0.577	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			30	52	0	0	0	0.010818	0	30	52				
RASA3	22821	broad.mit.edu	37	13	114773076	114773076	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:114773076C>G	ENST00000334062.7	-	18	1796	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	RASA3_ENST00000389544.4_Missense_Mutation_p.D527H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	559					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GAAATCAGATCCAAGAACTAA	0.552																																							uc001vui.2		NA																	0				lung(3)|skin(1)	4						c.(1675-1677)GAT>CAT		RAS p21 protein activator 3							93.0	81.0	85.0					13																	114773076		2202	4298	6500	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114773076C>G		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1675G>C	13.37:g.114773076C>G	ENSP00000335029:p.Asp559His					RASA3_uc010tkk.1_Missense_Mutation_p.D527H|RASA3_uc001vuj.2_Missense_Mutation_p.D176H	p.D559H	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		18	1806	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	559					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.1675G>C	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186506	0.57909	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.21191	2.02;2.02	4.58	4.58	0.56647	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.19582	-1.0301	9	.	.	.	.	16.5003	0.84255	0.0:1.0:0.0:0.0	.	559	Q14644	RASA3_HUMAN	H	559;527	ENSP00000335029:D559H;ENSP00000374195:D527H	.	D	-	1	0	RASA3	113791178	1.000000	0.71417	0.601000	0.28877	0.409000	0.31022	5.427000	0.66483	2.244000	0.73946	0.561000	0.74099	GAT		0.552	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		8	51	0	0	0	0.004482	0	8	51				
CHD8	57680	broad.mit.edu	37	14	21860668	21860668	+	Missense_Mutation	SNP	C	C	G	rs201511497		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:21860668C>G	ENST00000557364.1	-	34	7032	c.6769G>C	c.(6769-6771)Gat>Cat	p.D2257H	CHD8_ENST00000430710.3_Missense_Mutation_p.D1978H|CHD8_ENST00000399982.2_Missense_Mutation_p.D2257H|CHD8_ENST00000555962.1_5'Flank|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2257					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.D2257H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCTTACATCTTTGATTTGA	0.463																																							uc001was.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(5932-5934)GAT>CAT		chromodomain helicase DNA binding protein 8							132.0	131.0	131.0					14																	21860668		1969	4165	6134	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860668C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6769G>C	14.37:g.21860668C>G	ENSP00000451601:p.Asp2257His					CHD8_uc001war.1_Missense_Mutation_p.D1874H|SNORD9_uc001wat.1_5'Flank	p.D1978H	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	34	6026	-	all_cancers(95;0.00121)		2257					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.5932G>C	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810445	0.50421	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	D;D;D;T	0.90504	-2.67;-2.68;-2.68;-0.5	5.27	5.27	0.74061	.	0.174909	0.52532	D	0.000073	D	0.88028	0.6327	L	0.34521	1.04	0.36286	D	0.856097	D	0.53745	0.962	P	0.49276	0.605	D	0.90634	0.4569	10	0.72032	D	0.01	-17.7514	11.2644	0.49101	0.0:0.9159:0.0:0.0841	.	1978	Q9HCK8-2	.	H	1978;2257;1977;2257;94	ENSP00000406288:D1978H;ENSP00000382863:D2257H;ENSP00000451601:D2257H;ENSP00000451071:D94H	ENSP00000262707:D1977H	D	-	1	0	CHD8	20930508	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.092000	0.57707	2.729000	0.93468	0.561000	0.74099	GAT		0.463	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		21	110	0	0	0	0.012319	0	21	110				
OR4E2	26686	broad.mit.edu	37	14	22133522	22133522	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:22133522G>T	ENST00000408935.1	+	1	226	c.226G>T	c.(226-228)Gtc>Ttc	p.V76F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V76F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCACTCATCTGTCACTGTGCC	0.433																																							uc010tmd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(226-228)GTC>TTC		olfactory receptor, family 4, subfamily E,							267.0	256.0	260.0					14																	22133522		2000	4186	6186	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133522G>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.226G>T	14.37:g.22133522G>T	ENSP00000386195:p.Val76Phe						p.V76F	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	226	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	76			Helical; Name=2; (Potential).		Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.226G>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	g	11.18	1.563033	0.27915	.	.	ENSG00000221977	ENST00000408935	T	0.00558	6.61	5.11	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34460	U	0.003957	T	0.01730	0.0055	M	0.84082	2.675	0.32096	N	0.591172	D	0.63046	0.992	P	0.59056	0.851	T	0.35574	-0.9783	10	0.33940	T	0.23	.	11.6663	0.51376	0.0879:0.0:0.9121:0.0	.	76	Q8NGC2	OR4E2_HUMAN	F	76	ENSP00000386195:V76F	ENSP00000386195:V76F	V	+	1	0	OR4E2	21203362	0.000000	0.05858	1.000000	0.80357	0.924000	0.55760	0.746000	0.26275	1.158000	0.42547	-0.196000	0.12772	GTC		0.433	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			35	180	1	0	1.62565e-12	0.012213	2.06332e-12	35	180				
NGDN	25983	broad.mit.edu	37	14	23945466	23945466	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:23945466G>C	ENST00000408901.3	+	8	591	c.563G>C	c.(562-564)cGg>cCg	p.R188P	NGDN_ENST00000397154.3_Missense_Mutation_p.R188P|NGDN_ENST00000556580.1_5'UTR	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	188					regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R188P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAGCTGAGCGGGAGAAGAAG	0.468																																							uc001wjy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(562-564)CGG>CCG		neuroguidin isoform 1							69.0	72.0	71.0					14																	23945466		2203	4300	6503	SO:0001583	missense	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23945466G>C	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.563G>C	14.37:g.23945466G>C	ENSP00000386134:p.Arg188Pro					NGDN_uc001wjz.2_Missense_Mutation_p.R188P|NGDN_uc001wka.2_RNA	p.R188P	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	8	590	+	all_cancers(95;0.000251)		188			Potential.		A8K760|Q9Y400	Missense_Mutation	SNP	ENST00000408901.3	37	c.563G>C	CCDS41926.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106691	0.77096	.	.	ENSG00000129460	ENST00000408901;ENST00000397154	T;T	0.34859	1.35;1.34	5.89	5.89	0.94794	.	0.052250	0.85682	D	0.000000	T	0.59810	0.2221	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.62184	0.899;0.795	T	0.57568	-0.7789	10	0.46703	T	0.11	-2.0535	19.0276	0.92939	0.0:0.0:1.0:0.0	.	188;188	Q8NEJ9-2;Q8NEJ9	.;NGDN_HUMAN	P	188	ENSP00000386134:R188P;ENSP00000380340:R188P	ENSP00000380340:R188P	R	+	2	0	NGDN	23015306	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.447000	0.35101	2.797000	0.96272	0.563000	0.77884	CGG		0.468	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		9	55	0	0	0	0.006214	0	9	55				
IRF9	10379	broad.mit.edu	37	14	24631533	24631533	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:24631533G>T	ENST00000396864.3	+	2	467	c.180G>T	c.(178-180)aaG>aaT	p.K60N	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	60					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K60N(2)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTTCTTCAAGGTGAAAGGGC	0.532																																							uc001wmq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(178-180)AAG>AAT		interferon-stimulated transcription factor 3,							83.0	78.0	79.0					14																	24631533		2203	4300	6503	SO:0001630	splice_region_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24631533G>T	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.180+1G>T	14.37:g.24631533G>T						RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank	p.K60N	NM_006084	NP_006075	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	2	307	+			60			IRF tryptophan pentad repeat.		D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.180G>T	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	35	5.532172	0.96446	.	.	ENSG00000213928	ENST00000396864	D	0.98567	-5.0	5.64	5.64	0.86602	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.64402	U	0.000002	D	0.99230	0.9732	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99297	1.0900	10	0.87932	D	0	-37.0432	18.4869	0.90833	0.0:0.0:1.0:0.0	.	60	Q00978	IRF9_HUMAN	N	60	ENSP00000380073:K60N	ENSP00000380073:K60N	K	+	3	2	IRF9	23701373	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.068000	0.93961	2.664000	0.90586	0.655000	0.94253	AAG		0.532	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2		Missense_Mutation	19	70	1	0	2.5808e-16	0.006122	3.41597e-16	19	70				
KHNYN	23351	broad.mit.edu	37	14	24901483	24901483	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:24901483G>T	ENST00000251343.5	+	3	1155	c.1016G>T	c.(1015-1017)cGa>cTa	p.R339L	KHNYN_ENST00000553935.1_Missense_Mutation_p.R339L|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.R339L			O15037	KHNYN_HUMAN	KH and NYN domain containing	339							RNA binding (GO:0003723)	p.R339L(2)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCTCAGTCCCGAGGAGCCTCC	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001wph.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)	3						c.(1015-1017)CGA>CTA		hypothetical protein LOC23351							53.0	59.0	57.0					14																	24901483		2203	4299	6502	SO:0001583	missense	23351							g.chr14:24901483G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1016G>T	14.37:g.24901483G>T	ENSP00000251343:p.Arg339Leu		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_Missense_Mutation_p.R380L|KHNYN_uc010alw.2_Missense_Mutation_p.R339L|CBLN3_uc001wpg.3_5'Flank	p.R339L	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	1218	+			339					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.1016G>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404068	0.42613	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.24538	1.85;1.85;1.85	5.06	5.06	0.68205	.	0.799723	0.11684	N	0.539578	T	0.26521	0.0648	L	0.27053	0.805	0.80722	D	1	P;P	0.48694	0.914;0.914	P;P	0.49332	0.607;0.607	T	0.01301	-1.1391	10	0.17369	T	0.5	.	13.9208	0.63930	0.0:0.0:1.0:0.0	.	380;339	D3DS77;O15037	.;KHNYN_HUMAN	L	339	ENSP00000251343:R339L;ENSP00000451106:R339L;ENSP00000450799:R339L	ENSP00000251343:R339L	R	+	2	0	KHNYN	23971323	0.998000	0.40836	0.999000	0.59377	0.377000	0.30045	4.021000	0.57196	2.351000	0.79841	0.462000	0.41574	CGA		0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			41	61	1	0	3.05275e-18	0.013114	4.08157e-18	41	61				
NOVA1	4857	broad.mit.edu	37	14	26917884	26917884	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:26917884C>G	ENST00000539517.2	-	5	1122	c.805G>C	c.(805-807)Gga>Cga	p.G269R	NOVA1_ENST00000465357.2_Missense_Mutation_p.G245R|NOVA1_ENST00000267422.7_Missense_Mutation_p.G147R	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	272					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G269R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TAAGGAGATCCGGTTGGATTG	0.483																																							uc001wpy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(805-807)GGA>CGA		neuro-oncological ventral antigen 1 isoform 1							156.0	141.0	146.0					14																	26917884		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917884C>G	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.805G>C	14.37:g.26917884C>G	ENSP00000438875:p.Gly269Arg					NOVA1_uc001wpz.2_Missense_Mutation_p.G245R|NOVA1_uc001wqa.2_Missense_Mutation_p.G147R	p.G269R	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1123	-			272					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.805G>C	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935780	0.73442	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.43688	1.09;1.0;0.94;1.2	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.65842	0.2730	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.66212	-0.5980	10	0.66056	D	0.02	-15.0239	19.8956	0.96956	0.0:1.0:0.0:0.0	.	272;245;269	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	R	245;269;147;228	ENSP00000447391:G245R;ENSP00000438875:G269R;ENSP00000267422:G147R;ENSP00000408914:G228R	ENSP00000267422:G147R	G	-	1	0	NOVA1	25987724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.708000	0.92522	0.563000	0.77884	GGA		0.483	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		14	64	0	0	0	0.003163	0	14	64				
NPAS3	64067	broad.mit.edu	37	14	34269356	34269356	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:34269356C>G	ENST00000356141.4	+	12	1843	c.1843C>G	c.(1843-1845)Cgg>Ggg	p.R615G	NPAS3_ENST00000357798.5_Missense_Mutation_p.R602G|NPAS3_ENST00000551492.1_Missense_Mutation_p.R620G|NPAS3_ENST00000346562.2_Missense_Mutation_p.R583G|NPAS3_ENST00000548645.1_Missense_Mutation_p.R585G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	615					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R602G(1)|p.R583G(1)|p.R615G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CGCCAGCCGCCGGCGCCTGTC	0.721																																							uc001wru.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(1843-1845)CGG>GGG		neuronal PAS domain protein 3 isoform 3							7.0	9.0	8.0					14																	34269356		2088	4058	6146	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269356C>G	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1843C>G	14.37:g.34269356C>G	ENSP00000348460:p.Arg615Gly					NPAS3_uc001wrs.2_Missense_Mutation_p.R602G|NPAS3_uc001wrt.2_Missense_Mutation_p.R583G|NPAS3_uc001wrv.2_Missense_Mutation_p.R585G	p.R615G	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	1907	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		615					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1843C>G	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646327	0.67358	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71341	-0.56;3.25;3.25;3.25;3.25;3.11	4.91	3.01	0.34805	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.32396	0.369;0.253;0.369;0.369	B;B;B;B	0.28991	0.097;0.06;0.097;0.097	T	0.39722	-0.9600	10	0.30078	T	0.28	.	12.9327	0.58296	0.61:0.39:0.0:0.0	.	585;615;583;602	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	G	589;620;583;585;615;602	ENSP00000448373:R589G;ENSP00000450392:R620G;ENSP00000319610:R583G;ENSP00000448916:R585G;ENSP00000348460:R615G;ENSP00000350446:R602G	ENSP00000319610:R583G	R	+	1	2	NPAS3	33339107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.241000	0.43097	0.424000	0.26061	0.555000	0.69702	CGG		0.721	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			8	15	0	0	0	0.004482	0	8	15				
CLEC14A	161198	broad.mit.edu	37	14	38724115	38724115	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:38724115G>T	ENST00000342213.2	-	1	1459	c.1113C>A	c.(1111-1113)acC>acA	p.T371T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	371						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.T371T(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCCTGATGGGGTGATAGTGG	0.488																																							uc001wum.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1111-1113)ACC>ACA		C-type lectin domain family 14, member A							84.0	69.0	74.0					14																	38724115		2203	4300	6503	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724115G>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1113C>A	14.37:g.38724115G>T							p.T371T	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1460	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		371			Extracellular (Potential).		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.1113C>A	CCDS9667.1																																																																																				0.488	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		9	45	1	0	1.76689e-08	0.006214	2.10981e-08	9	45				
LRFN5	145581	broad.mit.edu	37	14	42355849	42355849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:42355849T>A	ENST00000298119.4	+	3	1210	c.21T>A	c.(19-21)taT>taA	p.Y7*	LRFN5_ENST00000554171.1_Nonsense_Mutation_p.Y7*|LRFN5_ENST00000554120.1_Nonsense_Mutation_p.Y7*	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	7						integral component of membrane (GO:0016021)		p.Y7*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTTTTTTATCTGTTTCTCA	0.363										HNSCC(30;0.082)																													uc001wvm.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(19-21)TAT>TAA		leucine rich repeat and fibronectin type III							54.0	54.0	54.0					14																	42355849		2203	4300	6503	SO:0001587	stop_gained	145581					integral to membrane		g.chr14:42355849T>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.21T>A	14.37:g.42355849T>A	ENSP00000298119:p.Tyr7*	HNSCC(30;0.082)				LRFN5_uc010ana.2_Nonsense_Mutation_p.Y7*	p.Y7*	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1219	+			7					B3KU78|Q86XL2	Nonsense_Mutation	SNP	ENST00000298119.4	37	c.21T>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	44	11.191974	0.99528	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	.	.	.	5.56	2.43	0.29744	.	0.275744	0.26345	N	0.024906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0166	0.30385	0.0:0.2574:0.0:0.7426	.	.	.	.	X	7	.	ENSP00000298119:Y7X	Y	+	3	2	LRFN5	41425599	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.285000	0.33261	0.730000	0.32425	0.528000	0.53228	TAT		0.363	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		6	15	0	0	0	0.001984	0	6	15				
KLHL28	54813	broad.mit.edu	37	14	45415050	45415050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:45415050G>C	ENST00000396128.4	-	2	201	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	KLHL28_ENST00000355081.2_Missense_Mutation_p.L42V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	28								p.L28V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTGGCGAAGAAGATTCAAG	0.433																																							uc001wvq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)CTT>GTT		BTB (POZ) domain containing 5							97.0	88.0	91.0					14																	45415050		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45415050G>C	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.82C>G	14.37:g.45415050G>C	ENSP00000379434:p.Leu28Val					KLHL28_uc001wvr.2_Missense_Mutation_p.L28V|KLHL28_uc001wvt.3_Missense_Mutation_p.L28V	p.L28V	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			2	328	-			28					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.82C>G	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260043	0.59321	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500;ENST00000556239;ENST00000557468	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;1.65	5.5	5.5	0.81552	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89969	0.6869	M	0.93808	3.46	0.46901	D	0.999244	D;P	0.71674	0.998;0.58	D;B	0.69824	0.966;0.22	D	0.91902	0.5532	10	0.72032	D	0.01	.	19.362	0.94445	0.0:0.0:1.0:0.0	.	28;28	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	V	28;42;28;28;28	ENSP00000379434:L28V;ENSP00000347193:L42V;ENSP00000452061:L28V;ENSP00000452591:L28V;ENSP00000450788:L28V	ENSP00000347193:L42V	L	-	1	0	KLHL28	44484800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.332000	0.59279	2.751000	0.94390	0.650000	0.86243	CTT		0.433	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			4	34	0	0	0	0.009096	0	4	34				
FANCM	57697	broad.mit.edu	37	14	45644332	45644332	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:45644332C>G	ENST00000267430.5	+	14	2460	c.2375C>G	c.(2374-2376)tCa>tGa	p.S792*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.S766*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	792					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.S792*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATGTTACCTCAACATTTATT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(2374-2376)TCA>TGA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							82.0	83.0	82.0					14																	45644332		2203	4299	6502	SO:0001587	stop_gained	57697	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45644332C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2375C>G	14.37:g.45644332C>G	ENSP00000267430:p.Ser792*					FANCM_uc010anf.2_Nonsense_Mutation_p.S766*|FANCM_uc001wwe.3_Nonsense_Mutation_p.S328*|FANCM_uc010ang.2_Nonsense_Mutation_p.S6*	p.S792*	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			14	2474	+			792					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	ENST00000267430.5	37	c.2375C>G	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543707	0.96474	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	.	.	.	5.09	4.19	0.49359	.	1.001750	0.08049	N	0.996428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.9075	0.47088	0.0:0.9076:0.0:0.0924	.	.	.	.	X	792;766;308	.	ENSP00000267430:S792X	S	+	2	0	FANCM	44714082	0.002000	0.14202	0.018000	0.16275	0.321000	0.28281	1.240000	0.32731	2.501000	0.84356	0.591000	0.81541	TCA		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	24	0	0	0	0.001984	0	6	24				
NIN	51199	broad.mit.edu	37	14	51226916	51226916	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:51226916G>C	ENST00000382041.3	-	17	2248	c.2058C>G	c.(2056-2058)ctC>ctG	p.L686L	NIN_ENST00000389868.3_Silent_p.L686L|NIN_ENST00000324330.9_Silent_p.L686L|NIN_ENST00000453196.1_Silent_p.L686L|NIN_ENST00000245441.5_Silent_p.L686L|NIN_ENST00000530997.2_Silent_p.L686L|NIN_ENST00000382043.4_Silent_p.L686L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	686					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTGCCTCCTTGAGCACTGCTG	0.458			T	PDGFRB	MPD																																		uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(2056-2058)CTC>CTG		ninein isoform 5							121.0	118.0	119.0					14																	51226916		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51226916G>C	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2058C>G	14.37:g.51226916G>C						NIN_uc001wyi.2_Silent_p.L686L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.L686L|NIN_uc010tqp.1_Silent_p.L692L|NIN_uc001wyo.2_Silent_p.L686L	p.L686L	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			17	2249	-	all_epithelial(31;0.00244)|Breast(41;0.127)		686			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.2058C>G	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.326056	0.01309	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.93	-1.31	0.09230	.	.	.	.	.	T	0.21267	0.0512	.	.	.	0.24806	N	0.992674	.	.	.	.	.	.	T	0.27297	-1.0078	4	.	.	.	-2.4935	3.1523	0.06492	0.1479:0.2346:0.4383:0.1792	.	.	.	.	E	177	.	.	Q	-	1	0	NIN	50296666	0.995000	0.38212	0.670000	0.29842	0.018000	0.09664	0.170000	0.16663	-0.127000	0.11661	-0.216000	0.12614	CAA		0.458	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		7	178	0	0	0	0.001984	0	7	178				
PTGER2	5732	broad.mit.edu	37	14	52781297	52781297	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:52781297G>A	ENST00000245457.5	+	1	185	c.31G>A	c.(31-33)Gag>Aag	p.E11K	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	11					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.E11K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTCCCAGTCTGAGGACTGCGA	0.627																																							uc001wzr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(31-33)GAG>AAG		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						20.0	24.0	22.0					14																	52781297		2202	4292	6494	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781297G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.31G>A	14.37:g.52781297G>A	ENSP00000245457:p.Glu11Lys						p.E11K	NM_000956	NP_000947	P43116	PE2R2_HUMAN			1	282	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		11			Extracellular (Potential).		D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.31G>A	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684328	0.47991	.	.	ENSG00000125384	ENST00000245457	D	0.83914	-1.78	5.13	1.99	0.26369	.	0.631054	0.16931	N	0.193651	T	0.72503	0.3468	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.54410	-0.8298	10	0.22109	T	0.4	-5.3453	4.3005	0.10922	0.0916:0.1978:0.5625:0.1482	.	11	P43116	PE2R2_HUMAN	K	11	ENSP00000245457:E11K	ENSP00000245457:E11K	E	+	1	0	PTGER2	51851047	0.511000	0.26179	0.063000	0.19743	0.385000	0.30292	1.241000	0.32743	1.191000	0.43056	0.484000	0.47621	GAG		0.627	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			7	81	0	0	0	0.00308	0	7	81				
DACT1	51339	broad.mit.edu	37	14	59112366	59112366	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:59112366T>A	ENST00000335867.4	+	4	1049	c.1025T>A	c.(1024-1026)aTt>aAt	p.I342N	DACT1_ENST00000541264.2_Missense_Mutation_p.I61N|DACT1_ENST00000556859.1_Missense_Mutation_p.I61N|DACT1_ENST00000395153.3_Missense_Mutation_p.I305N			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	342					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.I342N(2)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GATGGCTACATTCTGAGCCTG	0.517																																							uc001xdw.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1024-1026)ATT>AAT		dapper 1 isoform 1							76.0	61.0	66.0					14																	59112366		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112366T>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1025T>A	14.37:g.59112366T>A	ENSP00000337439:p.Ile342Asn					DACT1_uc010trv.1_Missense_Mutation_p.I61N|DACT1_uc001xdx.2_Missense_Mutation_p.I305N|DACT1_uc010trw.1_Missense_Mutation_p.I61N	p.I342N	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1189	+			342					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1025T>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026575	0.75390	.	.	ENSG00000165617	ENST00000556859;ENST00000421793;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87587	0.2488	10	0.87932	D	0	-10.9551	15.8006	0.78450	0.0:0.0:0.0:1.0	.	305;342	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	N	61;61;61;305;342;61	ENSP00000451598:I61N;ENSP00000404297:I61N;ENSP00000378581:I61N;ENSP00000378582:I305N;ENSP00000337439:I342N;ENSP00000442850:I61N	ENSP00000337439:I342N	I	+	2	0	DACT1	58182119	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.396000	0.79891	2.144000	0.66660	0.460000	0.39030	ATT		0.517	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		31	26	0	0	0	0.008361	0	31	26				
MNAT1	4331	broad.mit.edu	37	14	61201638	61201638	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:61201638A>T	ENST00000261245.4	+	1	159	c.58A>T	c.(58-60)Aag>Tag	p.K20*	MNAT1_ENST00000539616.2_Nonsense_Mutation_p.K20*|MNAT1_ENST00000555545.1_3'UTR	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	20					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)	p.K20*(1)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CCCCTCCTTGAAGCTGATGGT	0.602								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																															uc001xfd.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(58-60)AAG>TAG	Direct_reversal_of_damage|NER	menage a trois 1 (CAK assembly factor)							108.0	85.0	92.0					14																	61201638		2203	4300	6503	SO:0001587	stop_gained	4331				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	g.chr14:61201638A>T	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.58A>T	14.37:g.61201638A>T	ENSP00000261245:p.Lys20*					MNAT1_uc010apq.1_Nonsense_Mutation_p.K20*|MNAT1_uc001xfe.2_Nonsense_Mutation_p.K20*	p.K20*	NM_002431	NP_002422	P51948	MAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0174)	1	169	+			20			RING-type.		G3V1U8|Q15817|Q6ICQ7	Nonsense_Mutation	SNP	ENST00000261245.4	37	c.58A>T	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	A	38	7.284695	0.98186	.	.	ENSG00000020426	ENST00000261245;ENST00000539616	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.6915	15.5516	0.76158	1.0:0.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000261245:K20X	K	+	1	0	MNAT1	60271391	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.180000	0.89694	2.158000	0.67659	0.528000	0.53228	AAG		0.602	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		12	74	0	0	0	0.010729	0	12	74				
KIAA0247	9766	broad.mit.edu	37	14	70170156	70170156	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:70170156C>T	ENST00000342745.4	+	3	479	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	56	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.H56Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CTACATCTGCCACCCCCGGCC	0.572																																							uc001xlk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(166-168)CAC>TAC		hypothetical protein LOC9766 precursor							75.0	76.0	75.0					14																	70170156		2203	4300	6503	SO:0001583	missense	9766					integral to membrane		g.chr14:70170156C>T	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.166C>T	14.37:g.70170156C>T	ENSP00000344424:p.His56Tyr					KIAA0247_uc010aqz.2_Missense_Mutation_p.H31Y	p.H56Y	NM_014734	NP_055549	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	3	482	+			56			Sushi.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342745.4	37	c.166C>T	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231894	0.95207	.	.	ENSG00000100647	ENST00000342745	T	0.63580	-0.05	5.9	5.9	0.94986	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82153	-0.0598	10	0.87932	D	0	-16.6784	20.2631	0.98458	0.0:1.0:0.0:0.0	.	56	Q92537	K0247_HUMAN	Y	56	ENSP00000344424:H56Y	ENSP00000344424:H56Y	H	+	1	0	KIAA0247	69239909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.788000	0.95919	0.655000	0.94253	CAC		0.572	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		15	155	0	0	0	0.003163	0	15	155				
MAP3K9	4293	broad.mit.edu	37	14	71199455	71199455	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:71199455G>C	ENST00000554752.2	-	11	2630	c.2631C>G	c.(2629-2631)caC>caG	p.H877Q	MAP3K9_ENST00000555993.2_Missense_Mutation_p.H891Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.H854Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.H605Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.H610Q	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	877	Pro-rich.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCAGGGGGTTGTGGGTACATG	0.592																																					GBM(114;411 1587 13539 28235 50070)	GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NA																	0				stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(2629-2631)CAC>CAG		mitogen-activated protein kinase kinase kinase							98.0	104.0	102.0					14																	71199455		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71199455G>C	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2631C>G	14.37:g.71199455G>C	ENSP00000451612:p.His877Gln					MAP3K9_uc010ttk.1_Missense_Mutation_p.H605Q|MAP3K9_uc001xmk.2_Missense_Mutation_p.H610Q|MAP3K9_uc001xml.2_Missense_Mutation_p.H891Q	p.H877Q	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	11	2631	-			877			Pro-rich.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.2631C>G		.	.	.	.	.	.	.	.	.	.	G	2.655	-0.281152	0.05642	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.72725	-0.68;-0.65;-0.68;-0.64	4.77	2.87	0.33458	.	0.662191	0.15827	N	0.242684	T	0.40570	0.1122	N	0.08118	0	0.21105	N	0.999784	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.0;0.0;0.0;0.004	T	0.12426	-1.0548	10	0.13853	T	0.58	.	1.2053	0.01893	0.2241:0.1717:0.4289:0.1752	.	605;877;891;610	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Q	877;891;610;854;605;593	ENSP00000451612:H877Q;ENSP00000451038:H610Q;ENSP00000370649:H854Q;ENSP00000451921:H605Q	ENSP00000005198:H891Q	H	-	3	2	MAP3K9	70269208	0.897000	0.30589	0.998000	0.56505	0.829000	0.46940	0.262000	0.18460	1.209000	0.43321	0.561000	0.74099	CAC		0.592	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	169	0	0	0	0.000602	0	4	169				
MAP3K9	4293	broad.mit.edu	37	14	71227747	71227747	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:71227747T>A	ENST00000554752.2	-	3	972	c.973A>T	c.(973-975)Atg>Ttg	p.M325L	MAP3K9_ENST00000555993.2_Missense_Mutation_p.M325L|MAP3K9_ENST00000381250.4_Missense_Mutation_p.M325L|MAP3K9_ENST00000554146.1_Missense_Mutation_p.M62L|MAP3K9_ENST00000553414.1_Missense_Mutation_p.M19L	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.M325L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGAAAACATGGAGGCCCGG	0.557																																					GBM(114;411 1587 13539 28235 50070)	GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(973-975)ATG>TTG		mitogen-activated protein kinase kinase kinase							167.0	147.0	154.0					14																	71227747		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71227747T>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.973A>T	14.37:g.71227747T>A	ENSP00000451612:p.Met325Leu					MAP3K9_uc010ttk.1_Missense_Mutation_p.M62L|MAP3K9_uc001xmk.2_Missense_Mutation_p.M19L|MAP3K9_uc001xml.2_Missense_Mutation_p.M325L	p.M325L	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	3	973	-			325			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.973A>T		.	.	.	.	.	.	.	.	.	.	T	7.234	0.599971	0.13939	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.089056	0.85682	D	0.000000	T	0.59905	0.2228	N	0.04746	-0.17	0.29202	N	0.875173	B;B;B;B	0.13145	0.0;0.0;0.002;0.007	B;B;B;B	0.12156	0.004;0.007;0.007;0.007	T	0.39981	-0.9587	10	0.02654	T	1	.	15.3621	0.74487	0.0:0.0:0.0:1.0	.	62;325;325;19	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	L	325;325;19;325;62;53	ENSP00000451612:M325L;ENSP00000451038:M19L;ENSP00000370649:M325L;ENSP00000451921:M62L	ENSP00000005198:M325L	M	-	1	0	MAP3K9	70297500	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.957000	0.40392	2.223000	0.72356	0.455000	0.32223	ATG		0.557	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			81	71	0	0	0	0.01441	0	81	71				
DPF3	8110	broad.mit.edu	37	14	73190390	73190390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:73190390T>C	ENST00000556509.1	-	5	475	c.476A>G	c.(475-477)gAg>gGg	p.E159G	DPF3_ENST00000541685.1_Missense_Mutation_p.E159G|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.E169G	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	159					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.E159G(4)|p.E158G(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCCAAATCCTCTTCTTCATT	0.418																																							uc001xnc.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)	1						c.(475-477)GAG>GGG		D4, zinc and double PHD fingers, family 3							252.0	250.0	251.0					14																	73190390		1870	4111	5981	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73190390T>C	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.476A>G	14.37:g.73190390T>C	ENSP00000450518:p.Glu159Gly					DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.E159G|DPF3_uc010ttq.1_Missense_Mutation_p.E169G	p.E159G	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	5	489	-			159					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.476A>G		.	.	.	.	.	.	.	.	.	.	T	25.0	4.592286	0.86953	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91464	-2.85;-0.33;-0.32	5.07	5.07	0.68467	.	.	.	.	.	D	0.93536	0.7937	L	0.60067	1.865	0.58432	D	0.999999	D;D;B	0.54772	0.968;0.968;0.231	D;P;B	0.63793	0.918;0.763;0.055	D	0.94257	0.7499	9	0.87932	D	0	.	14.8682	0.70434	0.0:0.0:0.0:1.0	.	169;159;159	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	G	159;159;158;159;169	ENSP00000450518:E159G;ENSP00000441640:E159G;ENSP00000444662:E169G	ENSP00000381791:E214G	E	-	2	0	DPF3	72260143	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.808000	0.69165	1.918000	0.55548	0.459000	0.35465	GAG		0.418	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			116	115	0	0	0	0.01441	0	116	115				
YLPM1	56252	broad.mit.edu	37	14	75265292	75265292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:75265292C>T	ENST00000325680.7	+	5	3416	c.3292C>T	c.(3292-3294)Caa>Taa	p.Q1098*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q903*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	903	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Q1098*(2)|p.Q903*(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGTGGTCTTCAAGGGAGCCA	0.602																																							uc001xqj.3		NA																	4	Substitution - Nonsense(4)		lung(4)	ovary(2)|pancreas(1)	3						c.(3292-3294)CAA>TAA		YLP motif containing 1							57.0	67.0	64.0					14																	75265292		1949	4149	6098	SO:0001587	stop_gained	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265292C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3292C>T	14.37:g.75265292C>T	ENSP00000324463:p.Gln1098*					YLPM1_uc001xql.3_RNA	p.Q1098*	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3416	+			903			Arg-rich.		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000325680.7	37	c.3292C>T	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679428	0.88542	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.78	4.88	0.63580	.	0.413450	0.23180	N	0.051029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-6.119	6.1245	0.20172	0.1107:0.6139:0.1948:0.0806	.	.	.	.	X	1098;903;811	.	ENSP00000238571:Q903X	Q	+	1	0	YLPM1	74335045	0.003000	0.15002	1.000000	0.80357	0.937000	0.57800	-0.584000	0.05800	2.746000	0.94184	0.643000	0.83706	CAA		0.602	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		49	42	0	0	0	0.01441	0	49	42				
NEK9	91754	broad.mit.edu	37	14	75563845	75563845	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:75563845G>A	ENST00000238616.5	-	17	2289	c.2131C>T	c.(2131-2133)Ccg>Tcg	p.P711S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	711					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.P711S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GACAGGTCCGGGACATGATGC	0.522																																							uc001xrl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(2)|ovary(1)	5						c.(2131-2133)CCG>TCG		NIMA-related kinase 9							89.0	76.0	80.0					14																	75563845		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75563845G>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2131C>T	14.37:g.75563845G>A	ENSP00000238616:p.Pro711Ser					NEK9_uc001xrk.2_Missense_Mutation_p.P211S	p.P711S	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	17	2285	-			711			RCC1 6.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.2131C>T	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253555	0.59212	.	.	ENSG00000119638	ENST00000238616	T	0.79940	-1.32	5.72	5.72	0.89469	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.052755	0.85682	D	0.000000	T	0.70298	0.3208	N	0.14661	0.345	0.48511	D	0.999663	B;P	0.45715	0.147;0.865	B;B	0.43478	0.021;0.421	T	0.72906	-0.4150	10	0.44086	T	0.13	.	15.0218	0.71635	0.0:0.0:0.8577:0.1423	.	711;54	Q8TD19;Q6PKF2	NEK9_HUMAN;.	S	711	ENSP00000238616:P711S	ENSP00000238616:P711S	P	-	1	0	NEK9	74633598	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.641000	0.74324	2.850000	0.98022	0.650000	0.86243	CCG		0.522	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		10	83	0	0	0	0.006214	0	10	83				
TTLL5	23093	broad.mit.edu	37	14	76211508	76211508	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76211508C>T	ENST00000298832.9	+	16	1557	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	TTLL5_ENST00000556893.1_5'UTR|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.P465L|TTLL5_ENST00000554510.1_5'Flank	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	451					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.P451L(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAGAAAGGGCCAGGGAAGTTG	0.453																																							uc001xrx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1351-1353)CCA>CTA		tubulin tyrosine ligase-like family, member 5							136.0	141.0	140.0					14																	76211508		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76211508C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1352C>T	14.37:g.76211508C>T	ENSP00000298832:p.Pro451Leu					TTLL5_uc010ask.1_Missense_Mutation_p.P465L|TTLL5_uc001xrz.2_Missense_Mutation_p.P13L|TTLL5_uc001xry.1_RNA	p.P451L	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	16	1557	+			451					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.1352C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346202	0.61073	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832	T;T	0.03301	3.98;4.04	6.02	5.13	0.70059	.	0.696518	0.15018	N	0.285164	T	0.05318	0.0141	L	0.40543	1.245	0.80722	D	1	B;B	0.19706	0.038;0.022	B;B	0.22386	0.039;0.017	T	0.32402	-0.9908	10	0.54805	T	0.06	.	13.1159	0.59299	0.0:0.9254:0.0:0.0746	.	465;451	G3V2J9;Q6EMB2	.;TTLL5_HUMAN	L	138;465;451	ENSP00000450713:P465L;ENSP00000298832:P451L	ENSP00000298832:P451L	P	+	2	0	TTLL5	75281261	0.136000	0.22515	0.998000	0.56505	0.979000	0.70002	1.445000	0.35079	1.550000	0.49438	0.655000	0.94253	CCA		0.453	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		21	31	0	0	0	0.012319	0	21	31				
TTLL5	23093	broad.mit.edu	37	14	76243112	76243112	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76243112A>G	ENST00000298832.9	+	23	2511	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	TTLL5_ENST00000556893.1_Missense_Mutation_p.K320R|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.K783R|TTLL5_ENST00000554510.1_Missense_Mutation_p.K278R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	769					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.K769R(2)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGGCTGAAAAGAAATCAAAG	0.378																																							uc001xrx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(2305-2307)AAG>AGG		tubulin tyrosine ligase-like family, member 5							105.0	105.0	105.0					14																	76243112		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76243112A>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2306A>G	14.37:g.76243112A>G	ENSP00000298832:p.Lys769Arg					TTLL5_uc010ask.1_Missense_Mutation_p.K783R|TTLL5_uc001xrz.2_Missense_Mutation_p.K344R|TTLL5_uc001xry.1_RNA	p.K769R	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	23	2511	+			769					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.2306A>G	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.517028	0.64634	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.27104	3.8;3.88;1.69;1.7	5.2	4.04	0.47022	.	0.392244	0.30277	N	0.009999	T	0.42854	0.1221	M	0.63428	1.95	0.30049	N	0.811959	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.81914	0.995;0.991;0.985	T	0.36672	-0.9738	10	0.33141	T	0.24	.	8.9143	0.35572	0.9132:0.0:0.0868:0.0	.	783;320;769	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	R	456;783;769;320;320;278	ENSP00000450713:K783R;ENSP00000298832:K769R;ENSP00000452524:K320R;ENSP00000451946:K278R	ENSP00000298832:K769R	K	+	2	0	TTLL5	75312865	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.810000	0.38932	0.924000	0.37069	0.460000	0.39030	AAG		0.378	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		30	20	0	0	0	0.010818	0	30	20				
ESRRB	2103	broad.mit.edu	37	14	76966335	76966335	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:76966335C>A	ENST00000509242.1	+	9	1524	c.1426C>A	c.(1426-1428)Cgc>Agc	p.R476S	RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000380887.2_Missense_Mutation_p.R476S|ESRRB_ENST00000261532.7_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	476					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R476S(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCCAATCCACGCCCTTCTAG	0.537																																							uc001xsr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1426-1428)CGC>AGC		estrogen-related receptor beta							97.0	94.0	95.0					14																	76966335		692	1591	2283	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76966335C>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1426C>A	14.37:g.76966335C>A	ENSP00000422488:p.Arg476Ser					ESRRB_uc001xso.2_RNA	p.R476S	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	10	1797	+			476					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.1426C>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	4.223	0.040153	0.08148	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000380887	D;D;D	0.92699	-3.02;-3.09;-3.09	2.09	-4.1	0.03940	.	19.385600	0.00166	N	0.000000	T	0.79082	0.4386	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71567	-0.4554	10	0.14656	T	0.56	.	2.1572	0.03815	0.1646:0.4143:0.2839:0.1372	.	476	Q5F0P7	.	S	481;476;476	ENSP00000424992:R481S;ENSP00000422488:R476S;ENSP00000370270:R476S	ENSP00000370270:R476S	R	+	1	0	ESRRB	76036088	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.615000	0.24329	-1.122000	0.02945	-2.351000	0.00242	CGC		0.537	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			9	4	1	0	0.00448238	0.004482	0.00463893	9	4				
GPR65	8477	broad.mit.edu	37	14	88477258	88477258	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:88477258T>C	ENST00000267549.3	+	2	625	c.67T>C	c.(67-69)Ttt>Ctt	p.F23L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	23					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F23L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TGTTTACATCTTTGTGATTAT	0.358																																							uc001xvv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)TTT>CTT		G protein-coupled receptor 65							128.0	117.0	121.0					14																	88477258		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477258T>C	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.67T>C	14.37:g.88477258T>C	ENSP00000267549:p.Phe23Leu						p.F23L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	597	+			23			Helical; Name=1; (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.67T>C	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248815	0.22880	.	.	ENSG00000140030	ENST00000267549	T	0.33865	1.39	5.82	-5.97	0.02227	.	0.925703	0.09020	N	0.860261	T	0.18341	0.0440	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42172	-0.9467	10	0.02654	T	1	.	5.1331	0.14921	0.6075:0.0617:0.1725:0.1582	.	23	Q8IYL9	PSYR_HUMAN	L	23	ENSP00000267549:F23L	ENSP00000267549:F23L	F	+	1	0	GPR65	87547011	0.000000	0.05858	0.021000	0.16686	0.954000	0.61252	-0.287000	0.08388	-0.871000	0.04042	0.528000	0.53228	TTT		0.358	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			3	39	0	0	0	0.004672	0	3	39				
CPSF2	53981	broad.mit.edu	37	14	92609541	92609541	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:92609541A>T	ENST00000298875.4	+	9	1328	c.1043A>T	c.(1042-1044)gAc>gTc	p.D348V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	348					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.D348V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGGTGTCAGGACCCTAAAAAC	0.423																																					Ovarian(78;28 1788 18702 44111)	Ovarian(78;28 1788 18702 44111)	uc001yah.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1042-1044)GAC>GTC		cleavage and polyadenylation specific factor 2							90.0	82.0	84.0					14																	92609541		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92609541A>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1043A>T	14.37:g.92609541A>T	ENSP00000298875:p.Asp348Val						p.D348V	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	9	1280	+		all_cancers(154;0.0766)	348					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.1043A>T	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204557	0.79127	.	.	ENSG00000165934	ENST00000298875	T	0.54479	0.57	4.99	4.99	0.66335	Beta-Casp domain (1);	0.046752	0.85682	D	0.000000	T	0.70868	0.3273	M	0.81614	2.55	0.80722	D	1	P	0.50528	0.936	P	0.59424	0.857	T	0.76271	-0.3020	10	0.87932	D	0	.	15.0003	0.71466	1.0:0.0:0.0:0.0	.	348	Q9P2I0	CPSF2_HUMAN	V	348	ENSP00000298875:D348V	ENSP00000298875:D348V	D	+	2	0	CPSF2	91679294	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	9.172000	0.94808	1.996000	0.58369	0.402000	0.26972	GAC		0.423	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			5	22	0	0	0	0.000602	0	5	22				
UNC79	57578	broad.mit.edu	37	14	94083525	94083525	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94083525C>A	ENST00000393151.2	+	28	4099	c.4099C>A	c.(4099-4101)Ctc>Atc	p.L1367I	UNC79_ENST00000555664.1_Missense_Mutation_p.L1367I|UNC79_ENST00000553484.1_Missense_Mutation_p.L1389I|UNC79_ENST00000256339.4_Missense_Mutation_p.L1190I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1367					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1190I(2)|p.L1389I(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGTTCAGGTGCTCAAATACTG	0.433																																							uc001ybv.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(10)|skin(4)|large_intestine(3)	17						c.(3634-3636)CTC>ATC		hypothetical protein LOC57578							115.0	110.0	112.0					14																	94083525		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94083525C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4099C>A	14.37:g.94083525C>A	ENSP00000376858:p.Leu1367Ile					KIAA1409_uc001ybs.1_Missense_Mutation_p.L1190I	p.L1212I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	26	3717	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1367					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3634C>A		.	.	.	.	.	.	.	.	.	.	C	18.88	3.718236	0.68844	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.37752	1.24;1.18;1.21;1.24	5.82	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	L	0.41573	1.285	0.34554	D	0.711599	D	0.61697	0.99	D	0.72982	0.979	T	0.55263	-0.8168	10	0.42905	T	0.14	-16.7001	11.5273	0.50586	0.0:0.8659:0.0:0.1341	.	1389	C9JQL1	.	I	1190;1367;1389;1367;1389	ENSP00000256339:L1190I;ENSP00000450868:L1367I;ENSP00000451360:L1389I;ENSP00000376858:L1367I	ENSP00000256339:L1190I	L	+	1	0	KIAA1409	93153278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.857000	0.39399	2.767000	0.95098	0.585000	0.79938	CTC		0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		12	54	1	0	1.61879e-10	0.013537	1.99532e-10	12	54				
UNC79	57578	broad.mit.edu	37	14	94083609	94083609	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94083609C>T	ENST00000393151.2	+	28	4183	c.4183C>T	c.(4183-4185)Cgg>Tgg	p.R1395W	UNC79_ENST00000555664.1_Missense_Mutation_p.R1395W|UNC79_ENST00000553484.1_Missense_Mutation_p.R1417W|UNC79_ENST00000256339.4_Missense_Mutation_p.R1218W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1395					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1218W(2)|p.R1417W(2)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCTCACATCCGGCAGATGTG	0.502																																							uc001ybv.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(10)|skin(4)|large_intestine(3)	17						c.(3718-3720)CGG>TGG		hypothetical protein LOC57578							91.0	85.0	87.0					14																	94083609		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94083609C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4183C>T	14.37:g.94083609C>T	ENSP00000376858:p.Arg1395Trp					KIAA1409_uc001ybs.1_Missense_Mutation_p.R1218W	p.R1240W	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	26	3801	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1395					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3718C>T		.	.	.	.	.	.	.	.	.	.	C	20.5	4.009152	0.75046	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.52	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.62723	1.935	0.42195	D	0.991748	D	0.89917	1.0	D	0.81914	0.995	T	0.71477	-0.4581	10	0.87932	D	0	-18.5601	13.6121	0.62086	0.4203:0.5797:0.0:0.0	.	1417	C9JQL1	.	W	1218;1395;1417;1395;1417	ENSP00000256339:R1218W;ENSP00000450868:R1395W;ENSP00000451360:R1417W;ENSP00000376858:R1395W	ENSP00000256339:R1218W	R	+	1	2	KIAA1409	93153362	0.975000	0.34042	1.000000	0.80357	0.987000	0.75469	0.635000	0.24629	0.756000	0.33013	0.585000	0.79938	CGG		0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		13	48	0	0	0	0.001855	0	13	48				
SERPINA9	327657	broad.mit.edu	37	14	94936017	94936017	+	Missense_Mutation	SNP	C	C	A	rs190620890		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:94936017C>A	ENST00000380365.3	-	2	239	c.161G>T	c.(160-162)cGc>cTc	p.R54L	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R72L|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.R72L			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	54					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R72L(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCGGTATAGGCGGAAGGCAAA	0.607																																							uc001ydf.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(1)|central_nervous_system(1)	2						c.(214-216)CGC>CTC		serine (or cysteine) proteinase inhibitor, clade							74.0	79.0	77.0					14																	94936017		2065	4213	6278	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936017C>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.161G>T	14.37:g.94936017C>A	ENSP00000369723:p.Arg54Leu					SERPINA9_uc001yde.2_Missense_Mutation_p.R72L|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.R72L|SERPINA9_uc001ydi.1_Intron	p.R72L	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	376	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	54					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.215G>T		.	.	.	.	.	.	.	.	.	.	C	10.58	1.388848	0.25118	.	.	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.88431	-2.38;-1.95;-1.95	3.99	-1.68	0.08212	Serpin domain (3);	1.052410	0.07533	N	0.912510	D	0.88496	0.6452	M	0.72576	2.205	0.46416	D	0.999031	B;B;D	0.58268	0.014;0.028;0.982	B;B;P	0.49012	0.059;0.035;0.598	T	0.82337	-0.0507	10	0.59425	D	0.04	.	5.1092	0.14800	0.1355:0.4661:0.0:0.3984	.	54;72;72	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	L	72;72;54	ENSP00000298845:R72L;ENSP00000337133:R72L;ENSP00000369723:R54L	ENSP00000298845:R72L	R	-	2	0	SERPINA9	94005770	0.000000	0.05858	0.983000	0.44433	0.532000	0.34746	-2.738000	0.00800	-0.318000	0.08665	-0.657000	0.03884	CGC		0.607	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		18	54	1	0	2.94398e-08	0.007413	3.5067e-08	18	54				
TCL6	27004	broad.mit.edu	37	14	96135898	96135899	+	RNA	DNP	AG	AG	TT	rs76461999		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:96135898_96135899AG>TT	ENST00000467865.1	+	0	1832_1833				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)									p.R10L(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gttagaagcaaggcacaagtca	0.51			T	TRA@	T-ALL																																		uc001yeq.2		NA		Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		1	Substitution - Missense(1)		lung(1)		0						c.(202-204)AGG>TTG		SubName: Full=T-cell leukemia/lymphoma 6 ORF163;																																						27004							g.chr14:96135898_96135899AG>TT	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979	Exception_encountered	14.37:g.96135898_96135899delinsTT						TCL6_uc001yep.1_RNA|TCL6_uc001yes.2_3'UTR|TCL6_uc001yet.1_Missense_Mutation_p.R10L|TCL6_uc001yeu.2_3'UTR|TCL6_uc001yev.2_3'UTR|TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_Intron|TCL6_uc010avk.1_5'Flank	p.R68L	NM_020554	NP_065579				Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	5	1671_1672	+		all_cancers(154;0.103)							Missense_Mutation	DNP	ENST00000467865.1	37	c.202_203AG>TT																																																																																					0.510	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		5	27	0	0	0	0.004672	0	5	27				
BCL11B	64919	broad.mit.edu	37	14	99642483	99642483	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:99642483G>A	ENST00000357195.3	-	4	699	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BCL11B_ENST00000443726.2_Silent_p.F36F|BCL11B_ENST00000345514.2_Silent_p.F159F	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	230					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACGCGCTGTTGAAGGGCTGCT	0.622			T	TLX3	T-ALL																																		uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(688-690)TTC>TTT		B-cell CLL/lymphoma 11B isoform 1							38.0	35.0	36.0					14																	99642483		2199	4298	6497	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99642483G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.690C>T	14.37:g.99642483G>A						BCL11B_uc001ygb.2_Silent_p.F159F	p.F230F	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	957	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	230			C2H2-type 1.		Q9H162	Silent	SNP	ENST00000357195.3	37	c.690C>T	CCDS9950.1																																																																																				0.622	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		8	27	0	0	0	0.00308	0	8	27				
AHNAK2	113146	broad.mit.edu	37	14	105408231	105408231	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105408231G>A	ENST00000333244.5	-	7	13676	c.13557C>T	c.(13555-13557)gaC>gaT	p.D4519D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						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)		p.D4519D(2)		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)			GGACCTCCAGGTCGGCGGAAG	0.622																																							uc010axc.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(13555-13557)GAC>GAT		AHNAK nucleoprotein 2							104.0	113.0	110.0					14																	105408231		1959	4141	6100	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105408231G>A	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.13557C>T	14.37:g.105408231G>A						AHNAK2_uc001ypx.2_Silent_p.D4419D	p.D4519D	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	13677	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4519					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.13557C>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		38	146	0	0	0	0.004289	0	38	146				
AHNAK2	113146	broad.mit.edu	37	14	105416868	105416868	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105416868C>G	ENST00000333244.5	-	7	5039	c.4920G>C	c.(4918-4920)ctG>ctC	p.L1640L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						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)		p.L1640L(2)		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)			GGTCCCCCTCCAGCTGCGCAC	0.602																																							uc010axc.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(4918-4920)CTG>CTC		AHNAK nucleoprotein 2							153.0	173.0	166.0					14																	105416868		1921	4082	6003	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416868C>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.4920G>C	14.37:g.105416868C>G						AHNAK2_uc001ypx.2_Silent_p.L1540L	p.L1640L	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	5040	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1640					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.4920G>C	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		58	239	0	0	0	0.01441	0	58	239				
AHNAK2	113146	broad.mit.edu	37	14	105419147	105419147	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:105419147G>T	ENST00000333244.5	-	7	2760	c.2641C>A	c.(2641-2643)Ctc>Atc	p.L881I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	881						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)		p.L881I(2)		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)			TGAATGCTGAGGTCAGTGGCC	0.652																																							uc010axc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2641-2643)CTC>ATC		AHNAK nucleoprotein 2							120.0	136.0	131.0					14																	105419147		1910	4107	6017	SO:0001583	missense	113146					nucleus		g.chr14:105419147G>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.2641C>A	14.37:g.105419147G>T	ENSP00000353114:p.Leu881Ile					AHNAK2_uc001ypx.2_Missense_Mutation_p.L781I	p.L881I	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	2761	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	881					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2641C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.73	2.324885	0.41197	.	.	ENSG00000185567	ENST00000333244	T	0.00644	6.01	4.16	-6.5	0.01884	.	.	.	.	.	T	0.00637	0.0021	L	0.45422	1.42	0.09310	N	1	B	0.22146	0.065	B	0.20577	0.03	T	0.39396	-0.9616	9	0.34782	T	0.22	-2.3906	8.0126	0.30361	0.0762:0.5927:0.2087:0.1224	.	881	Q8IVF2	AHNK2_HUMAN	I	881	ENSP00000353114:L881I	ENSP00000353114:L881I	L	-	1	0	AHNAK2	104490192	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-4.004000	0.00315	-0.765000	0.04645	0.491000	0.48974	CTC		0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		66	250	1	0	2.165e-29	0.01441	3.01398e-29	66	250				
OR4M2	390538	broad.mit.edu	37	15	22369243	22369243	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22369243C>A	ENST00000332663.2	+	1	766	c.668C>A	c.(667-669)gCc>gAc	p.A223D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A223D(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCCTTCTGGCCTTGTTCAAG	0.478																																							uc010tzu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(667-669)GCC>GAC		olfactory receptor, family 4, subfamily M,							386.0	262.0	304.0					15																	22369243		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369243C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.668C>A	15.37:g.22369243C>A	ENSP00000329467:p.Ala223Asp					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.A223D	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	668	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	223			Cytoplasmic (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.668C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	1.643	-0.516065	0.04200	.	.	ENSG00000182974	ENST00000332663	T	0.38077	1.16	2.5	-0.741	0.11112	GPCR, rhodopsin-like superfamily (1);	0.951214	0.08695	N	0.907247	T	0.32704	0.0838	M	0.63169	1.94	0.09310	N	1	B	0.29671	0.254	B	0.32583	0.148	T	0.39375	-0.9617	10	0.56958	D	0.05	-0.089	3.4057	0.07340	0.0:0.3805:0.2064:0.4131	.	223	Q8NGB6	OR4M2_HUMAN	D	223	ENSP00000329467:A223D	ENSP00000329467:A223D	A	+	2	0	OR4M2	19870607	0.000000	0.05858	0.275000	0.24674	0.199000	0.23934	-0.766000	0.04725	-0.315000	0.08703	-0.406000	0.06334	GCC		0.478	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			21	95	1	0	1.15919e-05	0.008871	1.28779e-05	21	95				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709206	22709206	+	RNA	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22709206G>A	ENST00000314246.8	-	0	1190				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CACCTCAGAGGGCACTGCTGG	0.512																																							uc010axw.2		NA																	0					0						c.(292-294)CCC>CTC		golgi autoantigen, golgin subfamily a, 8E																																						100132979							g.chr15:22709206G>A			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709206G>A						GOLGA8DP_uc010axx.2_Missense_Mutation_p.P98L|uc010tzw.1_5'Flank	p.P98L	NM_001012423	NP_001012423					11	1191	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.293C>T		.	.	.	.	.	.	.	.	.	.	G	4.491	0.091041	0.08632	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	0.887	0.19200	.	.	.	.	.	T	0.60353	0.2262	.	.	.	0.41234	D	0.986595	D	0.89917	1.0	D	0.91635	0.999	T	0.63386	-0.6649	6	0.22109	T	0.4	.	7.658	0.28386	0.0:0.0:1.0:0.0	.	98	F8WBT8	.	L	98;98;316	.	ENSP00000327024:P98L	P	-	2	0	AC116165.1	20260570	1.000000	0.71417	0.010000	0.14722	0.025000	0.11179	3.523000	0.53488	0.782000	0.33613	0.162000	0.16502	CCC		0.512	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		6	71	0	0	0	0.004482	0	6	71				
TUBGCP5	114791	broad.mit.edu	37	15	22855270	22855270	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:22855270C>G	ENST00000283645.4	+	13	1861	c.1731C>G	c.(1729-1731)agC>agG	p.S577R	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.S577R|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	577					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.S577R(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTGCGGAGAGCACCACCTGCC	0.557																																							uc001yur.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1729-1731)AGC>AGG		tubulin, gamma complex associated protein 5							41.0	36.0	38.0					15																	22855270		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22855270C>G	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1731C>G	15.37:g.22855270C>G	ENSP00000283645:p.Ser577Arg					TUBGCP5_uc001yuq.2_Missense_Mutation_p.S577R|TUBGCP5_uc010axz.1_Missense_Mutation_p.S164R	p.S577R	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	13	1861	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	577					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.1731C>G	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	C	9.314	1.056347	0.19907	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.08102	3.13;3.13	4.65	1.65	0.23941	.	0.907528	0.09743	N	0.761586	T	0.05227	0.0139	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.12156	0.007;0.007;0.007	T	0.46205	-0.9208	10	0.17832	T	0.49	0.0035	4.9439	0.13980	0.0:0.5537:0.1678:0.2785	.	577;577;577	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	R	577	ENSP00000283645:S577R;ENSP00000409217:S577R	ENSP00000283645:S577R	S	+	3	2	TUBGCP5	20406711	0.070000	0.21116	0.013000	0.15412	0.804000	0.45430	-0.008000	0.12788	0.644000	0.30656	0.655000	0.94253	AGC		0.557	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		4	20	0	0	0	0.009096	0	4	20				
PLA2G4E	123745	broad.mit.edu	37	15	42285002	42285002	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:42285002T>C	ENST00000399518.3	-	13	1889	c.1403A>G	c.(1402-1404)cAg>cGg	p.Q468R	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.Q439R	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	456	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GTAGCCTTCCTGGCTGCGCTG	0.607																																							uc001zow.1		NA																	0					0						c.(1315-1317)CAG>CGG		phospholipase A2, group 4E							48.0	51.0	50.0					15																	42285002		1916	4129	6045	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42285002T>C		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1403A>G	15.37:g.42285002T>C	ENSP00000382434:p.Gln468Arg					PLA2G4E_uc010udc.1_5'UTR|PLA2G4E_uc001zov.1_Missense_Mutation_p.Q92R	p.Q439R	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	12	1316	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	456			PLA2c.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.1316A>G	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	T	7.944	0.743439	0.15642	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04083	3.71;3.71	5.52	4.4	0.53042	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.233767	0.36002	N	0.002849	T	0.03348	0.0097	N	0.13352	0.335	0.27649	N	0.947464	B;B	0.18013	0.025;0.025	B;B	0.26094	0.066;0.066	T	0.43523	-0.9386	10	0.12766	T	0.61	-18.3331	10.4373	0.44443	0.0:0.0777:0.0:0.9223	.	439;456	C9JK77;Q3MJ16	.;PA24E_HUMAN	R	468;439	ENSP00000382434:Q468R;ENSP00000413897:Q439R	ENSP00000382434:Q468R	Q	-	2	0	PLA2G4E	40072294	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.025000	0.49681	0.933000	0.37291	0.533000	0.62120	CAG		0.607	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		3	58	0	0	0	0.004672	0	3	58				
DUOX2	50506	broad.mit.edu	37	15	45397883	45397883	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:45397883C>G	ENST00000603300.1	-	18	2494	c.2292G>C	c.(2290-2292)cgG>cgC	p.R764R	DUOX2_ENST00000389039.6_Silent_p.R764R	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	764					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R764R(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGATGCGTTCCCGCTGCTGCT	0.557																																							uc010bea.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)	5						c.(2290-2292)CGG>CGC		dual oxidase 2 precursor							138.0	125.0	129.0					15																	45397883		2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45397883C>G	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2292G>C	15.37:g.45397883C>G						DUOX2_uc001zun.2_Silent_p.R764R	p.R764R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	18	2495	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	764			Cytoplasmic (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.2292G>C	CCDS10117.1																																																																																				0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		39	61	0	0	0	0.005524	0	39	61				
FBN1	2200	broad.mit.edu	37	15	48712914	48712914	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:48712914G>A	ENST00000316623.5	-	63	8244	c.7789C>T	c.(7789-7791)Ctc>Ttc	p.L2597F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2597	EGF-like 45; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L2597F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGTGCTGGAGGTAGCCCTGG	0.527																																							uc001zwx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(7789-7791)CTC>TTC		fibrillin 1 precursor							98.0	84.0	89.0					15																	48712914		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48712914G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7789C>T	15.37:g.48712914G>A	ENSP00000325527:p.Leu2597Phe					FBN1_uc010beo.1_RNA	p.L2597F	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	63	8117	-		all_lung(180;0.00279)	2597			EGF-like 45; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7789C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084775	0.55861	.	.	ENSG00000166147	ENST00000316623	D	0.86769	-2.17	6.17	6.17	0.99709	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.120047	0.64402	D	0.000019	D	0.87188	0.6115	N	0.12920	0.275	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81986	-0.0681	10	0.10636	T	0.68	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	2597	P35555	FBN1_HUMAN	F	2597	ENSP00000325527:L2597F	ENSP00000325527:L2597F	L	-	1	0	FBN1	46500206	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.630000	0.67805	2.941000	0.99782	0.655000	0.94253	CTC		0.527	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			5	54	0	0	0	0.000602	0	5	54				
FBN1	2200	broad.mit.edu	37	15	48805800	48805800	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:48805800T>G	ENST00000316623.5	-	13	1989	c.1534A>C	c.(1534-1536)Acc>Ccc	p.T512P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	512	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T512P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTGACAGGTGTACGAACCC	0.473																																							uc001zwx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1534-1536)ACC>CCC		fibrillin 1 precursor							121.0	97.0	105.0					15																	48805800		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48805800T>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1534A>C	15.37:g.48805800T>G	ENSP00000325527:p.Thr512Pro						p.T512P	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	13	1862	-		all_lung(180;0.00279)	512			EGF-like 7; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1534A>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364694	0.41902	.	.	ENSG00000166147	ENST00000316623	D	0.92249	-3.0	5.78	3.44	0.39384	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.337880	0.35805	N	0.002974	D	0.90676	0.7075	M	0.87038	2.855	0.80722	D	1	B	0.28998	0.23	B	0.28385	0.089	D	0.86450	0.1772	10	0.36615	T	0.2	.	5.6541	0.17633	0.1342:0.132:0.0:0.7338	.	512	P35555	FBN1_HUMAN	P	512	ENSP00000325527:T512P	ENSP00000325527:T512P	T	-	1	0	FBN1	46593092	0.994000	0.37717	0.962000	0.40283	0.793000	0.44817	0.495000	0.22483	0.980000	0.38523	0.533000	0.62120	ACC		0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			7	35	0	0	0	0.00308	0	7	35				
CEP152	22995	broad.mit.edu	37	15	49059596	49059597	+	Missense_Mutation	DNP	CT	CT	TA	rs190580372		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:49059596_49059597CT>TA	ENST00000380950.2	-	16	2269_2270	c.2082_2083AG>TA	c.(2080-2085)ttAGca>ttTAca	p.694_695LA>FT	CEP152_ENST00000325747.5_Missense_Mutation_p.601_602LA>FT|CEP152_ENST00000399334.3_Missense_Mutation_p.694_695LA>FT|CEP152_ENST00000559398.1_5'Flank	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	694					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.L694_A695>FT(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCATGCTTTGCTAATAGGCTTT	0.436																																							uc001zwy.2		NA																	2	Complex - compound substitution(2)		lung(2)	lung(2)	2						c.(2080-2085)TTAGCA>TTTACA		centrosomal protein 152kDa																																				SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059596_49059597CT>TA	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2082_2083delinsTA	15.37:g.49059596_49059597delinsTA	ENSP00000370337:p.L694_A695delinsFT					CEP152_uc001zwz.2_Missense_Mutation_p.694_695LA>FT|CEP152_uc001zxa.1_Missense_Mutation_p.601_602LA>FT	p.694_695LA>FT	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	16	2116_2117	-		all_lung(180;0.0428)	694_695					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	DNP	ENST00000380950.2	37	c.2082_2083AG>TA	CCDS58361.1																																																																																				0.436	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		7	16	0	0	0	0.004672	0	7	16				
GALK2	2585	broad.mit.edu	37	15	49611952	49611952	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:49611952C>T	ENST00000560031.1	+	9	1426	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	GALK2_ENST00000544523.1_Silent_p.D349D|GALK2_ENST00000543495.1_3'UTR|GALK2_ENST00000327171.3_Silent_p.D362D|GALK2_ENST00000396509.2_Silent_p.D349D|GALK2_ENST00000559454.1_Silent_p.D349D			Q01415	GALK2_HUMAN	galactokinase 2	373					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.D362D(2)|p.D373D(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GCTGCCGGGACATGTATGAGT	0.532																																							uc001zxj.1		NA																	4	Substitution - coding silent(4)		lung(4)	breast(1)	1						c.(1117-1119)GAC>GAT		galactokinase 2 isoform 1							59.0	54.0	56.0					15																	49611952		2196	4295	6491	SO:0001819	synonymous_variant	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49611952C>T		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.1119C>T	15.37:g.49611952C>T						GALK2_uc001zxi.1_Silent_p.D362D|GALK2_uc010ufb.1_Silent_p.D349D|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Silent_p.D349D	p.D373D	NM_002044	NP_002035	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	9	1217	+		all_lung(180;0.000325)	373					Q7Z4Q4	Silent	SNP	ENST00000560031.1	37	c.1119C>T	CCDS42034.1																																																																																				0.532	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			9	22	0	0	0	0.006214	0	9	22				
HDC	3067	broad.mit.edu	37	15	50534774	50534775	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50534774_50534775GG>TT	ENST00000267845.3	-	12	2073_2074	c.1671_1672CC>AA	c.(1669-1674)gcCCca>gcAAca	p.P558T	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.P525T	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.P558T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		GTGGCATCTGGGGCCTCTTCTG	0.545																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1669-1674)GCCCCA>GCAACA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)																																			SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534774_50534775GG>TT		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1671_1672delinsTT	15.37:g.50534774_50534775delinsTT	ENSP00000267845:p.Pro558Thr					HDC_uc001zxy.2_Missense_Mutation_p.P301T|HDC_uc010uff.1_Missense_Mutation_p.P525T	p.P558T	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1777_1778	-		all_lung(180;0.0138)	558						Missense_Mutation	DNP	ENST00000267845.3	37	c.1671_1672CC>AA	CCDS10134.1																																																																																				0.545	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			50	109	0	0	0	0.004672	0	50	109				
HDC	3067	broad.mit.edu	37	15	50540459	50540459	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50540459G>C	ENST00000267845.3	-	10	1525	c.1123C>G	c.(1123-1125)Caa>Gaa	p.Q375E	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.Q375E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ACATGTGCTTGAAGATTCTTC	0.507																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1123-1125)CAA>GAA		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						86.0	76.0	80.0					15																	50540459		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50540459G>C		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1123C>G	15.37:g.50540459G>C	ENSP00000267845:p.Gln375Glu					HDC_uc001zxy.2_Missense_Mutation_p.Q118E|HDC_uc010uff.1_Intron	p.Q375E	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	10	1229	-		all_lung(180;0.0138)	375						Missense_Mutation	SNP	ENST00000267845.3	37	c.1123C>G	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836217	0.91117	.	.	ENSG00000140287	ENST00000267845	T	0.38077	1.16	5.35	5.35	0.76521	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.053230	0.85682	D	0.000000	T	0.66723	0.2818	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.73288	-0.4030	10	0.87932	D	0	-13.7062	19.1263	0.93386	0.0:0.0:1.0:0.0	.	375	P19113	DCHS_HUMAN	E	375	ENSP00000267845:Q375E	ENSP00000267845:Q375E	Q	-	1	0	HDC	48327751	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.509000	0.98002	2.510000	0.84645	0.558000	0.71614	CAA		0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			5	11	0	0	0	0.001168	0	5	11				
HDC	3067	broad.mit.edu	37	15	50555455	50555455	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:50555455T>A	ENST00000267845.3	-	2	583	c.181A>T	c.(181-183)Att>Ttt	p.I61F	HDC_ENST00000543581.1_Missense_Mutation_p.I61F	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0	Ala/Gly-rich.				respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.I61F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ATTCGTTCAATGTCCCCAAAG	0.597																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(181-183)ATT>TTT		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						169.0	153.0	158.0					15																	50555455		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50555455T>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.181A>T	15.37:g.50555455T>A	ENSP00000267845:p.Ile61Phe					HDC_uc010uff.1_Missense_Mutation_p.I61F|HDC_uc010bet.1_Missense_Mutation_p.I61F|HDC_uc010beu.1_Missense_Mutation_p.I61F	p.I61F	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	2	287	-		all_lung(180;0.0138)	61						Missense_Mutation	SNP	ENST00000267845.3	37	c.181A>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.888407	0.33348	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.37915	1.17;1.17	6.05	6.05	0.98169	Pyridoxal phosphate-dependent transferase, major domain (1);	0.115325	0.56097	D	0.000036	T	0.40015	0.1100	N	0.25031	0.7	0.54753	D	0.99998	P;P	0.44776	0.568;0.843	B;P	0.51777	0.367;0.679	T	0.21793	-1.0235	10	0.51188	T	0.08	-20.9777	16.5932	0.84781	0.0:0.0:0.0:1.0	.	61;61	B7ZM01;P19113	.;DCHS_HUMAN	F	61	ENSP00000267845:I61F;ENSP00000440252:I61F	ENSP00000267845:I61F	I	-	1	0	HDC	48342747	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	2.741000	0.47426	2.320000	0.78422	0.528000	0.53228	ATT		0.597	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			50	138	0	0	0	0.01441	0	50	138				
LYSMD2	256586	broad.mit.edu	37	15	52017224	52017224	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:52017224A>G	ENST00000267838.3	-	2	882	c.368T>C	c.(367-369)tTg>tCg	p.L123S	LYSMD2_ENST00000454181.2_Missense_Mutation_p.L32S|LYSMD2_ENST00000558126.1_Intron|LYSMD2_ENST00000560491.1_Missense_Mutation_p.L32S	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	123								p.L123S(2)		lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		ATTAAACAACAAAGGCTTCTC	0.383																																							uc002abi.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(367-369)TTG>TCG		LysM, putative peptidoglycan-binding, domain							88.0	97.0	94.0					15																	52017224		2195	4293	6488	SO:0001583	missense	256586				cell wall macromolecule catabolic process			g.chr15:52017224A>G	AY125955	CCDS10143.1, CCDS45259.1	15q21.2	2005-08-09			ENSG00000140280	ENSG00000140280			28571	protein-coding gene	gene with protein product						12477932	Standard	NM_153374		Approved	MGC35274	uc002abi.3	Q8IV50	OTTHUMG00000131804	ENST00000267838.3:c.368T>C	15.37:g.52017224A>G	ENSP00000267838:p.Leu123Ser					LYSMD2_uc002abj.2_Missense_Mutation_p.L32S	p.L123S	NM_153374	NP_699205	Q8IV50	LYSM2_HUMAN		all cancers(107;0.00258)	2	869	-			123					Q5CZ88|Q8WTV3	Missense_Mutation	SNP	ENST00000267838.3	37	c.368T>C	CCDS10143.1	.	.	.	.	.	.	.	.	.	.	A	8.156	0.788525	0.16258	.	.	ENSG00000140280	ENST00000267838;ENST00000454181	T;T	0.29142	1.58;1.61	5.43	1.89	0.25635	.	0.297020	0.33309	N	0.005043	T	0.16599	0.0399	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.12604	-1.0541	10	0.06625	T	0.88	-5.6065	8.2352	0.31622	0.7043:0.0:0.2957:0.0	.	123	Q8IV50	LYSM2_HUMAN	S	123;32	ENSP00000267838:L123S;ENSP00000410424:L32S	ENSP00000267838:L123S	L	-	2	0	LYSMD2	49804516	0.999000	0.42202	0.992000	0.48379	0.995000	0.86356	3.770000	0.55310	0.366000	0.24427	0.528000	0.53228	TTG		0.383	LYSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254741.1	NM_153374		11	26	0	0	0	0.008291	0	11	26				
TEX9	374618	broad.mit.edu	37	15	56681599	56681599	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:56681599G>A	ENST00000352903.2	+	6	419		c.e6+1		TEX9_ENST00000561221.2_Splice_Site|TEX9_ENST00000558083.2_Splice_Site|TEX9_ENST00000537232.1_Splice_Site	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9									p.?(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CAAATTCAAGGTATAGTATAG	0.274																																							uc002adp.2		NA																	1	Unknown(1)		lung(1)		0						c.e6+1		testis expressed 9							61.0	57.0	58.0					15																	56681599		2190	4285	6475	SO:0001630	splice_region_variant	374618							g.chr15:56681599G>A	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.395+1G>A	15.37:g.56681599G>A						TEX9_uc002ado.1_Splice_Site_p.S132_splice|TEX9_uc010ugl.1_Splice_Site_p.S57_splice|TEX9_uc002adq.1_Splice_Site_p.S57_splice	p.S132_splice	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	6	400	+								B4DH73	Splice_Site	SNP	ENST00000352903.2	37	c.395_splice	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682035	0.68042	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEX9	54468891	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.751000	0.68720	2.725000	0.93324	0.650000	0.86243	.		0.274	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524	Intron	3	5	0	0	0	0.004672	0	3	5				
ADAM10	102	broad.mit.edu	37	15	58957351	58957351	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:58957351G>C	ENST00000260408.3	-	5	973	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	177					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.S177*(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCAAATACTGAATGATCTGC	0.368																																							uc002afd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(529-531)TCA>TGA		ADAM metallopeptidase domain 10 precursor							145.0	139.0	141.0					15																	58957351		2192	4292	6484	SO:0001587	stop_gained	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58957351G>C	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.530C>G	15.37:g.58957351G>C	ENSP00000260408:p.Ser177*					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Nonsense_Mutation_p.S177*	p.S177*	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	5	974	-			177			Cysteine switch (By similarity).|Extracellular (Potential).		B4DU28|Q10742|Q92650	Nonsense_Mutation	SNP	ENST00000260408.3	37	c.530C>G	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565156	0.86439	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	.	.	.	5.6	5.6	0.85130	.	0.114571	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	4.4309	17.7545	0.88445	0.0:0.0:1.0:0.0	.	.	.	.	X	177;124	.	ENSP00000260408:S177X	S	-	2	0	ADAM10	56744643	1.000000	0.71417	0.907000	0.35723	0.998000	0.95712	8.278000	0.89899	2.798000	0.96311	0.650000	0.86243	TCA		0.368	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		6	42	0	0	0	0.001168	0	6	42				
VPS13C	54832	broad.mit.edu	37	15	62212764	62212764	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:62212764G>T	ENST00000261517.5	-	56	7218	c.7145C>A	c.(7144-7146)tCt>tAt	p.S2382Y	VPS13C_ENST00000395898.3_Missense_Mutation_p.S2339Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2382Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2339Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.S2382Y(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTCCTGAAGAAATATGAAT	0.308																																							uc002agz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(7144-7146)TCT>TAT		vacuolar protein sorting 13C protein isoform 2A							60.0	64.0	63.0					15																	62212764		2203	4294	6497	SO:0001583	missense	54832				protein localization			g.chr15:62212764G>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7145C>A	15.37:g.62212764G>T	ENSP00000261517:p.Ser2382Tyr					VPS13C_uc002aha.2_Missense_Mutation_p.S2339Y|VPS13C_uc002ahb.1_Missense_Mutation_p.S2382Y|VPS13C_uc002ahc.1_Missense_Mutation_p.S2339Y|VPS13C_uc002ahd.1_5'Flank	p.S2382Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			56	7219	-			2382						Missense_Mutation	SNP	ENST00000261517.5	37	c.7145C>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	3.341	-0.134703	0.06711	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.51325	0.71;0.71;0.71	5.84	5.84	0.93424	.	0.166220	0.56097	D	0.000034	T	0.35653	0.0939	L	0.39566	1.225	0.41623	D	0.988977	B;B;B;B	0.11235	0.004;0.004;0.004;0.002	B;B;B;B	0.15484	0.008;0.013;0.008;0.009	T	0.17623	-1.0363	10	0.02654	T	1	.	14.0246	0.64577	0.0:0.0:0.8491:0.1508	.	2339;2382;2339;2382	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	2339;2382;2382;2382	ENSP00000249837:S2339Y;ENSP00000261517:S2382Y;ENSP00000379233:S2382Y	ENSP00000249837:S2339Y	S	-	2	0	VPS13C	60000056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.841000	0.55850	2.748000	0.94277	0.650000	0.86243	TCT		0.308	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		3	13	1	0	6.4e-05	0.004672	6.95722e-05	3	13				
IGDCC4	57722	broad.mit.edu	37	15	65676637	65676637	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:65676637G>T	ENST00000352385.2	-	20	3672	c.3463C>A	c.(3463-3465)Cct>Act	p.P1155T	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1155T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGTCCTCAGGCTCCAGGTCT	0.612																																							uc002aou.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(3463-3465)CCT>ACT		immunoglobulin superfamily, DCC subclass, member							48.0	49.0	49.0					15																	65676637		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65676637G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3463C>A	15.37:g.65676637G>T	ENSP00000319623:p.Pro1155Thr					IGDCC4_uc002aot.1_Missense_Mutation_p.P743T	p.P1155T	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			20	3673	-			1155			Cytoplasmic (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3463C>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608028	0.28623	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.59364	0.27	5.15	1.12	0.20585	.	0.259448	0.27591	N	0.018688	T	0.39708	0.1088	L	0.34521	1.04	0.09310	N	1	B	0.27823	0.19	B	0.29267	0.1	T	0.20706	-1.0267	10	0.41790	T	0.15	-4.478	4.3358	0.11085	0.3407:0.0:0.5122:0.1472	.	1155	Q8TDY8	IGDC4_HUMAN	T	1155;884	ENSP00000319623:P1155T	ENSP00000319623:P1155T	P	-	1	0	IGDCC4	63463690	0.675000	0.27558	0.294000	0.24946	0.917000	0.54804	0.994000	0.29693	0.214000	0.20742	-0.263000	0.10527	CCT		0.612	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		19	60	1	0	8.28177e-16	0.007413	1.08825e-15	19	60				
TLE3	7090	broad.mit.edu	37	15	70342515	70342515	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:70342515C>T	ENST00000558939.1	-	20	3617	c.2240G>A	c.(2239-2241)tGt>tAt	p.C747Y	TLE3_ENST00000559048.1_Missense_Mutation_p.C747Y|TLE3_ENST00000558201.1_Missense_Mutation_p.C753Y|TLE3_ENST00000442299.2_Missense_Mutation_p.C739Y|TLE3_ENST00000557997.1_Missense_Mutation_p.C739Y|TLE3_ENST00000317509.8_Missense_Mutation_p.C735Y|TLE3_ENST00000558379.1_Missense_Mutation_p.C742Y|TLE3_ENST00000557907.1_Missense_Mutation_p.C739Y|TLE3_ENST00000560589.1_Missense_Mutation_p.C691Y|TLE3_ENST00000559929.1_Missense_Mutation_p.C757Y|TLE3_ENST00000451782.2_Missense_Mutation_p.C744Y|TLE3_ENST00000539550.1_Missense_Mutation_p.C674Y|TLE3_ENST00000559191.1_Missense_Mutation_p.C328Y|TLE3_ENST00000440567.3_Missense_Mutation_p.C737Y|TLE3_ENST00000560939.1_Missense_Mutation_p.C749Y	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	747					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C747Y(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAAATGTCACAACTCAAGAC	0.473																																							uc002asm.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(2239-2241)TGT>TAT		transducin-like enhancer protein 3 isoform a							145.0	145.0	145.0					15																	70342515		1989	4165	6154	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70342515C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.2240G>A	15.37:g.70342515C>T	ENSP00000452871:p.Cys747Tyr					TLE3_uc002ask.2_Missense_Mutation_p.C674Y|TLE3_uc002asl.2_Missense_Mutation_p.C747Y|TLE3_uc010ukd.1_Missense_Mutation_p.C737Y|TLE3_uc010bik.1_Missense_Mutation_p.C328Y|TLE3_uc010bil.1_Missense_Mutation_p.C744Y|TLE3_uc002asn.2_Missense_Mutation_p.C735Y|TLE3_uc002asp.2_Missense_Mutation_p.C739Y|TLE3_uc002aso.2_Missense_Mutation_p.C742Y	p.C747Y	NM_005078	NP_005069	Q04726	TLE3_HUMAN			20	3359	-			747			WD 7.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.2240G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472680	0.84640	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81327	0.4799	M	0.91972	3.26	0.80722	D	1	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.86106	0.1559	10	0.87932	D	0	-6.8301	17.4877	0.87693	0.0:1.0:0.0:0.0	.	737;744;739;742;735;747;747;674	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	Y	739;744;747;737;674	ENSP00000390007:C739Y;ENSP00000394717:C744Y;ENSP00000415057:C737Y;ENSP00000442594:C674Y	ENSP00000319233:C747Y	C	-	2	0	TLE3	68129569	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.535000	0.82014	2.474000	0.83562	0.462000	0.41574	TGT		0.473	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		32	79	0	0	0	0.013726	0	32	79				
MYO9A	4649	broad.mit.edu	37	15	72122611	72122611	+	Silent	SNP	C	C	A	rs146276674	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:72122611C>A	ENST00000356056.5	-	40	7351	c.6879G>T	c.(6877-6879)tcG>tcT	p.S2293S	MYO9A_ENST00000564571.1_Silent_p.S2293S|MYO9A_ENST00000424560.1_Silent_p.S2364S|MYO9A_ENST00000444904.1_Silent_p.S2274S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2293	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAACAGGAGACGATGGACCTG	0.468																																							uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(6877-6879)TCG>TCT		myosin IXA							126.0	120.0	122.0					15																	72122611		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72122611C>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6879G>T	15.37:g.72122611C>A						MYO9A_uc002atj.2_Silent_p.S224S|MYO9A_uc002atk.2_Silent_p.S1088S	p.S2293S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			40	7352	-			2293			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.6879G>T	CCDS10239.1																																																																																				0.468	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		3	45	1	0	6.4e-05	0.004672	6.95722e-05	3	45				
CD276	80381	broad.mit.edu	37	15	73991925	73991925	+	Splice_Site	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:73991925A>G	ENST00000318443.5	+	2	248		c.e2-1		CD276_ENST00000561213.1_Splice_Site|CD276_ENST00000537340.2_Intron|CD276_ENST00000564751.1_5'Flank|CD276_ENST00000318424.5_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCTTTCTCCCAGGCAGGGGCA	0.637																																							uc002avv.1		NA																	0				skin(1)	1						c.e2-2		CD276 antigen isoform a							17.0	23.0	21.0					15																	73991925		687	1587	2274	SO:0001630	splice_region_variant	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73991925A>G	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.-54-1A>G	15.37:g.73991925A>G						CD276_uc010bjd.1_Intron|CD276_uc002avu.1_Splice_Site|CD276_uc002avw.1_Splice_Site|CD276_uc010ulb.1_Splice_Site		NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN			2	181	+								Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Splice_Site	SNP	ENST00000318443.5	37	c.-53_splice	CCDS32288.1																																																																																				0.637	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240	Intron	3	12	0	0	0	0.004672	0	3	12				
CYP1A1	1543	broad.mit.edu	37	15	75014861	75014861	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:75014861G>A	ENST00000379727.3	-	2	776	c.578C>T	c.(577-579)tCa>tTa	p.S193L	CYP1A1_ENST00000395048.2_Missense_Mutation_p.S193L|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S193L|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S193L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	193					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.S193L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	ATTGGTCACTGATACCACCAC	0.517									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																														uc002ayp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(577-579)TCA>TTA		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						92.0	88.0	89.0					15																	75014861		2197	4296	6493	SO:0001583	missense	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014861G>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.578C>T	15.37:g.75014861G>A	ENSP00000369050:p.Ser193Leu					CYP1A1_uc010bjv.2_Intron|CYP1A1_uc010bjw.2_Intron|CYP1A1_uc010bju.2_5'UTR|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Missense_Mutation_p.S193L|CYP1A1_uc010bjy.2_Missense_Mutation_p.S193L|CYP1A1_uc010bjz.1_5'UTR	p.S193L	NM_000499	NP_000490	P04798	CP1A1_HUMAN			2	700	-			193					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.578C>T	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173614	0.57584	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.66815	-0.23;-0.23;-0.23	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.99;1.0	D	0.85333	0.1091	10	0.87932	D	0	.	18.4037	0.90526	0.0:0.0:1.0:0.0	.	193;193	E7EMT5;P04798	.;CP1A1_HUMAN	L	193	ENSP00000369050:S193L;ENSP00000378488:S193L;ENSP00000378489:S193L	ENSP00000268062:S193L	S	-	2	0	CYP1A1	72801914	1.000000	0.71417	0.115000	0.21578	0.007000	0.05969	9.705000	0.98719	2.327000	0.79052	0.561000	0.74099	TCA		0.517	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		28	59	0	0	0	0.00632	0	28	59				
CYP1A1	1543	broad.mit.edu	37	15	75014929	75014929	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:75014929C>G	ENST00000379727.3	-	2	708	c.510G>C	c.(508-510)ctG>ctC	p.L170L	CYP1A1_ENST00000395048.2_Silent_p.L170L|CYP1A1_ENST00000567032.1_Silent_p.L170L|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395049.4_Silent_p.L170L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	170					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.L170L(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	ACGTGCTTATCAGGACCTCAG	0.537									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																														uc002ayp.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(508-510)CTG>CTC		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						81.0	76.0	78.0					15																	75014929		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014929C>G	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.510G>C	15.37:g.75014929C>G						CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Intron|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Silent_p.L170L|CYP1A1_uc010bjy.2_Silent_p.L170L|CYP1A1_uc010bjz.1_Intron	p.L170L	NM_000499	NP_000490	P04798	CP1A1_HUMAN			2	632	-			170					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.510G>C	CCDS10268.1																																																																																				0.537	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		25	88	0	0	0	0.00333	0	25	88				
MEX3B	84206	broad.mit.edu	37	15	82336941	82336941	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:82336941T>A	ENST00000329713.4	-	2	705	c.270A>T	c.(268-270)aaA>aaT	p.K90N	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	90	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K90N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CCCGCAGCGCTTTGATTTTAC	0.597																																							uc002bgq.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|kidney(1)	2						c.(268-270)AAA>AAT		mex-3 homolog B							53.0	60.0	58.0					15																	82336941		2203	4299	6502	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336941T>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.270A>T	15.37:g.82336941T>A	ENSP00000329918:p.Lys90Asn						p.K90N	NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN			2	585	-			90			KH 1.		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.270A>T	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.474888	0.63737	.	.	ENSG00000183496	ENST00000329713	T	0.38240	1.15	4.33	3.2	0.36748	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.140448	0.47093	D	0.000259	T	0.52597	0.1744	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51236	-0.8731	10	0.72032	D	0.01	-11.1367	6.9486	0.24532	0.0:0.1956:0.0:0.8044	.	90	Q6ZN04	MEX3B_HUMAN	N	90	ENSP00000329918:K90N	ENSP00000329918:K90N	K	-	3	2	MEX3B	80123996	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.400000	0.59709	0.704000	0.31869	0.402000	0.26972	AAA		0.597	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		15	35	0	0	0	0.003163	0	15	35				
AP3B2	8120	broad.mit.edu	37	15	83332601	83332601	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:83332601C>A	ENST00000261722.3	-	19	2538	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	AP3B2_ENST00000535348.1_Silent_p.S745S|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.S796S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	777	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.S776S(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCGGACTCCGATGTCATCT	0.572																																							uc010uoh.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)|pancreas(1)	5						c.(2329-2331)TCG>TCT		adaptor-related protein complex 3, beta 2							52.0	58.0	56.0					15																	83332601		2066	4203	6269	SO:0001819	synonymous_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83332601C>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2331G>T	15.37:g.83332601C>A						AP3B2_uc010uoi.1_Silent_p.S796S|AP3B2_uc010uoj.1_Silent_p.S745S|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.S413S|AP3B2_uc002biy.1_5'Flank	p.S777S	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		19	2508	-			777			Glu/Ser-rich.		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	c.2331G>T	CCDS45331.1																																																																																				0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			15	25	1	0	1.3612e-06	0.003163	1.55873e-06	15	25				
ISG20	3669	broad.mit.edu	37	15	89198743	89198743	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:89198743G>A	ENST00000306072.5	+	4	885	c.527G>A	c.(526-528)cGc>cAc	p.R176H	ISG20_ENST00000560746.1_3'UTR|ISG20_ENST00000560741.1_Missense_Mutation_p.R176H	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	176					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)	p.R176H(1)		large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GGGCTGCCCCGCCTGGCTGTG	0.572																																							uc002bmv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CGC>CAC		interferon stimulated exonuclease							32.0	38.0	36.0					15																	89198743		2198	4298	6496	SO:0001583	missense	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89198743G>A	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.527G>A	15.37:g.89198743G>A	ENSP00000306565:p.Arg176His					ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	p.R176H	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		4	820	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		176					O00441|O00586	Missense_Mutation	SNP	ENST00000306072.5	37	c.527G>A	CCDS10345.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710373	0.48517	.	.	ENSG00000172183	ENST00000306072;ENST00000546338	T	0.32023	1.47	3.58	2.65	0.31530	Ribonuclease H-like (1);	1.584800	0.04038	N	0.302681	T	0.22513	0.0543	N	0.17631	0.505	0.09310	N	0.999998	B	0.06786	0.001	B	0.01281	0.0	T	0.19516	-1.0303	10	0.44086	T	0.13	-20.8486	7.1081	0.25374	0.1278:0.0:0.8722:0.0	.	176	Q96AZ6	ISG20_HUMAN	H	176;184	ENSP00000306565:R176H	ENSP00000306565:R176H	R	+	2	0	ISG20	86999747	0.000000	0.05858	0.003000	0.11579	0.667000	0.39255	0.232000	0.17891	0.844000	0.35094	0.467000	0.42956	CGC		0.572	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2	NM_002201		19	64	0	0	0	0.008871	0	19	64				
MFGE8	4240	broad.mit.edu	37	15	89449995	89449995	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:89449995C>A	ENST00000566497.1	-	4	463	c.402G>T	c.(400-402)cgG>cgT	p.R134R	MFGE8_ENST00000268150.8_Silent_p.R134R|MFGE8_ENST00000542878.1_Silent_p.R90R|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000539437.1_Silent_p.R126R|MFGE8_ENST00000268151.7_Silent_p.R134R			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	134	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)	p.R134R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCCACATCCTCCGCAGCAGGT	0.587																																							uc002bng.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(400-402)CGG>CGT		milk fat globule-EGF factor 8 protein isoform a							101.0	81.0	88.0					15																	89449995		2200	4299	6499	SO:0001819	synonymous_variant	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89449995C>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.402G>T	15.37:g.89449995C>A						MFGE8_uc002bnf.3_Silent_p.R22R|MFGE8_uc002bnh.3_Silent_p.R134R|MFGE8_uc010bnn.2_Silent_p.R126R|MFGE8_uc010upq.1_Silent_p.R90R|MFGE8_uc010upr.1_Silent_p.R134R|MFGE8_uc010bno.2_Silent_p.R90R	p.R134R	NM_005928	NP_005919	Q08431	MFGM_HUMAN			4	515	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		134			F5/8 type C 1.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	c.402G>T	CCDS10347.1																																																																																				0.587	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		23	51	1	0	1.66031e-10	0.003954	2.04129e-10	23	51				
RHCG	51458	broad.mit.edu	37	15	90020012	90020012	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:90020012A>T	ENST00000268122.4	-	9	1353	c.1285T>A	c.(1285-1287)Tgc>Agc	p.C429S	RHCG_ENST00000544600.1_Missense_Mutation_p.C429S	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	429					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.C429S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCCTCAAAGCAGTTCTCATCT	0.547																																							uc002bnz.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(1285-1287)TGC>AGC		Rh family, C glycoprotein							111.0	100.0	104.0					15																	90020012		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90020012A>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1285T>A	15.37:g.90020012A>T	ENSP00000268122:p.Cys429Ser					RHCG_uc002bny.2_Missense_Mutation_p.C200S|RHCG_uc002boa.2_RNA	p.C429S	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN			9	1309	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		429			Cytoplasmic (Potential).		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.1285T>A	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	A	32	5.158646	0.94686	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.21543	2.02;2.0	5.69	5.69	0.88448	Ammonium transporter AmtB-like (1);	0.041242	0.85682	D	0.000000	T	0.55369	0.1916	H	0.94542	3.55	0.80722	D	1	D	0.55385	0.971	P	0.59424	0.857	T	0.69487	-0.5132	9	.	.	.	-44.2723	15.9467	0.79799	1.0:0.0:0.0:0.0	.	429	Q9UBD6	RHCG_HUMAN	S	429;429;420	ENSP00000438123:C429S;ENSP00000268122:C429S	.	C	-	1	0	RHCG	87821016	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.852000	0.92215	2.169000	0.68431	0.533000	0.62120	TGC		0.547	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		15	37	0	0	0	0.004007	0	15	37				
ANPEP	290	broad.mit.edu	37	15	90346962	90346962	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:90346962G>A	ENST00000300060.6	-	8	1666	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	451	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.S451S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCGGGTGGGAGGAGGCCAGTG	0.607																																					NSCLC(30;827 977 2459 19669 26125)	NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(1351-1353)TCC>TCT		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						85.0	88.0	87.0					15																	90346962		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90346962G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1353C>T	15.37:g.90346962G>A							p.S451S	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		8	1645	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		451			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.1353C>T	CCDS10356.1																																																																																				0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			20	59	0	0	0	0.012319	0	20	59				
ADAMTS17	170691	broad.mit.edu	37	15	100802561	100802561	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:100802561C>G	ENST00000268070.4	-	5	974	c.869G>C	c.(868-870)cGt>cCt	p.R290P	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	290	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R290P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACTTACGGGACGTTGTCGTAG	0.473																																							uc002bvv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(868-870)CGT>CCT		ADAM metallopeptidase with thrombospondin type 1							154.0	147.0	149.0					15																	100802561		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100802561C>G	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.869G>C	15.37:g.100802561C>G	ENSP00000268070:p.Arg290Pro					ADAMTS17_uc002bvx.1_Missense_Mutation_p.R47P	p.R290P	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	5	948	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		290			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.869G>C	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655339	0.67586	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.61859	0.07	5.3	4.37	0.52481	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.066038	0.64402	D	0.000011	T	0.55321	0.1913	N	0.05031	-0.125	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.66084	0.722;0.941	T	0.65364	-0.6186	10	0.52906	T	0.07	.	15.559	0.76223	0.1391:0.8608:0.0:0.0	.	47;290	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	P	290;47	ENSP00000268070:R290P	ENSP00000268070:R290P	R	-	2	0	ADAMTS17	98620084	1.000000	0.71417	0.135000	0.22099	0.032000	0.12392	6.211000	0.72182	1.341000	0.45600	0.655000	0.94253	CGT		0.473	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		15	105	0	0	0	0.00499	0	15	105				
AXIN1	8312	broad.mit.edu	37	16	347741	347741	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:347741T>C	ENST00000262320.3	-	6	2136	c.1765A>G	c.(1765-1767)Agt>Ggt	p.S589G	AXIN1_ENST00000354866.3_Missense_Mutation_p.S589G|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	589	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.S589G(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGGCCATCACTGGCGTTGGGG	0.652																																							uc002cgp.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|liver(1)	2						c.(1765-1767)AGT>GGT		axin 1 isoform a							23.0	24.0	24.0					16																	347741		2201	4298	6499	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347741T>C	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1765A>G	16.37:g.347741T>C	ENSP00000262320:p.Ser589Gly					AXIN1_uc002cgq.1_Missense_Mutation_p.S589G	p.S589G	NM_003502	NP_003493	O15169	AXIN1_HUMAN			6	1942	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	589			Interaction with RNF111.|Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1765A>G	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	T	8.276	0.814427	0.16607	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.60548	0.21;0.18	5.03	-6.75	0.01738	.	1.130340	0.06224	N	0.687403	T	0.23649	0.0572	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12116	-1.0560	10	0.22706	T	0.39	-17.6948	4.7645	0.13125	0.1025:0.4396:0.1043:0.3537	.	589;589	O15169-2;O15169	.;AXIN1_HUMAN	G	589	ENSP00000262320:S589G;ENSP00000346935:S589G	ENSP00000262320:S589G	S	-	1	0	AXIN1	287742	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.272000	0.08560	-1.124000	0.02936	-0.446000	0.05623	AGT		0.652	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			8	19	0	0	0	0.004482	0	8	19				
WDR90	197335	broad.mit.edu	37	16	706405	706405	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:706405G>T	ENST00000293879.4	+	18	2070	c.2070G>T	c.(2068-2070)cgG>cgT	p.R690R	WDR90_ENST00000549091.1_Silent_p.R690R|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	690										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGCTGTCCCGGGTGTACCACA	0.697																																							uc002cii.1		NA																	0				ovary(1)	1						c.(2068-2070)CGG>CGT		WD repeat domain 90							13.0	16.0	15.0					16																	706405		2118	4221	6339	SO:0001819	synonymous_variant	197335							g.chr16:706405G>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2070G>T	16.37:g.706405G>T						WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.R217R|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	p.R690R	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			18	2124	+		Hepatocellular(780;0.0218)	690			WD 5.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.2070G>T	CCDS42092.1																																																																																				0.697	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		6	19	1	0	0.00116845	0.001168	0.00122497	6	19				
CCDC78	124093	broad.mit.edu	37	16	773113	773113	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:773113G>T	ENST00000293889.6	-	12	1287	c.1182C>A	c.(1180-1182)gaC>gaA	p.D394E		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	394					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TGCGGGAGAAGTCCCGGAGCT	0.642																																							uc002cjg.2		NA																	0				central_nervous_system(1)	1						c.(1180-1182)GAC>GAA		coiled-coil domain containing 78							43.0	41.0	41.0					16																	773113		2191	4294	6485	SO:0001583	missense	124093							g.chr16:773113G>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.1182C>A	16.37:g.773113G>T	ENSP00000293889:p.Asp394Glu					CCDC78_uc002cjf.2_Missense_Mutation_p.D243E|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Missense_Mutation_p.D153E	p.D394E	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN			12	1288	-		Hepatocellular(780;0.0218)	394					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.1182C>A	CCDS32353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.009|0.009	-1.852908|-1.852908	0.00563|0.00563	.|.	.|.	ENSG00000162004|ENSG00000162004	ENST00000293889;ENST00000540512|ENST00000345165	T|.	0.39997|.	1.05|.	4.38|4.38	0.957|0.957	0.19613|0.19613	.|.	0.234816|.	0.32935|.	N|.	0.005480|.	T|T	0.11793|0.11793	0.0287|0.0287	N|N	0.01352|0.01352	-0.895|-0.895	0.28144|0.28144	N|N	0.929666|0.929666	B;B;B|.	0.11235|.	0.002;0.004;0.002|.	B;B;B|.	0.14578|.	0.007;0.011;0.007|.	T|T	0.28427|0.28427	-1.0044|-1.0044	10|5	0.02654|.	T|.	1|.	-3.3324|-3.3324	10.4286|10.4286	0.44393|0.44393	0.0:0.4679:0.4068:0.1253|0.0:0.4679:0.4068:0.1253	.|.	153;394;243|.	D3DU63;A2IDD5;D3DU61|.	.;CCD78_HUMAN;.|.	E|N	394;207|243	ENSP00000293889:D394E|.	ENSP00000293889:D394E|.	D|T	-|-	3|2	2|0	CCDC78|CCDC78	713114|713114	0.188000|0.188000	0.23250|0.23250	0.502000|0.502000	0.27614|0.27614	0.083000|0.083000	0.17756|0.17756	-0.768000|-0.768000	0.04715|0.04715	0.385000|0.385000	0.24970|0.24970	-0.264000|-0.264000	0.10439|0.10439	GAC|ACT		0.642	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		8	39	1	0	1.12685e-05	0.004482	1.25378e-05	8	39				
TPSD1	23430	broad.mit.edu	37	16	1306299	1306299	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:1306299C>A	ENST00000211076.3	+	1	166	c.18C>A	c.(16-18)ccC>ccA	p.P6P	TPSD1_ENST00000397534.2_Intron|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	6						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P6P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TCCTTGCTCCCCAGATGCTGA	0.711																																							uc002clb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)CCC>CCA		tryptase delta 1 precursor							46.0	57.0	53.0					16																	1306299		2198	4299	6497	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306299C>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.18C>A	16.37:g.1306299C>A						TPSD1_uc010brm.1_5'Flank	p.P6P	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			1	27	+		Hepatocellular(780;0.00369)	6					O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.18C>A	CCDS10432.1																																																																																				0.711	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			22	77	1	0	1.64293e-13	0.00333	2.1111e-13	22	77				
IFT140	9742	broad.mit.edu	37	16	1652541	1652541	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:1652541G>A	ENST00000426508.2	-	4	562	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	67					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)				TGCCAGCACAGGGAAGCAACC	0.602																																							uc002cmb.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(199-201)CTG>TTG		intraflagellar transport 140							94.0	78.0	83.0					16																	1652541		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1652541G>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.199C>T	16.37:g.1652541G>A							p.L67L	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			4	561	-		Hepatocellular(780;0.219)	67			WD 2.		A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.199C>T	CCDS10439.1																																																																																				0.602	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		6	44	0	0	0	0.001984	0	6	44				
PKD1	5310	broad.mit.edu	37	16	2159683	2159684	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:2159683_2159684GC>AA	ENST00000262304.4	-	15	5692_5693	c.5484_5485GC>TT	c.(5482-5487)caGCtg>caTTtg	p.Q1828H	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.Q1828H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1828	PKD 14. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGTGGCCAGCTGCCCCCAAA	0.668																																							uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(5482-5487)CAGCTG>CATTTG		polycystin 1 isoform 1 precursor																																				SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159683_2159684GC>AA	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5484_5485delinsAA	16.37:g.2159683_2159684delinsAA	ENSP00000262304:p.Gln1828His					PKD1_uc002cot.1_Missense_Mutation_p.Q1828H	p.Q1828H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	5693_5694	-			1828			PKD 14.|Extracellular (Potential).		Q15140|Q15141	Missense_Mutation	DNP	ENST00000262304.4	37	c.5484_5485GC>TT	CCDS32369.1																																																																																				0.668	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	8	0	0	0	0.004672	0	3	8				
PKD1	5310	broad.mit.edu	37	16	2164413	2164413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:2164413C>A	ENST00000262304.4	-	11	2819	c.2611G>T	c.(2611-2613)Gag>Tag	p.E871*	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Nonsense_Mutation_p.E871*	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	871	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E871*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGACATTCTCAAAGCGGGCG	0.667																																							uc002cos.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(2611-2613)GAG>TAG		polycystin 1 isoform 1 precursor							17.0	15.0	15.0					16																	2164413		2174	4265	6439	SO:0001587	stop_gained	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164413C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2611G>T	16.37:g.2164413C>A	ENSP00000262304:p.Glu871*					PKD1_uc002cot.1_Nonsense_Mutation_p.E871*	p.E871*	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			11	2820	-			871			Extracellular (Potential).|PKD 3.		Q15140|Q15141	Nonsense_Mutation	SNP	ENST00000262304.4	37	c.2611G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	38	7.147698	0.98096	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	.	.	.	4.44	3.48	0.39840	.	0.274731	0.34245	N	0.004124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.2762	0.31874	0.0:0.7591:0.1568:0.0842	.	.	.	.	X	871	.	ENSP00000262304:E871X	E	-	1	0	PKD1	2104414	0.006000	0.16342	0.057000	0.19452	0.030000	0.12068	0.968000	0.29357	1.078000	0.41014	0.450000	0.29827	GAG		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			8	26	1	0	0.00448238	0.004482	0.00463893	8	26				
MEFV	4210	broad.mit.edu	37	16	3294475	3294475	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:3294475G>C	ENST00000219596.1	-	7	1763	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*	MEFV_ENST00000536379.1_Nonsense_Mutation_p.S364*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.S395*|MEFV_ENST00000541159.1_Nonsense_Mutation_p.S364*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	575	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.S575*(2)|p.S364*(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCATCTACCTGAGAAGTACTT	0.507																																							uc002cun.1		NA																	4	Substitution - Nonsense(4)		lung(4)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(1723-1725)TCA>TGA		Mediterranean fever protein	Colchicine(DB01394)						171.0	154.0	160.0					16																	3294475		2197	4300	6497	SO:0001587	stop_gained	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3294475G>C	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1724C>G	16.37:g.3294475G>C	ENSP00000219596:p.Ser575*						p.S575*	NM_000243	NP_000234	O15553	MEFV_HUMAN			7	1764	-			575					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Nonsense_Mutation	SNP	ENST00000219596.1	37	c.1724C>G	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048100	0.55110	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	.	.	.	5.24	0.793	0.18632	.	0.704921	0.12402	N	0.472032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-33.4534	8.3407	0.32241	0.4026:0.0:0.5974:0.0	.	.	.	.	X	575;575;395;364;364;364	.	ENSP00000219596:S575X	S	-	2	0	MEFV	3234476	0.601000	0.26907	0.830000	0.32933	0.008000	0.06430	0.152000	0.16302	0.080000	0.16959	-1.119000	0.02030	TCA		0.507	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		18	81	0	0	0	0.006122	0	18	81				
ZNF75A	7627	broad.mit.edu	37	16	3367374	3367374	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:3367374G>C	ENST00000574298.1	+	6	869	c.396G>C	c.(394-396)aaG>aaC	p.K132N	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K132N(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTCCAGTGAAGAAAAGAAAGA	0.383																																							uc002cut.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(394-396)AAG>AAC		zinc finger protein 75a							60.0	59.0	59.0					16																	3367374		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367374G>C	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.396G>C	16.37:g.3367374G>C	ENSP00000459566:p.Lys132Asn					ZNF75A_uc002cuv.3_RNA	p.K132N	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	922	+			132					Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.396G>C	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	G	6.623	0.483374	0.12581	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	1.81	0.25067	.	0.143201	0.32473	N	0.006058	T	0.22781	0.0550	L	0.31476	0.935	0.29767	N	0.835098	P	0.50617	0.937	P	0.46110	0.504	T	0.11518	-1.0584	9	0.10377	T	0.69	.	5.66	0.17664	0.3201:0.0:0.6799:0.0	.	132	Q96N20	ZN75A_HUMAN	N	132	.	ENSP00000293995:K132N	K	+	3	2	ZNF75A	3307375	0.931000	0.31567	0.998000	0.56505	0.963000	0.63663	0.412000	0.21131	0.781000	0.33589	0.557000	0.71058	AAG		0.383	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		5	21	0	0	0	0.000602	0	5	21				
ZNF500	26048	broad.mit.edu	37	16	4802892	4802892	+	Missense_Mutation	SNP	C	C	A	rs75619376	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:4802892C>A	ENST00000219478.6	-	6	1227	c.928G>T	c.(928-930)Ggc>Tgc	p.G310C	ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000545009.1_Missense_Mutation_p.G310C			O60304	ZN500_HUMAN	zinc finger protein 500	310					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)	p.G310C(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGTGGGGGGCCGCCTCTTGGC	0.662																																							uc002cxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(928-930)GGC>TGC		zinc finger protein 500							42.0	45.0	44.0					16																	4802892		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4802892C>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.928G>T	16.37:g.4802892C>A	ENSP00000219478:p.Gly310Cys					ZNF500_uc002cxo.1_Missense_Mutation_p.G102C|ZNF500_uc010uxt.1_Missense_Mutation_p.G310C	p.G310C	NM_021646	NP_067678	O60304	ZN500_HUMAN			6	1175	-			310					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.928G>T	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	5.365	0.252580	0.10185	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07800	3.22;3.16	2.76	0.367	0.16140	.	.	.	.	.	T	0.04543	0.0124	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.39702	-0.9601	9	0.62326	D	0.03	.	3.6114	0.08062	0.6032:0.2491:0.1477:0.0	.	310;310	B4DNN9;O60304	.;ZN500_HUMAN	C	310	ENSP00000445714:G310C;ENSP00000219478:G310C	ENSP00000219478:G310C	G	-	1	0	ZNF500	4742893	0.000000	0.05858	0.019000	0.16419	0.007000	0.05969	-0.183000	0.09712	0.029000	0.15352	-0.262000	0.10625	GGC		0.662	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		18	68	1	0	1.99824e-07	0.00499	2.3286e-07	18	68				
CLEC16A	23274	broad.mit.edu	37	16	11133706	11133706	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:11133706A>G	ENST00000409790.1	+	14	1863	c.1633A>G	c.(1633-1635)Agg>Ggg	p.R545G	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R527G|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.R545G(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGACTCATCAGGATCATGAA	0.577																																							uc002dao.2		NA																	2	Substitution - Missense(1)|Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1633-1635)AGG>GGG		C-type lectin domain family 16, member A							49.0	54.0	52.0					16																	11133706		2069	4200	6269	SO:0001583	missense	23274							g.chr16:11133706A>G	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1633A>G	16.37:g.11133706A>G	ENSP00000387122:p.Arg545Gly					CLEC16A_uc002dan.3_Missense_Mutation_p.R527G	p.R545G	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			14	1863	+			545						Missense_Mutation	SNP	ENST00000409790.1	37	c.1633A>G	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247402	0.59103	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.47869	0.83	5.29	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.67953	2.075	0.80722	D	1	D;D	0.64830	0.994;0.989	D;D	0.75020	0.983;0.985	T	0.55386	-0.8149	10	0.26408	T	0.33	-22.0738	10.5691	0.45190	0.6898:0.3102:0.0:0.0	.	545;527	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	G	545;545;527	ENSP00000387122:R545G	ENSP00000386495:R527G	R	+	1	2	CLEC16A	11041207	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.711000	0.37930	0.307000	0.22880	-0.313000	0.08912	AGG		0.577	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		5	8	0	0	0	0.001168	0	5	8				
PLA2G10	8399	broad.mit.edu	37	16	14766512	14766512	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:14766512G>C	ENST00000438167.3	-	4	889	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	150					arachidonic acid metabolic process (GO:0019369)|axon guidance (GO:0007411)|cholesterol homeostasis (GO:0042632)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lysophospholipid transport (GO:0051977)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|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)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of prostaglandin secretion (GO:0032308)|regulation of macrophage activation (GO:0043030)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)|phospholipase activity (GO:0004620)	p.L150L(1)									GGGGGTAGAAGAGGTACTTTA	0.478																																							uc002dcq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)CTC>CTG		phospholipase A2, group X precursor							218.0	197.0	204.0					16																	14766512		2197	4300	6497	SO:0001819	synonymous_variant	8399				arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr16:14766512G>C	U95301	CCDS10555.1	16p13.1-p12	2008-09-19			ENSG00000069764	ENSG00000069764	3.1.1.4		9029	protein-coding gene	gene with protein product		603603				9188469	Standard	NM_003561		Approved	GXPLA2	uc002dcq.3	O15496	OTTHUMG00000048069	ENST00000438167.3:c.450C>G	16.37:g.14766512G>C							p.L150L	NM_003561	NP_003552	O15496	PA2GX_HUMAN			4	890	-			150					Q14DU3|Q6NT23	Silent	SNP	ENST00000438167.3	37	c.450C>G	CCDS10555.1																																																																																				0.478	PLA2G10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109393.3	NM_003561		34	168	0	0	0	0.012213	0	34	168				
NPIPA1	9284	broad.mit.edu	37	16	15023240	15023240	+	3'UTR	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:15023240G>T	ENST00000472413.1	+	0	2019							Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ATCCTCACGCGCTCCCGCGTG	0.701																																							uc010uzk.1		NA																	0					NA						c.(808-810)CGC>CTC		SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																																				SO:0001624	3_prime_UTR_variant	0							g.chr16:15023240G>T	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000472413.1:c.*2016G>T	16.37:g.15023240G>T						NPIP_uc002dcx.3_RNA	p.R270L							6	1085	+								O15102	Missense_Mutation	SNP	ENST00000472413.1	37	c.809G>T																																																																																					0.701	NPIPA1-002	KNOWN	basic|readthrough_transcript	processed_transcript	protein_coding	OTTHUMT00000207327.1	NM_006985		4	26	1	0	0.00024832	0.009096	0.000265313	4	26				
SMG1	23049	broad.mit.edu	37	16	18856973	18856973	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:18856973T>C	ENST00000446231.2	-	39	6409	c.5997A>G	c.(5995-5997)aaA>aaG	p.K1999K	SMG1_ENST00000389467.3_Splice_Site_p.K1999K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1999					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K1995K(1)|p.K1999K(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTTCTCTTCTCTGACCAAGA	0.363																																							uc002dfm.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(5995-5997)AAA>AAG		PI-3-kinase-related kinase SMG-1							98.0	89.0	92.0					16																	18856973		1871	4120	5991	SO:0001630	splice_region_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18856973T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5997-1A>G	16.37:g.18856973T>C						SMG1_uc010bwb.2_Silent_p.K1859K|SMG1_uc010bwa.2_Silent_p.K730K|SMG1_uc002dfo.3_Silent_p.K297K	p.K1999K	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			39	6360	-			1999					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.5997A>G	CCDS45430.1																																																																																				0.363	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	Silent	8	44	0	0	0	0.00308	0	8	44				
ACSM2A	123876	broad.mit.edu	37	16	20486733	20486733	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:20486733A>C	ENST00000573854.1	+	7	1058	c.944A>C	c.(943-945)tAc>tCc	p.Y315S	ACSM2A_ENST00000219054.6_Missense_Mutation_p.Y315S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Y315S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Y315S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Y236S|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Y87S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	315					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.Y315S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCATTGTTTACCGGATGTTG	0.507																																							uc010bwe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(943-945)TAC>TCC		acyl-CoA synthetase medium-chain family member							179.0	147.0	158.0					16																	20486733		2203	4298	6501	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20486733A>C	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.944A>C	16.37:g.20486733A>C	ENSP00000459451:p.Tyr315Ser					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.Y236S|ACSM2A_uc002dhf.3_Missense_Mutation_p.Y315S|ACSM2A_uc002dhg.3_Missense_Mutation_p.Y315S|ACSM2A_uc010vay.1_Missense_Mutation_p.Y236S|ACSM2A_uc002dhh.3_5'Flank	p.Y315S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			8	1183	+			315					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.944A>C	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852110	0.32699	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	3.36	2.22	0.28083	AMP-dependent synthetase/ligase (1);	0.167805	0.28527	N	0.015027	T	0.65863	0.2732	M	0.91038	3.17	0.49483	D	0.999797	D;D	0.76494	0.999;0.999	D;D	0.76071	0.985;0.987	T	0.65693	-0.6106	10	0.87932	D	0	-7.2051	6.9649	0.24617	0.636:0.0:0.0:0.364	.	236;315	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	S	236;315;87;315	ENSP00000392169:Y236S;ENSP00000219054:Y315S;ENSP00000445082:Y87S;ENSP00000379411:Y315S	ENSP00000219054:Y315S	Y	+	2	0	ACSM2A	20394234	0.991000	0.36638	0.862000	0.33874	0.401000	0.30781	1.077000	0.30741	0.359000	0.24239	0.248000	0.18094	TAC		0.507	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		8	51	0	0	0	0.004482	0	8	51				
OTOA	146183	broad.mit.edu	37	16	21698923	21698923	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:21698923A>T	ENST00000286149.4	+	7	590	c.589A>T	c.(589-591)Aca>Tca	p.T197S	OTOA_ENST00000388958.3_Missense_Mutation_p.T197S|OTOA_ENST00000388956.4_Missense_Mutation_p.T118S			Q7RTW8	OTOAN_HUMAN	otoancorin	197					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.T197S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCAGACATCACAGAGCGGCT	0.527																																							uc002djh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(589-591)ACA>TCA		otoancorin isoform 1							48.0	45.0	46.0					16																	21698923		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698923A>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.589A>T	16.37:g.21698923A>T	ENSP00000286149:p.Thr197Ser					uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.T118S	p.T197S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	7	590	+			197					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.589A>T		.	.	.	.	.	.	.	.	.	.	A	7.604	0.673402	0.14776	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12774	2.65;2.65;2.65	4.46	-0.571	0.11749	.	0.533189	0.18258	N	0.146740	T	0.09598	0.0236	L	0.40543	1.245	0.09310	N	0.999999	B;B	0.27140	0.169;0.102	B;B	0.30401	0.115;0.115	T	0.25984	-1.0116	10	0.34782	T	0.22	0.0202	4.4269	0.11507	0.5141:0.1696:0.3163:0.0	.	118;197	B3KWU3;E9PF51	.;.	S	197;197;118	ENSP00000373610:T197S;ENSP00000286149:T197S;ENSP00000373608:T118S	ENSP00000286149:T197S	T	+	1	0	OTOA	21606424	0.000000	0.05858	0.078000	0.20375	0.149000	0.21700	-0.208000	0.09371	-0.150000	0.11195	0.451000	0.29950	ACA		0.527	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			11	46	0	0	0	0.010729	0	11	46				
PRKCB	5579	broad.mit.edu	37	16	23848711	23848711	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:23848711G>T	ENST00000321728.7	+	2	364	c.189G>T	c.(187-189)caG>caT	p.Q63H	PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000303531.7_Missense_Mutation_p.Q63H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	63					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)	p.Q63H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCGGGAAGCAGGGATTCCAGT	0.547																																							uc002dmd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(187-189)CAG>CAT		protein kinase C, beta isoform 1	Vitamin E(DB00163)						112.0	121.0	118.0					16																	23848711		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.chr16:23848711G>T	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.189G>T	16.37:g.23848711G>T	ENSP00000318315:p.Gln63His					PRKCB_uc002dme.2_Missense_Mutation_p.Q63H	p.Q63H	NM_212535	NP_997700	P05771	KPCB_HUMAN			2	386	+			63			Phorbol-ester/DAG-type 1.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.189G>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114134	0.77210	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.94537	-3.45;-3.45	4.88	1.59	0.23543	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.64402	D	0.000002	D	0.96358	0.8812	M	0.93106	3.38	0.58432	D	0.999998	P;D	0.57257	0.929;0.979	P;P	0.56648	0.702;0.803	D	0.94284	0.7522	10	0.62326	D	0.03	.	7.0065	0.24840	0.3614:0.0:0.6386:0.0	.	63;63	P05771-2;P05771	.;KPCB_HUMAN	H	63	ENSP00000318315:Q63H;ENSP00000305355:Q63H	ENSP00000305355:Q63H	Q	+	3	2	PRKCB	23756212	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	0.566000	0.23593	0.098000	0.17522	0.655000	0.94253	CAG		0.547	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		41	185	1	0	1.32136e-16	0.00874	1.75536e-16	41	185				
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000543915.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L|IL4R_ENST00000170630.2_Missense_Mutation_p.S783L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612																																							uc002don.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2347-2349)TCG>TTG		interleukin 4 receptor alpha chain isoform a							55.0	57.0	56.0					16																	27375021		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27375021C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2348C>T	16.37:g.27375021C>T	ENSP00000379111:p.Ser783Leu					IL4R_uc002dop.3_Missense_Mutation_p.S768L|IL4R_uc010bxy.2_Missense_Mutation_p.S783L|IL4R_uc002doo.2_Missense_Mutation_p.S623L	p.S783L	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	2590	+			783			Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.2348C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	4.491	0.090993	0.08632	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09445	2.99;2.99;2.98;2.99	4.71	-0.119	0.13543	.	7.036920	0.00166	N	0.000000	T	0.06508	0.0167	N	0.05510	-0.035	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.33343	-0.9872	10	0.28530	T	0.3	-0.8167	7.3275	0.26563	0.0:0.4711:0.0:0.5289	.	768;783;783	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	L	783;783;768;783	ENSP00000379111:S783L;ENSP00000441667:S783L;ENSP00000370309:S768L;ENSP00000170630:S783L	ENSP00000170630:S783L	S	+	2	0	IL4R	27282522	0.000000	0.05858	0.008000	0.14137	0.707000	0.40811	-0.251000	0.08818	-0.005000	0.14395	-0.469000	0.05056	TCG		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			14	75	0	0	0	0.001855	0	14	75				
MAZ	4150	broad.mit.edu	37	16	29819948	29819948	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:29819948G>A	ENST00000322945.6	+	4	1330	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568544.1_5'UTR|AC009133.14_ENST00000569981.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Missense_Mutation_p.E84K|MAZ_ENST00000219782.6_Missense_Mutation_p.E389K|MAZ_ENST00000545521.1_Missense_Mutation_p.E366K|MAZ_ENST00000569978.1_5'UTR|MAZ_ENST00000568282.1_5'UTR|AC009133.14_ENST00000563806.1_RNA|AC009133.20_ENST00000569039.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	389				E -> K (in Ref. 6; AAN03800). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E389K(2)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTACGACACGAGGAGAAAGT	0.582																																					Colon(72;875 1167 15364 30899 37091)	Colon(72;875 1167 15364 30899 37091)	uc002dty.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1165-1167)GAG>AAG		MYC-associated zinc finger protein isoform 1							42.0	44.0	43.0					16																	29819948		2140	4247	6387	SO:0001583	missense	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29819948G>A	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1165G>A	16.37:g.29819948G>A	ENSP00000313362:p.Glu389Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.E366K|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.E389K|MAZ_uc010bzg.2_Missense_Mutation_p.E84K|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_5'UTR|MAZ_uc010vdy.1_5'UTR	p.E389K	NM_002383	NP_002374	P56270	MAZ_HUMAN			4	1333	+			389					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.1165G>A	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039906	0.97226	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.14893	2.47;2.47;4.58	5.3	5.3	0.74995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	M	0.63843	1.955	0.80722	D	1	D;P;D;D	0.89917	1.0;0.744;0.971;1.0	D;B;P;D	0.77004	0.943;0.115;0.49;0.989	T	0.10870	-1.0611	10	0.62326	D	0.03	-8.7448	16.8298	0.85941	0.0:0.0:1.0:0.0	.	366;164;389;389	C6G496;F5H7A6;P56270;G5E927	.;.;MAZ_HUMAN;.	K	366;389;389;164	ENSP00000443956:E366K;ENSP00000313362:E389K;ENSP00000219782:E389K	ENSP00000219782:E389K	E	+	1	0	MAZ	29727449	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.485000	0.81204	2.648000	0.89879	0.655000	0.94253	GAG		0.582	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		3	27	0	0	0	0.004672	0	3	27				
SRCAP	10847	broad.mit.edu	37	16	30732215	30732216	+	Missense_Mutation	DNP	GG	GG	TT	rs141288104		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:30732215_30732216GG>TT	ENST00000262518.4	+	20	3554_3555	c.3169_3170GG>TT	c.(3169-3171)GGg>TTg	p.G1057L	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1057L|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1057L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1057	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.G1057L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCACCTGCCGGGCCCCCGCTT	0.639																																							uc002dze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3169-3171)GGG>TTG		Snf2-related CBP activator protein																																				SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732215_30732216GG>TT	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	Exception_encountered	16.37:g.30732215_30732216delinsTT	ENSP00000262518:p.Gly1057Leu					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.G914L|SRCAP_uc010bzz.1_Missense_Mutation_p.G627L	p.G1057L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		20	3554_3555	+			1057			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	DNP	ENST00000262518.4	37	c.3169_3170GG>TT	CCDS10689.2																																																																																				0.639	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		15	79	0	0	0	0.004672	0	15	79				
ITGAD	3681	broad.mit.edu	37	16	31422674	31422674	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:31422674C>A	ENST00000389202.2	+	14	1592	c.1543C>A	c.(1543-1545)Cac>Aac	p.H515N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	515					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.H515N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAGCAGGGCCACCCCTGGGG	0.622																																							uc002ebv.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1543-1545)CAC>AAC		integrin, alpha D precursor							109.0	110.0	110.0					16																	31422674		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422674C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1543C>A	16.37:g.31422674C>A	ENSP00000373854:p.His515Asn					ITGAD_uc010cap.1_Missense_Mutation_p.H516N	p.H515N	NM_005353	NP_005344	Q13349	ITAD_HUMAN			14	1592	+			515			FG-GAP 6.|Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1543C>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146245	0.37923	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.11169	2.8	4.49	3.52	0.40303	.	.	.	.	.	T	0.18676	0.0448	M	0.86178	2.8	0.31251	N	0.694026	B;B	0.32365	0.367;0.367	B;B	0.35813	0.211;0.211	T	0.07083	-1.0791	9	0.52906	T	0.07	.	8.923	0.35623	0.0:0.8898:0.0:0.1102	.	531;515	Q59H14;Q13349	.;ITAD_HUMAN	N	531;515	ENSP00000373854:H515N	ENSP00000373854:H515N	H	+	1	0	ITGAD	31330175	0.961000	0.32948	1.000000	0.80357	0.834000	0.47266	0.756000	0.26419	2.022000	0.59522	0.407000	0.27541	CAC		0.622	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		52	147	1	0	6.03219e-31	0.01441	8.41378e-31	52	147				
COQ9	57017	broad.mit.edu	37	16	57490421	57490421	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:57490421G>C	ENST00000262507.6	+	4	453	c.384G>C	c.(382-384)ctG>ctC	p.L128L	COQ9_ENST00000567072.1_Silent_p.L128L|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	128					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.L128L(3)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGTAGTCTCTGGGTCTCTCCA	0.512																																							uc002elq.2		NA																	3	Substitution - coding silent(3)		lung(3)	breast(1)	1						c.(382-384)CTG>CTC		coenzyme Q9 homolog precursor							122.0	109.0	114.0					16																	57490421		2198	4300	6498	SO:0001819	synonymous_variant	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57490421G>C	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.384G>C	16.37:g.57490421G>C						COQ9_uc010vhn.1_Silent_p.L128L|COQ9_uc010vho.1_Silent_p.L128L|COQ9_uc010vhp.1_Silent_p.L128L|COQ9_uc002elr.2_Silent_p.L128L|COQ9_uc002els.2_5'Flank	p.L128L	NM_020312	NP_064708	O75208	COQ9_HUMAN			4	400	+			128					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Silent	SNP	ENST00000262507.6	37	c.384G>C	CCDS32459.1																																																																																				0.512	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		47	60	0	0	0	0.01441	0	47	60				
DRC7	84229	broad.mit.edu	37	16	57761225	57761225	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:57761225G>A	ENST00000360716.3	+	16	2321	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC135_ENST00000394337.4_Silent_p.L700L|CCDC135_ENST00000336825.8_Silent_p.L635L			Q8IY82	CC135_HUMAN		700					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.L700L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGATTCTGAAGCTTCGAG	0.552																																							uc002emi.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2098-2100)CTG>CTA		coiled-coil domain containing 135							116.0	113.0	114.0					16																	57761225		2198	4300	6498	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57761225G>A																												ENST00000360716.3:c.2100G>A	16.37:g.57761225G>A						CCDC135_uc002emj.2_Silent_p.L700L|CCDC135_uc002emk.2_Silent_p.L635L	p.L700L	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			15	2189	+			700			Potential.		A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.2100G>A	CCDS10787.1																																																																																				0.552	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			20	91	0	0	0	0.008871	0	20	91				
CES4A	283848	broad.mit.edu	37	16	67034819	67034819	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:67034819C>G	ENST00000326686.5	+	4	462	c.462C>G	c.(460-462)ggC>ggG	p.G154G	CES4A_ENST00000398354.1_Silent_p.G154G|CES4A_ENST00000541479.1_Silent_p.G177G|CES4A_ENST00000338718.4_Silent_p.G177G|CES4A_ENST00000540579.1_Silent_p.G56G|CES4A_ENST00000535696.1_Silent_p.G56G|CES4A_ENST00000540947.2_Silent_p.G154G			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	154						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.G154G(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CGTACGAGGGCTCTGACTTGG	0.662																																							uc002eqv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)GGC>GGG		carboxylesterase 8 (putative)							22.0	25.0	24.0					16																	67034819		2007	4145	6152	SO:0001819	synonymous_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67034819C>G	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.462C>G	16.37:g.67034819C>G						CES8_uc010vix.1_Silent_p.G154G|CES8_uc002eqw.2_Silent_p.G154G|CES8_uc002eqy.2_Silent_p.G56G|CES8_uc002eqx.2_5'UTR|CES8_uc010viy.1_Silent_p.G56G|CES8_uc010viz.1_Silent_p.G56G	p.G154G	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN			4	505	+			154					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37	c.462C>G																																																																																					0.662	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		12	17	0	0	0	0.013537	0	12	17				
EXOC3L1	283849	broad.mit.edu	37	16	67218614	67218614	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:67218614G>C	ENST00000314586.6	-	13	2245	c.2005C>G	c.(2005-2007)Ctg>Gtg	p.L669V	KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	669					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)		p.L669V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGTTGCCGCAGGCCAGCCACC	0.716																																							uc002erx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2005-2007)CTG>GTG		exocyst complex component 3-like							21.0	28.0	26.0					16																	67218614		2174	4280	6454	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67218614G>C	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.2005C>G	16.37:g.67218614G>C	ENSP00000325674:p.Leu669Val					KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Missense_Mutation_p.L320V|EXOC3L_uc002ery.1_Missense_Mutation_p.P601R|EXOC3L_uc010vje.1_Missense_Mutation_p.P596R	p.L669V	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)	13	2246	-		Ovarian(137;0.0563)	669					A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.2005C>G	CCDS10832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.77|11.77	1.737956|1.737956	0.30774|0.30774	.|.	.|.	ENSG00000179044|ENSG00000179044	ENST00000314586|ENST00000545725;ENST00000314553	T|T	0.08720|0.10099	3.06|2.91	5.01|5.01	-0.0292|-0.0292	0.13919|0.13919	.|.	0.164545|.	0.42682|.	D|.	0.000664|.	T|T	0.14485|0.14485	0.0350|0.0350	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	0.999999|0.999999	P|B;B	0.47484|0.33777	0.896|0.372;0.425	P|B;B	0.48952|0.36608	0.596|0.147;0.229	T|T	0.17992|0.17992	-1.0351|-1.0351	10|9	0.66056|0.66056	D|D	0.02|0.02	-3.0125|-3.0125	8.5312|8.5312	0.33335|0.33335	0.5206:0.0:0.4794:0.0|0.5206:0.0:0.4794:0.0	.|.	669|596;596	Q86VI1|F5H4W1;B7Z6U0	EX3L1_HUMAN|.;.	V|R	669|596;601	ENSP00000325674:L669V|ENSP00000439910:P596R	ENSP00000325674:L669V|ENSP00000325008:P601R	L|P	-|-	1|2	2|0	EXOC3L1|EXOC3L1	65776115|65776115	0.010000|0.010000	0.17322|0.17322	0.138000|0.138000	0.22173|0.22173	0.649000|0.649000	0.38597|0.38597	-0.207000|-0.207000	0.09384|0.09384	-0.019000|-0.019000	0.14055|0.14055	-0.143000|-0.143000	0.13931|0.13931	CTG|CCT		0.716	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		15	49	0	0	0	0.00245	0	15	49				
PLA2G15	23659	broad.mit.edu	37	16	68289811	68289811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:68289811G>A	ENST00000219345.5	+	5	728	c.645G>A	c.(643-645)tgG>tgA	p.W215*	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.E174K|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Nonsense_Mutation_p.W121*	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	215					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.W215*(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGCAGGCCTGGAAGGACAAGT	0.632																																							uc002evr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(643-645)TGG>TGA		lysophospholipase 3 (lysosomal phospholipase A2)							30.0	34.0	32.0					16																	68289811		2198	4300	6498	SO:0001587	stop_gained	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68289811G>A	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.645G>A	16.37:g.68289811G>A	ENSP00000219345:p.Trp215*					PLA2G15_uc010vld.1_Missense_Mutation_p.E174K|PLA2G15_uc010vle.1_Nonsense_Mutation_p.W121*|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_Nonsense_Mutation_p.W36*	p.W215*	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN			5	728	+			215					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Nonsense_Mutation	SNP	ENST00000219345.5	37	c.645G>A	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533492	0.85812	.	.	ENSG00000103066	ENST00000413021;ENST00000219345	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.6089	19.2502	0.93921	0.0:0.0:1.0:0.0	.	.	.	.	X	121;215	.	ENSP00000219345:W215X	W	+	3	0	PLA2G15	66847312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.641000	0.89580	0.591000	0.81541	TGG		0.632	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		17	35	0	0	0	0.006122	0	17	35				
SLC7A6	9057	broad.mit.edu	37	16	68309111	68309111	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:68309111C>A	ENST00000566454.1	+	4	751	c.482C>A	c.(481-483)cCc>cAc	p.P161H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.P161H	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6									p.P161H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		AGCTGTGATCCCCCATACCTG	0.572																																							uc002evt.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(481-483)CCC>CAC		solute carrier family 7 (cationic amino acid							103.0	92.0	96.0					16																	68309111		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68309111C>A	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.482C>A	16.37:g.68309111C>A	ENSP00000455064:p.Pro161His					SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.P161H|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	p.P161H	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	4	791	+		Ovarian(137;0.0563)	161			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000566454.1	37	c.482C>A	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693601	0.88735	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.90197	-2.63;-2.63	5.76	5.76	0.90799	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	M	0.86805	2.84	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.96066	0.9042	10	0.72032	D	0.01	.	17.5215	0.87789	0.0:1.0:0.0:0.0	.	161	Q92536	YLAT2_HUMAN	H	161	ENSP00000219343:P161H;ENSP00000368448:P161H	ENSP00000219343:P161H	P	+	2	0	SLC7A6	66866612	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	7.654000	0.83653	2.718000	0.92993	0.650000	0.86243	CCC		0.572	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		18	88	1	0	8.00594e-06	0.007413	8.9558e-06	18	88				
TANGO6	79613	broad.mit.edu	37	16	68941453	68941453	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:68941453G>T	ENST00000261778.1	+	10	1787	c.1775G>T	c.(1774-1776)gGa>gTa	p.G592V		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	592						integral component of membrane (GO:0016021)		p.G121V(2)|p.G592V(2)									GGTTTGGCAGGAGACTTCTTC	0.502																																							uc002ewi.3		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1774-1776)GGA>GTA		transmembrane and coiled-coil domains 7							80.0	78.0	78.0					16																	68941453		1885	4108	5993	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68941453G>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1775G>T	16.37:g.68941453G>T	ENSP00000261778:p.Gly592Val						p.G592V	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	10	1787	+		Ovarian(137;0.0568)	592					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.1775G>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538156	0.85917	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.56	5.56	0.83823	Armadillo-type fold (1);	0.147842	0.64402	D	0.000010	T	0.77883	0.4197	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.79097	-0.1943	9	0.66056	D	0.02	-19.3654	16.7947	0.85598	0.0:0.0:1.0:0.0	.	592	Q9C0B7	TMCO7_HUMAN	V	592	.	ENSP00000261778:G592V	G	+	2	0	TMCO7	67498954	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.529000	0.73812	2.778000	0.95560	0.655000	0.94253	GGA		0.502	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		15	21	1	0	2.31682e-05	0.003163	2.54658e-05	15	21				
CLEC18B	497190	broad.mit.edu	37	16	74443757	74443757	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:74443757C>A	ENST00000339953.5	-	11	1352	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	411	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCCCATGGCAGCACTCAGC	0.632																																							uc002fct.2		NA																	0					0						c.(1231-1233)GCC>TCC		C-type lectin domain family 18, member B							23.0	25.0	24.0					16																	74443757		2192	4298	6490	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443757C>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1231G>T	16.37:g.74443757C>A	ENSP00000341051:p.Ala411Ser					CLEC18B_uc002fcu.2_Intron	p.A411S	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN			11	1431	-			411			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1231G>T	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	3.840	-0.033963	0.07543	.	.	ENSG00000140839	ENST00000339953	T	0.18174	2.23	2.51	-0.175	0.13315	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.548380	0.05822	U	0.615869	T	0.06005	0.0156	N	0.02539	-0.55	0.09310	N	1	B	0.20988	0.05	B	0.13407	0.009	T	0.37731	-0.9693	10	0.17832	T	0.49	.	4.4955	0.11835	0.0:0.5003:0.0:0.4997	.	411	Q6UXF7	CL18B_HUMAN	S	411	ENSP00000341051:A411S	ENSP00000341051:A411S	A	-	1	0	CLEC18B	73001258	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.625000	0.05534	-0.013000	0.14199	0.430000	0.28490	GCC		0.632	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		5	60	1	0	5.18039e-06	0.00308	5.81293e-06	5	60				
SLC38A8	146167	broad.mit.edu	37	16	84050323	84050323	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:84050323C>T	ENST00000299709.3	-	8	962	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	321					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.M321I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAGTCCTGCATCACTGACC	0.677																																							uc002fhg.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(961-963)ATG>ATA		solute carrier family 38, member 8							38.0	42.0	40.0					16																	84050323		2199	4300	6499	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050323C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.963G>A	16.37:g.84050323C>T	ENSP00000299709:p.Met321Ile						p.M321I	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			8	963	-			321						Missense_Mutation	SNP	ENST00000299709.3	37	c.963G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.753556	0.00663	.	.	ENSG00000166558	ENST00000299709	T	0.01854	4.6	4.36	1.56	0.23342	.	0.718177	0.14396	N	0.322191	T	0.01061	0.0035	N	0.04746	-0.17	0.29190	N	0.875916	B	0.06786	0.001	B	0.04013	0.001	T	0.45264	-0.9273	10	0.07175	T	0.84	.	7.069	0.25167	0.0:0.6243:0.2693:0.1065	.	321	A6NNN8	S38A8_HUMAN	I	321	ENSP00000299709:M321I	ENSP00000299709:M321I	M	-	3	0	SLC38A8	82607824	0.998000	0.40836	1.000000	0.80357	0.256000	0.26092	0.303000	0.19210	1.986000	0.57962	0.478000	0.44815	ATG		0.677	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		17	31	0	0	0	0.00499	0	17	31				
ITGAE	3682	broad.mit.edu	37	17	3651249	3651249	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:3651249C>G	ENST00000263087.4	-	17	2220	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	708					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.E708Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGATTTCAAAACATAAA	0.542																																					NSCLC(182;635 2928 8995 38788)	NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|breast(1)|pancreas(1)	4						c.(2122-2124)GAA>CAA		integrin, alpha E precursor							84.0	78.0	80.0					17																	3651249		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3651249C>G	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2122G>C	17.37:g.3651249C>G	ENSP00000263087:p.Glu708Gln						p.E708Q	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	17	2221	-			708			Extracellular (Potential).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2122G>C	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	3.600	-0.081875	0.07141	.	.	ENSG00000083457	ENST00000263087	T	0.59502	0.26	4.59	3.59	0.41128	Integrin alpha-2 (1);	.	.	.	.	T	0.44871	0.1314	L	0.40543	1.245	0.25766	N	0.984898	B	0.24768	0.111	B	0.20577	0.03	T	0.26121	-1.0112	9	0.18276	T	0.48	.	9.6042	0.39624	0.0:0.8971:0.0:0.1029	.	708	P38570	ITAE_HUMAN	Q	708	ENSP00000263087:E708Q	ENSP00000263087:E708Q	E	-	1	0	ITGAE	3597998	0.978000	0.34361	0.949000	0.38748	0.012000	0.07955	0.877000	0.28106	1.217000	0.43442	0.650000	0.86243	GAA		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		8	32	0	0	0	0.00308	0	8	32				
CAMKK1	84254	broad.mit.edu	37	17	3786361	3786361	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:3786361T>A	ENST00000348335.2	-	6	771	c.623A>T	c.(622-624)cAc>cTc	p.H208L	CAMKK1_ENST00000158166.5_Missense_Mutation_p.H208L|CAMKK1_ENST00000381771.2_Missense_Mutation_p.H208L|CAMKK1_ENST00000381769.2_Missense_Mutation_p.H235L	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.H208L(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CACATTCACGTGGTCCAGCTT	0.642																																							uc002fwt.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(622-624)CAC>CTC		calcium/calmodulin-dependent protein kinase 1							106.0	78.0	87.0					17																	3786361		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3786361T>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.623A>T	17.37:g.3786361T>A	ENSP00000323118:p.His208Leu					CAMKK1_uc002fwu.2_Missense_Mutation_p.H208L|CAMKK1_uc002fwv.2_Missense_Mutation_p.H208L	p.H208L	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	6	717	-			208			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.623A>T	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710495	0.89018	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93094	0.6502	10	0.87932	D	0	-21.3785	13.4235	0.61011	0.0:0.0:0.0:1.0	.	208;208	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	L	235;208;208;208	ENSP00000371188:H235L;ENSP00000323118:H208L;ENSP00000371190:H208L;ENSP00000158166:H208L	ENSP00000158166:H208L	H	-	2	0	CAMKK1	3733110	1.000000	0.71417	0.971000	0.41717	0.944000	0.59088	5.984000	0.70548	2.064000	0.61679	0.528000	0.53228	CAC		0.642	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		26	33	0	0	0	0.005443	0	26	33				
UBE2G1	7326	broad.mit.edu	37	17	4186205	4186205	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:4186205C>T	ENST00000396981.2	-	5	603	c.438G>A	c.(436-438)agG>agA	p.R146R	UBE2G1_ENST00000572484.1_Silent_p.R75R	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	146					protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511)	extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.R146R(2)		large_intestine(2)|lung(4)|skin(1)	7						TTCTATCTTCCCTCCATTCTT	0.323																																							uc002fxs.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(436-438)AGG>AGA		ubiquitin-conjugating enzyme E2G 1							79.0	75.0	76.0					17																	4186205		2202	4298	6500	SO:0001819	synonymous_variant	7326				protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr17:4186205C>T	BC026288	CCDS32532.1	17p13.2	2014-05-30	2011-05-19		ENSG00000132388	ENSG00000132388		"""Ubiquitin-conjugating enzymes E2"""	12482	protein-coding gene	gene with protein product		601569	"""ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)"""	UBE2G		8893823	Standard	NM_003342		Approved	UBC7	uc002fxs.3	P62253	OTTHUMG00000177826	ENST00000396981.2:c.438G>A	17.37:g.4186205C>T							p.R146R	NM_003342	NP_003333	P62253	UB2G1_HUMAN			5	796	-			146					B2R7P2|D3DTK0|Q99462	Silent	SNP	ENST00000396981.2	37	c.438G>A	CCDS32532.1																																																																																				0.323	UBE2G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439099.1	NM_003342		3	7	0	0	0	0.004672	0	3	7				
NLRP1	22861	broad.mit.edu	37	17	5463332	5463332	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:5463332C>T	ENST00000572272.1	-	4	683	c.684G>A	c.(682-684)gaG>gaA	p.E228E	NLRP1_ENST00000577119.1_Silent_p.E228E|NLRP1_ENST00000354411.3_Silent_p.E228E|NLRP1_ENST00000269280.4_Silent_p.E228E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Silent_p.E228E|NLRP1_ENST00000262467.5_Silent_p.E228E			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	228					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCTGCCTTTCTCTGATTTCT	0.488																																							uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(682-684)GAG>GAA		NLR family, pyrin domain containing 1 isoform 1							25.0	29.0	28.0					17																	5463332		2193	4293	6486	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5463332C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.684G>A	17.37:g.5463332C>T						NLRP1_uc002gcg.1_Silent_p.E228E|NLRP1_uc002gck.2_Silent_p.E228E|NLRP1_uc002gcj.2_Silent_p.E228E|NLRP1_uc002gcl.2_Silent_p.E228E|NLRP1_uc002gch.3_Silent_p.E228E|NLRP1_uc010clh.2_Silent_p.E228E	p.E228E	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			4	1239	-		Colorectal(1115;3.48e-05)	228					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.684G>A	CCDS42246.1																																																																																				0.488	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		7	28	0	0	0	0.001984	0	7	28				
SLC13A5	284111	broad.mit.edu	37	17	6606404	6606404	+	Silent	SNP	G	G	T	rs142320179		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:6606404G>T	ENST00000433363.2	-	5	834	c.601C>A	c.(601-603)Cgg>Agg	p.R201R	SLC13A5_ENST00000573648.1_Silent_p.R201R|SLC13A5_ENST00000381074.4_Silent_p.R158R|SLC13A5_ENST00000293800.6_Silent_p.R184R	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	201					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)	p.R201R(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AACCTCTTCCGCTCTTGGTCT	0.632																																							uc002gdj.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(601-603)CGG>AGG		solute carrier family 13, member 5 isoform a							141.0	115.0	124.0					17																	6606404		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6606404G>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.601C>A	17.37:g.6606404G>T						SLC13A5_uc010vtf.1_Silent_p.R201R|SLC13A5_uc010clq.2_Silent_p.R158R|SLC13A5_uc002gdk.2_Silent_p.R184R|SLC13A5_uc002gdl.1_Silent_p.R183R	p.R201R	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			5	689	-			201					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.601C>A	CCDS11079.1																																																																																				0.632	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		39	59	1	0	3.78316e-11	0.00623	4.72732e-11	39	59				
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:7578550G>C	ENST00000269305.4	-	5	569	c.380C>G	c.(379-381)tCc>tGc	p.S127C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.S127C|TP53_ENST00000420246.2_Missense_Mutation_p.S127C|TP53_ENST00000455263.2_Missense_Mutation_p.S127C|TP53_ENST00000445888.2_Missense_Mutation_p.S127C|TP53_ENST00000359597.4_Missense_Mutation_p.S127C	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	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)	GAGGGCAGGGGAGTACTGTAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	p.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(379-381)TCC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							44.0	44.0	44.0					17																	7578550		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578550G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.380C>G	17.37:g.7578550G>C	ENSP00000269305:p.Ser127Cys	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.S127C|TP53_uc002gih.2_Missense_Mutation_p.S127C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127C|TP53_uc010cni.1_Missense_Mutation_p.S127C|TP53_uc002gij.2_Missense_Mutation_p.S127C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34C|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88C	p.S127C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	574	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (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.380C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211240	0.79240	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4	5.48	4.51	0.55191	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.988;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127C;ENSP00000352610:S127C;ENSP00000269305:S127C;ENSP00000398846:S127C;ENSP00000391127:S127C;ENSP00000391478:S127C;ENSP00000423862:S34C;ENSP00000424104:S127C;ENSP00000426252:S127C	ENSP00000269305:S127C	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	15	0	0	0	0.007413	0	19	15				
MYH4	4622	broad.mit.edu	37	17	10361031	10361031	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:10361031A>G	ENST00000255381.2	-	16	1713	c.1603T>C	c.(1603-1605)Tcc>Ccc	p.S535P	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	535	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.S535P(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTAGGATGGAGAAGATGCCC	0.403																																							uc002gmn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1603-1605)TCC>CCC		myosin, heavy polypeptide 4, skeletal muscle							106.0	107.0	107.0					17																	10361031		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10361031A>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1603T>C	17.37:g.10361031A>G	ENSP00000255381:p.Ser535Pro					uc002gml.1_Intron	p.S535P	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			16	1714	-			535			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1603T>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573388	0.86542	.	.	ENSG00000141048	ENST00000255381	T	0.74526	-0.85	5.19	5.19	0.71726	Myosin head, motor domain (3);	0.000000	0.37304	U	0.002154	D	0.88466	0.6444	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90977	0.4824	10	0.87932	D	0	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	535	Q9Y623	MYH4_HUMAN	P	535	ENSP00000255381:S535P	ENSP00000255381:S535P	S	-	1	0	MYH4	10301756	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.076000	0.94009	2.100000	0.63781	0.402000	0.26972	TCC		0.403	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		9	40	0	0	0	0.004482	0	9	40				
MYH4	4622	broad.mit.edu	37	17	10367852	10367852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:10367852G>T	ENST00000255381.2	-	7	695	c.585C>A	c.(583-585)taC>taA	p.Y195*	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	195	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.Y195*(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGCAAAGTACTGGATGA	0.428																																							uc002gmn.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(583-585)TAC>TAA		myosin, heavy polypeptide 4, skeletal muscle							102.0	98.0	99.0					17																	10367852		2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10367852G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.585C>A	17.37:g.10367852G>T	ENSP00000255381:p.Tyr195*					uc002gml.1_Intron	p.Y195*	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			7	696	-			195			Myosin head-like.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.585C>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198728	0.94997	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.12	3.09	0.35607	.	0.000000	0.34268	U	0.004112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2563	0.54625	0.1471:0.0:0.8529:0.0	.	.	.	.	X	195	.	ENSP00000255381:Y195X	Y	-	3	2	MYH4	10308577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.764000	0.62264	1.278000	0.44430	0.650000	0.86243	TAC		0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		14	23	1	0	2.32078e-09	0.003163	2.8199e-09	14	23				
MAP2K4	6416	broad.mit.edu	37	17	12028689	12028689	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:12028689G>C	ENST00000353533.5	+	8	954		c.e8+1		MAP2K4_ENST00000415385.3_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCACATTGGTATGTTTATG	0.403			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																		uc002gnj.2		NA		Rec	yes		17	17p11.2	6416	D|Mis|N	mitogen-activated protein kinase kinase 4			E			pancreatic|breast|colorectal		13	Whole gene deletion(10)|Unknown(3)	p.?(1)	ovary(4)|breast(4)|lung(3)|biliary_tract(1)|pancreas(1)	large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58						c.e8+1		mitogen-activated protein kinase kinase 4							237.0	183.0	201.0					17																	12028689		2203	4300	6503	SO:0001630	splice_region_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12028689G>C	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.891+1G>C	17.37:g.12028689G>C						MAP2K4_uc002gnk.2_Splice_Site_p.L308_splice|MAP2K4_uc010vvi.1_Splice_Site_p.L179_splice|MAP2K4_uc010vvj.1_Splice_Site_p.L169_splice	p.L297_splice	NM_003010	NP_003001	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	8	960	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)						B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	SNP	ENST00000353533.5	37	c.891_splice	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396247	0.83011	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8064	0.88602	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K4	11969414	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.561000	0.98142	2.814000	0.96858	0.563000	0.77884	.		0.403	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		Intron	17	27	0	0	0	0.004007	0	17	27				
RAI1	10743	broad.mit.edu	37	17	17699745	17699745	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:17699745G>A	ENST00000353383.1	+	3	3952	c.3483G>A	c.(3481-3483)cgG>cgA	p.R1161R	RAI1_ENST00000261641.6_Silent_p.R1161R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1161					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.R1161R(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAGCGGCGGAGGCCCTCTG	0.632																																							uc002grm.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3481-3483)CGG>CGA		retinoic acid induced 1							40.0	45.0	44.0					17																	17699745		2203	4299	6502	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699745G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3483G>A	17.37:g.17699745G>A						RAI1_uc002grn.1_Silent_p.R1161R	p.R1161R	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3952	+			1161			Nuclear localization signal (Potential).		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.3483G>A	CCDS11188.1																																																																																				0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		17	58	0	0	0	0.004007	0	17	58				
EVPLL	645027	broad.mit.edu	37	17	18284947	18284947	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:18284947G>A	ENST00000399134.4	+	4	607	c.249G>A	c.(247-249)caG>caA	p.Q83Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	83								p.Q83Q(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGTGACCCAGGAGTGTGCGG	0.657																																							uc002gte.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(247-249)CAG>CAA		envoplakin-like							124.0	115.0	118.0					17																	18284947		692	1591	2283	SO:0001819	synonymous_variant	645027							g.chr17:18284947G>A		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.249G>A	17.37:g.18284947G>A							p.Q83Q	NM_001145127	NP_001138599	A8MZ36	EVPLL_HUMAN			4	504	+			83			Potential.		B4DPD4	Silent	SNP	ENST00000399134.4	37	c.249G>A	CCDS45626.1																																																																																				0.657	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		14	30	0	0	0	0.004007	0	14	30				
CCDC144CP	348254	broad.mit.edu	37	17	18513562	18513562	+	IGR	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:18513562C>G								CCDC144B (3858 upstream) : TBC1D28 (24756 downstream)																							TCTTGGATCTCTGACAAGTCT	0.353																																							uc002gub.1		NA																	0				ovary(1)|skin(1)	2						c.(457-459)CAG>CAC		coiled-coil domain containing 144B							113.0	109.0	110.0					17																	18513562		1842	4091	5933	SO:0001628	intergenic_variant	284047							g.chr17:18513562C>G																													17.37:g.18513562C>G						CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.Q153H	p.Q153H	NM_182568	NP_872374					3	544	-									Missense_Mutation	SNP		37	c.459G>C																																																																																				0	0.353									8	47	0	0	0	0.00308	0	8	47				
MAPK7	5598	broad.mit.edu	37	17	19282274	19282274	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:19282274G>T	ENST00000308406.5	+	2	447	c.61G>T	c.(61-63)Gtg>Ttg	p.V21L	B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.V21L|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.V21L|MAPK7_ENST00000299612.7_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	21	Required for cytoplasmic targeting. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.V21L(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCGGGCCCGTGAAGGCCGA	0.657																																							uc002gvn.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(61-63)GTG>TTG		mitogen-activated protein kinase 7 isoform 1							24.0	26.0	26.0					17																	19282274		2202	4298	6500	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 activity|protein binding	g.chr17:19282274G>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.61G>T	17.37:g.19282274G>T	ENSP00000311005:p.Val21Leu					B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Intron|MAPK7_uc002gvq.2_Missense_Mutation_p.V21L|MAPK7_uc002gvp.2_Missense_Mutation_p.V21L	p.V21L	NM_139033	NP_620602	Q13164	MK07_HUMAN			2	447	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		21			Required for cytoplasmic targeting (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.61G>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108833	0.56398	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.70749	-0.51;-0.3;-0.51;-0.51	4.66	4.66	0.58398	.	0.563389	0.15703	N	0.248818	T	0.49508	0.1561	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	T	0.37731	-0.9693	10	0.51188	T	0.08	-3.1426	8.9097	0.35546	0.1003:0.0:0.8997:0.0	.	21	Q13164	MK07_HUMAN	L	21	ENSP00000311005:V21L;ENSP00000412902:V21L;ENSP00000378968:V21L;ENSP00000378966:V21L	ENSP00000311005:V21L	V	+	1	0	MAPK7	19222867	0.911000	0.30947	0.337000	0.25536	0.811000	0.45836	5.812000	0.69194	2.578000	0.87016	0.557000	0.71058	GTG		0.657	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		6	10	1	0	0.00198382	0.001984	0.00206488	6	10				
KCNJ12	3768	broad.mit.edu	37	17	21319507	21319507	+	Silent	SNP	C	C	A	rs143946927		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:21319507C>A	ENST00000583088.1	+	3	1748	c.853C>A	c.(853-855)Cgg>Agg	p.R285R	KCNJ12_ENST00000331718.5_Silent_p.R285R	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	285				Missing (in Ref. 1; AAA65122). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGGCATCAGCCGGCAGGACCT	0.622										Prostate(3;0.18)																													uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(853-855)CGG>AGG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						99.0	86.0	90.0					17																	21319507		2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319507C>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.853C>A	17.37:g.21319507C>A		Prostate(3;0.18)					p.R285R	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1558	+			285	Missing (in Ref. 1; AAA65122).		Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.853C>A	CCDS11219.1																																																																																				0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		10	92	1	0	3.86212e-05	0.008291	4.21639e-05	10	92				
NOS2	4843	broad.mit.edu	37	17	26094815	26094815	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:26094815G>T	ENST00000313735.6	-	18	2316	c.2083C>A	c.(2083-2085)Ccc>Acc	p.P695T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	695					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.P695T(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TAGAGCTTGGGGATCTGAATG	0.567																																							uc002gzu.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(2083-2085)CCC>ACC		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						77.0	64.0	68.0					17																	26094815		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26094815G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2083C>A	17.37:g.26094815G>T	ENSP00000327251:p.Pro695Thr					NOS2_uc010wab.1_Missense_Mutation_p.P660T	p.P695T	NM_000625	NP_000616	P35228	NOS2_HUMAN			18	2347	-			695					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.2083C>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226223	0.58668	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01981	4.52	5.18	5.18	0.71444	.	0.081428	0.52532	D	0.000069	T	0.06735	0.0172	L	0.41415	1.275	0.39086	D	0.960997	P;D	0.63046	0.911;0.992	P;P	0.58928	0.571;0.848	T	0.53322	-0.8455	10	0.29301	T	0.29	.	17.7391	0.88403	0.0:0.0:1.0:0.0	.	660;695	F8WEM3;P35228	.;NOS2_HUMAN	T	695;656;660	ENSP00000327251:P695T	ENSP00000305638:P660T	P	-	1	0	NOS2	23118942	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.690000	0.61731	2.440000	0.82611	0.456000	0.33151	CCC		0.567	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		10	32	1	0	1.33987e-11	0.008291	1.68295e-11	10	32				
SPAG5	10615	broad.mit.edu	37	17	26919437	26919437	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:26919437C>T	ENST00000321765.5	-	3	1157	c.825G>A	c.(823-825)atG>atA	p.M275I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	275					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.M275I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTCTTTCCTCCATAGCTCCAT	0.473																																							uc002hbq.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(823-825)ATG>ATA		sperm associated antigen 5							119.0	105.0	110.0					17																	26919437		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919437C>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.825G>A	17.37:g.26919437C>T	ENSP00000323300:p.Met275Ile					SGK494_uc010waq.1_Intron	p.M275I	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			3	917	-	Lung NSC(42;0.00431)		275					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.825G>A	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	0.737	-0.777688	0.02929	.	.	ENSG00000076382	ENST00000321765	T	0.20332	2.08	5.32	1.64	0.23874	.	1.117930	0.06683	N	0.768266	T	0.07279	0.0184	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33904	-0.9850	10	0.06099	T	0.92	0.9353	6.2274	0.20716	0.0:0.4785:0.0:0.5215	.	275	Q96R06	SPAG5_HUMAN	I	275	ENSP00000323300:M275I	ENSP00000323300:M275I	M	-	3	0	SPAG5	23943564	0.000000	0.05858	0.210000	0.23637	0.778000	0.44026	-0.130000	0.10498	0.282000	0.22254	0.655000	0.94253	ATG		0.473	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		21	50	0	0	0	0.010504	0	21	50				
SPACA3	124912	broad.mit.edu	37	17	31324729	31324729	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:31324729G>T	ENST00000269053.3	+	5	651		c.e5-1		SPACA3_ENST00000394637.2_Splice_Site|SPACA3_ENST00000394638.1_Splice_Site|SPACA3_ENST00000580599.1_Splice_Site	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.?(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TCCATCCTCAGGGAGGCCTGG	0.532																																							uc002hhs.1		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e5-1		sperm acrosome associated 3							103.0	94.0	97.0					17																	31324729		2203	4300	6503	SO:0001630	splice_region_variant	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31324729G>T	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.582-1G>T	17.37:g.31324729G>T						SPACA3_uc010cte.1_Splice_Site	p.W194_splice	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		5	657	+								Q7Z4Y5	Splice_Site	SNP	ENST00000269053.3	37	c.582_splice	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236630	0.58886	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6978	0.57014	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPACA3	28348842	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.586000	0.67503	2.438000	0.82558	0.561000	0.74099	.		0.532	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847	Intron	28	50	1	0	1.42536e-11	0.004656	1.78878e-11	28	50				
MRPL45	84311	broad.mit.edu	37	17	36453205	36453205	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:36453205G>T	ENST00000312513.5	+	1	217	c.56G>T	c.(55-57)tGg>tTg	p.W19L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	19						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.W19L(2)		breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGGCTGGTGGTTTCGGCAG	0.572																																							uc002hpy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(55-57)TGG>TTG		mitochondrial ribosomal protein L45 precursor							55.0	85.0	75.0					17																	36453205		692	1591	2283	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36453205G>T	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.56G>T	17.37:g.36453205G>T	ENSP00000308901:p.Trp19Leu						p.W19L	NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN			1	208	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	19					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.56G>T	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917054	0.52546	.	.	ENSG00000174100	ENST00000312513	T	0.28666	1.6	4.28	4.28	0.50868	.	.	.	.	.	T	0.27594	0.0678	L	0.60455	1.87	0.28693	N	0.904497	P	0.43094	0.799	B	0.33339	0.162	T	0.24870	-1.0148	9	0.48119	T	0.1	.	12.399	0.55402	0.0:0.0:1.0:0.0	.	19	Q9BRJ2	RM45_HUMAN	L	19	ENSP00000308901:W19L	ENSP00000308901:W19L	W	+	2	0	MRPL45	.	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.599000	0.46231	2.369000	0.80426	0.511000	0.50034	TGG		0.572	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		15	67	1	0	1.99824e-07	0.00499	2.3286e-07	15	67				
KRT23	25984	broad.mit.edu	37	17	39092742	39092742	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:39092742C>A	ENST00000209718.3	-	2	538	c.114G>T	c.(112-114)gcG>gcT	p.A38A	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	38	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A38A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGGCTCCCCCCGCACCGCCAT	0.697																																							uc002hvm.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(112-114)GCG>GCT		keratin 23							27.0	34.0	32.0					17																	39092742		2203	4299	6502	SO:0001819	synonymous_variant	25984					intermediate filament	structural molecule activity	g.chr17:39092742C>A	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.114G>T	17.37:g.39092742C>A						KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.A38A|KRT23_uc002hvn.1_Silent_p.A38A	p.A38A	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			2	703	-		Breast(137;0.000301)|Ovarian(249;0.15)	38			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	c.114G>T	CCDS11380.1																																																																																				0.697	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			32	64	1	0	1.62565e-12	0.012213	2.06332e-12	32	64				
KRT19	3880	broad.mit.edu	37	17	39681167	39681167	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:39681167G>C	ENST00000361566.3	-	3	648	c.588C>G	c.(586-588)gcC>gcG	p.A196A	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	196	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.A196A(1)|p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GGTCGGTCCTGGCCAGGGTCA	0.572																																						Colon(16;42 520 6044 17852 28530)	uc010wfs.1		NA																	2	Deletion - Frameshift(1)|Substitution - coding silent(1)		lung(1)|breast(1)	ovary(2)|lung(2)|breast(1)	5						c.(1075-1077)GCC>GCG		junction plakoglobin							118.0	124.0	122.0					17																	39681167		2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39681167G>C		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.588C>G	17.37:g.39681167G>C						KRT19_uc002hxd.3_Silent_p.A196A	p.A359A	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	6	1085	-		Breast(137;0.000162)	Error:Variant_position_missing_in_P14923_after_alignment					B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	ENST00000361566.3	37	c.1077C>G	CCDS11399.1																																																																																				0.572	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		20	133	0	0	0	0.008871	0	20	133				
TTC25	83538	broad.mit.edu	37	17	40095333	40095333	+	RNA	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40095333G>T	ENST00000591658.1	+	0	1034							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)		p.L322F(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTGGAAACTTGTATAGCTGCA	0.512																																							uc002hyj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(964-966)TTG>TTT		tetratricopeptide repeat domain 25							54.0	56.0	55.0					17																	40095333		2025	4182	6207			83538					cytoplasm	protein binding	g.chr17:40095333G>T	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40095333G>T						TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Intron	p.L322F	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			7	1055	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	322			TPR 5.		Q6NX40|Q6PJ04|Q9H0K5	Missense_Mutation	SNP	ENST00000591658.1	37	c.966G>T																																																																																					0.512	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		9	27	1	0	1.12685e-05	0.004482	1.25378e-05	9	27				
RAB5C	5878	broad.mit.edu	37	17	40280324	40280324	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40280324C>A	ENST00000346213.4	-	4	608	c.396G>T	c.(394-396)gcG>gcT	p.A132A	RAB5C_ENST00000547517.1_Silent_p.A165A|RAB5C_ENST00000393860.3_Silent_p.A132A|CTD-2132N18.3_ENST00000592574.1_Silent_p.A132A	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	132					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A132A(2)		large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCTTGTTACCCGCGAGTGCAA	0.587																																							uc002hyz.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|skin(1)	2						c.(394-396)GCG>GCT		RAB5C, member RAS oncogene family isoform a							139.0	114.0	123.0					17																	40280324		2203	4300	6503	SO:0001819	synonymous_variant	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280324C>A	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.396G>T	17.37:g.40280324C>A						RAB5C_uc002hza.2_Silent_p.A132A|RAB5C_uc010cxx.2_Silent_p.A165A|RAB5C_uc010cxy.2_Silent_p.A44A	p.A132A	NM_201434	NP_958842	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	5	713	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	132					F8W1H5|Q6FH55|Q9P0Y5	Silent	SNP	ENST00000346213.4	37	c.396G>T	CCDS11419.1																																																																																				0.587	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		16	64	1	0	6.31663e-08	0.003163	7.4567e-08	16	64				
GHDC	84514	broad.mit.edu	37	17	40344578	40344578	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40344578C>T	ENST00000301671.8	-	4	1011	c.570G>A	c.(568-570)ctG>ctA	p.L190L	GHDC_ENST00000593209.1_Silent_p.L190L|GHDC_ENST00000428494.2_Silent_p.L151L|GHDC_ENST00000436923.2_Silent_p.L190L|GHDC_ENST00000587427.1_Silent_p.L190L|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000414034.3_Silent_p.L190L			Q8N2G8	GHDC_HUMAN	GH3 domain containing	190						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L190L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGGGGACCTCAGTGCGTCCA	0.652																																							uc002hzd.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(568-570)CTG>CTA		LGP1 homolog isoform 1							53.0	58.0	56.0					17																	40344578		2201	4299	6500	SO:0001819	synonymous_variant	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344578C>T	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.570G>A	17.37:g.40344578C>T						GHDC_uc002hzg.1_Silent_p.L190L|GHDC_uc010wgg.1_Silent_p.L151L|GHDC_uc002hze.3_Silent_p.L190L|GHDC_uc002hzf.3_Silent_p.L190L|GHDC_uc010cxz.2_RNA	p.L190L	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	4	1054	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	190					B4DQS4|E9PDB5|Q9BXM6	Silent	SNP	ENST00000301671.8	37	c.570G>A	CCDS11422.1																																																																																				0.652	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		32	105	0	0	0	0.010818	0	32	105				
NAGLU	4669	broad.mit.edu	37	17	40695718	40695718	+	Missense_Mutation	SNP	G	G	T	rs104894598		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:40695718G>T	ENST00000225927.2	+	6	1795	c.1694G>T	c.(1693-1695)cGg>cTg	p.R565L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	565			R -> P (in MPS3B; does not yield active enzyme). {ECO:0000269|PubMed:10094189, ECO:0000269|PubMed:12202988, ECO:0000269|PubMed:15933803}.|R -> Q (in MPS3B). {ECO:0000269|PubMed:9950362}.|R -> W (in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B). {ECO:0000269|PubMed:10094189, ECO:0000269|PubMed:11286389, ECO:0000269|PubMed:11836372, ECO:0000269|PubMed:12202988, ECO:0000269|PubMed:16151907, ECO:0000269|PubMed:9832037}.		carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GACCTCACTCGGCAGGCAGTG	0.632																																							uc002hzv.2		NA																	0					0	GRCh37	CM990925|CM992357	NAGLU	M	rs104894598	c.(1693-1695)CGG>CTG		alpha-N-acetylglucosaminidase precursor	N-Acetyl-D-glucosamine(DB00141)						28.0	26.0	27.0					17																	40695718		2202	4298	6500	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695718G>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1694G>T	17.37:g.40695718G>T	ENSP00000225927:p.Arg565Leu						p.R565L	NM_000263	NP_000254	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2034	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	565		R -> Q (in MPS3B).|R -> W (in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B).|R -> P (in MPS3B; does not yield active enzyme).				Missense_Mutation	SNP	ENST00000225927.2	37	c.1694G>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298083	0.81025	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.99376	-5.79	4.69	4.69	0.59074	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98278	1.0507	10	0.87932	D	0	-29.3608	16.7273	0.85426	0.0:0.0:1.0:0.0	.	565	P54802	ANAG_HUMAN	L	565;241	ENSP00000225927:R565L	ENSP00000225927:R565L	R	+	2	0	NAGLU	37949244	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	9.333000	0.96459	2.605000	0.88082	0.561000	0.74099	CGG		0.632	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		3	41	1	0	6.4e-05	0.004672	6.95722e-05	3	41				
SLC4A1	6521	broad.mit.edu	37	17	42335826	42335826	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42335826G>C	ENST00000262418.6	-	10	1197	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	348	Dimerization arm.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.Q348E(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCTGGACTGATAGCGCCTT	0.637																																							uc002igf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1042-1044)CAG>GAG		solute carrier family 4, anion exchanger, member							104.0	108.0	107.0					17																	42335826		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335826G>C		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1042C>G	17.37:g.42335826G>C	ENSP00000262418:p.Gln348Glu					SLC4A1_uc002igg.3_Missense_Mutation_p.Q348E	p.Q348E	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	10	1191	-		Breast(137;0.014)|Prostate(33;0.0181)	348			Cytoplasmic.		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1042C>G	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.157850	0.00321	.	.	ENSG00000004939	ENST00000262418	T	0.73047	-0.71	4.68	1.21	0.21127	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.921029	0.09194	N	0.835578	T	0.51991	0.1707	L	0.29908	0.895	0.25657	N	0.98604	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.0	T	0.34129	-0.9841	10	0.02654	T	1	.	8.9067	0.35528	0.0822:0.0:0.646:0.2718	.	348;348	E2RVJ0;P02730	.;B3AT_HUMAN	E	348	ENSP00000262418:Q348E	ENSP00000262418:Q348E	Q	-	1	0	SLC4A1	39691352	0.373000	0.25073	0.373000	0.26003	0.060000	0.15804	0.863000	0.27913	0.543000	0.28864	0.306000	0.20318	CAG		0.637	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		24	139	0	0	0	0.00333	0	24	139				
SLC4A1	6521	broad.mit.edu	37	17	42336924	42336924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42336924G>A	ENST00000262418.6	-	8	790	c.635C>T	c.(634-636)tCa>tTa	p.S212L	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	212	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.S212L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCAGATGGTGAGTGCCCTTC	0.602																																							uc002igf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(634-636)TCA>TTA		solute carrier family 4, anion exchanger, member							87.0	80.0	83.0					17																	42336924		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42336924G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.635C>T	17.37:g.42336924G>A	ENSP00000262418:p.Ser212Leu					SLC4A1_uc002igg.3_Missense_Mutation_p.S212L	p.S212L	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	8	784	-		Breast(137;0.014)|Prostate(33;0.0181)	212			Cytoplasmic.		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.635C>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669703	0.29693	.	.	ENSG00000004939	ENST00000262418	T	0.78126	-1.15	4.81	0.423	0.16463	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	1.123620	0.06736	N	0.777458	T	0.62085	0.2399	N	0.21097	0.63	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.004	T	0.46911	-0.9157	10	0.25106	T	0.35	.	5.9898	0.19454	0.2521:0.1412:0.6066:0.0	.	212;212	E2RVJ0;P02730	.;B3AT_HUMAN	L	212	ENSP00000262418:S212L	ENSP00000262418:S212L	S	-	2	0	SLC4A1	39692450	0.003000	0.15002	0.001000	0.08648	0.068000	0.16541	1.253000	0.32886	0.659000	0.30945	-0.381000	0.06696	TCA		0.602	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		12	63	0	0	0	0.013537	0	12	63				
GPATCH8	23131	broad.mit.edu	37	17	42478467	42478467	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:42478467C>T	ENST00000591680.1	-	8	1008	c.978G>A	c.(976-978)ggG>ggA	p.G326G	GPATCH8_ENST00000434000.1_Silent_p.G248G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	326							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G326G(2)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCAGAGGTCCCTTCCTCCG	0.448											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002igw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(976-978)GGG>GGA		G patch domain containing 8							144.0	154.0	150.0					17																	42478467		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478467C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.978G>A	17.37:g.42478467C>T			OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.1_Silent_p.G248G|GPATCH8_uc010wiz.1_Silent_p.G248G	p.G326G	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	1042	-		Prostate(33;0.0181)	326					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.978G>A	CCDS32666.1																																																																																				0.448	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		37	145	0	0	0	0.003755	0	37	145				
KIF18B	146909	broad.mit.edu	37	17	43012664	43012664	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:43012664T>C	ENST00000593135.1	-	3	531	c.434A>G	c.(433-435)cAg>cGg	p.Q145R	KIF18B_ENST00000339151.4_Missense_Mutation_p.Q145R|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q154R|KIF18B_ENST00000438933.2_Missense_Mutation_p.Q145R|KIF18B_ENST00000587309.1_Missense_Mutation_p.Q145R	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	154	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q145R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGCTTCTCCTGCTGGCGGGC	0.657																																							uc010wji.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(433-435)CAG>CGG		kinesin family member 18B							37.0	45.0	42.0					17																	43012664		1986	4145	6131	SO:0001583	missense	146909							g.chr17:43012664T>C		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.434A>G	17.37:g.43012664T>C	ENSP00000465992:p.Gln145Arg					KIF18B_uc002iht.2_Missense_Mutation_p.Q145R|KIF18B_uc010wjh.1_Missense_Mutation_p.Q145R	p.Q145R	NM_001080443	NP_001073912					3	535	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.434A>G	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586008	0.46110	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72505	-0.66;-0.66	5.5	5.5	0.81552	Kinesin, motor domain (4);	0.216928	0.23261	N	0.050135	T	0.60573	0.2279	N	0.20881	0.62	0.30647	N	0.755784	B;B;B	0.13145	0.007;0.005;0.005	B;B;B	0.23150	0.044;0.026;0.026	T	0.62859	-0.6765	10	0.59425	D	0.04	.	15.2709	0.73699	0.0:0.0:0.0:1.0	.	154;154;154	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	R	145	ENSP00000412798:Q145R;ENSP00000341466:Q145R	ENSP00000341466:Q145R	Q	-	2	0	KIF18B	40368190	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	7.975000	0.88055	2.097000	0.63578	0.454000	0.30748	CAG		0.657	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	36	0	0	0	0.004672	0	3	36				
ACBD4	79777	broad.mit.edu	37	17	43213514	43213514	+	Start_Codon_SNP	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:43213514G>T	ENST00000376955.4	+	2	300	c.3G>T	c.(1-3)atG>atT	p.M1I	ACBD4_ENST00000321854.8_Start_Codon_SNP_p.M1I|ACBD4_ENST00000586346.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000398322.3_Start_Codon_SNP_p.M1I|ACBD4_ENST00000592162.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000431281.1_Start_Codon_SNP_p.M1I|ACBD4_ENST00000591859.1_Start_Codon_SNP_p.M1I	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	1							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						GCAGCAGCATGGGCACCGAGA	0.627																																							uc002iid.2		NA																	0				ovary(1)|kidney(1)	2						c.(1-3)ATG>ATT		acyl-Coenzyme A binding domain containing 4							33.0	40.0	38.0					17																	43213514		2000	4171	6171	SO:0001582	initiator_codon_variant	79777						fatty-acyl-CoA binding	g.chr17:43213514G>T	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.3G>T	17.37:g.43213514G>T	ENSP00000366154:p.Met1Ile					ACBD4_uc010wjj.1_Missense_Mutation_p.M1I|ACBD4_uc002iie.2_Missense_Mutation_p.M1I|ACBD4_uc002iif.2_Missense_Mutation_p.M1I|ACBD4_uc002iic.2_Missense_Mutation_p.M1I|ACBD4_uc010dae.2_5'UTR	p.M1I	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN			2	347	+			1					D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	c.3G>T	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056903	0.93846	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	T;T;T;T	0.17854	2.37;2.61;2.61;2.25	5.94	5.94	0.96194	.	0.288673	0.32357	N	0.006203	T	0.45756	0.1358	.	.	.	0.80722	D	1	D;P;D	0.67145	0.996;0.936;0.996	P;P;D	0.75484	0.889;0.885;0.986	T	0.36237	-0.9756	9	0.87932	D	0	4.391	17.8571	0.88767	0.0:0.0:1.0:0.0	.	1;1;1	Q8NC06-3;Q8NC06;Q8NC06-2	.;ACBD4_HUMAN;.	I	1	ENSP00000405969:M1I;ENSP00000314440:M1I;ENSP00000381367:M1I;ENSP00000366154:M1I	ENSP00000314440:M1I	M	+	3	0	ACBD4	40569040	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	1.739000	0.38217	2.826000	0.97356	0.561000	0.74099	ATG		0.627	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722	Missense_Mutation	7	30	1	0	0.00198382	0.001984	0.00206488	7	30				
CRHR1	1394	broad.mit.edu	37	17	43910522	43910522	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:43910522G>T	ENST00000398285.3	+	10	876	c.876G>T	c.(874-876)agG>agT	p.R292S	CRHR1_ENST00000339069.5_Missense_Mutation_p.R162S|CRHR1_ENST00000293493.7_Missense_Mutation_p.R88S|CRHR1_ENST00000314537.5_Missense_Mutation_p.R263S|CRHR1_ENST00000352855.5_Missense_Mutation_p.R223S|CRHR1_ENST00000577353.1_Missense_Mutation_p.R263S	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	292					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGGCAAAAGGCCTGGGGTGT	0.617																																					Ovarian(110;57 1568 10207 38216 49865)	Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2		NA																	0				lung(3)	3						c.(874-876)AGG>AGT		corticotropin releasing hormone receptor 1							125.0	131.0	129.0					17																	43910522		1993	4154	6147	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43910522G>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.876G>T	17.37:g.43910522G>T	ENSP00000381333:p.Arg292Ser					CRHR1_uc010wjx.1_Missense_Mutation_p.R88S|CRHR1_uc002ijp.2_Missense_Mutation_p.R162S|CRHR1_uc002ijm.2_Missense_Mutation_p.R263S|CRHR1_uc002ijn.2_Missense_Mutation_p.R223S|CRHR1_uc010dar.2_Missense_Mutation_p.R263S|CRHR1_uc010dao.2_Missense_Mutation_p.R162S|CRHR1_uc010daq.2_Missense_Mutation_p.R88S	p.R292S	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	10	1141	+	Colorectal(2;0.0416)		292			Extracellular (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.876G>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779653	0.31502	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.37915	1.27;1.17;1.27;1.27;1.27	5.2	3.16	0.36331	GPCR, family 2-like (1);	0.340418	0.30168	N	0.010259	T	0.12135	0.0295	N	0.01751	-0.74	0.46298	D	0.998975	P;P;B;B;B;B	0.36183	0.486;0.542;0.006;0.118;0.337;0.337	B;B;B;B;B;B	0.36030	0.149;0.216;0.027;0.105;0.098;0.149	T	0.07986	-1.0744	10	0.23302	T	0.38	.	4.54	0.12052	0.1841:0.0:0.6313:0.1846	.	263;292;162;162;223;263	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	S	88;162;292;263;263;223	ENSP00000293493:R88S;ENSP00000340522:R162S;ENSP00000381333:R292S;ENSP00000326060:R263S;ENSP00000344068:R223S	ENSP00000293493:R88S	R	+	3	2	CRHR1	41266303	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	1.228000	0.32588	0.541000	0.28827	0.561000	0.74099	AGG		0.617	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			12	144	1	0	1.36491e-13	0.001855	1.75696e-13	12	144				
EFCAB13	124989	broad.mit.edu	37	17	45447856	45447856	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:45447856G>C	ENST00000331493.2	+	11	1270	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E191Q	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	287						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E287Q(1)									TGAGCTACAGGAACAGTATGA	0.274																																							uc002iln.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(859-861)GAA>CAA		hypothetical protein LOC124989							152.0	159.0	157.0					17																	45447856		2203	4299	6502	SO:0001583	missense	124989						calcium ion binding	g.chr17:45447856G>C	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.859G>C	17.37:g.45447856G>C	ENSP00000332111:p.Glu287Gln					C17orf57_uc002ilm.2_Missense_Mutation_p.E191Q|C17orf57_uc002ill.1_Missense_Mutation_p.E43Q|C17orf57_uc010daz.1_Missense_Mutation_p.E239Q	p.E287Q	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			11	1270	+			287					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.859G>C	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.726154	0.00694	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.61392	1.19;0.11	3.86	-1.0	0.10196	.	1.553470	0.04325	N	0.351416	T	0.21801	0.0525	N	0.00583	-1.355	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.002	T	0.08066	-1.0740	10	0.31617	T	0.26	-14.9462	2.6723	0.05070	0.1698:0.3553:0.3654:0.1095	.	239;287;191	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	Q	287;191;239	ENSP00000332111:E287Q;ENSP00000430048:E191Q	ENSP00000332111:E287Q	E	+	1	0	C17orf57	42802855	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.207000	0.09384	-0.229000	0.09854	-1.058000	0.02302	GAA		0.274	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		3	22	0	0	0	0.004672	0	3	22				
TBX21	30009	broad.mit.edu	37	17	45822468	45822468	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:45822468C>A	ENST00000177694.1	+	6	1555	c.1344C>A	c.(1342-1344)ttC>ttA	p.F448L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	448					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F448L(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAGCTGGTTCCGCCCTATGC	0.677																																							uc002ilv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1342-1344)TTC>TTA		T-box 21							25.0	27.0	26.0					17																	45822468		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822468C>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1344C>A	17.37:g.45822468C>A	ENSP00000177694:p.Phe448Leu						p.F448L	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1555	+			448						Missense_Mutation	SNP	ENST00000177694.1	37	c.1344C>A	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241585	0.22711	.	.	ENSG00000073861	ENST00000177694	D	0.84442	-1.85	5.48	0.199	0.15175	.	0.744624	0.12691	N	0.447220	T	0.71195	0.3311	L	0.28115	0.83	0.40022	D	0.975428	B	0.06786	0.001	B	0.08055	0.003	T	0.55068	-0.8198	10	0.14252	T	0.57	.	7.234	0.26059	0.0:0.5452:0.0:0.4548	.	448	Q9UL17	TBX21_HUMAN	L	448	ENSP00000177694:F448L	ENSP00000177694:F448L	F	+	3	2	TBX21	43177467	0.297000	0.24408	0.911000	0.35937	0.957000	0.61999	0.274000	0.18680	0.036000	0.15547	0.655000	0.94253	TTC		0.677	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		17	36	1	0	1.99824e-07	0.00499	2.3286e-07	17	36				
PNPO	55163	broad.mit.edu	37	17	46019090	46019090	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:46019090G>A	ENST00000225573.4	+	1	154	c.49G>A	c.(49-51)Gag>Aag	p.E17K	PNPO_ENST00000434554.2_Missense_Mutation_p.E17K|PNPO_ENST00000544840.1_Missense_Mutation_p.E17K|PNPO_ENST00000534893.1_5'UTR|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	17					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						GCGACCTGCCGAGTGGCCAGG	0.706																																							uc002imo.2		NA																	0					0						c.(49-51)GAG>AAG		pyridoxine 5'-phosphate oxidase	Pyridoxal Phosphate(DB00114)						16.0	14.0	15.0					17																	46019090		2138	4193	6331	SO:0001583	missense	55163				pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	g.chr17:46019090G>A	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.49G>A	17.37:g.46019090G>A	ENSP00000225573:p.Glu17Lys					PNPO_uc010wkz.1_Missense_Mutation_p.E17K|PNPO_uc010wla.1_5'UTR|PNPO_uc010wlb.1_Missense_Mutation_p.E17K	p.E17K	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN			1	202	+			17					B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	ENST00000225573.4	37	c.49G>A	CCDS11522.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944323	0.53079	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840	T;T;T	0.72725	-0.68;-0.68;-0.68	4.98	0.128	0.14733	.	1.386070	0.04308	N	0.348487	T	0.44623	0.1302	N	0.08118	0	0.20196	N	0.999926	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38520	-0.9657	10	0.02654	T	1	-19.0041	5.4966	0.16805	0.1458:0.3241:0.5301:0.0	.	17;17;17	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	K	17	ENSP00000225573:E17K;ENSP00000399960:E17K;ENSP00000446182:E17K	ENSP00000225573:E17K	E	+	1	0	PNPO	43374089	0.007000	0.16637	0.002000	0.10522	0.695000	0.40330	0.322000	0.19576	-0.078000	0.12730	-0.300000	0.09419	GAG		0.706	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	NM_018129		3	3	0	0	0	0.004672	0	3	3				
CACNA1G	8913	broad.mit.edu	37	17	48655845	48655845	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:48655845G>T	ENST00000359106.5	+	9	2221	c.2221G>T	c.(2221-2223)Gac>Tac	p.D741Y	CACNA1G_ENST00000416767.4_Missense_Mutation_p.D741Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000352832.5_Missense_Mutation_p.D741Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D741Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D741Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D741Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D741Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D741Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D741Y	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	741					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AAAGATTGTGGACAGCAAGTA	0.597																																							uc002irk.1		NA																	0				breast(1)	1						c.(2221-2223)GAC>TAC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						77.0	80.0	79.0					17																	48655845		2028	4203	6231	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655845G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2221G>T	17.37:g.48655845G>T	ENSP00000352011:p.Asp741Tyr					CACNA1G_uc002iri.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irj.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irl.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irm.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irn.1_Missense_Mutation_p.D741Y|CACNA1G_uc002iro.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irp.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irq.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irr.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irs.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irt.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irv.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irw.1_Missense_Mutation_p.D741Y|CACNA1G_uc002iru.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irx.1_Missense_Mutation_p.D654Y|CACNA1G_uc002iry.1_Missense_Mutation_p.D654Y|CACNA1G_uc002irz.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isa.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isb.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isc.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isd.1_Missense_Mutation_p.D654Y|CACNA1G_uc002ise.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isf.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isg.1_Missense_Mutation_p.D654Y|CACNA1G_uc002ish.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isi.1_Missense_Mutation_p.D654Y	p.D741Y	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		9	2593	+	Breast(11;6.7e-17)		741			Cytoplasmic (Potential).|II.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.2221G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.044271	0.75732	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97186	-4.16;-4.17;-4.28;-4.12;-4.16;-4.16;-4.18;-4.26;-4.24;-4.24;-4.25;-4.12;-4.14;-4.2;-4.14;-4.11;-4.18;-4.14;-4.13;-4.18;-4.17;-4.14;-4.18;-4.12;-4.18;-4.18	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0;0.912;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.995;0.999	D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D	0.91635	0.997;0.99;0.999;0.998;0.991;0.999;0.998;0.999;0.998;0.542;0.999;0.993;0.99;0.999;0.998;0.984;0.971;0.996;0.998;0.992;0.996;0.984;0.999;0.99;0.887;0.987	D	0.99474	1.0946	10	0.72032	D	0.01	.	18.2558	0.90019	0.0:0.0:1.0:0.0	.	741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741;741	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	Y	741	ENSP00000353990:D741Y;ENSP00000339302:D741Y;ENSP00000392390:D741Y;ENSP00000347078:D741Y;ENSP00000409759:D741Y;ENSP00000425522:D741Y;ENSP00000426261:D741Y;ENSP00000425451:D741Y;ENSP00000422407:D741Y;ENSP00000426814:D741Y;ENSP00000427238:D741Y;ENSP00000423112:D741Y;ENSP00000420918:D741Y;ENSP00000426172:D741Y;ENSP00000423045:D741Y;ENSP00000427173:D741Y;ENSP00000426098:D741Y;ENSP00000425698:D741Y;ENSP00000426232:D741Y;ENSP00000423317:D741Y;ENSP00000350979:D741Y;ENSP00000352011:D741Y;ENSP00000414388:D741Y;ENSP00000423155:D741Y;ENSP00000422268:D741Y;ENSP00000421518:D741Y	ENSP00000339302:D741Y	D	+	1	0	CACNA1G	46010844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.030000	0.88816	2.311000	0.77944	0.655000	0.94253	GAC		0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	73	1	0	3.07112e-06	0.010729	3.46216e-06	12	73				
ABCC3	8714	broad.mit.edu	37	17	48761448	48761448	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:48761448C>G	ENST00000285238.8	+	28	4173	c.4093C>G	c.(4093-4095)Cag>Gag	p.Q1365E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1365	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		Q -> R (in dbSNP:rs11568590).		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)	p.Q1365E(2)		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)	CCTGCGCTCTCAGCTGACCAT	0.602																																							uc002isl.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(4093-4095)CAG>GAG		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						50.0	41.0	44.0					17																	48761448		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.chr17:48761448C>G	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.4093C>G	17.37:g.48761448C>G	ENSP00000285238:p.Gln1365Glu					ABCC3_uc002isn.2_Missense_Mutation_p.Q119E	p.Q1365E	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		28	4173	+			1365			Cytoplasmic (By similarity).|ABC transporter 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.4093C>G	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607408	0.46527	.	.	ENSG00000108846	ENST00000285238	D	0.92965	-3.14	5.24	-0.787	0.10943	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.315286	0.32357	N	0.006217	D	0.85839	0.5790	L	0.28694	0.88	0.26759	N	0.970034	B	0.25206	0.12	B	0.31016	0.123	T	0.79502	-0.1777	10	0.87932	D	0	-10.5377	10.995	0.47571	0.6819:0.2183:0.0998:0.0	.	1365	O15438	MRP3_HUMAN	E	1365	ENSP00000285238:Q1365E	ENSP00000285238:Q1365E	Q	+	1	0	ABCC3	46116447	0.599000	0.26891	0.187000	0.23214	0.932000	0.56968	2.495000	0.45337	0.265000	0.21872	-0.181000	0.13052	CAG		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		13	34	0	0	0	0.013537	0	13	34				
VEZF1	7716	broad.mit.edu	37	17	56058018	56058018	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:56058018G>C	ENST00000581208.1	-	4	962	c.922C>G	c.(922-924)Cat>Gat	p.H308D	VEZF1_ENST00000584396.1_Missense_Mutation_p.H299D	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	308					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H308D(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTCTGCCCATGAGTCTTTAAG	0.443																																							uc002ivf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(922-924)CAT>GAT		zinc finger protein 161							169.0	136.0	147.0					17																	56058018		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56058018G>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.922C>G	17.37:g.56058018G>C	ENSP00000462337:p.His308Asp					VEZF1_uc010dcn.1_Missense_Mutation_p.H158D	p.H308D	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			4	1065	-			308			C2H2-type 6.			Missense_Mutation	SNP	ENST00000581208.1	37	c.922C>G	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617965	0.87359	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.86289	0.5897	H	0.94734	3.575	0.80722	D	1	D	0.60575	0.988	P	0.60682	0.878	D	0.89659	0.3875	9	0.87932	D	0	-2.1035	19.8071	0.96535	0.0:0.0:1.0:0.0	.	308	Q14119	VEZF1_HUMAN	D	308	.	ENSP00000258963:H308D	H	-	1	0	VEZF1	53413017	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.449000	0.97603	2.689000	0.91719	0.643000	0.83706	CAT		0.443	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			8	56	0	0	0	0.006214	0	8	56				
TRIM37	4591	broad.mit.edu	37	17	57126552	57126552	+	Missense_Mutation	SNP	T	T	C	rs77807605		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57126552T>C	ENST00000262294.7	-	15	1776	c.1517A>G	c.(1516-1518)aAt>aGt	p.N506S	TRIM37_ENST00000393065.2_Missense_Mutation_p.N472S|TRIM37_ENST00000393066.3_Missense_Mutation_p.N506S|TRIM37_ENST00000376149.3_Missense_Mutation_p.N384S	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	506					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N506S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATAATCTTCATTCTGAATCTT	0.363									Mulibrey Nanism																														uc002iwy.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(1516-1518)AAT>AGT		tripartite motif-containing 37 protein							102.0	90.0	94.0					17																	57126552		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57126552T>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1517A>G	17.37:g.57126552T>C	ENSP00000262294:p.Asn506Ser					TRIM37_uc002iwz.3_Missense_Mutation_p.N506S|TRIM37_uc002ixa.3_Missense_Mutation_p.N384S|TRIM37_uc010woc.1_Missense_Mutation_p.N472S	p.N506S	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			15	1961	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		506					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1517A>G	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.350522	0.41599	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.63744	1.7;1.7;-0.06;1.32	5.12	3.97	0.46021	.	0.305630	0.35772	N	0.002984	T	0.42698	0.1214	N	0.14661	0.345	0.37293	D	0.908352	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.005;0.001	T	0.44544	-0.9321	10	0.39692	T	0.17	-6.288	10.0876	0.42428	0.0:0.0:0.1682:0.8317	.	472;384;506	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	S	506;506;384;472	ENSP00000376785:N506S;ENSP00000262294:N506S;ENSP00000365319:N384S;ENSP00000376784:N472S	ENSP00000262294:N506S	N	-	2	0	TRIM37	54481334	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.613000	0.54152	1.921000	0.55644	0.459000	0.35465	AAT		0.363	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		7	31	0	0	0	0.00308	0	7	31				
YPEL2	388403	broad.mit.edu	37	17	57430790	57430790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57430790C>G	ENST00000312655.4	+	2	338	c.20C>G	c.(19-21)tCg>tGg	p.S7W	YPEL2_ENST00000585166.1_Missense_Mutation_p.S7W|YPEL2_ENST00000581865.1_Intron	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	7						nucleus (GO:0005634)		p.S7W(1)		endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGACAAGATCGAAGACTTTC	0.547																																					Melanoma(86;1113 1364 8518 42220 42625)	Melanoma(86;1113 1364 8518 42220 42625)	uc002ixm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TCG>TGG		yippee-like 2							141.0	116.0	124.0					17																	57430790		2203	4300	6503	SO:0001583	missense	388403					nucleolus		g.chr17:57430790C>G	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.20C>G	17.37:g.57430790C>G	ENSP00000312272:p.Ser7Trp					YPEL2_uc002ixl.1_Missense_Mutation_p.S7W	p.S7W	NM_001005404	NP_001005404	Q96QA6	YPEL2_HUMAN			2	348	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		7					A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Missense_Mutation	SNP	ENST00000312655.4	37	c.20C>G	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902787	0.92035	.	.	ENSG00000175155	ENST00000312655	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	L	0.44542	1.39	0.80722	D	1	D	0.56968	0.978	P	0.55260	0.772	T	0.67421	-0.5675	9	0.87932	D	0	-5.9172	19.3249	0.94258	0.0:1.0:0.0:0.0	.	7	Q96QA6	YPEL2_HUMAN	W	7	.	ENSP00000312272:S7W	S	+	2	0	YPEL2	54785572	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	TCG		0.547	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		12	68	0	0	0	0.010729	0	12	68				
TUBD1	51174	broad.mit.edu	37	17	57958297	57958297	+	Silent	SNP	T	T	G	rs142691296		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:57958297T>G	ENST00000592426.1	-	3	495	c.495A>C	c.(493-495)tcA>tcC	p.S165S	TUBD1_ENST00000325752.3_Silent_p.S165S|TUBD1_ENST00000394239.3_Silent_p.S165S|TUBD1_ENST00000376094.4_Silent_p.S165S|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000340993.6_Silent_p.S165S			Q9UJT1	TBD_HUMAN	tubulin, delta 1	165					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S165S(2)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TCATTTTCAATGAGTTTGAGT	0.343																																							uc002ixw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(493-495)TCA>TCC		delta-tubulin							202.0	190.0	195.0					17																	57958297		2203	4300	6503	SO:0001819	synonymous_variant	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57958297T>G	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.495A>C	17.37:g.57958297T>G						TUBD1_uc010ddf.1_Silent_p.S165S|TUBD1_uc010ddg.1_Silent_p.S130S|TUBD1_uc010ddh.1_Silent_p.S46S|TUBD1_uc010wok.1_Silent_p.S165S|TUBD1_uc002ixx.1_Silent_p.S165S|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron	p.S165S	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		4	773	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		165					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Silent	SNP	ENST00000592426.1	37	c.495A>C	CCDS11620.1																																																																																				0.343	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		58	106	0	0	0	0.01441	0	58	106				
BCAS3	54828	broad.mit.edu	37	17	58786579	58786579	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:58786579G>A	ENST00000390652.5	+	5	245		c.e5-1		BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000589222.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.?(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCTAATGCAGATACATCAAG	0.343																																							uc002iyv.3		NA																	2	Unknown(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.e5-1		breast carcinoma amplified sequence 3 isoform 1							95.0	82.0	86.0					17																	58786579		1843	4093	5936	SO:0001630	splice_region_variant	54828					nucleus		g.chr17:58786579G>A	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.215-1G>A	17.37:g.58786579G>A						BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Splice_Site_p.D72_splice|BCAS3_uc002iyw.3_Splice_Site_p.D68_splice	p.D72_splice	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		5	324	+									Splice_Site	SNP	ENST00000390652.5	37	c.215_splice	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200301	0.58126	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7189	0.96135	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCAS3	56141361	1.000000	0.71417	0.997000	0.53966	0.589000	0.36550	6.637000	0.74304	2.750000	0.94351	0.591000	0.81541	.		0.343	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	Intron	14	32	0	0	0	0.003163	0	14	32				
SMURF2	64750	broad.mit.edu	37	17	62558992	62558992	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:62558992C>T	ENST00000262435.9	-	11	1296	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	370					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)	p.R370Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AACCAGGTCTCGCTTGTACCT	0.463																																							uc002jep.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(1)	4						c.(1108-1110)CGA>CAA		SMAD specific E3 ubiquitin protein ligase 2							119.0	100.0	107.0					17																	62558992		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62558992C>T	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1109G>A	17.37:g.62558992C>T	ENSP00000262435:p.Arg370Gln					SMURF2_uc002jeq.1_Missense_Mutation_p.R129Q|SMURF2_uc002jer.1_Missense_Mutation_p.R129Q	p.R370Q	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		11	1497	-	Breast(5;1.32e-14)		370					Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.1109G>A	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794631	0.70452	.	.	ENSG00000108854	ENST00000262435	T	0.49432	0.78	5.82	5.82	0.92795	HECT (1);	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.74822	-0.3534	10	0.87932	D	0	.	20.0851	0.97797	0.0:1.0:0.0:0.0	.	370	Q9HAU4	SMUF2_HUMAN	Q	370	ENSP00000262435:R370Q	ENSP00000262435:R370Q	R	-	2	0	SMURF2	59989454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.745000	0.85046	2.758000	0.94735	0.650000	0.86243	CGA		0.463	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		7	37	0	0	0	0.00308	0	7	37				
RGS9	8787	broad.mit.edu	37	17	63189700	63189700	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:63189700C>T	ENST00000262406.9	+	12	853	c.786C>T	c.(784-786)gcC>gcT	p.A262A	RGS9_ENST00000443584.3_Silent_p.A259A|RGS9_ENST00000449996.3_Silent_p.A259A	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	262	G protein gamma.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.A262A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAACGATGCCATCATGTCAG	0.423																																							uc002jfe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(784-786)GCC>GCT		regulator of G-protein signaling 9 isoform 1							109.0	110.0	110.0					17																	63189700		2034	4184	6218	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63189700C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.786C>T	17.37:g.63189700C>T						RGS9_uc010dem.2_Silent_p.A259A|RGS9_uc002jfd.2_Silent_p.A259A|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.A33A	p.A262A	NM_003835	NP_003826	O75916	RGS9_HUMAN			12	896	+			262			G protein gamma.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.786C>T	CCDS42373.1																																																																																				0.423	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		6	25	0	0	0	0.00308	0	6	25				
ABCA9	10350	broad.mit.edu	37	17	67012515	67012515	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:67012515A>T	ENST00000340001.4	-	22	3129	c.2918T>A	c.(2917-2919)aTa>aAa	p.I973K	ABCA9_ENST00000453985.2_Missense_Mutation_p.I973K|ABCA9_ENST00000370732.2_Missense_Mutation_p.I973K|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	973					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I973K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTACATGCTATTGAAAATCT	0.343																																							uc002jhu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(2917-2919)ATA>AAA		ATP-binding cassette, sub-family A, member 9							121.0	115.0	117.0					17																	67012515		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67012515A>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2918T>A	17.37:g.67012515A>T	ENSP00000342216:p.Ile973Lys					ABCA9_uc010dez.2_Missense_Mutation_p.I973K	p.I973K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			22	3061	-	Breast(10;1.47e-12)		973					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2918T>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505500	0.44558	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87887	-2.2;-2.31	5.1	4.03	0.46877	.	0.428533	0.19665	N	0.108898	D	0.89546	0.6746	M	0.65498	2.005	0.38338	D	0.943981	P;P	0.43607	0.812;0.721	P;P	0.54590	0.642;0.756	D	0.90297	0.4327	10	0.59425	D	0.04	.	8.3267	0.32162	0.9062:0.0:0.0938:0.0	.	973;973	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	973;956;973;968	ENSP00000342216:I973K;ENSP00000359767:I973K	ENSP00000342216:I973K	I	-	2	0	ABCA9	64524110	0.013000	0.17824	0.889000	0.34880	0.339000	0.28857	2.494000	0.45329	1.933000	0.56026	0.482000	0.46254	ATA		0.343	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		4	34	0	0	0	0.009096	0	4	34				
SDK2	54549	broad.mit.edu	37	17	71427710	71427711	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:71427710_71427711CC>AT	ENST00000392650.3	-	11	1410_1411	c.1410_1411GG>AT	c.(1408-1413)gcGGgg>gcATgg	p.G471W	SDK2_ENST00000388726.3_Missense_Mutation_p.G471W	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	471	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G471W(2)|p.A470A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGTAGGTCCCCGCATCGGAGA	0.629																																							uc010dfm.2		NA																	3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)	2						c.(1408-1413)GCGGGG>GCATGG		sidekick 2																																				SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71427710_71427711CC>AT	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1410_1411delinsAT	17.37:g.71427710_71427711delinsAT	ENSP00000376421:p.Gly471Trp					SDK2_uc010dfn.2_Missense_Mutation_p.G150W	p.G471W	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			11	1410_1411	-			471			Ig-like C2-type 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	DNP	ENST00000392650.3	37	c.1410_1411GG>AT	CCDS45769.1																																																																																				0.629	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		63	190	0	0	0	0.004672	0	63	190				
TTYH2	94015	broad.mit.edu	37	17	72233616	72233616	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72233616A>T	ENST00000269346.4	+	4	672	c.598A>T	c.(598-600)Aag>Tag	p.K200*	TTYH2_ENST00000529107.1_Nonsense_Mutation_p.K179*	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	200						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.K200*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGAGCTGACCAAGCTATCCGA	0.572																																							uc002jkc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(598-600)AAG>TAG		tweety 2 isoform 1							73.0	66.0	68.0					17																	72233616		2203	4300	6503	SO:0001587	stop_gained	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72233616A>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.598A>T	17.37:g.72233616A>T	ENSP00000269346:p.Lys200*					TTYH2_uc010wqw.1_Nonsense_Mutation_p.K179*	p.K200*	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			4	629	+			200			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Nonsense_Mutation	SNP	ENST00000269346.4	37	c.598A>T	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337206	0.60963	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	.	.	.	5.52	-1.66	0.08265	.	0.696994	0.14687	N	0.304411	.	.	.	.	.	.	0.48975	D	0.999737	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-5.4414	8.3089	0.32060	0.1932:0.4235:0.3833:0.0	.	.	.	.	X	200;179	.	ENSP00000269346:K200X	K	+	1	0	TTYH2	69745211	0.032000	0.19561	0.687000	0.30102	0.275000	0.26752	0.649000	0.24843	-0.524000	0.06400	-0.242000	0.12053	AAG		0.572	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			11	59	0	0	0	0.013537	0	11	59				
CD300A	11314	broad.mit.edu	37	17	72469792	72469792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72469792C>T	ENST00000360141.3	+	2	446	c.158C>T	c.(157-159)cCa>cTa	p.P53L	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	53	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)	p.P53L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCAGACCACCACAGATTTTC	0.547																																							uc002jkv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(157-159)CCA>CTA		leukocyte membrane antigen							119.0	105.0	110.0					17																	72469792		2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469792C>T	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.158C>T	17.37:g.72469792C>T	ENSP00000353259:p.Pro53Leu					CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron	p.P53L	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			2	479	+			53			Extracellular (Potential).|Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.158C>T	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660913	0.29515	.	.	ENSG00000167851	ENST00000360141	T	0.05786	3.39	4.06	-0.969	0.10310	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.961790	0.01651	N	0.024591	T	0.12902	0.0313	L	0.43554	1.36	0.09310	N	0.999999	D	0.65815	0.995	P	0.61328	0.887	T	0.20605	-1.0270	10	0.32370	T	0.25	.	2.5374	0.04717	0.181:0.3565:0.354:0.1085	.	53	Q9UGN4	CLM8_HUMAN	L	53	ENSP00000353259:P53L	ENSP00000353259:P53L	P	+	2	0	CD300A	69981387	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.174000	0.03105	0.069000	0.16605	0.305000	0.20034	CCA		0.547	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		18	96	0	0	0	0.006122	0	18	96				
FADS6	283985	broad.mit.edu	37	17	72875562	72875562	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:72875562G>A	ENST00000310226.6	-	5	892	c.878C>T	c.(877-879)cCc>cTc	p.P293L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	299					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)	p.P298L(1)|p.P293L(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAGAGCCTGGGGAATAGATG	0.582																																							uc002jmd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(877-879)CCC>CTC		fatty acid desaturase domain family, member 6							58.0	60.0	59.0					17																	72875562		1981	4160	6141	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72875562G>A	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.878C>T	17.37:g.72875562G>A	ENSP00000307821:p.Pro293Leu					FADS6_uc010wrn.1_Missense_Mutation_p.P147L	p.P293L	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			5	890	-	all_lung(278;0.172)|Lung NSC(278;0.207)		299					Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.878C>T	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241300	0.95272	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.54071	0.59	5.54	5.54	0.83059	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75858	-0.3169	10	0.87932	D	0	-7.6559	19.4917	0.95052	0.0:0.0:1.0:0.0	.	147;299	B4DEP0;Q8N9I5	.;FADS6_HUMAN	L	293;147	ENSP00000307821:P293L	ENSP00000307821:P293L	P	-	2	0	FADS6	70387157	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.101000	0.94219	2.589000	0.87451	0.655000	0.94253	CCC		0.582	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			10	53	0	0	0	0.013537	0	10	53				
LLGL2	3993	broad.mit.edu	37	17	73567113	73567113	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:73567113G>T	ENST00000392550.3	+	17	2225	c.2108G>T	c.(2107-2109)cGc>cTc	p.R703L	LLGL2_ENST00000577200.1_Missense_Mutation_p.R703L|LLGL2_ENST00000167462.5_Missense_Mutation_p.R703L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	703					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.R703L(4)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATCGAGGCTCGCTCGGCAGAG	0.657																																							uc002joh.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(2107-2109)CGC>CTC		lethal giant larvae homolog 2 isoform c							68.0	76.0	73.0					17																	73567113		2203	4299	6502	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73567113G>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2108G>T	17.37:g.73567113G>T	ENSP00000376333:p.Arg703Leu					LLGL2_uc002joi.2_Missense_Mutation_p.R703L|LLGL2_uc010dgg.1_Missense_Mutation_p.R703L|LLGL2_uc002joj.2_Missense_Mutation_p.R692L|LLGL2_uc010wsd.1_Missense_Mutation_p.R330L	p.R703L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		17	2262	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		703					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2108G>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449018	0.63178	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.55588	0.51;0.51	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.971;0.997;0.999;0.995;1.0	T	0.77571	-0.2538	10	0.87932	D	0	-0.3696	18.2923	0.90134	0.0:0.0:1.0:0.0	.	330;692;692;703;703	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	L	703;703;692	ENSP00000167462:R703L;ENSP00000376333:R703L	ENSP00000167462:R703L	R	+	2	0	LLGL2	71078708	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.807000	0.99171	2.338000	0.79540	0.555000	0.69702	CGC		0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		57	81	1	0	9.53978e-28	0.01441	1.32553e-27	57	81				
EXOC7	23265	broad.mit.edu	37	17	74094015	74094015	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:74094015C>A	ENST00000335146.7	-	5	555	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	EXOC7_ENST00000405575.4_Missense_Mutation_p.V168L|EXOC7_ENST00000607838.1_Missense_Mutation_p.V168L|EXOC7_ENST00000467929.2_Missense_Mutation_p.V127L|EXOC7_ENST00000411744.2_Missense_Mutation_p.V168L|EXOC7_ENST00000589210.1_Missense_Mutation_p.V168L|EXOC7_ENST00000332065.5_Missense_Mutation_p.V168L			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	168					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)		p.V168L(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AAGATGAGCACGGGCGAGACG	0.592																																							uc002jqs.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(502-504)GTG>TTG		exocyst complex component 7 isoform 4							121.0	102.0	108.0					17																	74094015		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74094015C>A	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.502G>T	17.37:g.74094015C>A	ENSP00000334100:p.Val168Leu					EXOC7_uc010dgv.1_Missense_Mutation_p.V115L|EXOC7_uc002jqq.2_Missense_Mutation_p.V168L|EXOC7_uc010wsw.1_Missense_Mutation_p.V168L|EXOC7_uc010wsx.1_Missense_Mutation_p.V168L|EXOC7_uc002jqr.2_Missense_Mutation_p.V168L|EXOC7_uc010wsv.1_Missense_Mutation_p.V127L|EXOC7_uc002jqu.2_Missense_Mutation_p.V168L	p.V168L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		5	597	-			168					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.502G>T	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797785	0.50208	.	.	ENSG00000182473	ENST00000332065;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116;ENST00000442951	.	.	.	4.99	4.02	0.46733	Cullin repeat-like-containing domain (1);	0.285566	0.34906	N	0.003599	T	0.36552	0.0971	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B;B;B	0.30709	0.009;0.002;0.0;0.0;0.004;0.0;0.291;0.0	B;B;B;B;B;B;B;B	0.36244	0.057;0.015;0.0;0.003;0.011;0.003;0.22;0.002	T	0.14531	-1.0469	9	0.27785	T	0.31	-13.9472	6.1126	0.20110	0.0:0.7449:0.0:0.2551	.	168;168;127;127;168;168;168;168	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	L	168;168;168;168;127;168;168;53;115	.	ENSP00000333806:V168L	V	-	1	0	EXOC7	71605610	0.997000	0.39634	0.931000	0.37212	0.586000	0.36452	2.964000	0.49192	1.324000	0.45282	0.563000	0.77884	GTG		0.592	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		25	111	1	0	3.28513e-13	0.003954	4.20265e-13	25	111				
MFSD11	79157	broad.mit.edu	37	17	74740468	74740468	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:74740468C>T	ENST00000588460.1	+	7	2603	c.561C>T	c.(559-561)ttC>ttT	p.F187F	MFSD11_ENST00000336509.4_Silent_p.F187F|MFSD11_ENST00000355954.3_Silent_p.F135F|MFSD11_ENST00000593181.1_Silent_p.F135F|MFSD11_ENST00000586622.1_Silent_p.F187F|MFSD11_ENST00000590514.1_Silent_p.F187F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	187						integral component of membrane (GO:0016021)		p.F187F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAGTTCTATTCTTTCTCATTC	0.418																																							uc002jta.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(559-561)TTC>TTT		major facilitator superfamily domain containing							159.0	141.0	147.0					17																	74740468		2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74740468C>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.561C>T	17.37:g.74740468C>T						MFSD11_uc002jtb.2_Silent_p.F187F|MFSD11_uc010dha.2_Silent_p.F135F|MFSD11_uc002jtc.2_Silent_p.F187F|MFSD11_uc002jtd.3_Silent_p.F187F|MFSD11_uc010dhb.2_Silent_p.F135F|MFSD11_uc002jte.2_Silent_p.F187F	p.F187F	NM_024311	NP_077287	O43934	MFS11_HUMAN			8	1534	+			187			Helical; (Potential).		O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.561C>T	CCDS11750.1																																																																																				0.418	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		11	67	0	0	0	0.008291	0	11	67				
DNAH17	8632	broad.mit.edu	37	17	76455187	76455187	+	Missense_Mutation	SNP	C	C	G	rs145638188		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:76455187C>G	ENST00000585328.1	-	61	9866	c.9742G>C	c.(9742-9744)Gag>Cag	p.E3248Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E3239Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3239	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E3248Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTAGACCTCGTAGAAGCGG	0.607																																							uc010dhp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(757-759)GAG>CAG		SubName: Full=DNAH17 variant protein; Flags: Fragment;							159.0	161.0	160.0					17																	76455187		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76455187C>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9742G>C	17.37:g.76455187C>G	ENSP00000465516:p.Glu3248Gln					DNAH17_uc002jvs.2_RNA	p.E253Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		6	979	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.757G>C		.	.	.	.	.	.	.	.	.	.	C	17.28	3.350871	0.61183	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.77229	-1.08	5.35	5.35	0.76521	.	0.088021	0.48767	D	0.000164	T	0.79281	0.4419	M	0.71036	2.16	0.43583	D	0.995924	B	0.28636	0.218	B	0.32805	0.153	T	0.76334	-0.2997	10	0.33940	T	0.23	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	3248	E7EUM8	.	Q	3248;3239	ENSP00000374490:E3239Q	ENSP00000300671:E3248Q	E	-	1	0	DNAH17	73966782	0.998000	0.40836	0.987000	0.45799	0.965000	0.64279	3.683000	0.54663	2.491000	0.84063	0.655000	0.94253	GAG		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		11	221	0	0	0	0.004007	0	11	221				
RNF213	57674	broad.mit.edu	37	17	78265440	78265440	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:78265440G>C	ENST00000582970.1	+	8	1428	c.1285G>C	c.(1285-1287)Gac>Cac	p.D429H	RNF213_ENST00000508628.2_Missense_Mutation_p.D478H|RNF213_ENST00000319921.4_Missense_Mutation_p.D429H|RNF213_ENST00000456466.1_Missense_Mutation_p.D429H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	429					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D429H(4)|p.D478H(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTGGGTCATGACCGCGTTCT	0.408																																							uc002jyf.2		NA																	6	Substitution - Missense(6)		lung(6)		NA						c.(1285-1287)GAC>CAC		hypothetical protein LOC57714							136.0	128.0	131.0					17																	78265440		2203	4300	6503	SO:0001583	missense	0							g.chr17:78265440G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1285G>C	17.37:g.78265440G>C	ENSP00000464087:p.Asp429His					uc002jyg.1_Missense_Mutation_p.D160H	p.D429H	NM_020954	NP_066005					8	1428	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.1285G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064454	0.20067	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.91	-9.83	0.00482	.	0.762876	0.10790	N	0.633815	T	0.17492	0.0420	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.07481	-1.0770	9	0.30854	T	0.27	-1.1203	3.9341	0.09298	0.3999:0.1936:0.3312:0.0752	.	429;429	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	H	429;478;429;429	.	ENSP00000324392:D429H	D	+	1	0	RNF213	75880035	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.934000	0.03955	-2.340000	0.00625	0.455000	0.32223	GAC		0.408	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		23	98	0	0	0	0.00278	0	23	98				
RNF213	57674	broad.mit.edu	37	17	78357570	78357570	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:78357570C>T	ENST00000582970.1	+	59	14307	c.14164C>T	c.(14164-14166)Cca>Tca	p.P4722S	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.P2795S|RNF213_ENST00000508628.2_Missense_Mutation_p.P4771S|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4722					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P4771S(1)|p.P2795S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATATGGTGACCCAGTGACCTT	0.468																																							uc002jyh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(8383-8385)CCA>TCA		ring finger protein 213							96.0	87.0	90.0					17																	78357570		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78357570C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14164C>T	17.37:g.78357570C>T	ENSP00000464087:p.Pro4722Ser					uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	p.P2795S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		34	8606	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8383C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818018	0.90790	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.60424	0.19	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.77103	2.36	0.48511	D	0.999667	D	0.89917	1.0	D	0.87578	0.998	T	0.73908	-0.3834	10	0.31617	T	0.26	.	19.0669	0.93114	0.0:1.0:0.0:0.0	.	2795	Q63HN8	RN213_HUMAN	S	4722;4771;2795;72	ENSP00000338218:P2795S	ENSP00000338218:P2795S	P	+	1	0	RNF213	75972165	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.128000	0.77217	2.728000	0.93425	0.655000	0.94253	CCA		0.468	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		3	48	0	0	0	0.004672	0	3	48				
SLC38A10	124565	broad.mit.edu	37	17	79234101	79234101	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:79234101C>T	ENST00000374759.3	-	11	1608	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	SLC38A10_ENST00000546352.1_5'Flank|SLC38A10_ENST00000288439.5_Missense_Mutation_p.A409T	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	409					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A409T(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGCCAGGGGCTTCCTCTGCC	0.657																																							uc002jzz.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1225-1227)GCC>ACC		solute carrier family 38, member 10 isoform a							22.0	26.0	24.0					17																	79234101		2198	4295	6493	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79234101C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1225G>A	17.37:g.79234101C>T	ENSP00000363891:p.Ala409Thr					SLC38A10_uc002jzy.1_Missense_Mutation_p.A327T|SLC38A10_uc002kab.2_Missense_Mutation_p.A409T	p.A409T	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		11	1600	-	all_neural(118;0.0804)|Melanoma(429;0.242)		409					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.1225G>A	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019780	0.54576	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.11063	3.0;2.81	4.62	4.62	0.57501	.	0.671285	0.12339	U	0.477663	T	0.13243	0.0321	L	0.48642	1.525	0.09310	N	1	B;P	0.48503	0.169;0.911	B;B	0.40825	0.034;0.341	T	0.12837	-1.0532	10	0.51188	T	0.08	-9.2599	14.9657	0.71193	0.0:1.0:0.0:0.0	.	409;409	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	T	409	ENSP00000363891:A409T;ENSP00000288439:A409T	ENSP00000288439:A409T	A	-	1	0	SLC38A10	76848696	0.008000	0.16893	0.005000	0.12908	0.057000	0.15508	1.047000	0.30367	2.289000	0.77006	0.462000	0.41574	GCC		0.657	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		10	10	0	0	0	0.008291	0	10	10				
SLC38A10	124565	broad.mit.edu	37	17	79250893	79250893	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr17:79250893C>T	ENST00000374759.3	-	7	1050	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.V223M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	223					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V223M(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATGGTTTTCACTGACGGCTCA	0.572																																							uc002jzz.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(667-669)GTG>ATG		solute carrier family 38, member 10 isoform a							195.0	143.0	161.0					17																	79250893		2203	4300	6503	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79250893C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.667G>A	17.37:g.79250893C>T	ENSP00000363891:p.Val223Met					SLC38A10_uc002jzy.1_Missense_Mutation_p.V141M|SLC38A10_uc002kab.2_Missense_Mutation_p.V223M	p.V223M	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		7	1042	-	all_neural(118;0.0804)|Melanoma(429;0.242)		223					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.667G>A	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557130	0.86231	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.02197	4.4;4.4	4.96	4.96	0.65561	.	0.457457	0.21770	N	0.069379	T	0.08802	0.0218	L	0.40543	1.245	0.58432	D	0.999991	P;D	0.71674	0.846;0.998	P;D	0.74348	0.467;0.983	T	0.14924	-1.0455	10	0.62326	D	0.03	-21.5038	18.2518	0.90006	0.0:1.0:0.0:0.0	.	223;223	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	M	223	ENSP00000363891:V223M;ENSP00000288439:V223M	ENSP00000288439:V223M	V	-	1	0	SLC38A10	76865488	1.000000	0.71417	0.911000	0.35937	0.852000	0.48524	7.327000	0.79147	2.480000	0.83734	0.650000	0.86243	GTG		0.572	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		9	50	0	0	0	0.008291	0	9	50				
LRRC30	339291	broad.mit.edu	37	18	7231811	7231811	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:7231811G>T	ENST00000383467.2	+	1	689	c.675G>T	c.(673-675)ccG>ccT	p.P225P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	225								p.P225P(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTCCTTCCCGAGGTCGCTTT	0.577																																							uc010wzk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(673-675)CCG>CCT		leucine rich repeat containing 30							58.0	62.0	61.0					18																	7231811		2113	4242	6355	SO:0001819	synonymous_variant	339291							g.chr18:7231811G>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.675G>T	18.37:g.7231811G>T							p.P225P	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	675	+			225			LRR 7.			Silent	SNP	ENST00000383467.2	37	c.675G>T	CCDS42409.1																																																																																				0.577	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		16	53	1	0	1.62849e-17	0.004007	2.16933e-17	16	53				
LDLRAD4	753	broad.mit.edu	37	18	13387578	13387578	+	5'UTR	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:13387578G>T	ENST00000359446.5	+	0	325				LDLRAD4_ENST00000399848.3_5'UTR|LDLRAD4_ENST00000361205.4_5'UTR	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GAGCCGGGCAGGTGGGCCGCG	0.736																																							uc002ksa.2		NA																	0				ovary(2)|skin(1)	3						c.(-145--141)CAGGT>CATGT		hypothetical protein LOC753 isoform alpha 1																																				SO:0001623	5_prime_UTR_variant	753					integral to membrane|plasma membrane		g.chr18:13387578G>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.-144G>T	18.37:g.13387578G>T						C18orf1_uc002ksb.2_Translation_Start_Site		NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	3	525	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Translation_Start_Site	SNP	ENST00000359446.5	37	c.-143G>T	CCDS32793.1																																																																																				0.736	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		5	19	1	0	0.00116845	0.001168	0.00122497	5	19				
ROCK1	6093	broad.mit.edu	37	18	18550453	18550453	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:18550453C>A	ENST00000399799.2	-	23	3616	c.2676G>T	c.(2674-2676)ttG>ttT	p.L892F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	892	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L892F(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGCTAGATCCAACTGAGTAG	0.378																																							uc002kte.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(2674-2676)TTG>TTT		Rho-associated, coiled-coil containing protein							96.0	91.0	93.0					18																	18550453		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18550453C>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2676G>T	18.37:g.18550453C>A	ENSP00000382697:p.Leu892Phe						p.L892F	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			23	3617	-	Melanoma(1;0.165)		892			Glu-rich.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.2676G>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250688	0.80135	.	.	ENSG00000067900	ENST00000399799	T	0.14144	2.53	4.99	4.04	0.47022	.	0.000000	0.64402	D	0.000001	T	0.34600	0.0903	M	0.75615	2.305	0.54753	D	0.999986	D	0.89917	1.0	D	0.80764	0.994	T	0.05257	-1.0896	10	0.72032	D	0.01	.	11.4603	0.50206	0.0:0.8577:0.0:0.1423	.	892	Q13464	ROCK1_HUMAN	F	892	ENSP00000382697:L892F	ENSP00000382697:L892F	L	-	3	2	ROCK1	16804451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.649000	0.54417	2.586000	0.87340	0.563000	0.77884	TTG		0.378	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		9	20	1	0	0.000442599	0.006214	0.000469777	9	20				
MIB1	57534	broad.mit.edu	37	18	19359454	19359454	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:19359454G>A	ENST00000261537.6	+	6	980	c.716G>A	c.(715-717)gGc>gAc	p.G239D	MIB1_ENST00000578646.1_3'UTR|AC091038.1_ENST00000582102.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	239					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G239D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAGCAGAATGGCAACAGGAAT	0.408																																							uc002ktq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(715-717)GGC>GAC		mindbomb homolog 1							147.0	144.0	145.0					18																	19359454		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19359454G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.716G>A	18.37:g.19359454G>A	ENSP00000261537:p.Gly239Asp					MIB1_uc002ktp.2_5'UTR	p.G239D	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		6	716	+			239					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.716G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824838	0.50739	.	.	ENSG00000101752	ENST00000261537	T	0.36340	1.26	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.48399	-0.9039	10	0.25751	T	0.34	-10.5868	17.9231	0.88973	0.0:0.0:1.0:0.0	.	239	Q86YT6	MIB1_HUMAN	D	239	ENSP00000261537:G239D	ENSP00000261537:G239D	G	+	2	0	MIB1	17613452	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.813000	0.99286	2.315000	0.78130	0.305000	0.20034	GGC		0.408	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		7	42	0	0	0	0.001984	0	7	42				
ANKRD29	147463	broad.mit.edu	37	18	21214028	21214028	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:21214028T>C	ENST00000592179.1	-	5	570	c.416A>G	c.(415-417)cAt>cGt	p.H139R	ANKRD29_ENST00000322980.9_Missense_Mutation_p.H139R|ANKRD29_ENST00000284207.7_Missense_Mutation_p.H139R	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	139								p.H139R(2)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTTGGTCATGGATGTTTGC	0.493																																							uc002kun.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(415-417)CAT>CGT		ankyrin repeat domain 29							113.0	86.0	95.0					18																	21214028		2203	4300	6503	SO:0001583	missense	147463							g.chr18:21214028T>C	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.416A>G	18.37:g.21214028T>C	ENSP00000468354:p.His139Arg					ANKRD29_uc002kuo.2_Missense_Mutation_p.H139R	p.H139R	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN			5	573	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)		139			ANK 4.		B2R972|Q6ZWE8|Q96LU9	Missense_Mutation	SNP	ENST00000592179.1	37	c.416A>G	CCDS11879.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341356	0.81911	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	T;T	0.64618	0.68;-0.11	5.53	5.53	0.82687	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	N	0.16708	0.43	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.943;0.994	T	0.71507	-0.4572	10	0.66056	D	0.02	.	14.9376	0.70970	0.0:0.0:0.0:1.0	.	139;139	Q8N6D5-3;Q8N6D5	.;ANR29_HUMAN	R	139	ENSP00000323387:H139R;ENSP00000284207:H139R	ENSP00000284207:H139R	H	-	2	0	ANKRD29	19468026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.935000	0.75886	2.231000	0.72958	0.459000	0.35465	CAT		0.493	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		10	35	0	0	0	0.010729	0	10	35				
HRH4	59340	broad.mit.edu	37	18	22040786	22040786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:22040786G>T	ENST00000256906.4	+	1	194	c.94G>T	c.(94-96)Gga>Tga	p.G32*	HRH4_ENST00000426880.2_Nonsense_Mutation_p.G32*	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	32					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.G32*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TATAATGCTAGGAAATGCTTT	0.353																																							uc002kvi.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(94-96)GGA>TGA		histamine H4 receptor isoform 1	Clozapine(DB00363)						252.0	224.0	233.0					18																	22040786		2202	4299	6501	SO:0001587	stop_gained	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22040786G>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.94G>T	18.37:g.22040786G>T	ENSP00000256906:p.Gly32*					HRH4_uc010xbd.1_Nonsense_Mutation_p.G32*|HRH4_uc010dlx.2_Nonsense_Mutation_p.G32*	p.G32*	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			1	194	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		32			Helical; Name=1; (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Nonsense_Mutation	SNP	ENST00000256906.4	37	c.94G>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448521	0.96205	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.6027	17.6756	0.88229	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000256906:G32X	G	+	1	0	HRH4	20294784	1.000000	0.71417	0.999000	0.59377	0.214000	0.24535	6.798000	0.75155	2.759000	0.94783	0.650000	0.86243	GGA		0.353	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			27	49	1	0	4.7796e-09	0.004656	5.7785e-09	27	49				
ZNF521	25925	broad.mit.edu	37	18	22805686	22805686	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:22805686G>T	ENST00000361524.3	-	4	2344	c.2196C>A	c.(2194-2196)gaC>gaA	p.D732E	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.D732E|ZNF521_ENST00000584787.1_Missense_Mutation_p.D512E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	732					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGACTTTTGAGTCAAAAACTT	0.473			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(2194-2196)GAC>GAA		zinc finger protein 521							69.0	71.0	71.0					18																	22805686		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805686G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2196C>A	18.37:g.22805686G>T	ENSP00000354794:p.Asp732Glu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D732E|ZNF521_uc002kvl.2_Missense_Mutation_p.D512E	p.D732E	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2443	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		732			C2H2-type 17.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2196C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	7.083	0.570619	0.13560	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.27557	1.66;3.05;1.66	6.17	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	N	0.04090	-0.28	0.32585	N	0.527957	D	0.89917	1.0	D	0.79108	0.992	T	0.15723	-1.0427	10	0.07990	T	0.79	-39.6653	9.0584	0.36419	0.272:0.0:0.728:0.0	.	732	Q96K83	ZN521_HUMAN	E	732;766;732	ENSP00000354794:D732E;ENSP00000440768:D766E;ENSP00000382352:D732E	ENSP00000354794:D732E	D	-	3	2	ZNF521	21059684	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.768000	0.47645	0.941000	0.37499	0.655000	0.94253	GAC		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	84	1	0	2.56e-06	0.009096	2.89947e-06	4	84				
ZNF521	25925	broad.mit.edu	37	18	22807148	22807148	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:22807148G>T	ENST00000361524.3	-	4	882	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.T245N|ZNF521_ENST00000584787.1_Missense_Mutation_p.T25N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	245					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.T245N(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCACTTCTGAGTGTCCTTCAT	0.532			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|lung(1)	7						c.(733-735)ACT>AAT		zinc finger protein 521							136.0	111.0	120.0					18																	22807148		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807148G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.734C>A	18.37:g.22807148G>T	ENSP00000354794:p.Thr245Asn					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T245N|ZNF521_uc002kvl.2_Missense_Mutation_p.T25N	p.T245N	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	981	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		245					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.734C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266539	0.23136	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08896	3.04;3.07	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.05777	0.0151	N	0.08118	0	0.36797	D	0.885131	P	0.42827	0.791	B	0.39904	0.313	T	0.45906	-0.9229	10	0.44086	T	0.13	-18.7191	15.0866	0.72158	0.0:0.0:0.8583:0.1417	.	245	Q96K83	ZN521_HUMAN	N	245;279;245	ENSP00000354794:T245N;ENSP00000382352:T245N	ENSP00000354794:T245N	T	-	2	0	ZNF521	21061146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.818000	0.97014	0.655000	0.94253	ACT		0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		20	38	1	0	3.5997e-14	0.014323	4.67092e-14	20	38				
KCTD1	284252	broad.mit.edu	37	18	24035815	24035815	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:24035815C>T	ENST00000408011.3	-	5	1225	c.666G>A	c.(664-666)ggG>ggA	p.G222G	KCTD1_ENST00000579973.1_Silent_p.G222G|KCTD1_ENST00000580059.1_Silent_p.G222G|KCTD1_ENST00000417602.1_Silent_p.G830G|KCTD1_ENST00000317932.7_Silent_p.G222G	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	222					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G830G(1)|p.G222G(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTACTCCTCCCCCACAGGAGC	0.572																																							uc002kvw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(664-666)GGG>GGA		potassium channel tetramerisation domain							74.0	68.0	70.0					18																	24035815		2203	4300	6503	SO:0001819	synonymous_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24035815C>T	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.666G>A	18.37:g.24035815C>T						KCTD1_uc010xbj.1_Silent_p.G830G|KCTD1_uc010xbk.1_Silent_p.G222G|KCTD1_uc002kvy.2_3'UTR	p.G222G	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		5	1226	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		222					A8K1F5	Silent	SNP	ENST00000408011.3	37	c.666G>A	CCDS11888.1																																																																																				0.572	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		7	72	0	0	0	0.00308	0	7	72				
CDH2	1000	broad.mit.edu	37	18	25589787	25589787	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:25589787C>A	ENST00000269141.3	-	5	1019	c.596G>T	c.(595-597)gGg>gTg	p.G199V	CDH2_ENST00000399380.3_Missense_Mutation_p.G168V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	199	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.G199V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCTCCTGGCCCAGTTACACT	0.488																																							uc002kwg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(595-597)GGG>GTG		cadherin 2, type 1 preproprotein							102.0	94.0	96.0					18																	25589787		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25589787C>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.596G>T	18.37:g.25589787C>A	ENSP00000269141:p.Gly199Val					CDH2_uc010xbn.1_Missense_Mutation_p.G168V	p.G199V	NM_001792	NP_001783	P19022	CADH2_HUMAN			5	1055	-			199			Cadherin 1.|Extracellular (Potential).		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.596G>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980331	0.92982	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882	T;T;T;D	0.90444	-0.63;-0.63;-0.63;-2.67	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96883	0.9647	10	0.87932	D	0	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	168;199	A8MWK3;P19022	.;CADH2_HUMAN	V	199;168;148;114	ENSP00000269141:G199V;ENSP00000382312:G168V;ENSP00000411360:G148V;ENSP00000412120:G114V	ENSP00000269141:G199V	G	-	2	0	CDH2	23843785	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.438000	0.80431	2.890000	0.99128	0.585000	0.79938	GGG		0.488	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		13	48	1	0	1.5842e-08	0.001855	1.8979e-08	13	48				
DSG4	147409	broad.mit.edu	37	18	28993526	28993526	+	Silent	SNP	C	C	A	rs147705128	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:28993526C>A	ENST00000308128.4	+	16	3226	c.3091C>A	c.(3091-3093)Cga>Aga	p.R1031R	DSG4_ENST00000359747.4_Silent_p.R1050R|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1031					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1050R(2)|p.R1031R(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGTAACACGATACAGTAA	0.438																																							uc002kwq.2		NA																	4	Substitution - coding silent(4)		lung(4)	central_nervous_system(5)|ovary(3)	8						c.(3091-3093)CGA>AGA		desmoglein 4 isoform 2 preproprotein							68.0	70.0	69.0					18																	28993526		2203	4299	6502	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993526C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.3091C>A	18.37:g.28993526C>A						DSG4_uc002kwr.2_Silent_p.R1050R	p.R1031R	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	3226	+			1031			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.3091C>A	CCDS11897.1																																																																																				0.438	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		23	26	1	0	1.55469e-16	0.00333	2.06157e-16	23	26				
KLHL14	57565	broad.mit.edu	37	18	30260213	30260213	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:30260213C>G	ENST00000359358.4	-	7	1945	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	503						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D503H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGTTCATATCTTGTTTTCGA	0.378																																							uc002kxm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1507-1509)GAT>CAT		kelch-like 14							167.0	145.0	152.0					18																	30260213		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260213C>G	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1507G>C	18.37:g.30260213C>G	ENSP00000352314:p.Asp503His					KLHL14_uc010dmd.1_Missense_Mutation_p.D52H	p.D503H	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			7	1895	-			503			Kelch 4.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1507G>C	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251944	0.80135	.	.	ENSG00000197705	ENST00000359358	T	0.79141	-1.24	5.87	5.87	0.94306	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.89058	0.6607	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89145	0.3519	10	0.72032	D	0.01	.	20.2033	0.98269	0.0:1.0:0.0:0.0	.	503	Q9P2G3	KLH14_HUMAN	H	503	ENSP00000352314:D503H	ENSP00000352314:D503H	D	-	1	0	KLHL14	28514211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.779000	0.95612	0.655000	0.94253	GAT		0.378	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			11	57	0	0	0	0.010729	0	11	57				
ASXL3	80816	broad.mit.edu	37	18	31326136	31326136	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:31326136G>C	ENST00000269197.5	+	12	6324	c.6324G>C	c.(6322-6324)atG>atC	p.M2108I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2108					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						AGAATGAAATGAAAGAACAGT	0.383																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(6322-6324)ATG>ATC		additional sex combs like 3							84.0	84.0	84.0					18																	31326136		1848	4103	5951	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326136G>C	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.6324G>C	18.37:g.31326136G>C	ENSP00000269197:p.Met2108Ile					ASXL3_uc002kxq.2_Missense_Mutation_p.M1815I	p.M2108I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6379	+			2108					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6324G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.098958	0.37048	.	.	ENSG00000141431	ENST00000269197	T	0.12984	2.63	6.04	6.04	0.98038	.	.	.	.	.	T	0.09512	0.0234	N	0.08118	0	0.30484	N	0.772052	B	0.15719	0.014	B	0.14023	0.01	T	0.10451	-1.0629	9	0.44086	T	0.13	.	16.0072	0.80372	0.0:0.1336:0.8664:0.0	.	2108	Q9C0F0	ASXL3_HUMAN	I	2108	ENSP00000269197:M2108I	ENSP00000269197:M2108I	M	+	3	0	ASXL3	29580134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.021000	0.30040	2.873000	0.98535	0.563000	0.77884	ATG		0.383	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			3	86	0	0	0	0.004672	0	3	86				
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:32438301C>T	ENST00000399113.3	+	15	1504	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000283365.9_Nonsense_Mutation_p.Q445*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512																																							uc010dmn.1		NA																	6	Substitution - Missense(3)|Substitution - Nonsense(3)		lung(6)		0						c.(1504-1506)CAG>TAG		dystrobrevin alpha isoform 1							67.0	65.0	66.0					18																	32438301		2203	4300	6503	SO:0001587	stop_gained	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438301C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1504C>T	18.37:g.32438301C>T	ENSP00000382064:p.Gln502*					DTNA_uc010xbx.1_Nonsense_Mutation_p.Q252*|DTNA_uc002kxv.3_Nonsense_Mutation_p.Q445*|DTNA_uc002kxw.2_Nonsense_Mutation_p.Q445*|DTNA_uc010dmj.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxz.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxy.2_Nonsense_Mutation_p.Q442*|DTNA_uc010dml.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kyb.3_Nonsense_Mutation_p.Q499*|DTNA_uc010dmm.2_Nonsense_Mutation_p.Q502*|DTNA_uc010xby.1_Nonsense_Mutation_p.Q192*|DTNA_uc010dmo.2_Nonsense_Mutation_p.Q124*|DTNA_uc002kyd.3_Nonsense_Mutation_p.Q124*|DTNA_uc010xbz.1_Nonsense_Mutation_p.Q211*|DTNA_uc010xca.1_Nonsense_Mutation_p.Q154*|DTNA_uc002kye.2_Nonsense_Mutation_p.Q150*	p.Q502*	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			15	1505	+			502			Potential.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Nonsense_Mutation	SNP	ENST00000399113.3	37	c.1504C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	38	6.884341	0.97908	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.8894	19.4422	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	X	445;445;442;503;150;499;502;502;502;502;211;150;154	.	ENSP00000269190:Q503X	Q	+	1	0	DTNA	30692299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.612000	0.88384	0.650000	0.86243	CAG		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		11	51	0	0	0	0.013537	0	11	51				
ELP2	55250	broad.mit.edu	37	18	33734940	33734940	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:33734940G>T	ENST00000358232.6	+	12	1316	c.1253G>T	c.(1252-1254)tGg>tTg	p.W418L	ELP2_ENST00000350494.6_Missense_Mutation_p.W413L|ELP2_ENST00000542824.1_Missense_Mutation_p.W348L|ELP2_ENST00000423854.2_Missense_Mutation_p.W348L|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000442325.2_Missense_Mutation_p.W483L|ELP2_ENST00000351393.6_Missense_Mutation_p.W392L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	418					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.W418L(2)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTTGCTCCATGGAAGAGAAAA	0.398																																							uc002kzk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|skin(1)	4						c.(1252-1254)TGG>TTG		elongator protein 2							128.0	127.0	128.0					18																	33734940		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33734940G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1253G>T	18.37:g.33734940G>T	ENSP00000350967:p.Trp418Leu					ELP2_uc010xcg.1_Missense_Mutation_p.W483L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.W392L|ELP2_uc010xch.1_Missense_Mutation_p.W413L|ELP2_uc002kzn.1_Missense_Mutation_p.W348L|ELP2_uc002kzo.1_Missense_Mutation_p.W348L	p.W418L	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			12	1263	+			418			WD 8.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.1253G>T	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594973	0.86953	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;D;T;T	0.90620	-0.11;2.33;1.13;-2.7;0.05;-0.11	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	M	0.92970	3.365	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;0.929;1.0	D;D;D;D;P;D	0.85130	0.994;0.994;0.991;0.997;0.614;0.992	D	0.95084	0.8216	10	0.23891	T	0.37	-6.9196	17.2718	0.87104	0.0:0.0:1.0:0.0	.	413;483;348;348;392;418	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	L	418;392;483;348;413;348	ENSP00000350967:W418L;ENSP00000257191:W392L;ENSP00000414851:W483L;ENSP00000391202:W348L;ENSP00000316051:W413L;ENSP00000443800:W348L	ENSP00000316051:W413L	W	+	2	0	ELP2	31988938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.467000	0.97671	2.677000	0.91161	0.561000	0.74099	TGG		0.398	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		15	22	1	0	6.31663e-08	0.003163	7.4567e-08	15	22				
SYT4	6860	broad.mit.edu	37	18	40851705	40851705	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:40851705C>A	ENST00000255224.3	-	3	1310	c.942G>T	c.(940-942)ctG>ctT	p.L314L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L296L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	314	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.L314L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGATTTAGGCAGATGTCGAG	0.428																																					NSCLC(85;81 1419 2855 22820 35912)	NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(5)	5						c.(940-942)CTG>CTT		synaptotagmin IV							132.0	125.0	127.0					18																	40851705		2203	4300	6503	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40851705C>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.942G>T	18.37:g.40851705C>A						SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.L296L|SYT4_uc010dnh.2_Intron	p.L314L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			3	1311	-			314			C2 2.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.942G>T	CCDS11922.1																																																																																				0.428	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		6	23	1	0	8.12818e-05	0.001984	8.78788e-05	6	23				
SETBP1	26040	broad.mit.edu	37	18	42530068	42530068	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:42530068G>C	ENST00000282030.5	+	4	1059	c.763G>C	c.(763-765)Gag>Cag	p.E255Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	255						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E255Q(2)|p.E201Q(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCGCTCTTGAGCCCGTGGC	0.537									Schinzel-Giedion syndrome																														uc010dni.2		NA																	4	Substitution - Missense(4)		lung(4)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(763-765)GAG>CAG		SET binding protein 1 isoform a							85.0	82.0	83.0					18																	42530068		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530068G>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.763G>C	18.37:g.42530068G>C	ENSP00000282030:p.Glu255Gln						p.E255Q	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1059	+			255					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.763G>C	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113900	0.77210	.	.	ENSG00000152217	ENST00000282030	T	0.34472	1.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.32530	0.975	0.41156	D	0.986065	D	0.67145	0.996	P	0.59357	0.856	T	0.23476	-1.0187	10	0.36615	T	0.2	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	255	Q9Y6X0	SETBP_HUMAN	Q	255	ENSP00000282030:E255Q	ENSP00000282030:E255Q	E	+	1	0	SETBP1	40784066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.472000	0.80996	2.813000	0.96785	0.655000	0.94253	GAG		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		31	88	0	0	0	0.008361	0	31	88				
SLC14A2	8170	broad.mit.edu	37	18	43223121	43223121	+	Missense_Mutation	SNP	C	C	T	rs368998550		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:43223121C>T	ENST00000255226.6	+	9	1967	c.1151C>T	c.(1150-1152)gCa>gTa	p.A384V	RP11-116O18.1_ENST00000590535.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.A384V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	384					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.A384V(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACATGGAAGCAGCCATCTCC	0.542																																							uc010dnj.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1150-1152)GCA>GTA		solute carrier family 14 (urea transporter),							173.0	129.0	144.0					18																	43223121		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43223121C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1151C>T	18.37:g.43223121C>T	ENSP00000255226:p.Ala384Val					SLC14A2_uc002lbb.2_Missense_Mutation_p.A384V|SLC14A2_uc002lbe.2_Missense_Mutation_p.A384V	p.A384V	NM_007163	NP_009094	Q15849	UT2_HUMAN			10	1472	+			384			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.1151C>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932458	0.73442	.	.	ENSG00000132874	ENST00000255226	T	0.52295	0.67	5.73	2.91	0.33838	.	0.264974	0.38778	N	0.001562	T	0.41949	0.1181	L	0.55103	1.725	0.80722	D	1	B	0.28128	0.201	B	0.31245	0.126	T	0.16305	-1.0407	10	0.33141	T	0.24	-1.4536	9.9854	0.41839	0.0:0.6669:0.2615:0.0716	.	384	Q15849	UT2_HUMAN	V	384	ENSP00000255226:A384V	ENSP00000255226:A384V	A	+	2	0	SLC14A2	41477119	0.998000	0.40836	0.993000	0.49108	0.990000	0.78478	2.679000	0.46909	0.320000	0.23234	-0.176000	0.13171	GCA		0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			9	28	0	0	0	0.006214	0	9	28				
ATP5A1	498	broad.mit.edu	37	18	43669547	43669547	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:43669547C>G	ENST00000398752.6	-	5	756	c.635G>C	c.(634-636)gGt>gCt	p.G212A	ATP5A1_ENST00000282050.2_Missense_Mutation_p.G212A|ATP5A1_ENST00000593152.2_Missense_Mutation_p.G162A|ATP5A1_ENST00000590665.1_Missense_Mutation_p.G190A	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	212					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.G212A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CTGTCGGTCACCAATAATCAG	0.408																																							uc002lbr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GGT>GCT		ATP synthase, H+ transporting, mitochondrial F1							81.0	73.0	75.0					18																	43669547		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43669547C>G	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.635G>C	18.37:g.43669547C>G	ENSP00000381736:p.Gly212Ala					ATP5A1_uc010dnl.1_Missense_Mutation_p.G162A|ATP5A1_uc002lbs.1_Missense_Mutation_p.G162A|ATP5A1_uc002lbt.1_Missense_Mutation_p.G212A|ATP5A1_uc010xct.1_Missense_Mutation_p.G162A|ATP5A1_uc010dnm.1_RNA	p.G212A	NM_004046	NP_004037	P25705	ATPA_HUMAN			5	725	-			212			ATP (By similarity).		A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.635G>C	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569060	0.86439	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.84370	-1.84;-1.84	5.15	5.15	0.70609	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.096402	0.64402	D	0.000001	D	0.93983	0.8073	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.95215	0.8329	10	0.87932	D	0	-19.5102	18.6599	0.91469	0.0:1.0:0.0:0.0	.	212	P25705	ATPA_HUMAN	A	212;212;162	ENSP00000282050:G212A;ENSP00000381736:G212A	ENSP00000282050:G212A	G	-	2	0	ATP5A1	41923545	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.036000	0.70948	2.406000	0.81754	0.557000	0.71058	GGT		0.408	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		5	34	0	0	0	0.000602	0	5	34				
TCEB3B	51224	broad.mit.edu	37	18	44560240	44560240	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:44560240A>T	ENST00000332567.4	-	1	1748	c.1396T>A	c.(1396-1398)Tca>Aca	p.S466T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	466					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S466T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGGCCTCTGAGAGGTCCCAG	0.602																																							uc002lcr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1396-1398)TCA>ACA		elongin A2							59.0	67.0	64.0					18																	44560240		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560240A>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1396T>A	18.37:g.44560240A>T	ENSP00000331302:p.Ser466Thr					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.S466T	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1749	-			466					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1396T>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	A	8.162	0.789650	0.16258	.	.	ENSG00000206181	ENST00000332567	T	0.06849	3.25	1.74	-1.55	0.08558	.	0.595416	0.14876	N	0.293244	T	0.03263	0.0095	N	0.19112	0.55	0.09310	N	1	P	0.38020	0.615	B	0.26517	0.07	T	0.36163	-0.9759	10	0.66056	D	0.02	-0.709	1.9648	0.03393	0.3771:0.0:0.3604:0.2626	.	466	Q8IYF1	ELOA2_HUMAN	T	466	ENSP00000331302:S466T	ENSP00000331302:S466T	S	-	1	0	TCEB3B	42814238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.160000	0.10041	-0.478000	0.06823	-0.439000	0.05793	TCA		0.602	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		21	115	0	0	0	0.010504	0	21	115				
ST8SIA3	51046	broad.mit.edu	37	18	55024197	55024197	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:55024197A>G	ENST00000324000.3	+	3	2390	c.356A>G	c.(355-357)aAt>aGt	p.N119S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	119					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.N119S(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGACCAAGAATAGTGTTCGG	0.333																																							uc002lgn.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(355-357)AAT>AGT		ST8 alpha-N-acetyl-neuraminide							72.0	76.0	75.0					18																	55024197		2202	4300	6502	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024197A>G	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.356A>G	18.37:g.55024197A>G	ENSP00000320431:p.Asn119Ser						p.N119S	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	713	+			119			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.356A>G	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	A	0.941	-0.709633	0.03230	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.29142	1.58	5.74	2.02	0.26589	.	0.170024	0.64402	N	0.000007	T	0.13114	0.0318	N	0.11651	0.15	0.40610	D	0.981661	B	0.18610	0.029	B	0.18561	0.022	T	0.17379	-1.0371	10	0.07482	T	0.82	-7.5255	9.1771	0.37118	0.7899:0.0:0.2101:0.0	.	119	O43173	SIA8C_HUMAN	S	226;119	ENSP00000320431:N119S	ENSP00000320431:N119S	N	+	2	0	ST8SIA3	53175195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.784000	0.47774	0.112000	0.17975	0.533000	0.62120	AAT		0.333	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		10	31	0	0	0	0.006214	0	10	31				
VPS4B	9525	broad.mit.edu	37	18	61060776	61060776	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61060776C>T	ENST00000238497.5	-	10	1302	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	367					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.G367R(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CGGGAAGGTCCGCGAACCTGA	0.388																																							uc002lix.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1099-1101)GGA>AGA		vacuolar protein sorting factor 4B							87.0	85.0	86.0					18																	61060776		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61060776C>T	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1099G>A	18.37:g.61060776C>T	ENSP00000238497:p.Gly367Arg						p.G367R	NM_004869	NP_004860	O75351	VPS4B_HUMAN			10	1359	-			367					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.1099G>A	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729539	0.89390	.	.	ENSG00000119541	ENST00000238497	D	0.93366	-3.21	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.96740	0.9546	10	0.32370	T	0.25	-24.5132	17.0059	0.86393	0.0:0.8724:0.1276:0.0	.	367	O75351	VPS4B_HUMAN	R	367	ENSP00000238497:G367R	ENSP00000238497:G367R	G	-	1	0	VPS4B	59211756	1.000000	0.71417	0.880000	0.34516	0.944000	0.59088	7.734000	0.84928	1.474000	0.48178	0.543000	0.68304	GGA		0.388	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		6	40	0	0	0	0.00308	0	6	40				
SERPINB13	5275	broad.mit.edu	37	18	61264475	61264475	+	Missense_Mutation	SNP	G	G	A	rs369861529		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61264475G>A	ENST00000344731.5	+	8	1156	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.G300S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	352					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G352S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CACCGGCATAGGCTTTACTGT	0.522																																							uc002ljc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1054-1056)GGC>AGC		serine (or cysteine) proteinase inhibitor, clade		G	SER/GLY	0,4406		0,0,2203	73.0	62.0	65.0		1054	2.5	0.0	18		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB13	NM_012397.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	352/392	61264475	1,13005	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61264475G>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.1054G>A	18.37:g.61264475G>A	ENSP00000341584:p.Gly352Ser					SERPINB13_uc002ljd.2_Missense_Mutation_p.G216S|SERPINB13_uc010xep.1_Missense_Mutation_p.G361S|SERPINB13_uc010xeq.1_Missense_Mutation_p.G173S|SERPINB13_uc010xer.1_Missense_Mutation_p.G173S	p.G352S	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			8	1222	+			352					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.1054G>A	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	4.850	0.158052	0.09236	0.0	1.16E-4	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.83755	-1.76;-1.76	5.3	2.52	0.30459	Serpin domain (3);	0.706882	0.12803	N	0.437830	T	0.80460	0.4627	L	0.31752	0.955	0.09310	N	1	B;B;D	0.69078	0.205;0.007;0.997	B;B;D	0.64506	0.098;0.006;0.926	T	0.66296	-0.5959	10	0.09590	T	0.72	.	5.9218	0.19086	0.2462:0.1404:0.6133:0.0	.	361;270;352	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	S	300;270;352	ENSP00000269489:G300S;ENSP00000341584:G352S	ENSP00000269489:G300S	G	+	1	0	SERPINB13	59415455	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.311000	0.08124	0.235000	0.21160	-0.262000	0.10625	GGC		0.522	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		10	47	0	0	0	0.006214	0	10	47				
SERPINB4	6318	broad.mit.edu	37	18	61305166	61305166	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:61305166G>A	ENST00000341074.5	-	8	1075	c.960C>T	c.(958-960)agC>agT	p.S320S	SERPINB4_ENST00000356424.6_Silent_p.S268S	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	320					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S320S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGAGACCGTGGCTCCAGGTCA	0.507																																							uc002ljf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)	3						c.(958-960)AGC>AGT		serine (or cysteine) proteinase inhibitor, clade							151.0	135.0	140.0					18																	61305166		2203	4300	6503	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61305166G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.960C>T	18.37:g.61305166G>A						SERPINB4_uc002lje.2_Silent_p.S299S|SERPINB4_uc002ljg.2_Silent_p.S320S	p.S320S	NM_002974	NP_002965	P48594	SPB4_HUMAN			8	1046	-			320					A8K847	Silent	SNP	ENST00000341074.5	37	c.960C>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	3.170	-0.170150	0.06461	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.51	-7.68	0.01268	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20840	-1.0263	4	.	.	.	.	0.704	0.00913	0.294:0.1747:0.1259:0.4054	.	.	.	.	V	301	.	.	A	-	2	0	SERPINB4	59456146	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.064000	0.00155	-1.850000	0.01169	-1.181000	0.01715	GCC		0.507	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		10	28	0	0	0	0.008291	0	10	28				
DSEL	92126	broad.mit.edu	37	18	65180123	65180123	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:65180123G>A	ENST00000310045.7	-	2	3226	c.1753C>T	c.(1753-1755)Ctc>Ttc	p.L585F	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	575					carbohydrate metabolic process (GO:0005975)|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 membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.L585F(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAATTTAAGAGAAGCAAAGCA	0.403																																							uc002lke.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(1753-1755)CTC>TTC		dermatan sulfate epimerase-like							78.0	74.0	76.0					18																	65180123		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180123G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1753C>T	18.37:g.65180123G>A	ENSP00000310565:p.Leu585Phe						p.L585F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	2977	-		Esophageal squamous(42;0.129)	575					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1753C>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884597	0.72410	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.27402	1.67	5.78	5.78	0.91487	.	0.000000	0.64402	U	0.000001	T	0.57725	0.2073	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54370	-0.8304	10	0.48119	T	0.1	-13.5791	19.5927	0.95522	0.0:0.0:1.0:0.0	.	575	Q8IZU8	DSEL_HUMAN	F	585;575	ENSP00000310565:L585F	ENSP00000310565:L585F	L	-	1	0	DSEL	63331103	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.628000	0.98415	2.737000	0.93849	0.563000	0.77884	CTC		0.403	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		4	41	0	0	0	0.000602	0	4	41				
ZNF407	55628	broad.mit.edu	37	18	72346391	72346391	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:72346391C>G	ENST00000299687.5	+	1	3416	c.3416C>G	c.(3415-3417)tCt>tGt	p.S1139C	ZNF407_ENST00000309902.6_Missense_Mutation_p.S1139C|ZNF407_ENST00000582337.1_Missense_Mutation_p.S1139C|ZNF407_ENST00000577538.1_Missense_Mutation_p.S1139C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1139					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.S1139C(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAGATATGTCTAAAGTGCTC	0.358																																							uc002llw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3415-3417)TCT>TGT		zinc finger protein 407 isoform 1							41.0	42.0	42.0					18																	72346391		1870	4109	5979	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346391C>G	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3416C>G	18.37:g.72346391C>G	ENSP00000299687:p.Ser1139Cys					ZNF407_uc010xfc.1_Missense_Mutation_p.S1139C|ZNF407_uc010dqu.1_Missense_Mutation_p.S1139C|ZNF407_uc002llu.2_Missense_Mutation_p.S1138C	p.S1139C	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	3473	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1139					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.3416C>G	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818247	0.50633	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.16597	2.33;2.67	5.95	5.95	0.96441	.	0.481828	0.21353	N	0.075935	T	0.32224	0.0822	L	0.34521	1.04	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.65874	0.939;0.939;0.87	T	0.33675	-0.9859	10	0.66056	D	0.02	.	15.9398	0.79745	0.1355:0.8645:0.0:0.0	.	1139;1139;1139	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	C	1139	ENSP00000299687:S1139C;ENSP00000310359:S1139C	ENSP00000299687:S1139C	S	+	2	0	ZNF407	70475379	0.019000	0.18553	0.169000	0.22859	0.972000	0.66771	1.961000	0.40432	-0.411000	0.07530	-0.333000	0.08304	TCT		0.358	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		6	28	0	0	0	0.001168	0	6	28				
ZNF516	9658	broad.mit.edu	37	18	74091694	74091694	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:74091694G>A	ENST00000443185.2	-	4	2693	c.2376C>T	c.(2374-2376)ccC>ccT	p.P792P	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	792					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(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GAATCCACGGGGGAGCCACGG	0.597																																							uc010dqx.1		NA																	0				ovary(1)	1						c.(2374-2376)CCC>CCT		zinc finger protein 516							31.0	37.0	35.0					18																	74091694		2047	4192	6239	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091694G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2376C>T	18.37:g.74091694G>A						ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.P792P	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2611	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	792						Silent	SNP	ENST00000443185.2	37	c.2376C>T																																																																																					0.597	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		7	28	0	0	0	0.001984	0	7	28				
SALL3	27164	broad.mit.edu	37	18	76754521	76754521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:76754521G>T	ENST00000537592.2	+	2	2530	c.2530G>T	c.(2530-2532)Gag>Tag	p.E844*	SALL3_ENST00000575389.2_Nonsense_Mutation_p.E844*|SALL3_ENST00000536229.3_Nonsense_Mutation_p.E711*	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	844					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCCGCCCTGGAGAACCAGAT	0.667																																							uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2530-2532)GAG>TAG		sal-like 3							40.0	42.0	41.0					18																	76754521		2202	4299	6501	SO:0001587	stop_gained	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754521G>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2530G>T	18.37:g.76754521G>T	ENSP00000441823:p.Glu844*					SALL3_uc010dra.2_Nonsense_Mutation_p.E451*	p.E844*	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2530	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	844					Q9UGH1	Nonsense_Mutation	SNP	ENST00000537592.2	37	c.2530G>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	47	13.297099	0.99733	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	.	.	.	5.3	5.3	0.74995	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-50.682	18.9687	0.92707	0.0:0.0:1.0:0.0	.	.	.	.	X	844;844;576	.	ENSP00000299466:E844X	E	+	1	0	SALL3	74855509	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.787000	0.99055	2.477000	0.83638	0.561000	0.74099	GAG		0.667	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		12	40	1	0	3.07112e-06	0.010729	3.46216e-06	12	40				
CTDP1	9150	broad.mit.edu	37	18	77473099	77473099	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:77473099G>T	ENST00000299543.7	+	7	1138	c.991G>T	c.(991-993)Gcg>Tcg	p.A331S	CTDP1_ENST00000075430.7_Missense_Mutation_p.A331S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	331	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGATATGAATGCGCCCCCTGG	0.443																																							uc002lnh.1		NA																	0					0						c.(991-993)GCG>TCG		CTD (carboxy-terminal domain, RNA polymerase II,							70.0	68.0	68.0					18																	77473099		2203	4299	6502	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77473099G>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.991G>T	18.37:g.77473099G>T	ENSP00000299543:p.Ala331Ser					CTDP1_uc002lni.1_Missense_Mutation_p.A331S|CTDP1_uc010drd.1_Missense_Mutation_p.A331S	p.A331S	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	7	1138	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	331			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.991G>T	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927417	0.92389	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.10763	2.86;2.84	4.82	4.82	0.62117	NLI interacting factor (1);	0.000000	0.85682	D	0.000000	T	0.20618	0.0496	N	0.25789	0.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.10177	-1.0641	10	0.16896	T	0.51	-22.6997	18.26	0.90031	0.0:0.0:1.0:0.0	.	212;331;331	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	S	331	ENSP00000299543:A331S;ENSP00000075430:A331S	ENSP00000075430:A331S	A	+	1	0	CTDP1	75574087	1.000000	0.71417	0.094000	0.20943	0.194000	0.23727	8.561000	0.90715	2.364000	0.80123	0.655000	0.94253	GCG		0.443	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		6	18	1	0	0.00116845	0.001168	0.00122497	6	18				
ADNP2	22850	broad.mit.edu	37	18	77894747	77894747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:77894747C>G	ENST00000262198.4	+	4	1906	c.1451C>G	c.(1450-1452)tCa>tGa	p.S484*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	484					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S484*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGGTCCAGTCAGGAGTTCTC	0.607																																							uc002lnw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1450-1452)TCA>TGA		ADNP homeobox 2							59.0	62.0	61.0					18																	77894747		2203	4300	6503	SO:0001587	stop_gained	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77894747C>G	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1451C>G	18.37:g.77894747C>G	ENSP00000262198:p.Ser484*						p.S484*	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	1906	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	484					A8K951|O94943|Q9H9P3	Nonsense_Mutation	SNP	ENST00000262198.4	37	c.1451C>G	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	40	8.101453	0.98654	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.23	5.23	0.72850	.	0.175329	0.27739	N	0.018045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.6037	16.7631	0.85517	0.0:1.0:0.0:0.0	.	.	.	.	X	484	.	.	S	+	2	0	ADNP2	75995738	0.005000	0.15991	0.068000	0.19968	0.778000	0.44026	1.787000	0.38704	2.718000	0.92993	0.650000	0.86243	TCA		0.607	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		15	85	0	0	0	0.003163	0	15	85				
PCSK4	54760	broad.mit.edu	37	19	1483437	1483437	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:1483437T>C	ENST00000300954.5	-	12	1478	c.1417A>G	c.(1417-1419)Agg>Ggg	p.R473G	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4									p.R473G(2)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		ACGTTTTCCCTGATGTAGATC	0.701																																							uc002ltb.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1417-1419)AGG>GGG		proprotein convertase subtilisin/kexin type 4							32.0	36.0	35.0					19																	1483437		2183	4265	6448	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1483437T>C	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1417A>G	19.37:g.1483437T>C	ENSP00000300954:p.Arg473Gly					PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Missense_Mutation_p.R285G	p.R473G	NM_017573	NP_060043	Q6UW60	PCSK4_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)	12	1479	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	473						Missense_Mutation	SNP	ENST00000300954.5	37	c.1417A>G	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	-	4.134	0.023253	0.08006	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	T	0.63096	-0.02	3.1	-0.892	0.10570	Galactose-binding domain-like (1);	0.866896	0.09660	U	0.772560	T	0.50650	0.1628	L	0.58101	1.795	0.09310	N	1	B;B	0.20368	0.015;0.044	B;B	0.14023	0.005;0.01	T	0.46484	-0.9188	10	0.59425	D	0.04	.	1.5423	0.02557	0.1631:0.1087:0.358:0.3702	.	473;285	Q6UW60;B3KQ28	PCSK4_HUMAN;.	G	473;285	ENSP00000300954:R473G	ENSP00000300954:R473G	R	-	1	2	PCSK4	1434437	0.059000	0.20769	0.001000	0.08648	0.058000	0.15608	0.140000	0.16056	-0.542000	0.06249	0.235000	0.17854	AGG		0.701	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		29	23	0	0	0	0.004878	0	29	23				
ZNF554	115196	broad.mit.edu	37	19	2832300	2832300	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:2832300G>A	ENST00000317243.5	+	4	451		c.e4-1		ZNF554_ENST00000591265.1_Splice_Site	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		GTCTTTTTCAGAAGCCTTGAA	0.423																																							uc002lwm.2		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e4-1		zinc finger protein 554							108.0	105.0	106.0					19																	2832300		1828	4090	5918	SO:0001630	splice_region_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2832300G>A	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.254-1G>A	19.37:g.2832300G>A						ZNF554_uc002lwl.2_Splice_Site_p.E34_splice	p.E85_splice	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	452	+		Hepatocellular(1079;0.137)						Q8NAT3|Q9BWN3	Splice_Site	SNP	ENST00000317243.5	37	c.254_splice	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	5.375	0.254424	0.10185	.	.	ENSG00000172006	ENST00000317243	.	.	.	1.81	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.30884	N	0.73106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1162	0.25418	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF554	2783300	0.087000	0.21565	0.110000	0.21437	0.036000	0.12997	1.000000	0.29770	1.340000	0.45581	0.423000	0.28283	.		0.423	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303	Intron	40	33	0	0	0	0.00623	0	40	33				
MUC16	94025	broad.mit.edu	37	19	8982214	8982214	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:8982214G>T	ENST00000397910.4	-	70	42264	c.42061C>A	c.(42061-42063)Cat>Aat	p.H14021N	MUC16_ENST00000380951.5_Missense_Mutation_p.H662N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14046	SEA 13. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.H14021N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCCATGGGTCTGCTGG	0.632																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(42061-42063)CAT>AAT		mucin 16							51.0	54.0	53.0					19																	8982214		2019	4173	6192	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8982214G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42061C>A	19.37:g.8982214G>T	ENSP00000381008:p.His14021Asn					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.H838N|MUC16_uc010xki.1_RNA	p.H14021N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			70	42265	-			14046	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 13.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42061C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.886702	0.00527	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.35605	1.3;1.3	3.89	0.573	0.17363	SEA (1);	1.155590	0.06797	N	0.787943	T	0.43656	0.1257	L	0.38838	1.175	.	.	.	B;P	0.43431	0.224;0.807	B;P	0.62184	0.078;0.899	T	0.45440	-0.9261	9	0.33940	T	0.23	.	4.1404	0.10191	0.216:0.1927:0.5913:0.0	.	21666;14021	Q8WXI7;B5ME49	MUC16_HUMAN;.	N	14021;662	ENSP00000381008:H14021N;ENSP00000370338:H662N	ENSP00000370338:H662N	H	-	1	0	MUC16	8843214	0.524000	0.26282	0.218000	0.23776	0.007000	0.05969	0.950000	0.29122	0.236000	0.21180	-0.225000	0.12378	CAT		0.632	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	27	1	0	1.05317e-09	0.00245	1.28397e-09	14	27				
MUC16	94025	broad.mit.edu	37	19	9072073	9072073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:9072073C>A	ENST00000397910.4	-	3	15576	c.15373G>T	c.(15373-15375)Gag>Tag	p.E5125*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5127	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E5125*(4)|p.E5125Q(2)|p.E758*(2)|p.E758Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATTGGTCTCTTCTGTGTTT	0.438																																							uc002mkp.2		NA																	9	Substitution - Nonsense(6)|Substitution - Missense(3)		lung(9)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15373-15375)GAG>TAG		mucin 16							145.0	138.0	140.0					19																	9072073		1981	4167	6148	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072073C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15373G>T	19.37:g.9072073C>A	ENSP00000381008:p.Glu5125*						p.E5125*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15577	-			5127			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.15373G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	56	25.135169	0.99963	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.71	0.639	0.17747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.1741	0.10343	0.0:0.7805:0.0:0.2195	.	.	.	.	X	5125	.	ENSP00000381008:E5125X	E	-	1	0	MUC16	8933073	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.291000	0.08343	0.302000	0.22762	0.109000	0.15622	GAG		0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		44	53	1	0	1.59932e-28	0.007835	2.22435e-28	44	53				
ANGPTL6	83854	broad.mit.edu	37	19	10205580	10205580	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:10205580G>T	ENST00000253109.4	-	3	855	c.617C>A	c.(616-618)cCg>cAg	p.P206Q	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.P206Q|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.P206Q	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	206					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)		p.P206Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AAGACGGACCGGAACCACAGG	0.632																																							uc002mmx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)CCG>CAG		angiopoietin-like 6 precursor							44.0	37.0	39.0					19																	10205580		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10205580G>T	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.617C>A	19.37:g.10205580G>T	ENSP00000253109:p.Pro206Gln					ANGPTL6_uc002mmy.1_Missense_Mutation_p.P206Q	p.P206Q	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		3	735	-			206					A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.617C>A	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011207	0.35511	.	.	ENSG00000130812	ENST00000253109	T	0.55760	0.5	4.23	3.2	0.36748	.	1.041800	0.07601	N	0.923701	T	0.52289	0.1725	N	0.19112	0.55	0.25196	N	0.990092	D	0.76494	0.999	D	0.64042	0.921	T	0.42932	-0.9422	10	0.14252	T	0.57	.	9.5965	0.39578	0.106:0.0:0.894:0.0	.	206	Q8NI99	ANGL6_HUMAN	Q	206	ENSP00000253109:P206Q	ENSP00000253109:P206Q	P	-	2	0	ANGPTL6	10066580	0.945000	0.32115	0.466000	0.27168	0.129000	0.20672	2.737000	0.47393	2.348000	0.79779	0.484000	0.47621	CCG		0.632	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		21	18	1	0	1.00905e-13	0.008871	1.30003e-13	21	18				
KEAP1	9817	broad.mit.edu	37	19	10602328	10602328	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:10602328C>T	ENST00000171111.5	-	3	1797	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.G417E	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.G417E(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GACCCCCACCCCGATGCGGTT	0.667																																							uc002moq.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1249-1251)GGG>GAG		kelch-like ECH-associated protein 1							31.0	27.0	28.0					19																	10602328		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602328C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1250G>A	19.37:g.10602328C>T	ENSP00000171111:p.Gly417Glu					KEAP1_uc002mop.1_Missense_Mutation_p.G135E|KEAP1_uc002mor.1_Missense_Mutation_p.G417E	p.G417E	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1406	-			417			Kelch 2.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1250G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781122	0.90282	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.82526	-1.62;-1.62	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94163	0.7416	10	0.87932	D	0	.	17.1192	0.86697	0.0:1.0:0.0:0.0	.	417	Q14145	KEAP1_HUMAN	E	417	ENSP00000171111:G417E;ENSP00000377245:G417E	ENSP00000171111:G417E	G	-	2	0	KEAP1	10463328	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	5.921000	0.70028	2.662000	0.90505	0.655000	0.94253	GGG		0.667	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		13	12	0	0	0	0.001855	0	13	12				
ACP5	54	broad.mit.edu	37	19	11687567	11687568	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11687567_11687568GA>AT	ENST00000592828.1	-	5	754_755	c.352_353TC>AT	c.(352-354)TCt>ATt	p.S118I	ACP5_ENST00000433365.2_Missense_Mutation_p.S118I|ACP5_ENST00000218758.5_Missense_Mutation_p.S118I|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.S118I	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATCTGGGCAGAGACATTGCCA	0.569																																							uc002msg.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(352-354)TCT>ATT		acid phosphatase 5, tartrate resistant																																				SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687567_11687568GA>AT	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.352_353delinsAT	19.37:g.11687567_11687568delinsAT	ENSP00000468767:p.Ser118Ile					ACP5_uc002msh.3_Missense_Mutation_p.S118I|ACP5_uc002msi.3_Missense_Mutation_p.S118I|ACP5_uc002msj.3_Missense_Mutation_p.S118I|ACP5_uc010dye.1_3'UTR	p.S118I	NM_001611	NP_001602	P13686	PPA5_HUMAN			3	498_499	-			118					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	DNP	ENST00000592828.1	37	c.352_353TC>AT	CCDS12265.1																																																																																				0.569	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			20	97	0	0	0	0.004672	0	20	97				
ZNF491	126069	broad.mit.edu	37	19	11917571	11917571	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11917571A>T	ENST00000323169.5	+	3	1134	c.803A>T	c.(802-804)gAg>gTg	p.E268V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E268V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CACACTGGAGAGAGGCCTCAT	0.413																																							uc002mso.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(802-804)GAG>GTG		zinc finger protein 491							62.0	61.0	61.0					19																	11917571		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917571A>T	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.803A>T	19.37:g.11917571A>T	ENSP00000313443:p.Glu268Val						p.E268V	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	1088	+			268					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.803A>T	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	14.08	2.428364	0.43122	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.26810	1.71	0.874	-0.22	0.13130	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23451	0.0567	M	0.61703	1.905	0.26938	N	0.9663	B	0.02656	0.0	B	0.11329	0.006	T	0.31475	-0.9942	9	0.87932	D	0	.	4.9173	0.13853	0.5261:0.0:0.0:0.4739	.	268	Q8N8L2	ZN491_HUMAN	V	268;240	ENSP00000313443:E268V	ENSP00000313443:E268V	E	+	2	0	ZNF491	11778571	0.149000	0.22717	0.581000	0.28614	0.279000	0.26890	2.520000	0.45554	-0.136000	0.11475	-0.479000	0.04858	GAG		0.413	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		26	25	0	0	0	0.00632	0	26	25				
ZNF799	90576	broad.mit.edu	37	19	12502558	12502558	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:12502558C>A	ENST00000430385.3	-	4	854	c.654G>T	c.(652-654)acG>acT	p.T218T	ZNF799_ENST00000419318.1_Silent_p.T186T|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T218T(2)|p.T5T(2)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTCCAGTGTGCGTTCTCTCAT	0.403																																							uc010dyt.2		NA																	4	Substitution - coding silent(4)		lung(4)	breast(3)|ovary(2)|skin(1)	6						c.(652-654)ACG>ACT		zinc finger protein 799							105.0	109.0	108.0					19																	12502558		2202	4298	6500	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502558C>A	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.654G>T	19.37:g.12502558C>A						ZNF799_uc002mts.3_Intron	p.T218T	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN			4	804	-			218			C2H2-type 3.			Silent	SNP	ENST00000430385.3	37	c.654G>T	CCDS45989.1																																																																																				0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		28	35	1	0	8.24728e-16	0.004656	1.0847e-15	28	35				
RFX1	5989	broad.mit.edu	37	19	14077445	14077445	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:14077445C>T	ENST00000254325.4	-	13	2085	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	617					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.E617E(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCCACCCTACCTCACAGTGTT	0.677																																							uc002mxv.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)|pancreas(1)	2						c.(1849-1851)GAG>GAA		regulatory factor X1							76.0	66.0	69.0					19																	14077445		2203	4300	6503	SO:0001630	splice_region_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14077445C>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1851+1G>A	19.37:g.14077445C>T							p.E617E	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		13	2123	-			617						Silent	SNP	ENST00000254325.4	37	c.1851G>A	CCDS12301.1																																																																																				0.677	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918	Silent	27	42	0	0	0	0.00632	0	27	42				
CLEC17A	388512	broad.mit.edu	37	19	14710889	14710889	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:14710889C>G	ENST00000417570.1	+	12	827	c.789C>G	c.(787-789)ggC>ggG	p.G263G	CLEC17A_ENST00000397439.2_Silent_p.G246G|CLEC17A_ENST00000547437.1_Silent_p.G263G	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	263	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.G263G(2)									CCTTTGAGGGCAAGTGTTACT	0.532																																							uc010dzn.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(787-789)GGC>GGG		SubName: Full=CLEC17A protein;							68.0	65.0	66.0					19																	14710889		1970	4160	6130	SO:0001819	synonymous_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14710889C>G	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.789C>G	19.37:g.14710889C>G						CLEC17A_uc002mzh.1_Silent_p.G246G|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Intron|CLEC17A_uc010dzo.1_Silent_p.G263G	p.G263G			Q6ZS10	CL17A_HUMAN			12	866	+			263			C-type lectin.|Extracellular (Potential).		A8MX68|B2RTX0|B7ZMM4	Silent	SNP	ENST00000417570.1	37	c.789C>G	CCDS56087.1																																																																																				0.532	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		14	35	0	0	0	0.004007	0	14	35				
BRD4	23476	broad.mit.edu	37	19	15366997	15366997	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:15366997C>G	ENST00000263377.2	-	9	1850	c.1629G>C	c.(1627-1629)aaG>aaC	p.K543N	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.K543N|BRD4_ENST00000360016.5_Missense_Mutation_p.K543N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	543	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.K543N(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tcttttccttcttgtctttct	0.433			T	C15orf55	lethal midline carcinoma of young people																																		uc002nar.2		NA		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1627-1629)AAG>AAC		bromodomain-containing protein 4 isoform long							188.0	172.0	177.0					19																	15366997		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15366997C>G	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1629G>C	19.37:g.15366997C>G	ENSP00000263377:p.Lys543Asn					BRD4_uc002nas.2_Missense_Mutation_p.K543N|BRD4_uc002nat.3_Missense_Mutation_p.K543N|BRD4_uc002nau.3_Missense_Mutation_p.K543N	p.K543N	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		9	1851	-			543			Lys-rich.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1629G>C	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740694	0.69304	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.16457	2.34;4.28;4.28	5.55	3.37	0.38596	.	0.261386	0.33457	N	0.004886	T	0.33556	0.0867	M	0.67700	2.07	0.40667	D	0.982181	D;D;D	0.69078	0.997;0.995;0.997	P;P;D	0.63488	0.879;0.882;0.915	T	0.06144	-1.0843	10	0.72032	D	0.01	-19.8878	8.8137	0.34983	0.0:0.8415:0.0:0.1585	.	543;543;543	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	N	543	ENSP00000263377:K543N;ENSP00000360901:K543N;ENSP00000353112:K543N	ENSP00000263377:K543N	K	-	3	2	BRD4	15227997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.535000	0.45685	0.630000	0.30394	0.561000	0.74099	AAG		0.433	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		17	52	0	0	0	0.004007	0	17	52				
CYP4F3	4051	broad.mit.edu	37	19	15756552	15756552	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:15756552C>G	ENST00000221307.8	+	3	269	c.222C>G	c.(220-222)ctC>ctG	p.L74L	CYP4F3_ENST00000586182.2_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000585846.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	74					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.L74L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGGAAGGTCTCCTATACACAC	0.557																																							uc002nbj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(220-222)CTC>CTG		cytochrome P450, family 4, subfamily F,							130.0	123.0	126.0					19																	15756552		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15756552C>G	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.222C>G	19.37:g.15756552C>G						CYP4F3_uc010xok.1_Intron|CYP4F3_uc010xol.1_Intron|CYP4F3_uc010xom.1_Intron|CYP4F3_uc002nbk.2_Intron	p.L74L	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			3	272	+			74					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.222C>G	CCDS12332.1																																																																																				0.557	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		13	88	0	0	0	0.00245	0	13	88				
FCHO1	23149	broad.mit.edu	37	19	17893966	17893966	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:17893966C>A	ENST00000596536.1	+	24	2361	c.2078C>A	c.(2077-2079)gCc>gAc	p.A693D	FCHO1_ENST00000595033.1_Missense_Mutation_p.A643D|FCHO1_ENST00000597512.1_Missense_Mutation_p.A700D|FCHO1_ENST00000539407.1_Missense_Mutation_p.A693D|FCHO1_ENST00000594202.1_Missense_Mutation_p.A693D|FCHO1_ENST00000600676.1_Missense_Mutation_p.A693D|FCHO1_ENST00000252771.7_Missense_Mutation_p.A693D|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693D|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693D	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	693	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)	p.A693D(2)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCCCAACGCCGATCTGCTG	0.617																																							uc010ebb.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(2077-2079)GCC>GAC		FCH domain only 1 isoform b							98.0	73.0	81.0					19																	17893966		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17893966C>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2078C>A	19.37:g.17893966C>A	ENSP00000470731:p.Ala693Asp					FCHO1_uc002nhg.3_Missense_Mutation_p.A693D|FCHO1_uc002nhh.2_Missense_Mutation_p.A693D|FCHO1_uc010xpw.1_Missense_Mutation_p.A643D|FCHO1_uc002nhi.2_Missense_Mutation_p.A149D|FCHO1_uc002nhj.2_Missense_Mutation_p.A37D	p.A693D	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			23	2267	+			693					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2078C>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003773	0.19199	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.42513	0.97;0.97;0.97	3.84	3.84	0.44239	Muniscin C-terminal mu homology domain (1);	0.527792	0.18809	N	0.130573	T	0.34571	0.0902	L	0.39898	1.24	0.22656	N	0.998881	B;B	0.31459	0.324;0.277	B;B	0.33196	0.159;0.155	T	0.16247	-1.0409	10	0.21540	T	0.41	-3.4352	13.6224	0.62144	0.0:1.0:0.0:0.0	.	693;693	O14526;O14526-2	FCHO1_HUMAN;.	D	693	ENSP00000252771:A693D;ENSP00000373785:A693D;ENSP00000437978:A693D	ENSP00000252771:A693D	A	+	2	0	FCHO1	17754966	0.227000	0.23707	0.613000	0.29037	0.049000	0.14656	4.358000	0.59442	1.877000	0.54381	0.305000	0.20034	GCC		0.617	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		25	30	1	0	6.12954e-19	0.004656	8.24082e-19	25	30				
KCNN1	3780	broad.mit.edu	37	19	18092827	18092827	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:18092827A>T	ENST00000222249.9	+	5	1127	c.808A>T	c.(808-810)Acg>Tcg	p.T270S		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	270					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CACCTTCAACACGCGCTTCGT	0.612																																							uc002nht.2		NA																	0					0						c.(808-810)ACG>TCG		potassium intermediate/small conductance							57.0	41.0	46.0					19																	18092827		2202	4300	6502	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18092827A>T	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.808A>T	19.37:g.18092827A>T	ENSP00000476519:p.Thr270Ser					KCNN1_uc010xqa.1_Missense_Mutation_p.T270S	p.T270S	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			5	1118	+			270					Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.808A>T		.	.	.	.	.	.	.	.	.	.	A	22.2	4.263117	0.80358	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.80982	2.52	0.49582	D	0.999807	B	0.28933	0.228	B	0.34093	0.175	T	0.68243	-0.5460	9	0.51188	T	0.08	-17.2725	12.8372	0.57780	1.0:0.0:0.0:0.0	.	270	Q92952	KCNN1_HUMAN	S	287;270	.	ENSP00000222249:T287S	T	+	1	0	KCNN1	17953827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.097000	0.94193	1.925000	0.55765	0.459000	0.35465	ACG		0.612	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		3	10	0	0	0	0.004672	0	3	10				
ZNF93	81931	broad.mit.edu	37	19	20045245	20045245	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:20045245C>G	ENST00000343769.5	+	4	1509	c.1481C>G	c.(1480-1482)tCt>tGt	p.S494C	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S494C(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AACCAGTCCTCTTCCCTTACT	0.368																																							uc002non.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1480-1482)TCT>TGT		zinc finger protein 93							47.0	51.0	50.0					19																	20045245		2182	4267	6449	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045245C>G	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1481C>G	19.37:g.20045245C>G	ENSP00000342002:p.Ser494Cys						p.S494C	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	1592	+			494			C2H2-type 13.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1481C>G	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	9.205	1.029507	0.19512	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.08008	3.14	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	M	0.88704	2.975	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.06250	-1.0837	9	0.87932	D	0	.	4.6298	0.12496	0.0:0.5889:0.4111:0.0	.	494	P35789	ZNF93_HUMAN	C	494;466	ENSP00000342002:S494C	ENSP00000342002:S494C	S	+	2	0	ZNF93	19906245	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	1.261000	0.32980	0.192000	0.20272	0.195000	0.17529	TCT		0.368	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		4	24	0	0	0	0.009096	0	4	24				
ZNF682	91120	broad.mit.edu	37	19	20118030	20118030	+	Missense_Mutation	SNP	G	G	A	rs376297910		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:20118030G>A	ENST00000397165.2	-	4	441	c.281C>T	c.(280-282)tCa>tTa	p.S94L	ZNF682_ENST00000595736.1_Missense_Mutation_p.S18L|ZNF682_ENST00000597972.1_Missense_Mutation_p.S100L|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.S62L|ZNF682_ENST00000397162.1_Missense_Mutation_p.S62L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S94L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTTTGGAATGAATCTTGCAT	0.368																																							uc002noq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(280-282)TCA>TTA		zinc finger protein 682 isoform 1							83.0	74.0	77.0					19																	20118030		1912	4166	6078	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20118030G>A	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.281C>T	19.37:g.20118030G>A	ENSP00000380351:p.Ser94Leu					ZNF682_uc002noo.2_Missense_Mutation_p.S62L|ZNF682_uc002nop.2_Missense_Mutation_p.S62L|ZNF682_uc010eck.2_Missense_Mutation_p.S18L	p.S94L	NM_033196	NP_149973	O95780	ZN682_HUMAN			4	404	-			94					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.281C>T	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	G	4.813	0.151087	0.09185	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.06294	3.41;3.32;3.32	1.09	-1.17	0.09648	.	.	.	.	.	T	0.05914	0.0154	L	0.52126	1.63	0.09310	N	1	B	0.19583	0.037	B	0.15052	0.012	T	0.37619	-0.9698	9	0.54805	T	0.06	.	3.4076	0.07347	0.6088:0.0:0.3912:0.0	.	94	O95780	ZN682_HUMAN	L	94;62;62	ENSP00000380351:S94L;ENSP00000380348:S62L;ENSP00000351324:S62L	ENSP00000351324:S62L	S	-	2	0	ZNF682	19979030	.	.	0.008000	0.14137	0.008000	0.06430	.	.	-0.344000	0.08338	-0.339000	0.08088	TCA		0.368	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		5	19	0	0	0	0.000602	0	5	19				
ZNF676	163223	broad.mit.edu	37	19	22363185	22363185	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:22363185C>A	ENST00000397121.2	-	3	1651	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G445V(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTTCTCTCCAGCATGAAT	0.428																																							uc002nqs.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1333-1335)GGA>GTA		zinc finger protein 676							95.0	96.0	96.0					19																	22363185		2108	4251	6359	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363185C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1334G>T	19.37:g.22363185C>A	ENSP00000380310:p.Gly445Val						p.G445V	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1652	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	445					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1334G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.057411	0.36277	.	.	ENSG00000196109	ENST00000397121	T	0.23552	1.9	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29061	0.0722	M	0.76938	2.355	0.54753	D	0.999983	P	0.35628	0.513	B	0.39840	0.311	T	0.09422	-1.0675	9	0.72032	D	0.01	.	4.3444	0.11126	0.0:0.7365:0.0:0.2635	.	445	Q8N7Q3	ZN676_HUMAN	V	445	ENSP00000380310:G445V	ENSP00000380310:G445V	G	-	2	0	ZNF676	22155025	0.003000	0.15002	0.079000	0.20413	0.079000	0.17450	0.418000	0.21230	0.192000	0.20272	0.195000	0.17529	GGA		0.428	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		18	47	1	0	9.16793e-09	0.00499	1.10106e-08	18	47				
ZNF254	9534	broad.mit.edu	37	19	24310356	24310356	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:24310356C>G	ENST00000357002.4	+	4	1669	c.1554C>G	c.(1552-1554)taC>taG	p.Y518*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.Y433*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	518					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y518*(2)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAAACCCTACAAATGTGAAG	0.368																																							uc002nru.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1552-1554)TAC>TAG		zinc finger protein 254							52.0	55.0	54.0					19																	24310356		2182	4282	6464	SO:0001587	stop_gained	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310356C>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1554C>G	19.37:g.24310356C>G	ENSP00000349494:p.Tyr518*					ZNF254_uc010xrk.1_Nonsense_Mutation_p.Y433*	p.Y518*	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1688	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	518			C2H2-type 12.		A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	37	c.1554C>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983982	0.53827	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	.	.	.	1.11	-0.0638	0.13775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9443	0.13982	0.0:0.7346:0.0:0.2654	.	.	.	.	X	433;518	.	ENSP00000445527:Y433X	Y	+	3	2	ZNF254	24102196	0.000000	0.05858	0.785000	0.31869	0.692000	0.40212	-1.508000	0.02266	0.530000	0.28619	0.305000	0.20034	TAC		0.368	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		14	15	0	0	0	0.00245	0	14	15				
TSHZ3	57616	broad.mit.edu	37	19	31769448	31769448	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:31769448A>G	ENST00000240587.4	-	2	1578	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	417					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S234S(2)|p.S417S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTTCATAGCAGAGTTGGTGA	0.567																																							uc002nsy.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1249-1251)TCT>TCC		zinc finger protein 537							130.0	122.0	125.0					19																	31769448		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769448A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1251T>C	19.37:g.31769448A>G							p.S417S	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1316	-	Esophageal squamous(110;0.226)		417					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1251T>C	CCDS12421.2																																																																																				0.567	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		50	113	0	0	0	0.01441	0	50	113				
MAG	4099	broad.mit.edu	37	19	35804322	35804322	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:35804322G>C	ENST00000392213.3	+	11	2005	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.E591Q	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	616					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.E616Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGACGGAGGAGCTAGCTGA	0.652																																							uc002nyy.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(1846-1848)GAG>CAG		myelin associated glycoprotein isoform a							68.0	58.0	61.0					19																	35804322		2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804322G>C	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1846G>C	19.37:g.35804322G>C	ENSP00000376048:p.Glu616Gln					MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Missense_Mutation_p.E591Q|MAG_uc002nyz.1_Missense_Mutation_p.E616Q	p.E616Q	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1995	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	616			Cytoplasmic (Potential).		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1846G>C	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495344	0.64186	.	.	ENSG00000105695	ENST00000262624;ENST00000392213;ENST00000537831	T;T	0.70164	-0.46;-0.36	4.43	4.43	0.53597	.	0.057112	0.64402	D	0.000002	T	0.66366	0.2782	N	0.19112	0.55	0.32980	D	0.523515	P;D	0.65815	0.947;0.995	D;P	0.65140	0.932;0.763	T	0.71613	-0.4540	10	0.35671	T	0.21	.	12.4	0.55407	0.0:0.0:1.0:0.0	.	653;616	Q59GD9;P20916	.;MAG_HUMAN	Q	653;616;591	ENSP00000376048:E616Q;ENSP00000440695:E591Q	ENSP00000262624:E653Q	E	+	1	0	MAG	40496162	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.034000	0.64152	2.274000	0.75844	0.462000	0.41574	GAG		0.652	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		12	50	0	0	0	0.010729	0	12	50				
ZBTB32	27033	broad.mit.edu	37	19	36205667	36205667	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:36205667C>T	ENST00000392197.2	+	3	457	c.139C>T	c.(139-141)Cta>Tta	p.L47L	ZBTB32_ENST00000262630.3_Silent_p.L47L			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	47	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L47L(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCTGGTGCTAGCAGGTGT	0.622																																							uc002oay.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(139-141)CTA>TTA		zinc finger and BTB domain containing 32							43.0	45.0	44.0					19																	36205667		2203	4300	6503	SO:0001819	synonymous_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205667C>T	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.139C>T	19.37:g.36205667C>T						ZBTB32_uc002oaz.2_RNA	p.L47L	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	349	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		47			BTB.		Q8WVP2	Silent	SNP	ENST00000392197.2	37	c.139C>T	CCDS12471.1																																																																																				0.622	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		19	91	0	0	0	0.008871	0	19	91				
NFKBID	84807	broad.mit.edu	37	19	36387833	36387833	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:36387833T>C	ENST00000396901.1	-	5	707	c.134A>G	c.(133-135)cAg>cGg	p.Q45R	NFKBID_ENST00000606253.1_Missense_Mutation_p.Q45R|NFKBID_ENST00000352614.2_Missense_Mutation_p.Q197R|NFKBID_ENST00000585544.1_5'Flank	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	45					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTCCTCATCCTGGGCCAGCAG	0.637																																							uc002oci.1		NA																	0					0						c.(133-135)CAG>CGG		nuclear factor of kappa light polypeptide gene							47.0	51.0	50.0					19																	36387833		1969	4155	6124	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36387833T>C	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.134A>G	19.37:g.36387833T>C	ENSP00000380109:p.Gln45Arg					NFKBID_uc002och.1_5'Flank|NFKBID_uc002ocj.1_Missense_Mutation_p.Q60R	p.Q45R	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN			5	708	-			45					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.134A>G	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418602	0.25552	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.55588	0.51;1.2	5.13	4.1	0.47936	Ankyrin repeat-containing domain (1);	0.235553	0.39407	N	0.001380	T	0.25901	0.0631	N	0.04335	-0.225	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.005	T	0.04216	-1.0968	10	0.29301	T	0.29	.	5.3575	0.16069	0.0:0.091:0.1798:0.7293	.	197;45	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	R	197;45	ENSP00000252985:Q197R;ENSP00000380109:Q45R	ENSP00000252985:Q197R	Q	-	2	0	NFKBID	41079673	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.619000	0.46401	0.775000	0.33450	-0.488000	0.04728	CAG		0.637	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		4	113	0	0	0	0.009096	0	4	113				
ZNF607	84775	broad.mit.edu	37	19	38190715	38190715	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:38190715C>T	ENST00000355202.4	-	5	912	c.317G>A	c.(316-318)aGa>aAa	p.R106K	CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.R106K|ZNF607_ENST00000395835.3_Missense_Mutation_p.R105K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R106K(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTATGAATTCTCTGATGGAG	0.348																																							uc002ohc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(316-318)AGA>AAA		zinc finger protein 607							104.0	109.0	107.0					19																	38190715		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190715C>T	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.317G>A	19.37:g.38190715C>T	ENSP00000347338:p.Arg106Lys					ZNF607_uc002ohb.1_Missense_Mutation_p.R105K	p.R106K	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	913	-			106					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.317G>A	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	8.804	0.933574	0.18206	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.18338	2.22;2.22	2.38	-0.146	0.13432	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B;P	0.40032	0.001;0.699	B;B	0.43889	0.001;0.435	T	0.31308	-0.9948	9	0.11794	T	0.64	.	6.144	0.20275	0.0:0.3748:0.0:0.6252	.	106;105	Q96SK3;F5H141	ZN607_HUMAN;.	K	106;105	ENSP00000347338:R106K;ENSP00000438015:R105K	ENSP00000347338:R106K	R	-	2	0	ZNF607	42882555	0.000000	0.05858	0.002000	0.10522	0.074000	0.17049	-1.727000	0.01860	-0.115000	0.11915	-0.291000	0.09656	AGA		0.348	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		9	46	0	0	0	0.004482	0	9	46				
RYR1	6261	broad.mit.edu	37	19	38934893	38934893	+	Missense_Mutation	SNP	C	C	G	rs193922757		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:38934893C>G	ENST00000359596.3	+	6	529	c.529C>G	c.(529-531)Cgc>Ggc	p.R177G	RYR1_ENST00000355481.4_Missense_Mutation_p.R177G|RYR1_ENST00000360985.3_Missense_Mutation_p.R177G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	177	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.		R -> C (in MHS1). {ECO:0000269|PubMed:16163667}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R177G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTCCTCCGAGCGCTACCTGGT	0.602																																							uc002oit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	GRCh37	CM054848	RYR1	M		c.(529-531)CGC>GGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						94.0	76.0	82.0					19																	38934893		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38934893C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.529C>G	19.37:g.38934893C>G	ENSP00000352608:p.Arg177Gly					RYR1_uc002oiu.2_Missense_Mutation_p.R177G	p.R177G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	659	+	all_cancers(60;7.91e-06)		177		R -> C (in MHS1).	Cytoplasmic.|MIR 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.529C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488677	0.26686	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98762	-5.12;-5.12;-5.12	4.26	4.26	0.50523	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.64402	U	0.000011	D	0.98991	0.9656	M	0.86343	2.81	0.42940	D	0.994345	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	D	0.99513	1.0956	10	0.87932	D	0	.	9.4343	0.38628	0.2119:0.7881:0.0:0.0	.	177;177	P21817-2;P21817	.;RYR1_HUMAN	G	177	ENSP00000352608:R177G;ENSP00000347667:R177G;ENSP00000354254:R177G	ENSP00000347667:R177G	R	+	1	0	RYR1	43626733	1.000000	0.71417	0.998000	0.56505	0.322000	0.28314	1.457000	0.35212	2.211000	0.71520	0.448000	0.29417	CGC		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	36	0	0	0	0.000602	0	5	36				
ZFP36	7538	broad.mit.edu	37	19	39898382	39898382	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:39898382G>T	ENST00000248673.3	+	2	82		c.e2-1		MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Splice_Site|ZFP36_ENST00000594045.1_Splice_Site	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein						3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)	p.?(2)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATTTCCGCAGAGCCTCCTGT	0.672																																					NSCLC(67;1164 1324 12056 21056 30097)	NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1		NA																	2	Unknown(2)		lung(2)	pancreas(1)	1						c.e2-1		zinc finger protein 36, C3H type, homolog							114.0	127.0	123.0					19																	39898382		2203	4298	6501	SO:0001630	splice_region_variant	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898382G>T	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.25-1G>T	19.37:g.39898382G>T						ZFP36_uc010egn.1_Intron	p.S9_splice	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	83	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)							B2RA54	Splice_Site	SNP	ENST00000248673.3	37	c.25_splice		.	.	.	.	.	.	.	.	.	.	G	16.68	3.189561	0.57909	.	.	ENSG00000128016	ENST00000248673	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7335	0.62804	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFP36	44590222	1.000000	0.71417	0.994000	0.49952	0.900000	0.52787	6.242000	0.72376	2.082000	0.62665	0.478000	0.44815	.		0.672	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	121	229	1	0	9.11594e-60	0.01441	1.28508e-59	121	229				
PLEKHG2	64857	broad.mit.edu	37	19	39914254	39914254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:39914254C>T	ENST00000409794.3	+	18	3410	c.2560C>T	c.(2560-2562)Cag>Tag	p.Q854*	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Q795*|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.Q825*|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	854					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q795*(1)|p.Q812*(1)|p.Q854*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCCAACCCCAGCCATCCCC	0.692																																							uc010xuz.1		NA																	3	Substitution - Nonsense(3)		lung(3)	skin(2)|pancreas(1)|breast(1)	4						c.(2560-2562)CAG>TAG		common-site lymphoma/leukemia guanine nucleotide							21.0	21.0	21.0					19																	39914254		2195	4293	6488	SO:0001587	stop_gained	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914254C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2560C>T	19.37:g.39914254C>T	ENSP00000386733:p.Gln854*					PLEKHG2_uc010xuy.1_Nonsense_Mutation_p.Q795*|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Nonsense_Mutation_p.Q632*	p.Q854*	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	2885	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		854					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	ENST00000409794.3	37	c.2560C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	38	7.266912	0.98175	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	.	.	.	5.7	5.7	0.88788	.	0.149149	0.31760	N	0.007118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3419	0.74303	0.0:1.0:0.0:0.0	.	.	.	.	X	854;825;795	.	ENSP00000386733:Q854X	Q	+	1	0	PLEKHG2	44606094	0.891000	0.30450	1.000000	0.80357	0.967000	0.64934	1.987000	0.40687	2.694000	0.91930	0.655000	0.94253	CAG		0.692	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		11	21	0	0	0	0.008291	0	11	21				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																							uc002omp.3		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	53	0	0	0	0.003954	0	7	53				
CYP2B6	1555	broad.mit.edu	37	19	41509988	41509988	+	Missense_Mutation	SNP	G	G	A	rs572134005		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:41509988G>A	ENST00000324071.4	+	2	261	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	CYP2B6_ENST00000330446.5_Missense_Mutation_p.R45Q|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.R9Q	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	85					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.R85Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GAGGCCATACGGGAGGCCCTT	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16211	0.0		0.0	False		,,,				2504	0.0						uc002opr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(253-255)CGG>CAG		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						85.0	85.0	85.0					19																	41509988		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41509988G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.254G>A	19.37:g.41509988G>A	ENSP00000324648:p.Arg85Gln					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.R45Q	p.R85Q	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	261	+			85					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.254G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.958368	0.74016	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.68331	-0.32;-0.32	4.15	0.562	0.17290	.	0.219786	0.36134	N	0.002763	T	0.62146	0.2404	M	0.69185	2.1	0.09310	N	1	D;P	0.63880	0.993;0.629	P;B	0.46479	0.518;0.246	T	0.57659	-0.7773	10	0.87932	D	0	.	5.6865	0.17805	0.4658:0.0:0.5342:0.0	.	45;85	B4DWP3;P20813	.;CP2B6_HUMAN	Q	85;45	ENSP00000324648:R85Q;ENSP00000330650:R45Q	ENSP00000324648:R85Q	R	+	2	0	CYP2B6	46201828	0.988000	0.35896	0.073000	0.20177	0.766000	0.43426	2.412000	0.44609	0.421000	0.25980	0.472000	0.43445	CGG		0.582	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		20	99	0	0	0	0.008871	0	20	99				
ARHGEF1	9138	broad.mit.edu	37	19	42407924	42407924	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42407924G>T	ENST00000354532.3	+	20	2053	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	ARHGEF1_ENST00000337665.4_Silent_p.L650L|ARHGEF1_ENST00000347545.4_Silent_p.L602L|ARHGEF1_ENST00000378152.4_Silent_p.L617L|ARHGEF1_ENST00000599846.1_Silent_p.L691L	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	635					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L650L(2)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCCTATGCTGAGCGAGTTCA	0.627																																							uc002orx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1903-1905)CTG>CTT		Rho guanine nucleotide exchange factor 1 isoform							89.0	78.0	82.0					19																	42407924		2203	4300	6503	SO:0001819	synonymous_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42407924G>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1905G>T	19.37:g.42407924G>T						ARHGEF1_uc002ory.2_Silent_p.L602L|ARHGEF1_uc002orz.2_Silent_p.L473L|ARHGEF1_uc002osa.2_Silent_p.L650L|ARHGEF1_uc002osb.2_Silent_p.L617L|ARHGEF1_uc002osc.2_Silent_p.L389L|ARHGEF1_uc002osd.2_Silent_p.L294L|ARHGEF1_uc002ose.2_Silent_p.L79L	p.L635L	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	20	2014	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	635					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.1905G>T	CCDS12591.1																																																																																				0.627	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		21	36	1	0	1.90627e-21	0.012319	2.58441e-21	21	36				
POU2F2	5452	broad.mit.edu	37	19	42621437	42621437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42621437C>A	ENST00000526816.2	-	5	283	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	POU2F2_ENST00000533720.1_Missense_Mutation_p.A90S|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000389341.5_Missense_Mutation_p.A90S|POU2F2_ENST00000560398.1_Missense_Mutation_p.A112S|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000342301.4_Missense_Mutation_p.A90S|POU2F2_ENST00000529067.1_Missense_Mutation_p.A90S|POU2F2_ENST00000529952.1_Missense_Mutation_p.A90S			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	90					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A90S(4)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	ATGAGTTGGGCCTGGGGCAGA	0.642																																							uc002osp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(268-270)GCC>TCC		POU domain, class 2, transcription factor 2							82.0	79.0	80.0					19																	42621437		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621437C>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.268G>T	19.37:g.42621437C>A	ENSP00000431603:p.Ala90Ser					POU2F2_uc002osn.2_Missense_Mutation_p.A90S|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Missense_Mutation_p.A90S|POU2F2_uc002osr.1_Missense_Mutation_p.A90S	p.A90S	NM_002698	NP_002689	P09086	PO2F2_HUMAN			5	335	-		Prostate(69;0.059)	90					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.268G>T	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800856	0.31869	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952;ENST00000531773	D;D;D;T;D	0.82803	-1.6;-1.6;-1.65;-1.4;-1.57	4.19	4.19	0.49359	.	0.556047	0.16938	N	0.193389	T	0.69584	0.3127	N	0.22421	0.69	0.27529	N	0.951155	B;B;B	0.29037	0.048;0.231;0.114	B;B;B	0.27608	0.054;0.081;0.053	T	0.58081	-0.7699	10	0.22109	T	0.4	.	9.6043	0.39624	0.0:0.9006:0.0:0.0994	.	90;90;90	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	S	90;90;90;90;89;90;90;78	ENSP00000373992:A90S;ENSP00000339369:A90S;ENSP00000437221:A90S;ENSP00000437224:A90S;ENSP00000436988:A90S	ENSP00000292077:A90S	A	-	1	0	POU2F2	47313277	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.192000	0.32150	2.335000	0.79485	0.305000	0.20034	GCC		0.642	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			30	105	1	0	7.01153e-11	0.007291	8.67924e-11	30	105				
ZNF526	116115	broad.mit.edu	37	19	42730041	42730041	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42730041G>C	ENST00000301215.3	+	3	1711	c.1486G>C	c.(1486-1488)Ggt>Cgt	p.G496R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G496R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GACACACACGGGTGAGAGGCC	0.617																																							uc002osz.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1486-1488)GGT>CGT		zinc finger protein 526							79.0	79.0	79.0					19																	42730041		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730041G>C	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1486G>C	19.37:g.42730041G>C	ENSP00000301215:p.Gly496Arg						p.G496R	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	1642	+		Prostate(69;0.0704)	496					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1486G>C	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435475	0.83885	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.26223	1.75	4.8	4.8	0.61643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000003	T	0.47040	0.1424	L	0.55834	1.745	0.51482	D	0.999929	D	0.76494	0.999	D	0.73380	0.98	T	0.43540	-0.9385	10	0.72032	D	0.01	-9.3735	17.1539	0.86784	0.0:0.0:1.0:0.0	.	496	Q8TF50	ZN526_HUMAN	R	352;496	ENSP00000301215:G496R	ENSP00000301215:G496R	G	+	1	0	ZNF526	47421881	1.000000	0.71417	0.378000	0.26068	0.964000	0.63967	5.548000	0.67255	2.656000	0.90262	0.655000	0.94253	GGT		0.617	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		19	86	0	0	0	0.006122	0	19	86				
CIC	23152	broad.mit.edu	37	19	42791043	42791043	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:42791043G>T	ENST00000575354.2	+	2	228	c.188G>T	c.(187-189)aGc>aTc	p.S63I	CIC_ENST00000160740.3_Missense_Mutation_p.S63I|CIC_ENST00000572681.2_Missense_Mutation_p.S972I|CIC_ENST00000575839.2_3'UTR	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	63	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S63I(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAACCTGCCAGCCACCCAGTG	0.667			"""Mis, F, S"""		oligodendroglioma																																		uc002otf.1		NA		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(187-189)AGC>ATC		capicua homolog							29.0	30.0	30.0					19																	42791043		2203	4298	6501	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791043G>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.188G>T	19.37:g.42791043G>T	ENSP00000458663:p.Ser63Ile						p.S63I	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			2	228	+		Prostate(69;0.00682)	63			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.188G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355385	0.41700	.	.	ENSG00000079432	ENST00000160740	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	T	0.29850	0.0746	N	0.14661	0.345	0.33901	D	0.638488	D	0.61080	0.989	P	0.47573	0.55	T	0.43798	-0.9369	8	0.87932	D	0	-12.5763	7.4186	0.27059	0.1171:0.0:0.8829:0.0	.	63	Q96RK0	CIC_HUMAN	I	63	.	ENSP00000160740:S63I	S	+	2	0	CIC	47482883	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.650000	0.37292	2.046000	0.60703	0.306000	0.20318	AGC		0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	41	1	0	2.31682e-05	0.003163	2.54658e-05	15	41				
PSG11	5680	broad.mit.edu	37	19	43530537	43530537	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs1064913	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43530537G>A	ENST00000401740.1	-	0	91				PSG11_ENST00000306322.7_De_novo_Start_OutOfFrame|PSG11_ENST00000320078.7_De_novo_Start_OutOfFrame|PSG11_ENST00000403486.1_De_novo_Start_OutOfFrame			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCTCTGCTGCGTGCATGTTCT	0.582													.|||	10	0.00199681	0.0	0.0	5008	,	,		17952	0.0099		0.0	False		,,,				2504	0.0						uc002ovm.1		NA																	0					0						c.(-14--10)CACGC>CATGC		pregnancy specific beta-1-glycoprotein 11							99.0	92.0	95.0					19																	43530537		2198	4298	6496			5680				female pregnancy	extracellular region		g.chr19:43530537G>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.-13C>T	19.37:g.43530537G>A						PSG11_uc002ouw.2_Silent_p.H2H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Silent_p.H2H|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.H2H|PSG11_uc002ovn.1_Silent_p.H2H|PSG11_uc002ovo.1_Translation_Start_Site|PSG11_uc002ovp.1_Translation_Start_Site		NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			1	95	-		Prostate(69;0.00682)						B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Translation_Start_Site	SNP	ENST00000401740.1	37	c.-12C>T	CCDS12614.2																																																																																				0.582	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		39	20	0	0	0	0.004878	0	39	20				
PSG2	5670	broad.mit.edu	37	19	43576091	43576092	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:43576091_43576092GG>TT	ENST00000406487.1	-	4	822_823	c.724_725CC>AA	c.(724-726)CCc>AAc	p.P242N		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P242N(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTGAATTCTGGGGAGGTCTGGA	0.495																																							uc002ovr.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(724-726)CCC>AAC		pregnancy specific beta-1-glycoprotein 2																																				SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576091_43576092GG>TT		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.724_725delinsTT	19.37:g.43576091_43576092delinsTT	ENSP00000385706:p.Pro242Asn					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.P242N|PSG2_uc010eiq.1_Missense_Mutation_p.P242N|PSG2_uc002ovs.3_Missense_Mutation_p.P242N|PSG2_uc002ovt.3_Missense_Mutation_p.P242N	p.P242N	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	817_818	-		Prostate(69;0.00682)	242			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	DNP	ENST00000406487.1	37	c.724_725CC>AA	CCDS12616.1																																																																																				0.495	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		27	93	0	0	0	0.004672	0	27	93				
PHLDB3	653583	broad.mit.edu	37	19	44006403	44006403	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:44006403G>A	ENST00000292140.5	-	3	606	c.246C>T	c.(244-246)gcC>gcT	p.A82A	PHLDB3_ENST00000599242.1_Silent_p.A82A	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	82							enzyme binding (GO:0019899)	p.A82A(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGGAGGTGTGGCCGCCATAG	0.652																																							uc002own.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(244-246)GCC>GCT		pleckstrin homology-like domain, family B,							16.0	12.0	13.0					19																	44006403		2188	4260	6448	SO:0001819	synonymous_variant	653583							g.chr19:44006403G>A		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.246C>T	19.37:g.44006403G>A						PHLDB3_uc002owo.2_Silent_p.A82A	p.A82A	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN			3	505	-		Prostate(69;0.0153)	82					Q8N7Z4	Silent	SNP	ENST00000292140.5	37	c.246C>T	CCDS12621.2																																																																																				0.652	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			3	3	0	0	0	0.004672	0	3	3				
IRGQ	126298	broad.mit.edu	37	19	44096300	44096300	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:44096300C>A	ENST00000602269.1	-	2	1935	c.1750G>T	c.(1750-1752)Ggt>Tgt	p.G584C	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.G584C|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	584	Ala-rich.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCTGCACCACCCGCAGGCCAC	0.716																																							uc002oww.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1750-1752)GGT>TGT		immunity-related GTPase family, Q							17.0	22.0	20.0					19																	44096300		2185	4267	6452	SO:0001583	missense	126298						protein binding	g.chr19:44096300C>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1750G>T	19.37:g.44096300C>A	ENSP00000472250:p.Gly584Cys					IRGQ_uc010eiv.2_Missense_Mutation_p.G584C	p.G584C	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			2	1868	-		Prostate(69;0.0199)	584			Ala-rich.		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1750G>T	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075672	0.76415	.	.	ENSG00000167378	ENST00000422989	T	0.44482	0.92	4.69	4.69	0.59074	.	0.237933	0.36234	N	0.002720	T	0.55847	0.1946	L	0.44542	1.39	0.39738	D	0.971711	D	0.89917	1.0	D	0.97110	1.0	T	0.53920	-0.8370	10	0.38643	T	0.18	-3.4763	15.5185	0.75846	0.0:1.0:0.0:0.0	.	584	Q8WZA9	IRGQ_HUMAN	C	584	ENSP00000387535:G584C	ENSP00000387535:G584C	G	-	1	0	IRGQ	48788140	0.955000	0.32602	0.988000	0.46212	0.959000	0.62525	3.353000	0.52247	2.596000	0.87737	0.655000	0.94253	GGT		0.716	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		11	51	1	0	3.07112e-06	0.010729	3.46216e-06	11	51				
GEMIN7	79760	broad.mit.edu	37	19	45593530	45593530	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:45593530C>T	ENST00000270257.4	+	3	405	c.158C>T	c.(157-159)tCc>tTc	p.S53F	GEMIN7_ENST00000391951.2_Missense_Mutation_p.S53F|GEMIN7_ENST00000591607.1_Missense_Mutation_p.S53F|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.S53F|CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000221462.4_5'Flank|PPP1R37_ENST00000421905.1_5'Flank	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	53					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.S53F(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TCCCTGGAATCCCAGGAGCAG	0.627																																							uc002pap.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)TCC>TTC		gemin 7							40.0	40.0	40.0					19																	45593530		2203	4300	6503	SO:0001583	missense	79760				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593530C>T	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.158C>T	19.37:g.45593530C>T	ENSP00000270257:p.Ser53Phe					uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.S53F|GEMIN7_uc002par.1_Missense_Mutation_p.S53F	p.S53F	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	309	+		Ovarian(192;0.0728)|all_neural(266;0.112)	53					Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	c.158C>T	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	C	6.809	0.518292	0.13005	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	5.06	-1.46	0.08800	.	1.199760	0.05807	N	0.613287	T	0.40297	0.1111	L	0.43152	1.355	0.09310	N	0.999999	B	0.02656	0.0	B	0.10450	0.005	T	0.41179	-0.9523	9	0.49607	T	0.09	-20.9901	9.5191	0.39124	0.0:0.4154:0.0:0.5846	.	53	Q9H840	GEMI7_HUMAN	F	53	.	ENSP00000270257:S53F	S	+	2	0	GEMIN7	50285370	0.221000	0.23642	0.406000	0.26421	0.272000	0.26649	-0.261000	0.08694	-0.285000	0.09089	-1.164000	0.01763	TCC		0.627	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			13	71	0	0	0	0.013537	0	13	71				
GPR4	2828	broad.mit.edu	37	19	46094344	46094344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:46094344C>A	ENST00000323040.4	-	2	1725	c.781G>T	c.(781-783)Gag>Tag	p.E261*	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCGCTCCTCGAAGCCGCAG	0.637																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2		NA																	3	Substitution - Nonsense(3)		lung(3)	ovary(2)	2						c.(781-783)GAG>TAG		G protein-coupled receptor 4							36.0	40.0	39.0					19																	46094344		2202	4300	6502	SO:0001587	stop_gained	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094344C>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.781G>T	19.37:g.46094344C>A	ENSP00000319744:p.Glu261*					OPA3_uc010xxk.1_Intron	p.E261*	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1726	-			261			Extracellular (Potential).		A8K3T3|B0M0K1|Q6NWM4	Nonsense_Mutation	SNP	ENST00000323040.4	37	c.781G>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	44	11.148872	0.99522	.	.	ENSG00000177464	ENST00000323040	.	.	.	4.74	3.71	0.42584	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	10.5207	0.44918	0.0:0.905:0.0:0.095	.	.	.	.	X	261	.	ENSP00000319744:E261X	E	-	1	0	GPR4	50786184	0.989000	0.36119	1.000000	0.80357	0.900000	0.52787	2.832000	0.48152	1.226000	0.43582	0.455000	0.32223	GAG		0.637	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		29	49	1	0	9.39395e-14	0.00632	1.21352e-13	29	49				
IRF2BP1	26145	broad.mit.edu	37	19	46387917	46387917	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:46387917C>T	ENST00000302165.3	-	1	1459	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCGCCAGGTTCCGGGATGGGG	0.751																																							uc002pds.1		NA																	0					0						c.(1114-1116)CGG>CGA		interferon regulatory factor 2 binding protein							7.0	9.0	8.0					19																	46387917		1912	3835	5747	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387917C>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1116G>A	19.37:g.46387917C>T							p.R372R	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1460	-		all_neural(266;0.113)|Ovarian(192;0.127)	372					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.1116G>A	CCDS12678.1																																																																																				0.751	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		5	25	0	0	0	0.000602	0	5	25				
NOVA2	4858	broad.mit.edu	37	19	46443465	46443465	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:46443465C>A	ENST00000263257.5	-	4	1329	c.1135G>T	c.(1135-1137)Ggc>Tgc	p.G379C		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	379	Ala-rich.|Gly-rich.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G379C(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		accagcgggccgccccctccg	0.796																																							uc002pdv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1135-1137)GGC>TGC		neuro-oncological ventral antigen 2							4.0	5.0	4.0					19																	46443465		1470	2984	4454	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46443465C>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1135G>T	19.37:g.46443465C>A	ENSP00000263257:p.Gly379Cys						p.G379C	NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1183	-		all_neural(266;0.113)|Ovarian(192;0.127)	379			Ala-rich.|Gly-rich.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.1135G>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409085	0.25378	.	.	ENSG00000104967	ENST00000263257	T	0.52295	0.67	3.25	3.25	0.37280	.	.	.	.	.	T	0.28001	0.0690	N	0.08118	0	0.24446	N	0.994503	B	0.06786	0.001	B	0.01281	0.0	T	0.15607	-1.0431	9	0.52906	T	0.07	-4.2388	10.2393	0.43301	0.0:1.0:0.0:0.0	.	379	Q9UNW9	NOVA2_HUMAN	C	379	ENSP00000263257:G379C	ENSP00000263257:G379C	G	-	1	0	NOVA2	51135305	0.995000	0.38212	0.845000	0.33349	0.153000	0.21895	0.878000	0.28126	1.861000	0.53984	0.485000	0.47835	GGC		0.796	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		5	9	1	0	3.59834e-05	0.001168	3.94026e-05	5	9				
PRKD2	25865	broad.mit.edu	37	19	47193890	47193890	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:47193890C>A	ENST00000291281.4	-	13	2001	c.1776G>T	c.(1774-1776)gaG>gaT	p.E592D	PRKD2_ENST00000433867.1_Missense_Mutation_p.E592D|PRKD2_ENST00000601806.1_Missense_Mutation_p.E435D|PRKD2_ENST00000595515.1_Missense_Mutation_p.E592D|PRKD2_ENST00000600194.1_Missense_Mutation_p.E435D|RN7SL364P_ENST00000473668.2_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	592	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E592D(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGAGCTGGCTCTCCTGCTTGG	0.572																																							uc002pfh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1774-1776)GAG>GAT		protein kinase D2 isoform A							132.0	113.0	119.0					19																	47193890		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47193890C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1776G>T	19.37:g.47193890C>A	ENSP00000291281:p.Glu592Asp					PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'UTR|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.E112D|PRKD2_uc002pff.2_Missense_Mutation_p.E112D|PRKD2_uc002pfg.2_Missense_Mutation_p.E435D|PRKD2_uc002pfi.2_Missense_Mutation_p.E592D|PRKD2_uc002pfj.2_Missense_Mutation_p.E592D|PRKD2_uc010xye.1_Missense_Mutation_p.E592D|PRKD2_uc002pfk.2_Missense_Mutation_p.E435D	p.E592D	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	14	2118	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	592			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1776G>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807576	0.70797	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.66280	-0.2;-0.2	5.0	2.88	0.33553	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070917	0.53938	D	0.000050	T	0.61451	0.2348	N	0.21448	0.665	0.41592	D	0.9888	B;D	0.56287	0.374;0.975	B;D	0.65323	0.349;0.934	T	0.61554	-0.7039	10	0.59425	D	0.04	-21.8879	8.1134	0.30928	0.0:0.7448:0.0:0.2552	.	592;592	E7ER94;Q9BZL6	.;KPCD2_HUMAN	D	592	ENSP00000291281:E592D;ENSP00000393978:E592D	ENSP00000291281:E592D	E	-	3	2	PRKD2	51885730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.818000	0.27295	0.641000	0.30601	0.650000	0.86243	GAG		0.572	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		16	92	1	0	2.35188e-11	0.006122	2.94391e-11	16	92				
PLA2G4C	8605	broad.mit.edu	37	19	48578088	48578088	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:48578088G>A	ENST00000599921.1	-	12	1299	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PLA2G4C_ENST00000596510.1_5'Flank|PLA2G4C_ENST00000599111.1_Silent_p.L324L|PLA2G4C_ENST00000413144.2_Silent_p.L314L|PLA2G4C_ENST00000354276.3_Silent_p.L314L			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	314	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.L314L(3)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCAATTCTCGAGCATCTCAG	0.512																																							uc002phx.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(940-942)CTC>CTT		phospholipase A2, group IVC isoform 1 precursor							222.0	188.0	199.0					19																	48578088		2203	4300	6503	SO:0001819	synonymous_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48578088G>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.942C>T	19.37:g.48578088G>A						PLA2G4C_uc002phw.2_Silent_p.L249L|PLA2G4C_uc010elr.2_Silent_p.L314L|PLA2G4C_uc010xzd.1_Silent_p.L324L	p.L314L	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	12	1340	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	314			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	c.942C>T	CCDS12710.1																																																																																				0.512	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			35	160	0	0	0	0.003271	0	35	160				
PLEKHA4	57664	broad.mit.edu	37	19	49340593	49340593	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49340593C>T	ENST00000263265.6	-	20	2848	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR|HSD17B14_ENST00000263278.4_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	765						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.E765K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CATGCCCCCTCGTCTTGTGGC	0.677																																							uc002pkx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2293-2295)GAG>AAG		pleckstrin homology domain containing family A							37.0	39.0	38.0					19																	49340593		2200	4298	6498	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49340593C>T	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2293G>A	19.37:g.49340593C>T	ENSP00000263265:p.Glu765Lys					HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR	p.E765K	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	20	2844	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	765					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.2293G>A	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336869	0.41398	.	.	ENSG00000105559	ENST00000263265	T	0.30714	1.52	4.39	3.36	0.38483	.	0.227177	0.28555	N	0.014936	T	0.19366	0.0465	L	0.27053	0.805	0.80722	D	1	B	0.26635	0.155	B	0.11329	0.006	T	0.06935	-1.0799	10	0.87932	D	0	.	8.3599	0.32353	0.0:0.8917:0.0:0.1083	.	765	Q9H4M7	PKHA4_HUMAN	K	765	ENSP00000263265:E765K	ENSP00000263265:E765K	E	-	1	0	PLEKHA4	54032405	0.921000	0.31238	0.838000	0.33150	0.193000	0.23685	2.131000	0.42074	1.230000	0.43646	0.450000	0.29827	GAG		0.677	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			14	65	0	0	0	0.003163	0	14	65				
PLEKHA4	57664	broad.mit.edu	37	19	49357336	49357336	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49357336C>G	ENST00000263265.6	-	11	1659	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L	PLEKHA4_ENST00000355496.5_Silent_p.L343L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	368						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.L368L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ACAACTTGGTCAGCAGCGTCT	0.617																																							uc002pkx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1102-1104)CTG>CTC		pleckstrin homology domain containing family A							39.0	40.0	39.0					19																	49357336		2203	4300	6503	SO:0001819	synonymous_variant	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49357336C>G	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1104G>C	19.37:g.49357336C>G						PLEKHA4_uc002pkw.1_5'UTR|PLEKHA4_uc010eml.2_Silent_p.L343L	p.L368L	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	11	1655	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	368					Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	c.1104G>C	CCDS12737.1																																																																																				0.617	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			4	53	0	0	0	0.009096	0	4	53				
PTOV1	53635	broad.mit.edu	37	19	50360333	50360333	+	Silent	SNP	C	C	T	rs199546041		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50360333C>T	ENST00000601675.1	+	6	764	c.660C>T	c.(658-660)taC>taT	p.Y220Y	AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000221557.9_Silent_p.Y188Y|PTOV1_ENST00000391842.1_Silent_p.Y220Y|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000600603.1_Silent_p.Y188Y|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000599732.1_Silent_p.Y220Y|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000601638.1_Silent_p.Y188Y			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	220	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y220Y(2)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCATCCCCTACGACCAGAGCG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		15839	0.0		0.001	False		,,,				2504	0.0						uc002pqf.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(658-660)TAC>TAT		prostate tumor overexpressed 1		C		1,4405	2.1+/-5.4	0,1,2202	201.0	181.0	188.0		660	-3.1	1.0	19		188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTOV1	NM_017432.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		220/417	50360333	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50360333C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.660C>T	19.37:g.50360333C>T						PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.Y188Y|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.Y220Y	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	6	830	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	220			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.660C>T	CCDS12782.1																																																																																				0.617	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		56	244	0	0	0	0.01441	0	56	244				
PNKP	11284	broad.mit.edu	37	19	50368512	50368512	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50368512G>C	ENST00000322344.3	-	4	479	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	PNKP_ENST00000600573.1_Missense_Mutation_p.L124V|PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000600910.1_Missense_Mutation_p.L124V|PNKP_ENST00000596014.1_Missense_Mutation_p.L124V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	124					dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.L124V(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGACACCAGAGGGGTGCCA	0.572								Other BER factors																															uc002pqh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(370-372)CTG>GTG	Other_BER_factors	polynucleotide kinase 3' phosphatase							70.0	68.0	69.0					19																	50368512		2203	4300	6503	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50368512G>C	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.370C>G	19.37:g.50368512G>C	ENSP00000323511:p.Leu124Val					PNKP_uc002pqg.2_5'UTR|PNKP_uc002pqi.2_Missense_Mutation_p.L85V|PNKP_uc002pqj.2_Missense_Mutation_p.L124V|PNKP_uc010enm.2_Missense_Mutation_p.L124V|PNKP_uc002pqk.2_Missense_Mutation_p.L124V	p.L124V	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	3	422	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	124					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.370C>G	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	G	6.833	0.522858	0.13066	.	.	ENSG00000039650	ENST00000322344	T	0.42900	0.96	3.75	2.63	0.31362	.	2.795210	0.01768	N	0.030991	T	0.26666	0.0652	N	0.08118	0	0.09310	N	1	B;B	0.18610	0.029;0.0	B;B	0.15870	0.014;0.002	T	0.11767	-1.0574	10	0.27785	T	0.31	-3.1414	9.1009	0.36667	0.0:0.2238:0.7762:0.0	.	85;124	Q9BUL2;Q96T60	.;PNKP_HUMAN	V	124	ENSP00000323511:L124V	ENSP00000323511:L124V	L	-	1	2	PNKP	55060324	0.815000	0.29118	0.406000	0.26421	0.306000	0.27790	1.657000	0.37366	1.936000	0.56123	0.561000	0.74099	CTG		0.572	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		12	55	0	0	0	0.013537	0	12	55				
ZNF473	25888	broad.mit.edu	37	19	50549823	50549823	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50549823G>A	ENST00000595661.1	+	6	2618	c.2123G>A	c.(2122-2124)gGg>gAg	p.G708E	ZNF473_ENST00000391821.2_Missense_Mutation_p.G708E|ZNF473_ENST00000270617.3_Missense_Mutation_p.G708E|ZNF473_ENST00000445728.3_Missense_Mutation_p.G696E|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	708					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G708E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AACGAATGCGGGAAAACGTTC	0.483																																							uc002prn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2122-2124)GGG>GAG		zinc finger protein 473							100.0	103.0	102.0					19																	50549823		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549823G>A	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2123G>A	19.37:g.50549823G>A	ENSP00000472808:p.Gly708Glu					ZNF473_uc002prm.2_Missense_Mutation_p.G708E|ZNF473_uc010ybo.1_Missense_Mutation_p.G696E	p.G708E	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	2360	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	708			C2H2-type 15.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.2123G>A	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067645	0.55539	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.01221	5.15;5.15;5.15	4.1	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.185511	0.27223	N	0.020348	T	0.03053	0.0090	L	0.46885	1.475	0.34510	D	0.707041	D	0.63880	0.993	P	0.52598	0.703	T	0.49881	-0.8892	10	0.66056	D	0.02	-8.9771	10.3529	0.43948	0.099:0.0:0.901:0.0	.	708	Q8WTR7	ZN473_HUMAN	E	708;708;696	ENSP00000270617:G708E;ENSP00000375697:G708E;ENSP00000388961:G696E	ENSP00000270617:G708E	G	+	2	0	ZNF473	55241635	1.000000	0.71417	0.652000	0.29579	0.455000	0.32408	6.448000	0.73469	1.316000	0.45131	0.609000	0.83330	GGG		0.483	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		16	72	0	0	0	0.004007	0	16	72				
MYBPC2	4606	broad.mit.edu	37	19	50945490	50945490	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:50945490C>A	ENST00000357701.5	+	9	873	c.822C>A	c.(820-822)atC>atA	p.I274I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	274	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.I274I(2)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCAACAAGATCAAGTTGATGG	0.522																																							uc002psf.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(820-822)ATC>ATA		myosin binding protein C, fast type							74.0	77.0	76.0					19																	50945490		2043	4188	6231	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50945490C>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.822C>A	19.37:g.50945490C>A							p.I274I	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	9	873	+		all_neural(266;0.057)	274			Ig-like C2-type 2.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.822C>A	CCDS46152.1																																																																																				0.522	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	7	1	0	4.096e-09	0.001168	4.96443e-09	5	7				
CD33	945	broad.mit.edu	37	19	51738435	51738435	+	Missense_Mutation	SNP	G	G	T	rs1051198		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51738435G>T	ENST00000262262.4	+	5	790	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	CD33_ENST00000436584.2_Missense_Mutation_p.V130L|CD33_ENST00000421133.2_Missense_Mutation_p.V130L|CD33_ENST00000391796.3_Missense_Mutation_p.V257L	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	257					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.V257L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGAGCAGGAGTGGTTCATGG	0.483																																							uc002pwa.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(769-771)GTG>TTG		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						129.0	111.0	117.0					19																	51738435		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51738435G>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.769G>T	19.37:g.51738435G>T	ENSP00000262262:p.Val257Leu					CD33_uc010eos.1_Missense_Mutation_p.V257L|CD33_uc010eot.1_Missense_Mutation_p.V130L|CD33_uc010eou.1_RNA	p.V257L	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	5	809	+		all_neural(266;0.0199)	257			Extracellular (Potential).		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.769G>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	8.544	0.873857	0.17395	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.39406	1.08;3.69;3.69;2.13	4.24	-3.08	0.05347	.	2.313430	0.03079	N	0.158248	T	0.33933	0.0880	L	0.55834	1.745	0.09310	N	1	B;P;B	0.41784	0.033;0.762;0.033	B;B;B	0.39379	0.013;0.298;0.022	T	0.27536	-1.0071	10	0.21540	T	0.41	.	4.2111	0.10512	0.5077:0.0:0.3227:0.1696	.	130;257;257	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	L	130;257;130;257	ENSP00000403331:V130L;ENSP00000262262:V257L;ENSP00000410126:V130L;ENSP00000375673:V257L	ENSP00000262262:V257L	V	+	1	0	CD33	56430247	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.238000	0.18004	-0.295000	0.08960	-0.251000	0.11542	GTG		0.483	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		17	40	1	0	3.51602e-12	0.008871	4.45874e-12	17	40				
CD33	945	broad.mit.edu	37	19	51742776	51742776	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51742776C>A	ENST00000262262.4	+	7	949	c.928C>A	c.(928-930)Cac>Aac	p.H310N	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.H183N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	310					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.H310N(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCATAAGAAACACCAGAAGAA	0.512																																							uc002pwa.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(928-930)CAC>AAC		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						88.0	84.0	85.0					19																	51742776		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51742776C>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.928C>A	19.37:g.51742776C>A	ENSP00000262262:p.His310Asn					CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.H183N|CD33_uc010eou.1_RNA	p.H310N	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	7	968	+		all_neural(266;0.0199)	310			Cytoplasmic (Potential).		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.928C>A	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672193	0.29693	.	.	ENSG00000105383	ENST00000262262;ENST00000421133	T;T	0.32272	2.48;1.46	1.83	-3.67	0.04476	.	.	.	.	.	T	0.16385	0.0394	L	0.38175	1.15	0.09310	N	1	P;P	0.42827	0.791;0.48	B;B	0.38755	0.281;0.173	T	0.12553	-1.0543	9	0.23891	T	0.37	.	2.2718	0.04093	0.4173:0.267:0.0:0.3157	.	183;310	C9JEN7;P20138	.;CD33_HUMAN	N	310;183	ENSP00000262262:H310N;ENSP00000410126:H183N	ENSP00000262262:H310N	H	+	1	0	CD33	56434588	0.000000	0.05858	0.000000	0.03702	0.349000	0.29174	0.058000	0.14301	-0.994000	0.03463	0.313000	0.20887	CAC		0.512	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		11	16	1	0	3.86212e-05	0.008291	4.21639e-05	11	16				
SIGLEC12	89858	broad.mit.edu	37	19	51994903	51994903	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:51994903G>T	ENST00000291707.3	-	8	1835	c.1780C>A	c.(1780-1782)Ccc>Acc	p.P594T	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P476T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	594					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P594T(2)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCTCACTTGGGGATGTTGATC	0.532																																							uc002pwx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(1780-1782)CCC>ACC		sialic acid binding immunoglobulin-like							121.0	105.0	111.0					19																	51994903		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:51994903G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1780C>A	19.37:g.51994903G>T	ENSP00000291707:p.Pro594Thr					SIGLEC12_uc002pww.1_Missense_Mutation_p.P476T|SIGLEC12_uc010eoy.1_Missense_Mutation_p.P321T	p.P594T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1836	-		all_neural(266;0.0199)	594			Cytoplasmic (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1780C>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	1.683	-0.506082	0.04231	.	.	ENSG00000254521	ENST00000291707	T	0.38077	1.16	2.79	-5.58	0.02512	.	.	.	.	.	T	0.17577	0.0422	L	0.29908	0.895	0.09310	N	1	B;P	0.47106	0.041;0.89	B;B	0.40940	0.018;0.344	T	0.11397	-1.0589	9	0.25106	T	0.35	.	1.2919	0.02062	0.4745:0.1596:0.2047:0.1612	.	594;476	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	T	594	ENSP00000291707:P594T	ENSP00000291707:P594T	P	-	1	0	SIGLEC12	56686715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.743000	0.04845	-1.138000	0.02884	-0.259000	0.10710	CCC		0.532	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		39	72	1	0	9.39024e-22	0.009718	1.27546e-21	39	72				
SIGLEC14	100049587	broad.mit.edu	37	19	52147285	52147285	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52147285C>A	ENST00000360844.6	-	5	800	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	253	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L246L(2)|p.L253L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCAGGATCCGCAGGGCTGGGA	0.592																																							uc002pxf.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(757-759)CTG>CTT		sialic acid binding Ig-like lectin 14 precursor							21.0	25.0	24.0					19																	52147285		1936	4082	6018	SO:0001819	synonymous_variant	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147285C>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.759G>T	19.37:g.52147285C>A							p.L253L	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	879	-		all_neural(266;0.0299)	253			Extracellular (Potential).|Ig-like C2-type 2.		Q6UXG0	Silent	SNP	ENST00000360844.6	37	c.759G>T	CCDS42604.1																																																																																				0.592	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		7	12	1	0	0.00198382	0.001984	0.00206488	7	12				
FPR2	2358	broad.mit.edu	37	19	52272003	52272003	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52272003T>A	ENST00000598776.1	+	2	864	c.92T>A	c.(91-93)gTg>gAg	p.V31E	FPR2_ENST00000598953.1_Missense_Mutation_p.V31E|FPR2_ENST00000340023.6_Missense_Mutation_p.V31E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	31					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.V31E(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCCCATTGGTGGTGCTTGGG	0.537																																							uc002pxr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(91-93)GTG>GAG		formyl peptide receptor-like 1							185.0	152.0	163.0					19																	52272003		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272003T>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.92T>A	19.37:g.52272003T>A	ENSP00000468897:p.Val31Glu					FPR2_uc002pxs.3_Missense_Mutation_p.V31E|FPR2_uc010epf.2_Missense_Mutation_p.V31E	p.V31E	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	137	+			31			Helical; Name=1; (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.92T>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	18.78	3.696059	0.68386	.	.	ENSG00000171049	ENST00000340023	T	0.42513	0.97	2.98	1.95	0.26073	.	0.459089	0.18440	U	0.141163	T	0.29355	0.0731	N	0.08118	0	0.28763	N	0.900805	P	0.45902	0.868	P	0.50896	0.653	T	0.11470	-1.0586	10	0.87932	D	0	.	6.4336	0.21811	0.0:0.1297:0.0:0.8703	.	31	P25090	FPR2_HUMAN	E	31	ENSP00000340191:V31E	ENSP00000340191:V31E	V	+	2	0	FPR2	56963815	1.000000	0.71417	0.022000	0.16811	0.507000	0.33981	4.654000	0.61469	0.544000	0.28883	0.402000	0.26972	GTG		0.537	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		15	82	0	0	0	0.003163	0	15	82				
FPR2	2358	broad.mit.edu	37	19	52272902	52272902	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52272902C>A	ENST00000598776.1	+	2	1763	c.991C>A	c.(991-993)Cca>Aca	p.P331T	FPR2_ENST00000598953.1_Missense_Mutation_p.P331T|FPR2_ENST00000340023.6_Missense_Mutation_p.P331T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	331					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.P331T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGACTCAGCCCCAACTAATGA	0.537																																							uc002pxr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(991-993)CCA>ACA		formyl peptide receptor-like 1							70.0	66.0	67.0					19																	52272902		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272902C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.991C>A	19.37:g.52272902C>A	ENSP00000468897:p.Pro331Thr					FPR2_uc002pxs.3_Missense_Mutation_p.P331T|FPR2_uc010epf.2_Missense_Mutation_p.P331T	p.P331T	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	1036	+			331			Cytoplasmic (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.991C>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	1.896	-0.454355	0.04540	.	.	ENSG00000171049	ENST00000340023	T	0.36699	1.24	4.49	3.36	0.38483	.	1.078530	0.07198	U	0.856927	T	0.22627	0.0546	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13710	-1.0499	10	0.17369	T	0.5	.	7.2113	0.25935	0.1907:0.6241:0.1852:0.0	.	331	P25090	FPR2_HUMAN	T	331	ENSP00000340191:P331T	ENSP00000340191:P331T	P	+	1	0	FPR2	56964714	0.041000	0.20044	0.008000	0.14137	0.041000	0.13682	1.838000	0.39211	2.226000	0.72624	0.484000	0.47621	CCA		0.537	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		7	42	1	0	0.000157383	0.00308	0.0001694	7	42				
FPR3	2359	broad.mit.edu	37	19	52327146	52327146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52327146T>A	ENST00000339223.4	+	2	324	c.145T>A	c.(145-147)Tgg>Agg	p.W49R	FPR3_ENST00000595991.1_Missense_Mutation_p.W49R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	49					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.W49R(2)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTTGTGATCTGGGTGGCTGG	0.552																																							uc002pxt.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|breast(1)|skin(1)	6						c.(145-147)TGG>AGG		formyl peptide receptor-like 2							183.0	142.0	156.0					19																	52327146		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327146T>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.145T>A	19.37:g.52327146T>A	ENSP00000341821:p.Trp49Arg						p.W49R	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	329	+			49			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000339223.4	37	c.145T>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107244	0.37145	.	.	ENSG00000187474	ENST00000339223	T	0.38560	1.13	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.68787	0.3039	H	0.94734	3.575	0.35766	D	0.820547	D	0.89917	1.0	D	0.91635	0.999	T	0.77270	-0.2650	10	0.87932	D	0	.	7.9475	0.29995	0.0:0.0:0.0:1.0	.	49	P25089	FPR3_HUMAN	R	49	ENSP00000341821:W49R	ENSP00000341821:W49R	W	+	1	0	FPR3	57018958	1.000000	0.71417	0.998000	0.56505	0.114000	0.19823	3.992000	0.56980	1.008000	0.39264	0.383000	0.25322	TGG		0.552	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		40	53	0	0	0	0.009718	0	40	53				
ZNF649	65251	broad.mit.edu	37	19	52394608	52394608	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52394608G>C	ENST00000354957.3	-	5	1065	c.781C>G	c.(781-783)Cca>Gca	p.P261A	ZNF649_ENST00000600738.1_Missense_Mutation_p.P233A|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P261A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CACCCGTATGGTTTCTCTCCT	0.502																																							uc002pxy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(781-783)CCA>GCA		zinc finger protein 649							121.0	121.0	121.0					19																	52394608		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394608G>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.781C>G	19.37:g.52394608G>C	ENSP00000347043:p.Pro261Ala					ZNF577_uc010ydf.1_5'Flank	p.P261A	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1049	-		all_neural(266;0.0602)	261					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.781C>G	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243398	0.22796	.	.	ENSG00000198093	ENST00000354957	T	0.16457	2.34	2.52	1.43	0.22495	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39172	0.1068	M	0.81497	2.545	0.22656	N	0.998887	D	0.61697	0.99	D	0.65684	0.937	T	0.13791	-1.0496	9	0.87932	D	0	.	9.7769	0.40626	0.0:0.2139:0.7861:0.0	.	261	Q9BS31	ZN649_HUMAN	A	261	ENSP00000347043:P261A	ENSP00000347043:P261A	P	-	1	0	ZNF649	57086420	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	2.189000	0.42621	0.251000	0.21505	0.404000	0.27445	CCA		0.502	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		18	65	0	0	0	0.006122	0	18	65				
PPP2R1A	5518	broad.mit.edu	37	19	52719320	52719320	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:52719320G>T	ENST00000322088.6	+	8	1044	c.986G>T	c.(985-987)tGc>tTc	p.C329F	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.C150F|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.C274F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	329	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.C329F(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATCTTGCCCTGCATCAAGGTA	0.532			Mis		clear cell ovarian carcinoma																																		uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		2	Substitution - Missense(2)		lung(2)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(985-987)TGC>TTC		alpha isoform of regulatory subunit A, protein							72.0	65.0	67.0					19																	52719320		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719320G>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.986G>T	19.37:g.52719320G>T	ENSP00000324804:p.Cys329Phe					PPP2R1A_uc010ydk.1_Missense_Mutation_p.C274F|PPP2R1A_uc010epm.1_Missense_Mutation_p.C369F|PPP2R1A_uc002pyq.2_Missense_Mutation_p.C150F	p.C329F	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	8	1145	+			329			PP2A subunit B binding.|HEAT 9.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.986G>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036098	0.54896	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.31769	1.48;1.48	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.079585	0.52532	N	0.000063	T	0.31104	0.0786	L	0.53617	1.68	0.80722	D	1	B;B;B	0.17268	0.021;0.007;0.007	B;B;B	0.19148	0.024;0.007;0.007	T	0.06807	-1.0806	10	0.36615	T	0.2	-13.3467	15.2851	0.73822	0.0:0.0:1.0:0.0	.	274;329;329	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	F	319;249;329;274	ENSP00000324804:C329F;ENSP00000415067:C274F	ENSP00000324804:C329F	C	+	2	0	PPP2R1A	57411132	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.619000	0.90938	2.547000	0.85894	0.655000	0.94253	TGC		0.532	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		10	34	1	0	0.000673444	0.008291	0.000711157	10	34				
ZNF611	81856	broad.mit.edu	37	19	53209968	53209968	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:53209968C>G	ENST00000319783.1	-	7	656	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	ZNF611_ENST00000540744.1_Missense_Mutation_p.E114Q|ZNF611_ENST00000453741.2_Missense_Mutation_p.E45Q|ZNF611_ENST00000543227.1_Missense_Mutation_p.E114Q|ZNF611_ENST00000600943.1_3'UTR|ZNF611_ENST00000602162.1_Missense_Mutation_p.E45Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E45Q|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CACTGAAACTCAATGTCATGA	0.393																																							uc002pzz.2		NA																	0				ovary(1)	1						c.(340-342)GAG>CAG		zinc finger protein 611 isoform a							178.0	180.0	179.0					19																	53209968		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209968C>G	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.340G>C	19.37:g.53209968C>G	ENSP00000322427:p.Glu114Gln					ZNF611_uc010eqc.2_Missense_Mutation_p.E44Q|ZNF611_uc010ydo.1_Missense_Mutation_p.E44Q|ZNF611_uc010ydr.1_Missense_Mutation_p.E45Q|ZNF611_uc010ydp.1_Missense_Mutation_p.E114Q|ZNF611_uc010ydq.1_Missense_Mutation_p.E114Q|ZNF611_uc002qaa.3_Missense_Mutation_p.E44Q	p.E114Q	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	657	-			114					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.340G>C	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	6.987	0.552178	0.13374	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.09630	3.02;3.02;2.96;3.02	0.958	0.958	0.19619	.	.	.	.	.	T	0.09905	0.0243	L	0.58810	1.83	0.09310	N	1	B	0.26400	0.148	B	0.24155	0.051	T	0.29518	-1.0009	9	0.32370	T	0.25	.	4.2065	0.10491	0.3978:0.6021:0.0:0.0	.	114	Q8N823	ZN611_HUMAN	Q	114;114;45;114	ENSP00000437616:E114Q;ENSP00000439211:E114Q;ENSP00000443505:E45Q;ENSP00000322427:E114Q	ENSP00000322427:E114Q	E	-	1	0	ZNF611	57901780	0.000000	0.05858	0.255000	0.24374	0.092000	0.18411	-0.096000	0.11059	0.830000	0.34757	0.306000	0.20318	GAG		0.393	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		5	176	0	0	0	0.001168	0	5	176				
ZNF160	90338	broad.mit.edu	37	19	53572843	53572843	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:53572843C>A	ENST00000429604.1	-	7	1359	c.944G>T	c.(943-945)tGt>tTt	p.C315F	ZNF160_ENST00000601421.1_Missense_Mutation_p.C279F|ZNF160_ENST00000599056.1_Missense_Mutation_p.C315F|ZNF160_ENST00000418871.1_Missense_Mutation_p.C315F	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	315					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C315F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTCATGACATTTGTAAGG	0.413																																							uc010eqk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(943-945)TGT>TTT		zinc finger protein 160							121.0	114.0	116.0					19																	53572843		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572843C>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.944G>T	19.37:g.53572843C>A	ENSP00000406201:p.Cys315Phe					ZNF160_uc002qaq.3_Missense_Mutation_p.C315F|ZNF160_uc002qar.3_Missense_Mutation_p.C315F	p.C315F	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	1360	-			315			C2H2-type 3.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.944G>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243800	0.39697	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	D;D	0.85088	-1.94;-1.94	2.47	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93638	0.7968	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91853	0.5493	9	0.87932	D	0	.	7.944	0.29976	0.0:0.8643:0.0:0.1357	.	315	Q9HCG1	ZN160_HUMAN	F	315	ENSP00000406201:C315F;ENSP00000409597:C315F	ENSP00000409597:C315F	C	-	2	0	ZNF160	58264655	0.995000	0.38212	0.046000	0.18839	0.750000	0.42670	4.669000	0.61575	0.348000	0.23949	0.561000	0.74099	TGT		0.413	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		13	85	1	0	4.3838e-07	0.001855	5.08003e-07	13	85				
PRKCG	5582	broad.mit.edu	37	19	54403931	54403931	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:54403931G>T	ENST00000263431.3	+	14	1785	c.1503G>T	c.(1501-1503)atG>atT	p.M501I	PRKCG_ENST00000542049.1_Missense_Mutation_p.M388I|PRKCG_ENST00000540413.1_Missense_Mutation_p.M501I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	501	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.M501I(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACTTTGGCATGTGTAAGGAGA	0.587																																							uc002qcq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1501-1503)ATG>ATT		protein kinase C, gamma							236.0	226.0	229.0					19																	54403931		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403931G>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1503G>T	19.37:g.54403931G>T	ENSP00000263431:p.Met501Ile					PRKCG_uc010yeg.1_Missense_Mutation_p.M501I|PRKCG_uc010yeh.1_Missense_Mutation_p.M388I	p.M501I	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	14	1785	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		501			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1503G>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483851	0.84854	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.63417	-0.04;-0.04;-0.04	4.24	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.52075	0.1712	N	0.01352	-0.895	0.58432	D	0.999999	P;D;D	0.67145	0.925;0.996;0.958	D;P;P	0.65140	0.932;0.901;0.821	T	0.70706	-0.4798	9	0.87932	D	0	.	14.5204	0.67847	0.0:0.0:1.0:0.0	.	388;501;501	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	I	501;501;388	ENSP00000443493:M501I;ENSP00000263431:M501I;ENSP00000438090:M388I	ENSP00000263431:M501I	M	+	3	0	PRKCG	59095743	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.617000	0.98361	2.088000	0.63022	0.462000	0.41574	ATG		0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		124	255	1	0	1.03055e-72	0.01441	1.45419e-72	124	255				
LENG8	114823	broad.mit.edu	37	19	54967885	54967885	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:54967885G>A	ENST00000326764.5	+	11	1995	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	469										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCCGGAGCGAGAGCTGAAGAA	0.667																																							uc002qfv.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1405-1407)GAG>AAG		RecName: Full=Leukocyte receptor cluster member 8;							25.0	30.0	28.0					19																	54967885		2199	4299	6498	SO:0001583	missense	114823						protein binding	g.chr19:54967885G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1516G>A	19.37:g.54967885G>A	ENSP00000318374:p.Glu506Lys					LENG8_uc002qfw.2_Missense_Mutation_p.E506K	p.E469K			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	10	1549	+	Ovarian(34;0.19)		469					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1405G>A	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236691	0.58886	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.35048	1.38;1.35;1.33	4.11	4.11	0.48088	.	0.174893	0.48286	D	0.000182	T	0.28167	0.0695	L	0.32530	0.975	0.80722	D	1	P;P	0.39624	0.681;0.669	B;B	0.37833	0.202;0.259	T	0.05500	-1.0881	10	0.27785	T	0.31	-31.0236	14.6356	0.68686	0.0:0.0:1.0:0.0	.	506;469	Q96PV6-2;F8W9Q9	.;.	K	506;469;469;506	ENSP00000318374:E506K;ENSP00000365709:E469K;ENSP00000388053:E506K	ENSP00000301196:E469K	E	+	1	0	LENG8	59659697	1.000000	0.71417	0.910000	0.35882	0.489000	0.33432	8.201000	0.89735	2.239000	0.73571	0.462000	0.41574	GAG		0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		5	23	0	0	0	0.001168	0	5	23				
DNAAF3	352909	broad.mit.edu	37	19	55670723	55670723	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55670723C>A	ENST00000524407.2	-	12	1366	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	DNAAF3_ENST00000527223.2_Missense_Mutation_p.A512S|TNNI3_ENST00000344887.5_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A492S|TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G106V|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A391S			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	445					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.A492S(1)									GAAGGCCTGGCCCCGGTCTGT	0.617																																							uc002qji.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1333-1335)GCC>TCC		RecName: Full=UPF0470 protein C19orf51;																																				SO:0001583	missense	352909							g.chr19:55670723C>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1333G>T	19.37:g.55670723C>A	ENSP00000432046:p.Ala445Ser					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.A260S|C19orf51_uc002qjj.1_Missense_Mutation_p.A492S|C19orf51_uc002qjk.1_Missense_Mutation_p.A391S|C19orf51_uc002qjl.1_Missense_Mutation_p.A512S	p.A445S			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1367	-			445					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1333G>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	c	6.970	0.548859	0.13312	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.17854	2.26;2.25	3.65	-1.12	0.09808	.	0.974043	0.08394	N	0.952407	T	0.11580	0.0282	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.22683	0.073;0.058;0.073;0.073	B;B;B;B	0.25291	0.059;0.04;0.059;0.037	T	0.43228	-0.9404	10	0.09338	T	0.73	-5.1432	7.405	0.26985	0.0:0.5207:0.0:0.4793	.	512;391;465;445	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	S	512;391;492	ENSP00000394343:A391S;ENSP00000375600:A492S	ENSP00000301249:A512S	A	-	1	0	C19orf51	60362535	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.085000	0.11250	-0.113000	0.11958	-0.376000	0.06991	GCC		0.617	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		10	91	1	0	4.68919e-08	0.008291	5.56267e-08	10	91				
ZNF628	89887	broad.mit.edu	37	19	55993190	55993190	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:55993190C>T	ENST00000598519.1	+	3	1183	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF628_ENST00000391718.2_Silent_p.P206P			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	210					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)	p.P206P(4)		endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CGCTCTGCCCCAAGACCTTCA	0.741																																							uc002qld.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(616-618)CCC>CCT		zinc finger protein 628							14.0	15.0	15.0					19																	55993190		2196	4273	6469	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55993190C>T	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.630C>T	19.37:g.55993190C>T							p.P206P	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1183	+	Breast(117;0.155)		206			C2H2-type 7.		Q86X34	Silent	SNP	ENST00000598519.1	37	c.618C>T	CCDS33116.3																																																																																				0.741	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		5	7	0	0	0	0.000602	0	5	7				
NLRP4	147945	broad.mit.edu	37	19	56382250	56382250	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:56382250G>A	ENST00000301295.6	+	7	2834	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	NLRP4_ENST00000587891.1_Silent_p.L729L|NLRP4_ENST00000346986.5_Silent_p.L748L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	804					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L804L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAATGCTTCTGCGTAACAAGA	0.527																																							uc002qmd.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2410-2412)CTG>CTA		NLR family, pyrin domain containing 4							173.0	144.0	154.0					19																	56382250		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56382250G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2412G>A	19.37:g.56382250G>A						NLRP4_uc002qmf.2_Silent_p.L729L|NLRP4_uc010etf.2_Silent_p.L579L	p.L804L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2834	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	804					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2412G>A	CCDS12936.1																																																																																				0.527	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		16	54	0	0	0	0.004007	0	16	54				
NLRP5	126206	broad.mit.edu	37	19	56544115	56544115	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:56544115G>C	ENST00000390649.3	+	8	2415	c.2415G>C	c.(2413-2415)ctG>ctC	p.L805L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	805					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.L805L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGCCAAGCTGAGGCATCCCA	0.607																																							uc002qmj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2413-2415)CTG>CTC		NACHT, LRR and PYD containing protein 5							118.0	124.0	122.0					19																	56544115		2087	4230	6317	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56544115G>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2415G>C	19.37:g.56544115G>C						NLRP5_uc002qmi.2_Silent_p.L786L	p.L805L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	8	2415	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	805					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2415G>C	CCDS12938.1																																																																																				0.607	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		21	106	0	0	0	0.012319	0	21	106				
ZIM3	114026	broad.mit.edu	37	19	57649865	57649865	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57649865C>G	ENST00000269834.1	-	3	502	c.117G>C	c.(115-117)gaG>gaC	p.E39D		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E39D(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTGTAATTCTCCAGCATCA	0.547																																							uc002qnz.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(115-117)GAG>GAC		zinc finger, imprinted 3							116.0	99.0	105.0					19																	57649865		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57649865C>G	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.117G>C	19.37:g.57649865C>G	ENSP00000269834:p.Glu39Asp						p.E39D	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	503	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	39			KRAB.		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.117G>C	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831736	0.32421	.	.	ENSG00000141946	ENST00000269834	T	0.03920	3.76	3.07	2.02	0.26589	Krueppel-associated box (4);	.	.	.	.	T	0.07279	0.0184	M	0.73430	2.235	0.22954	N	0.998519	B	0.31009	0.303	B	0.31245	0.126	T	0.30446	-0.9978	9	0.66056	D	0.02	.	4.0472	0.09778	0.0:0.607:0.248:0.1449	.	39	Q96PE6	ZIM3_HUMAN	D	39	ENSP00000269834:E39D	ENSP00000269834:E39D	E	-	3	2	ZIM3	62341677	0.584000	0.26766	0.231000	0.23993	0.260000	0.26232	0.793000	0.26944	0.486000	0.27676	0.205000	0.17691	GAG		0.547	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			17	72	0	0	0	0.004007	0	17	72				
AURKC	6795	broad.mit.edu	37	19	57744834	57744834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57744834G>T	ENST00000302804.7	+	5	628	c.442G>T	c.(442-444)Gag>Tag	p.E148*	AURKC_ENST00000415300.2_Nonsense_Mutation_p.E129*|AURKC_ENST00000448930.1_Nonsense_Mutation_p.E114*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.E145*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.E114*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> Q (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E114*(1)|p.E148*(1)|p.E114Q(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACAGATAATAGAGGAGTTGGC	0.478																																							uc002qoe.2		NA																	3	Substitution - Nonsense(2)|Substitution - Missense(1)	p.E114Q(1)	lung(3)	lung(4)|ovary(2)	6						c.(442-444)GAG>TAG		aurora kinase C isoform 1							98.0	96.0	97.0					19																	57744834		2203	4300	6503	SO:0001587	stop_gained	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57744834G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.442G>T	19.37:g.57744834G>T	ENSP00000302898:p.Glu148*					AURKC_uc002qoc.2_Nonsense_Mutation_p.E129*|AURKC_uc002qod.2_Nonsense_Mutation_p.E114*|AURKC_uc010etv.2_Nonsense_Mutation_p.E145*	p.E148*	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	5	631	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	148		E -> Q (in a lung squamous cell carcinoma sample; somatic mutation).	Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Nonsense_Mutation	SNP	ENST00000302804.7	37	c.442G>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	36	5.829037	0.96996	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	.	.	.	3.67	2.61	0.31194	.	0.050269	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-32.584	11.5835	0.50904	0.0:0.1816:0.8184:0.0	.	.	.	.	X	129;114;148	.	ENSP00000302898:E148X	E	+	1	0	AURKC	62436646	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.741000	0.47426	1.107000	0.41642	0.462000	0.41574	GAG		0.478	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		17	76	1	0	1.15088e-07	0.004007	1.34873e-07	17	76				
ZNF548	147694	broad.mit.edu	37	19	57910783	57910783	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:57910783C>G	ENST00000366197.5	+	3	1378	c.1128C>G	c.(1126-1128)taC>taG	p.Y376*	AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.Y388*|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y388*(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTTAGGTACAACTCCAGCC	0.403																																							uc002qom.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(1126-1128)TAC>TAG		zinc finger protein 548							58.0	58.0	58.0					19																	57910783		2202	4298	6500	SO:0001587	stop_gained	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910783C>G	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1128C>G	19.37:g.57910783C>G	ENSP00000379482:p.Tyr376*					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Nonsense_Mutation_p.Y379*	p.Y376*	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1378	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	376			C2H2-type 7.		Q96M05	Nonsense_Mutation	SNP	ENST00000366197.5	37	c.1128C>G	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244892	0.95272	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	.	.	.	2.76	-2.58	0.06228	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6273	0.00788	0.1758:0.2013:0.3081:0.3147	.	.	.	.	X	388;376	.	ENSP00000337555:Y388X	Y	+	3	2	ZNF548	62602595	0.000000	0.05858	0.000000	0.03702	0.988000	0.76386	-4.002000	0.00316	-0.284000	0.09102	-0.253000	0.11424	TAC		0.403	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		4	19	0	0	0	0.009096	0	4	19				
ZNF416	55659	broad.mit.edu	37	19	58087249	58087249	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58087249C>A	ENST00000196489.3	-	3	347	c.125G>T	c.(124-126)tGg>tTg	p.W42L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W42L(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGAGCCCCCATTCTTCCTG	0.537																																							uc002qpf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(124-126)TGG>TTG		zinc finger protein 416							188.0	167.0	174.0					19																	58087249		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58087249C>A	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.125G>T	19.37:g.58087249C>A	ENSP00000196489:p.Trp42Leu					ZNF547_uc002qpm.3_Intron	p.W42L	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	296	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	42			KRAB.		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.125G>T	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836760	0.71373	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.09630	2.96	3.66	3.66	0.41972	Krueppel-associated box (4);	.	.	.	.	T	0.45577	0.1349	H	0.96805	3.885	0.39434	D	0.967131	D	0.89917	1.0	D	0.91635	0.999	T	0.65055	-0.6261	9	0.87932	D	0	.	12.7594	0.57354	0.0:1.0:0.0:0.0	.	42	Q9BWM5	ZN416_HUMAN	L	42;28;22	ENSP00000196489:W42L	ENSP00000196489:W42L	W	-	2	0	ZNF416	62779061	0.977000	0.34250	0.957000	0.39632	0.997000	0.91878	2.537000	0.45702	2.044000	0.60594	0.655000	0.94253	TGG		0.537	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		42	78	1	0	2.19962e-31	0.00874	3.07397e-31	42	78				
ZSCAN18	65982	broad.mit.edu	37	19	58598331	58598331	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58598331C>A	ENST00000240727.6	-	5	1086	c.687G>T	c.(685-687)tgG>tgT	p.W229C	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.W94C|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.W229C|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.W285C	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	229					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.W285C(1)|p.W229C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGGTGGCCCCACTCCCCCA	0.637																																							uc002qri.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(685-687)TGG>TGT		zinc finger and SCAN domain containing 18							61.0	56.0	58.0					19																	58598331		2203	4300	6503	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58598331C>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.687G>T	19.37:g.58598331C>A	ENSP00000240727:p.Trp229Cys					ZSCAN18_uc002qrj.3_Missense_Mutation_p.W229C|ZSCAN18_uc010yhs.1_Missense_Mutation_p.W94C|ZSCAN18_uc002qrh.2_Missense_Mutation_p.W229C|ZSCAN18_uc010yht.1_Missense_Mutation_p.W285C|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	p.W229C	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	996	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	229					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.687G>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608470	0.46527	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.37752	1.18;2.34	3.06	3.06	0.35304	.	0.000000	0.33895	N	0.004458	T	0.41926	0.1180	N	0.24115	0.695	0.50171	D	0.999857	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.996	T	0.38222	-0.9671	10	0.72032	D	0.01	-15.0931	9.828	0.40923	0.0:1.0:0.0:0.0	.	285;94;229;229	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	C	285;229;94	ENSP00000240727:W229C;ENSP00000392653:W94C	ENSP00000240727:W229C	W	-	3	0	ZSCAN18	63290143	0.316000	0.24580	0.822000	0.32727	0.844000	0.47949	1.316000	0.33620	2.004000	0.58718	0.561000	0.74099	TGG		0.637	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		17	57	1	0	2.35188e-11	0.006122	2.94391e-11	17	57				
TMEM18	129787	broad.mit.edu	37	2	669766	669766	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:669766C>G	ENST00000281017.3	-	4	411	c.318G>C	c.(316-318)atG>atC	p.M106I	TMEM18_ENST00000405941.3_Missense_Mutation_p.M109I|TMEM18_ENST00000355654.2_Missense_Mutation_p.M93I	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	106					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)	p.M106I(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CCACAATGATCATGGCATTCA	0.358																																							uc002qwl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(316-318)ATG>ATC		transmembrane protein 18							100.0	100.0	100.0					2																	669766		2203	4300	6503	SO:0001583	missense	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:669766C>G	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.318G>C	2.37:g.669766C>G	ENSP00000281017:p.Met106Ile					TMEM18_uc002qwk.2_RNA	p.M106I	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	4	412	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	106			Helical; (Potential).		D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	ENST00000281017.3	37	c.318G>C	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	C	3.699	-0.061964	0.07317	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.7	5.7	0.88788	.	0.379178	0.36200	N	0.002731	T	0.44030	0.1274	N	0.21282	0.65	0.40395	D	0.979589	B	0.13594	0.008	B	0.08055	0.003	T	0.29731	-1.0002	9	0.24483	T	0.36	-16.446	15.4029	0.74855	0.0:1.0:0.0:0.0	.	106	Q96B42	TMM18_HUMAN	I	106;93;109	.	ENSP00000281017:M106I	M	-	3	0	TMEM18	659766	0.969000	0.33509	0.983000	0.44433	0.141000	0.21300	0.001000	0.13038	2.705000	0.92388	0.549000	0.68633	ATG		0.358	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834		14	26	0	0	0	0.00245	0	14	26				
TPO	7173	broad.mit.edu	37	2	1418261	1418261	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:1418261A>G	ENST00000345913.4	+	2	172	c.81A>G	c.(79-81)aaA>aaG	p.K27K	TPO_ENST00000539820.1_Silent_p.K27K|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.K27K|TPO_ENST00000337415.3_Silent_p.K27K|TPO_ENST00000382201.3_Silent_p.K27K|TPO_ENST00000329066.4_Silent_p.K27K|TPO_ENST00000349624.3_Silent_p.K27K|TPO_ENST00000382269.3_Silent_p.K27K|TPO_ENST00000382198.1_Silent_p.K27K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	27					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.K27K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGAGAGGGAAAGAACTCCTTT	0.458																																							uc002qww.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(79-81)AAA>AAG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)																																			SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1418261A>G		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.81A>G	2.37:g.1418261A>G						TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.K27K|TPO_uc002qwu.2_Silent_p.K27K|TPO_uc002qwr.2_Silent_p.K27K|TPO_uc002qwx.2_Silent_p.K27K|TPO_uc010yio.1_Silent_p.K27K|TPO_uc010yip.1_Silent_p.K27K	p.K27K	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	2	172	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	27			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.81A>G	CCDS1643.1																																																																																				0.458	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		16	16	0	0	0	0.008871	0	16	16				
PXDN	7837	broad.mit.edu	37	2	1639197	1639197	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:1639197T>A	ENST00000252804.4	-	22	4353	c.4303A>T	c.(4303-4305)Acc>Tcc	p.T1435S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1435	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T1435S(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACAAATGGTGCATGCATCT	0.512																																							uc002qxa.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(6)|ovary(2)	8						c.(4303-4305)ACC>TCC		peroxidasin precursor							94.0	101.0	99.0					2																	1639197		1988	4167	6155	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1639197T>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4303A>T	2.37:g.1639197T>A	ENSP00000252804:p.Thr1435Ser						p.T1435S	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	22	4367	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1435			VWFC.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.4303A>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698095	0.30142	.	.	ENSG00000130508	ENST00000252804	T	0.72505	-0.66	5.36	5.36	0.76844	von Willebrand factor, type C (4);	0.109082	0.64402	N	0.000008	T	0.68577	0.3016	L	0.60957	1.885	0.38774	D	0.954605	B	0.18013	0.025	B	0.23150	0.044	T	0.69262	-0.5191	10	0.56958	D	0.05	-44.4289	14.6374	0.68699	0.0:0.0:0.0:1.0	.	1435	Q92626	PXDN_HUMAN	S	1435	ENSP00000252804:T1435S	ENSP00000252804:T1435S	T	-	1	0	PXDN	1618204	1.000000	0.71417	0.827000	0.32855	0.008000	0.06430	3.136000	0.50554	2.153000	0.67306	0.533000	0.62120	ACC		0.512	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		5	4	0	0	0	0.001984	0	5	4				
COLEC11	78989	broad.mit.edu	37	2	3685153	3685153	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:3685153G>T	ENST00000349077.4	+	4	336	c.233G>T	c.(232-234)aGt>aTt	p.S78I	COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Missense_Mutation_p.S52I|COLEC11_ENST00000402794.1_Missense_Mutation_p.S28I|COLEC11_ENST00000236693.7_Missense_Mutation_p.S75I|COLEC11_ENST00000418971.2_Missense_Mutation_p.S92I|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000382062.2_Intron	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	78	Collagen-like.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.S92I(2)|p.S75I(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGAAAGGCAGTGTGGGTCGT	0.512																																							uc002qya.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(232-234)AGT>ATT		collectin sub-family member 11 isoform a							270.0	212.0	232.0					2																	3685153		2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3685153G>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.233G>T	2.37:g.3685153G>T	ENSP00000339168:p.Ser78Ile					COLEC11_uc002qxz.2_Missense_Mutation_p.S75I|COLEC11_uc002qyb.2_Missense_Mutation_p.S54I|COLEC11_uc002qyc.2_Intron|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Missense_Mutation_p.S52I|COLEC11_uc010ewq.2_Missense_Mutation_p.S28I|COLEC11_uc010ewr.2_Intron|COLEC11_uc010ews.2_Intron	p.S78I	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	4	381	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		78			Collagen-like.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.233G>T	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072900	0.36566	.	.	ENSG00000118004	ENST00000236693;ENST00000349077;ENST00000438814;ENST00000418971;ENST00000403096;ENST00000402794	T;D;D;D;D;D	0.86030	2.78;-2.06;-1.65;-2.06;-2.06;-1.8	5.43	1.27	0.21489	.	0.320165	0.37219	N	0.002185	T	0.72285	0.3441	N	0.20357	0.565	0.80722	D	1	B;B;B;B;B	0.17465	0.003;0.001;0.0;0.001;0.022	B;B;B;B;B	0.15052	0.004;0.002;0.002;0.006;0.012	T	0.61456	-0.7059	10	0.37606	T	0.19	-3.3144	10.381	0.44113	0.0722:0.3927:0.5351:0.0	.	28;52;54;78;75	Q9BWP8-6;Q9BWP8-4;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;COL11_HUMAN;.	I	75;78;92;92;52;28	ENSP00000236693:S75I;ENSP00000339168:S78I;ENSP00000393167:S92I;ENSP00000411770:S92I;ENSP00000385130:S52I;ENSP00000384882:S28I	ENSP00000236693:S75I	S	+	2	0	COLEC11	3663028	0.013000	0.17824	0.997000	0.53966	0.993000	0.82548	0.506000	0.22658	0.225000	0.20959	-0.244000	0.11960	AGT		0.512	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		20	27	1	0	1.96292e-10	0.010504	2.40927e-10	20	27				
ALLC	55821	broad.mit.edu	37	2	3726108	3726108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:3726108G>A	ENST00000252505.3	+	4	297	c.135G>A	c.(133-135)tgG>tgA	p.W45*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	64					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.W45*(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTGGGAAATGGATGGATGGCT	0.463										HNSCC(21;0.051)																													uc010ewt.2		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(133-135)TGG>TGA		allantoicase isoform a							115.0	115.0	115.0					2																	3726108		1943	4162	6105	SO:0001587	stop_gained	55821						allantoicase activity	g.chr2:3726108G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.135G>A	2.37:g.3726108G>A	ENSP00000252505:p.Trp45*	HNSCC(21;0.051)					p.W45*	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	4	296	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	64					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Nonsense_Mutation	SNP	ENST00000252505.3	37	c.135G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	37	6.289408	0.97444	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.24	4.35	0.52113	.	0.056031	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3009	13.8673	0.63596	0.0:0.1544:0.8456:0.0	.	.	.	.	X	45	.	ENSP00000252505:W45X	W	+	3	0	ALLC	3703983	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.457000	0.60088	1.298000	0.44778	0.655000	0.94253	TGG		0.463	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			15	9	0	0	0	0.003163	0	15	9				
CMPK2	129607	broad.mit.edu	37	2	7001425	7001425	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:7001425G>C	ENST00000256722.5	-	3	881	c.882C>G	c.(880-882)atC>atG	p.I294M	CMPK2_ENST00000458098.1_Missense_Mutation_p.I294M|CMPK2_ENST00000404168.1_Missense_Mutation_p.I294M|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	294					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.I294M(2)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCATCAAAGATCTTCCTCC	0.448																																							uc002qyo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(880-882)ATC>ATG		UMP-CMP kinase 2 precursor							107.0	101.0	103.0					2																	7001425		1939	4149	6088	SO:0001583	missense	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:7001425G>C		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.882C>G	2.37:g.7001425G>C	ENSP00000256722:p.Ile294Met					CMPK2_uc010yis.1_Missense_Mutation_p.I294M|CMPK2_uc010ewv.2_Missense_Mutation_p.I294M	p.I294M	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			3	991	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		294					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	c.882C>G	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740162	0.49045	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	D;T;T	0.95103	-3.61;0.86;0.86	5.42	3.42	0.39159	.	0.321597	0.34133	N	0.004227	D	0.93032	0.7782	L	0.42245	1.32	0.30230	N	0.795981	D;P	0.55172	0.97;0.934	P;P	0.56042	0.79;0.73	D	0.88646	0.3179	10	0.35671	T	0.21	-14.395	6.3857	0.21559	0.1718:0.0:0.5987:0.2295	.	294;294	Q5EBM0-3;Q5EBM0	.;CMPK2_HUMAN	M	294	ENSP00000396385:I294M;ENSP00000256722:I294M;ENSP00000384915:I294M	ENSP00000256722:I294M	I	-	3	3	CMPK2	6918876	0.985000	0.35326	0.985000	0.45067	0.873000	0.50193	1.187000	0.32090	1.289000	0.44618	-0.251000	0.11542	ATC		0.448	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		7	32	0	0	0	0.001984	0	7	32				
KIDINS220	57498	broad.mit.edu	37	2	8888088	8888088	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:8888088C>G	ENST00000256707.3	-	25	3638	c.3457G>C	c.(3457-3459)Ggc>Cgc	p.G1153R	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1153R|KIDINS220_ENST00000418530.1_Intron|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1153R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1153					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)	p.G1153R(2)		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)					TGGGAGCCGCCAGGGTAATAC	0.403																																							uc002qzc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(3457-3459)GGC>CGC		kinase D-interacting substrate of 220 kDa							120.0	116.0	117.0					2																	8888088		1829	4092	5921	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8888088C>G	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.3457G>C	2.37:g.8888088C>G	ENSP00000256707:p.Gly1153Arg					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron|KIDINS220_uc002qzb.2_Missense_Mutation_p.G26R|KIDINS220_uc002qze.2_3'UTR	p.G1153R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			25	3639	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1153			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.3457G>C	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252690	0.95336	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000473731	T;T;T	0.70282	-0.47;-0.36;-0.36	5.75	5.75	0.90469	.	0.184988	0.49916	D	0.000139	D	0.83115	0.5184	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.97110	0.839;1.0	T	0.82912	-0.0222	10	0.66056	D	0.02	.	20.3046	0.98621	0.0:1.0:0.0:0.0	.	1153;26	Q9ULH0;B4DG84	KDIS_HUMAN;.	R	1153	ENSP00000256707:G1153R;ENSP00000411849:G1153R;ENSP00000418974:G1153R	ENSP00000256707:G1153R	G	-	1	0	KIDINS220	8805539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.180000	0.71981	2.878000	0.98634	0.650000	0.86243	GGC		0.403	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		7	9	0	0	0	0.004482	0	7	9				
ADAM17	6868	broad.mit.edu	37	2	9633917	9633917	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:9633917C>T	ENST00000310823.3	-	16	2134	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	651	Crambin-like.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.R651Q(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATCCCAAAATCGTTCAATTAC	0.378																																							uc002qzu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(1951-1953)CGA>CAA		a disintegrin and metalloprotease domain 17							163.0	151.0	155.0					2																	9633917		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9633917C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1952G>A	2.37:g.9633917C>T	ENSP00000309968:p.Arg651Gln					IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Missense_Mutation_p.R651Q|ADAM17_uc010ewz.2_Intron	p.R651Q	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	16	2135	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		651			Crambin-like.|Extracellular (Potential).		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.1952G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556653	0.96514	.	.	ENSG00000151694	ENST00000310823	T	0.24538	1.85	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.81497	2.545	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.55508	0.777;0.777	T	0.55140	-0.8187	10	0.59425	D	0.04	.	18.8814	0.92357	0.0:1.0:0.0:0.0	.	651;651	B2RNB2;P78536	.;ADA17_HUMAN	Q	651	ENSP00000309968:R651Q	ENSP00000309968:R651Q	R	-	2	0	ADAM17	9551368	1.000000	0.71417	0.937000	0.37676	0.990000	0.78478	7.484000	0.81180	2.444000	0.82710	0.462000	0.41574	CGA		0.378	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			3	21	0	0	0	0.004672	0	3	21				
KCNS3	3790	broad.mit.edu	37	2	18112823	18112823	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:18112823C>A	ENST00000403915.1	+	3	999	c.548C>A	c.(547-549)tCc>tAc	p.S183Y	KCNS3_ENST00000304101.4_Missense_Mutation_p.S183Y|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	183					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.S183Y(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTGCCTGTCCGCTAAGCTT	0.507																																							uc002rcv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(547-549)TCC>TAC		potassium voltage-gated channel							69.0	71.0	70.0					2																	18112823		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112823C>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.548C>A	2.37:g.18112823C>A	ENSP00000385968:p.Ser183Tyr					KCNS3_uc002rcw.2_Missense_Mutation_p.S183Y	p.S183Y	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	999	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		183			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.548C>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847253	0.51164	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97114	-4.25;-4.25	5.77	5.77	0.91146	.	0.439500	0.25872	N	0.027748	D	0.97504	0.9183	L	0.54323	1.7	0.53005	D	0.999964	D	0.61697	0.99	P	0.58577	0.841	D	0.96771	0.9568	10	0.36615	T	0.2	.	19.9911	0.97363	0.0:1.0:0.0:0.0	.	183	Q9BQ31	KCNS3_HUMAN	Y	183	ENSP00000385968:S183Y;ENSP00000305824:S183Y	ENSP00000305824:S183Y	S	+	2	0	KCNS3	17976304	0.995000	0.38212	0.968000	0.41197	0.706000	0.40770	3.243000	0.51392	2.712000	0.92718	0.655000	0.94253	TCC		0.507	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		14	30	1	0	9.31168e-06	0.001855	1.04004e-05	14	30				
SDC1	6382	broad.mit.edu	37	2	20404000	20404000	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:20404000G>A	ENST00000254351.4	-	3	445	c.201C>T	c.(199-201)gaC>gaT	p.D67D	SDC1_ENST00000403076.1_Silent_p.D67D|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_Silent_p.D67D	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	67					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.D67D(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGAGCTGCGTGTCCTTCCAAG	0.637																																							uc002rdo.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(199-201)GAC>GAT		syndecan 1 precursor							92.0	99.0	97.0					2																	20404000		2200	4298	6498	SO:0001819	synonymous_variant	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20404000G>A	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.201C>T	2.37:g.20404000G>A						SDC1_uc002rdp.1_Silent_p.D67D|SDC1_uc010exv.2_Silent_p.D67D|SDC1_uc010exw.1_RNA	p.D67D	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	3	500	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		67			Extracellular (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	c.201C>T	CCDS1697.1																																																																																				0.637	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		97	69	0	0	0	0.01441	0	97	69				
APOB	338	broad.mit.edu	37	2	21234952	21234952	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:21234952T>C	ENST00000233242.1	-	26	4915	c.4788A>G	c.(4786-4788)gcA>gcG	p.A1596A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1596					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)	p.A1596A(2)		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)					AACGCAGCAGTGCATTTTGCT	0.408																																							uc002red.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4786-4788)GCA>GCG		apolipoprotein B precursor	Atorvastatin(DB01076)						103.0	89.0	94.0					2																	21234952		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:21234952T>C	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.4788A>G	2.37:g.21234952T>C							p.A1596A	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4916	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1596					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.4788A>G	CCDS1703.1																																																																																				0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			21	22	0	0	0	0.008871	0	21	22				
APOB	338	broad.mit.edu	37	2	21235014	21235014	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:21235014C>A	ENST00000233242.1	-	26	4853	c.4726G>T	c.(4726-4728)Ggg>Tgg	p.G1576W		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1576					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)	p.G1576W(2)		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)					TTATACTTCCCATTGGTGTCA	0.413																																							uc002red.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4726-4728)GGG>TGG		apolipoprotein B precursor	Atorvastatin(DB01076)						101.0	95.0	97.0					2																	21235014		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.chr2:21235014C>A	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.4726G>T	2.37:g.21235014C>A	ENSP00000233242:p.Gly1576Trp						p.G1576W	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4854	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1576					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4726G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112022	0.56398	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01106	5.33	5.87	4.98	0.66077	.	0.096661	0.45361	N	0.000376	T	0.03178	0.0093	L	0.56769	1.78	0.80722	D	1	P	0.43885	0.82	P	0.47044	0.535	T	0.50145	-0.8862	10	0.87932	D	0	.	16.2561	0.82517	0.1336:0.8664:0.0:0.0	.	1576	P04114	APOB_HUMAN	W	1576	ENSP00000233242:G1576W	ENSP00000233242:G1576W	G	-	1	0	APOB	21088519	0.587000	0.26791	0.195000	0.23364	0.833000	0.47200	2.809000	0.47971	1.435000	0.47434	0.650000	0.86243	GGG		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			23	34	1	0	3.85864e-22	0.00278	5.26574e-22	23	34				
NCOA1	8648	broad.mit.edu	37	2	24920559	24920559	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:24920559A>G	ENST00000406961.1	+	11	1493	c.841A>G	c.(841-843)Aga>Gga	p.R281G	NCOA1_ENST00000407230.1_Missense_Mutation_p.R130G|NCOA1_ENST00000538539.1_Missense_Mutation_p.R281G|NCOA1_ENST00000288599.5_Missense_Mutation_p.R281G|NCOA1_ENST00000405141.1_Missense_Mutation_p.R281G|NCOA1_ENST00000395856.3_Missense_Mutation_p.R281G|NCOA1_ENST00000348332.3_Missense_Mutation_p.R281G			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	281					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)	p.R281G(4)	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)					TAGTTCCCTGAGAGCTGCTGG	0.368			T	PAX3	alveolar rhadomyosarcoma																																		uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	4	Substitution - Missense(4)		lung(4)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(841-843)AGA>GGA		nuclear receptor coactivator 1 isoform 1							93.0	89.0	91.0					2																	24920559		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24920559A>G	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.841A>G	2.37:g.24920559A>G	ENSP00000385216:p.Arg281Gly					NCOA1_uc010eye.2_Missense_Mutation_p.R281G|NCOA1_uc002rfi.2_Missense_Mutation_p.R130G|NCOA1_uc002rfj.2_Missense_Mutation_p.R281G|NCOA1_uc002rfl.2_Missense_Mutation_p.R281G	p.R281G	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			9	1099	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		281					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.841A>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378759	0.61735	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.3	4.07	0.47477	.	0.050606	0.85682	D	0.000000	T	0.41834	0.1176	M	0.72118	2.19	0.58432	D	0.999996	D;B;B;D	0.67145	0.996;0.068;0.02;0.991	D;B;B;D	0.69142	0.962;0.132;0.157;0.945	T	0.36359	-0.9751	10	0.87932	D	0	.	10.9678	0.47422	0.7156:0.2844:0.0:0.0	.	281;281;281;130	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	G	281;281;130;281;281;281;281	ENSP00000385216:R281G;ENSP00000385097:R281G;ENSP00000385195:R130G;ENSP00000444039:R281G;ENSP00000320940:R281G;ENSP00000288599:R281G;ENSP00000379197:R281G	ENSP00000288599:R281G	R	+	1	2	NCOA1	24774063	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.785000	0.26830	2.143000	0.66587	0.460000	0.39030	AGA		0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		8	15	0	0	0	0.00308	0	8	15				
GPR113	165082	broad.mit.edu	37	2	26533740	26533740	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:26533740C>T	ENST00000311519.1	-	11	2855	c.2856G>A	c.(2854-2856)ctG>ctA	p.L952L	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.L753L|GPR113_ENST00000421160.2_Silent_p.L883L|GPR113_ENST00000541401.1_Silent_p.L555L	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	952					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L952L(2)|p.L753L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGAAGGTCTCAGCAACTTCA	0.582																																							uc002rhe.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)	4						c.(2854-2856)CTG>CTA		G-protein coupled receptor 113 isoform 1							52.0	47.0	49.0					2																	26533740		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26533740C>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2856G>A	2.37:g.26533740C>T						GPR113_uc010yky.1_Silent_p.L883L|GPR113_uc002rhb.1_Silent_p.L555L|GPR113_uc010eyk.1_Silent_p.L753L|GPR113_uc002rhc.1_Silent_p.L555L|GPR113_uc002rhd.1_RNA	p.L952L	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN			11	2856	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		952			Cytoplasmic (Potential).		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.2856G>A	CCDS46239.1																																																																																				0.582	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		11	17	0	0	0	0.008291	0	11	17				
ZNF513	130557	broad.mit.edu	37	2	27603003	27603003	+	Missense_Mutation	SNP	G	G	C	rs144091327		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27603003G>C	ENST00000323703.6	-	2	366	c.168C>G	c.(166-168)gaC>gaG	p.D56E	ZNF513_ENST00000407879.1_5'UTR|ZNF513_ENST00000491924.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	56	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.D56E(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTTGCCGTCGCCTTCCT	0.582																																							uc002rkk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)GAC>GAG		zinc finger protein 513							137.0	137.0	137.0					2																	27603003		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27603003G>C	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.168C>G	2.37:g.27603003G>C	ENSP00000318373:p.Asp56Glu					ZNF513_uc002rkj.2_5'UTR	p.D56E	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			2	368	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		56			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.168C>G	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180358	0.57800	.	.	ENSG00000163795	ENST00000323703	T	0.07444	3.19	3.63	2.72	0.32119	.	0.000000	0.42420	D	0.000712	T	0.05456	0.0144	N	0.14661	0.345	0.80722	D	1	P	0.41498	0.752	B	0.42851	0.4	T	0.50857	-0.8778	10	0.30078	T	0.28	-12.2753	7.3298	0.26575	0.1258:0.0:0.8742:0.0	.	56	Q8N8E2	ZN513_HUMAN	E	56	ENSP00000318373:D56E	ENSP00000318373:D56E	D	-	3	2	ZNF513	27456507	0.648000	0.27313	1.000000	0.80357	0.984000	0.73092	0.189000	0.17037	0.840000	0.34995	0.555000	0.69702	GAC		0.582	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		30	159	0	0	0	0.010818	0	30	159				
IFT172	26160	broad.mit.edu	37	2	27706212	27706212	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27706212C>T	ENST00000260570.3	-	7	617	c.514G>A	c.(514-516)Gca>Aca	p.A172T	IFT172_ENST00000359466.6_Missense_Mutation_p.A172T|IFT172_ENST00000416524.2_Missense_Mutation_p.A151T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	172					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.A172T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTACCATCTGCATGACCAGAG	0.423																																							uc002rku.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(514-516)GCA>ACA		selective LIM binding factor homolog							127.0	124.0	125.0					2																	27706212		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27706212C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.514G>A	2.37:g.27706212C>T	ENSP00000260570:p.Ala172Thr					IFT172_uc002rkw.2_Missense_Mutation_p.A172T|IFT172_uc010yls.1_Missense_Mutation_p.A151T|IFT172_uc010ezc.2_Missense_Mutation_p.A172T|IFT172_uc002rkv.2_Missense_Mutation_p.A172T	p.A172T	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			7	565	-	Acute lymphoblastic leukemia(172;0.155)		172			WD 4.		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.514G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777749	0.70107	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.66099	-0.19;-0.19;1.56	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.101919	0.64402	D	0.000003	T	0.80497	0.4634	M	0.82630	2.6	0.80722	D	1	P;D;P;D	0.76494	0.902;0.998;0.945;0.999	P;D;P;D	0.69307	0.644;0.963;0.459;0.963	T	0.80786	-0.1227	10	0.44086	T	0.13	-10.6586	18.0834	0.89449	0.0:1.0:0.0:0.0	.	172;172;172;172	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	T	172;172;151	ENSP00000260570:A172T;ENSP00000352443:A172T;ENSP00000407408:A151T	ENSP00000260570:A172T	A	-	1	0	IFT172	27559716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.618000	0.67722	2.609000	0.88269	0.467000	0.42956	GCA		0.423	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		7	64	0	0	0	0.004482	0	7	64				
C2orf16	84226	broad.mit.edu	37	2	27800472	27800472	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27800472G>C	ENST00000408964.2	+	1	1084	c.1033G>C	c.(1033-1035)Gat>Cat	p.D345H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	345						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.D345H(4)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCACGTCCCAGATTCTGCTTC	0.443																																							uc002rkz.3		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(1)	1						c.(1033-1035)GAT>CAT		hypothetical protein LOC84226							95.0	93.0	94.0					2																	27800472		1918	4132	6050	SO:0001583	missense	84226							g.chr2:27800472G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1033G>C	2.37:g.27800472G>C	ENSP00000386190:p.Asp345His						p.D345H	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1084	+	Acute lymphoblastic leukemia(172;0.155)		345					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1033G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431869	0.43122	.	.	ENSG00000221843	ENST00000408964	T	0.06687	3.27	4.25	0.346	0.16017	.	.	.	.	.	T	0.07548	0.0190	N	0.19112	0.55	0.09310	N	1	D	0.53745	0.962	P	0.50378	0.639	T	0.29274	-1.0017	9	0.56958	D	0.05	.	3.9506	0.09368	0.3078:0.1783:0.5139:0.0	.	345	Q68DN1	CB016_HUMAN	H	345	ENSP00000386190:D345H	ENSP00000386190:D345H	D	+	1	0	C2orf16	27653976	0.002000	0.14202	0.000000	0.03702	0.105000	0.19272	-0.229000	0.09098	-0.056000	0.13221	0.563000	0.77884	GAT		0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	33	0	0	0	0.00308	0	7	33				
C2orf16	84226	broad.mit.edu	37	2	27800886	27800886	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:27800886G>C	ENST00000408964.2	+	1	1498	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	483						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.D483H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGCCACTAGATCAAGTCAC	0.423																																							uc002rkz.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1447-1449)GAT>CAT		hypothetical protein LOC84226							80.0	74.0	76.0					2																	27800886		1898	4120	6018	SO:0001583	missense	84226							g.chr2:27800886G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1447G>C	2.37:g.27800886G>C	ENSP00000386190:p.Asp483His						p.D483H	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1498	+	Acute lymphoblastic leukemia(172;0.155)		483					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1447G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090776	0.20471	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	4.41	0.311	0.15831	.	.	.	.	.	T	0.08088	0.0202	L	0.29908	0.895	0.09310	N	1	P	0.49635	0.926	P	0.55345	0.774	T	0.30297	-0.9983	9	0.40728	T	0.16	.	3.3004	0.06980	0.3165:0.0:0.4827:0.2008	.	483	Q68DN1	CB016_HUMAN	H	483	ENSP00000386190:D483H	ENSP00000386190:D483H	D	+	1	0	C2orf16	27654390	0.000000	0.05858	0.072000	0.20136	0.859000	0.49053	-0.186000	0.09670	0.103000	0.17682	-0.253000	0.11424	GAT		0.423	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	45	0	0	0	0.001984	0	7	45				
XDH	7498	broad.mit.edu	37	2	31595220	31595220	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:31595220G>A	ENST00000379416.3	-	17	1778	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	577					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.P577L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTGGGGCAGGGGCCGGCCCAC	0.622																																					Colon(66;682 1445 30109 40147)	Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1729-1731)CCC>CTC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						92.0	97.0	96.0					2																	31595220		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31595220G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1730C>T	2.37:g.31595220G>A	ENSP00000368727:p.Pro577Leu						p.P577L	NM_000379	NP_000370	P47989	XDH_HUMAN			17	1809	-	Acute lymphoblastic leukemia(172;0.155)		577					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1730C>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565614	0.96540	.	.	ENSG00000158125	ENST00000379416	T	0.14266	2.52	6.04	6.04	0.98038	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (2);	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.54503	-0.8284	10	0.87932	D	0	.	20.1896	0.98226	0.0:0.0:1.0:0.0	.	577	P47989	XDH_HUMAN	L	577	ENSP00000368727:P577L	ENSP00000368727:P577L	P	-	2	0	XDH	31448724	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	9.827000	0.99397	2.873000	0.98535	0.561000	0.74099	CCC		0.622	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		41	193	0	0	0	0.009718	0	41	193				
LTBP1	4052	broad.mit.edu	37	2	33172863	33172863	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:33172863C>T	ENST00000404816.2	+	1	825	c.472C>T	c.(472-474)Cac>Tac	p.H158Y	Y_RNA_ENST00000384224.1_RNA|LTBP1_ENST00000354476.3_Missense_Mutation_p.H158Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	158					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.H158Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGCAGGTTCACCAGAAGCA	0.721																																							uc002ros.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(472-474)CAC>TAC		latent transforming growth factor beta binding							8.0	7.0	7.0					2																	33172863		1573	2957	4530	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33172863C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.472C>T	2.37:g.33172863C>T	ENSP00000386043:p.His158Tyr						p.H158Y	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			1	472	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	158					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.472C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004363	0.35320	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80653	-1.4;-1.39	4.67	4.67	0.58626	.	.	.	.	.	T	0.68256	0.2981	N	0.14661	0.345	0.80722	D	1	B	0.25105	0.118	B	0.25884	0.064	T	0.67991	-0.5527	9	0.54805	T	0.06	.	14.5054	0.67748	0.0:1.0:0.0:0.0	.	158	Q14766-4	.	Y	158	ENSP00000386043:H158Y;ENSP00000346467:H158Y	ENSP00000346467:H158Y	H	+	1	0	LTBP1	33026367	0.994000	0.37717	0.998000	0.56505	0.997000	0.91878	3.623000	0.54224	2.130000	0.65690	0.561000	0.74099	CAC		0.721	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		8	9	0	0	0	0.00308	0	8	9				
NDUFAF7	55471	broad.mit.edu	37	2	37464981	37464981	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:37464981A>G	ENST00000002125.4	+	4	419	c.379A>G	c.(379-381)Agg>Ggg	p.R127G	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.R100G|NDUFAF7_ENST00000483999.1_Intron	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	127					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)	p.R127G(1)									GGGCCCAGGTAGGGGAACCCT	0.423																																							uc002rqa.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(379-381)AGG>GGG		hypothetical protein LOC55471 isoform 1							53.0	62.0	59.0					2																	37464981		2203	4300	6503	SO:0001583	missense	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37464981A>G		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.379A>G	2.37:g.37464981A>G	ENSP00000002125:p.Arg127Gly					C2orf56_uc010ynj.1_Intron|C2orf56_uc002rqc.3_Missense_Mutation_p.R100G|C2orf56_uc010ynk.1_Missense_Mutation_p.R127G|C2orf56_uc010ynl.1_Missense_Mutation_p.R100G	p.R127G	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			4	454	+		all_hematologic(82;0.21)	127					Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.379A>G	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834723	0.71373	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000416653;ENST00000439218;ENST00000432075	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.84	2.2	0.27929	.	0.195799	0.51477	D	0.000100	D	0.89715	0.6795	H	0.94886	3.595	0.21064	N	0.999795	D;P;P;D	0.59767	0.986;0.901;0.879;0.986	D;P;P;P	0.64877	0.93;0.679;0.55;0.903	D	0.84025	0.0356	9	.	.	.	-15.3467	13.5833	0.61915	0.5463:0.4537:0.0:0.0	.	100;127;100;127	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	G	127;100;48;85;85;85	ENSP00000002125:R127G;ENSP00000337431:R100G;ENSP00000399207:R48G;ENSP00000410181:R85G;ENSP00000394436:R85G;ENSP00000402959:R85G	.	R	+	1	2	C2orf56	37318485	0.925000	0.31364	0.962000	0.40283	0.998000	0.95712	2.011000	0.40922	0.143000	0.18926	0.533000	0.62120	AGG		0.423	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		5	21	0	0	0	0.000602	0	5	21				
HNRNPLL	92906	broad.mit.edu	37	2	38796436	38796436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:38796436C>A	ENST00000449105.3	-	10	1594	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	HNRNPLL_ENST00000608859.1_Nonsense_Mutation_p.E419*|HNRNPLL_ENST00000409636.1_Nonsense_Mutation_p.E414*|HNRNPLL_ENST00000409328.1_Nonsense_Mutation_p.E385*|HNRNPLL_ENST00000378915.3_Nonsense_Mutation_p.E385*			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	419					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E419*(2)									TCCTCCAGCTCAAATATTTGA	0.368																																							uc002rqw.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(1255-1257)GAG>TAG		heterogeneous nuclear ribonucleoprotein L-like							71.0	67.0	68.0					2																	38796436		2203	4300	6503	SO:0001587	stop_gained	92906				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr2:38796436C>A	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.1255G>T	2.37:g.38796436C>A	ENSP00000390625:p.Glu419*					HNRPLL_uc002rqv.2_Nonsense_Mutation_p.E114*|HNRPLL_uc002rqx.2_Nonsense_Mutation_p.E414*	p.E419*	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN			10	1665	-		all_hematologic(82;0.248)	419					Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Nonsense_Mutation	SNP	ENST00000449105.3	37	c.1255G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.179193|8.179193	0.98691|0.98691	.|.	.|.	ENSG00000143889|ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328|ENST00000441689	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.08381|.	T|.	0.77|.	.|.	19.0987|19.0987	0.93265|0.93265	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	419;414;385;385|25	.|.	ENSP00000368195:E385X|.	E|X	-|-	1|2	0|2	HNRPLL|HNRPLL	38649940|38649940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.865000|5.865000	0.69583|0.69583	2.593000|2.593000	0.87608|0.87608	0.467000|0.467000	0.42956|0.42956	GAG|TGA		0.368	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		9	18	1	0	2.74318e-10	0.006214	3.3641e-10	9	18				
DHX57	90957	broad.mit.edu	37	2	39088536	39088536	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:39088536T>G	ENST00000295373.6	-	5	1142	c.1016A>C	c.(1015-1017)gAt>gCt	p.D339A	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	339							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D339A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAGAATCATCTACACTTCT	0.333																																					Melanoma(191;1090 2095 4375 23729 47341)	Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1015-1017)GAT>GCT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							55.0	55.0	55.0					2																	39088536		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088536T>G	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1016A>C	2.37:g.39088536T>G	ENSP00000295373:p.Asp339Ala					DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.D339A	p.D339A	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			5	1115	-		all_hematologic(82;0.248)	339					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1016A>C	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.453067	0.63290	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.02737	4.18	5.78	4.61	0.57282	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.103576	0.42548	D	0.000700	T	0.06096	0.0158	L	0.42245	1.32	0.38861	D	0.956478	P;P	0.50943	0.94;0.608	P;B	0.54629	0.757;0.326	T	0.53258	-0.8464	10	0.17369	T	0.5	.	11.055	0.47913	0.1383:0.0:0.0:0.8617	.	339;339	Q6P158-2;Q6P158	.;DHX57_HUMAN	A	339;237	ENSP00000295373:D339A	ENSP00000295373:D339A	D	-	2	0	DHX57	38942040	.	.	1.000000	0.80357	0.987000	0.75469	.	.	0.991000	0.38814	0.460000	0.39030	GAT		0.333	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		11	14	0	0	0	0.008291	0	11	14				
SOS1	6654	broad.mit.edu	37	2	39278356	39278356	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:39278356C>T	ENST00000426016.1	-	7	879	c.793G>A	c.(793-795)Gat>Aat	p.D265N	SOS1_ENST00000428721.2_Missense_Mutation_p.D208N|SOS1_ENST00000402219.2_Missense_Mutation_p.D265N|SOS1_ENST00000395038.2_Missense_Mutation_p.D265N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	265	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D265N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTACTGTATCTTCTATATGG	0.373									Noonan syndrome																														uc002rrk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(793-795)GAT>AAT		son of sevenless homolog 1							131.0	130.0	130.0					2																	39278356		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39278356C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.793G>A	2.37:g.39278356C>T	ENSP00000387784:p.Asp265Asn					SOS1_uc010ynr.1_RNA|SOS1_uc002rrl.2_5'UTR	p.D265N	NM_005633	NP_005624	Q07889	SOS1_HUMAN			6	834	-		all_hematologic(82;0.21)	265			DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.793G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	35	5.453062	0.96223	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721	D;D;D;T	0.92595	-3.07;-3.07;-3.07;0.63	5.65	5.65	0.86999	Dbl homology (DH) domain (5);	0.053507	0.64402	D	0.000001	D	0.95752	0.8618	M	0.80422	2.495	0.80722	D	1	P	0.38535	0.635	P	0.53450	0.726	D	0.95655	0.8710	10	0.87932	D	0	.	19.3293	0.94278	0.0:1.0:0.0:0.0	.	265	Q07889	SOS1_HUMAN	N	265;265;265;265;208	ENSP00000387784:D265N;ENSP00000384675:D265N;ENSP00000378479:D265N;ENSP00000399992:D208N	ENSP00000263879:D265N	D	-	1	0	SOS1	39131860	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.711000	0.84669	2.665000	0.90641	0.563000	0.77884	GAT		0.373	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		6	33	0	0	0	0.001168	0	6	33				
EML4	27436	broad.mit.edu	37	2	42511835	42511835	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:42511835G>C	ENST00000318522.5	+	9	1265	c.1003G>C	c.(1003-1005)Gat>Cat	p.D335H	EML4_ENST00000401738.3_Missense_Mutation_p.D346H|EML4_ENST00000402711.2_Missense_Mutation_p.D277H	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	335					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.D335H(2)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CGTGGATAAAGATGGAAGGGT	0.368			T	ALK	NSCLC																																		uc002rsi.2		NA		Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	2	Substitution - Missense(2)		lung(2)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(1003-1005)GAT>CAT		echinoderm microtubule associated protein like 4							166.0	157.0	160.0					2																	42511835		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42511835G>C	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1003G>C	2.37:g.42511835G>C	ENSP00000320663:p.Asp335His					EML4_uc010fap.2_Missense_Mutation_p.D277H|EML4_uc002rsj.2_5'Flank	p.D335H	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			9	1265	+			335			WD 1.		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1003G>C	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423784	0.83667	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.65364	-0.15;-0.15;-0.15	4.65	4.65	0.58169	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.76574	2.34	0.80722	D	1	P;D	0.89917	0.861;1.0	B;D	0.91635	0.445;0.999	T	0.82552	-0.0400	10	0.72032	D	0.01	-15.4116	17.9049	0.88915	0.0:0.0:1.0:0.0	.	277;335	B5MCW9;Q9HC35	.;EMAL4_HUMAN	H	335;277;346	ENSP00000320663:D335H;ENSP00000385059:D277H;ENSP00000384939:D346H	ENSP00000320663:D335H	D	+	1	0	EML4	42365339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.393000	0.97256	2.287000	0.76781	0.491000	0.48974	GAT		0.368	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		7	27	0	0	0	0.00308	0	7	27				
SLC3A1	6519	broad.mit.edu	37	2	44503035	44503035	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:44503035G>T	ENST00000260649.6	+	1	437	c.361G>T	c.(361-363)Ggg>Tgg	p.G121W	SLC3A1_ENST00000410056.3_Missense_Mutation_p.G121W|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G121W|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G121W|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G121W	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	121					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.G121W(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTGGCAGGAGGGGCCCATGTA	0.542																																							uc002ruc.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(361-363)GGG>TGG		solute carrier family 3, member 1	L-Cystine(DB00138)						81.0	82.0	82.0					2																	44503035		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44503035G>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.361G>T	2.37:g.44503035G>T	ENSP00000260649:p.Gly121Trp					SLC3A1_uc002rty.2_Missense_Mutation_p.G121W|SLC3A1_uc002rtz.2_Missense_Mutation_p.G121W|SLC3A1_uc002rua.2_Missense_Mutation_p.G121W|SLC3A1_uc002rub.2_Missense_Mutation_p.G121W	p.G121W	NM_000341	NP_000332	Q07837	SLC31_HUMAN			1	439	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	121			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.361G>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212772	0.58452	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99515	-6.06;-6.06;-5.49;-6.06;-6.06	5.5	4.43	0.53597	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.224193	0.47093	D	0.000254	D	0.99429	0.9798	M	0.84948	2.725	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.998;0.998;0.999;0.999;0.999	D;D;D;D;D	0.72338	0.977;0.977;0.944;0.944;0.944	D	0.98254	1.0495	10	0.87932	D	0	-20.6371	11.3084	0.49349	0.1992:0.0:0.8008:0.0	.	121;121;121;121;121	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	W	121;121;57;121;121;121;121	ENSP00000260649:G121W;ENSP00000387308:G121W;ENSP00000387337:G121W;ENSP00000386954:G121W;ENSP00000386620:G121W	ENSP00000260649:G121W	G	+	1	0	SLC3A1	44356539	0.920000	0.31207	0.888000	0.34837	0.998000	0.95712	1.582000	0.36568	2.566000	0.86566	0.655000	0.94253	GGG		0.542	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		48	60	1	0	4.10826e-27	0.01441	5.67573e-27	48	60				
BCL11A	53335	broad.mit.edu	37	2	60688050	60688050	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:60688050G>C	ENST00000335712.6	-	4	2224	c.1997C>G	c.(1996-1998)tCc>tGc	p.S666C	BCL11A_ENST00000538214.1_Missense_Mutation_p.S632C|BCL11A_ENST00000537768.1_Missense_Mutation_p.S335C|BCL11A_ENST00000358510.4_Missense_Mutation_p.S632C|BCL11A_ENST00000356842.4_Missense_Mutation_p.S666C|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	666					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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 involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.S666C(4)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGCCTGGAGGCCGCGTA	0.612			T	IGH@	B-CLL																																		uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		4	Substitution - Missense(4)		lung(4)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1996-1998)TCC>TGC		B-cell CLL/lymphoma 11A isoform 1							32.0	39.0	37.0					2																	60688050		2199	4293	6492	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688050G>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1997C>G	2.37:g.60688050G>C	ENSP00000338774:p.Ser666Cys					BCL11A_uc002sab.2_Missense_Mutation_p.S666C|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.S335C|BCL11A_uc010ypj.1_Missense_Mutation_p.S632C|BCL11A_uc002sad.1_Missense_Mutation_p.S514C|BCL11A_uc002saf.1_Missense_Mutation_p.S632C	p.S666C	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2225	-			666					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1997C>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501047	0.44455	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.18960	2.18;3.14;2.49;3.18;3.09	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.984;0.993;0.999;0.999	T	0.10064	-1.0646	10	0.54805	T	0.06	-2.4949	20.3465	0.98790	0.0:0.0:1.0:0.0	.	632;335;632;666;666	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	C	666;691;632;335;666;632	ENSP00000349300:S666C;ENSP00000438303:S632C;ENSP00000443712:S335C;ENSP00000338774:S666C;ENSP00000351307:S632C	ENSP00000338774:S666C	S	-	2	0	BCL11A	60541554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	TCC		0.612	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		19	34	0	0	0	0.006122	0	19	34				
CLEC4F	165530	broad.mit.edu	37	2	71039605	71039605	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:71039605C>A	ENST00000272367.2	-	5	1589	c.1513G>T	c.(1513-1515)Gca>Tca	p.A505S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A505S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	505	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A505S(2)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCCACAGATGCCAGATGGGCT	0.512																																					Colon(107;10 2157 6841 26035)	Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(1513-1515)GCA>TCA		C-type lectin, superfamily member 13							83.0	81.0	82.0					2																	71039605		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71039605C>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1513G>T	2.37:g.71039605C>A	ENSP00000272367:p.Ala505Ser					CLEC4F_uc010yqv.1_Missense_Mutation_p.A505S	p.A505S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			5	1590	-			505			Extracellular (Potential).|C-type lectin.		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.1513G>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	c	14.46	2.541049	0.45280	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.22743	1.94;1.94	4.4	1.57	0.23409	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.592571	0.14045	N	0.345193	T	0.39036	0.1063	M	0.87617	2.895	0.20975	N	0.999817	P;P	0.50528	0.936;0.936	P;P	0.55112	0.752;0.769	T	0.16778	-1.0391	10	0.62326	D	0.03	.	5.6278	0.17492	0.0:0.6564:0.0:0.3436	.	505;505	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	S	505	ENSP00000272367:A505S;ENSP00000390581:A505S	ENSP00000272367:A505S	A	-	1	0	CLEC4F	70893113	0.992000	0.36948	1.000000	0.80357	0.285000	0.27093	0.252000	0.18278	0.570000	0.29347	0.291000	0.19559	GCA		0.512	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		45	40	1	0	1.56793e-16	0.01441	2.07721e-16	45	40				
INO80B	83444	broad.mit.edu	37	2	74682559	74682559	+	Missense_Mutation	SNP	G	G	T	rs115610738		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:74682559G>T	ENST00000233331.7	+	2	179	c.85G>T	c.(85-87)Ggt>Tgt	p.G29C	WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.G29C	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	29					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G16C(2)|p.G29C(2)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GAGCCTGGCGGGTGCCCATGG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18026	0.0		0.0	False		,,,				2504	0.0						uc002slg.2		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(85-87)GGT>TGT		high mobility group AT-hook 1-like 4							50.0	61.0	58.0					2																	74682559		2202	4299	6501	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74682559G>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.85G>T	2.37:g.74682559G>T	ENSP00000233331:p.Gly29Cys					INO80B_uc002slf.1_Missense_Mutation_p.G16C|INO80B_uc010yrr.1_Missense_Mutation_p.G16C|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.G47C	p.G29C	NM_031288	NP_112578	Q9C086	IN80B_HUMAN			2	130	+			29						Missense_Mutation	SNP	ENST00000233331.7	37	c.85G>T	CCDS1942.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.84	2.950757	0.53186	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.52983	0.66;0.67;0.68;0.64	5.4	3.6	0.41247	.	0.149471	0.43110	D	0.000602	T	0.44540	0.1298	N	0.08118	0	0.26981	N	0.965355	P;P;D;D	0.76494	0.832;0.626;0.998;0.999	B;B;D;D	0.74674	0.249;0.061;0.965;0.984	T	0.32534	-0.9903	10	0.72032	D	0.01	-1.8696	8.9197	0.35604	0.1721:0.0:0.8279:0.0	.	47;29;29;29	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	C	29;29;29;34	ENSP00000233331:G29C;ENSP00000389887:G29C;ENSP00000387267:G29C;ENSP00000386937:G34C	ENSP00000233331:G29C	G	+	1	0	INO80B	74536067	0.772000	0.28567	0.746000	0.31095	0.704000	0.40688	0.824000	0.27379	0.751000	0.32900	0.563000	0.77884	GGT		0.562	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		16	69	1	0	2.31682e-05	0.003163	2.54658e-05	16	69				
HK2	3099	broad.mit.edu	37	2	75107651	75107651	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:75107651G>A	ENST00000290573.2	+	10	2125	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	HK2_ENST00000409174.1_Missense_Mutation_p.V481I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	509	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.V509I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAGTGCCCCCGTCAAGATGCT	0.597																																							uc002snd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1525-1527)GTC>ATC		hexokinase 2							74.0	73.0	73.0					2																	75107651		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107651G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1525G>A	2.37:g.75107651G>A	ENSP00000290573:p.Val509Ile						p.V509I	NM_000189	NP_000180	P52789	HXK2_HUMAN			10	3451	+			509			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1525G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358474	0.61403	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98345	-4.88;-4.88	4.99	4.99	0.66335	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	L	0.51853	1.615	0.80722	D	1	D	0.61697	0.99	D	0.73380	0.98	D	0.97702	1.0185	10	0.35671	T	0.21	-40.4869	16.1435	0.81544	0.0:0.0:1.0:0.0	.	509	P52789	HXK2_HUMAN	I	509;509;481	ENSP00000290573:V509I;ENSP00000387140:V481I	ENSP00000290573:V509I	V	+	1	0	HK2	74961159	1.000000	0.71417	0.963000	0.40424	0.607000	0.37147	7.613000	0.82986	2.756000	0.94617	0.655000	0.94253	GTC		0.597	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		16	37	0	0	0	0.004007	0	16	37				
THNSL2	55258	broad.mit.edu	37	2	88482504	88482504	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:88482504C>T	ENST00000324166.5	+	6	2680	c.989C>T	c.(988-990)tCt>tTt	p.S330F	THNSL2_ENST00000343544.4_Missense_Mutation_p.S330F|THNSL2_ENST00000358591.2_Missense_Mutation_p.S330F|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Missense_Mutation_p.S330F|THNSL2_ENST00000402102.1_Missense_Mutation_p.S330F|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	330					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.S330F(2)|p.S330fs*2(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGGCTGCTCTCTGGCTCTGAC	0.547																																							uc002ssz.3		NA																	3	Substitution - Missense(2)|Deletion - Frameshift(1)		lung(2)|breast(1)	ovary(1)	1						c.(988-990)TCT>TTT		threonine synthase-like 2							80.0	72.0	75.0					2																	88482504		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88482504C>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.989C>T	2.37:g.88482504C>T	ENSP00000327323:p.Ser330Phe					THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.S330F|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Missense_Mutation_p.S172F|THNSL2_uc002ssy.3_Missense_Mutation_p.S330F|THNSL2_uc010fhe.2_Missense_Mutation_p.S172F	p.S330F	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			7	1142	+			330					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.989C>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260409	0.59431	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000544063;ENST00000343544;ENST00000324166	T;D;D;D;T	0.96913	2.79;-4.17;-4.17;-4.17;2.79	5.77	5.77	0.91146	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.211332	0.43579	D	0.000560	D	0.96506	0.8860	L	0.55017	1.72	0.46028	D	0.998826	P;P;D	0.55385	0.948;0.877;0.971	P;P;P	0.56751	0.737;0.794;0.805	D	0.94424	0.7643	10	0.10636	T	0.68	.	18.9702	0.92712	0.0:1.0:0.0:0.0	.	172;330;330	A8K0C1;Q86YJ6;Q86YJ6-2	.;THNS2_HUMAN;.	F	330;330;330;172;330;330	ENSP00000351402:S330F;ENSP00000366464:S330F;ENSP00000384475:S330F;ENSP00000339563:S330F;ENSP00000327323:S330F	ENSP00000327323:S330F	S	+	2	0	THNSL2	88263619	0.996000	0.38824	0.222000	0.23844	0.389000	0.30415	4.309000	0.59135	2.737000	0.93849	0.561000	0.74099	TCT		0.547	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		7	24	0	0	0	0.00308	0	7	24				
RPIA	22934	broad.mit.edu	37	2	89035252	89035252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:89035252C>G	ENST00000283646.4	+	6	649	c.594C>G	c.(592-594)ttC>ttG	p.F198L		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	198					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.F198L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TCGCTGATTTCAGGTACAGTT	0.517																																							uc002ste.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(592-594)TTC>TTG		ribose 5-phosphate isomerase A							158.0	152.0	154.0					2																	89035252		1985	4160	6145	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89035252C>G	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.594C>G	2.37:g.89035252C>G	ENSP00000283646:p.Phe198Leu						p.F198L	NM_144563	NP_653164	P49247	RPIA_HUMAN			6	635	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	198					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.594C>G	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946613	0.34377	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.75938	-0.98	5.56	3.44	0.39384	.	0.102555	0.64402	D	0.000002	T	0.71863	0.3390	M	0.68317	2.08	0.58432	D	0.999996	B	0.29341	0.242	B	0.36766	0.232	T	0.65459	-0.6163	10	0.11485	T	0.65	-12.6739	13.1142	0.59292	0.0:0.8446:0.0:0.1554	.	198	P49247	RPIA_HUMAN	L	198;64	ENSP00000283646:F198L	ENSP00000283646:F198L	F	+	3	2	RPIA	88816367	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.573000	0.36472	1.348000	0.45733	-0.244000	0.11960	TTC		0.517	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			60	114	0	0	0	0.01441	0	60	114				
MRPS5	64969	broad.mit.edu	37	2	95756262	95756262	+	Missense_Mutation	SNP	C	C	A	rs559207856	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:95756262C>A	ENST00000272418.2	-	11	1145	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	313					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G313C(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCGGAGGCCGTAACCTAGA	0.572																																							uc002sub.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(937-939)GGC>TGC		mitochondrial ribosomal protein S5							76.0	77.0	76.0					2																	95756262		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95756262C>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.937G>T	2.37:g.95756262C>A	ENSP00000272418:p.Gly313Cys					MRPS5_uc002suc.2_RNA	p.G313C	NM_031902	NP_114108	P82675	RT05_HUMAN			11	1155	-			313					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.937G>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140312	0.77775	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.09	5.09	0.68999	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5, C-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88813	0.3293	9	0.87932	D	0	-10.3817	15.9692	0.79998	0.0:1.0:0.0:0.0	.	313	P82675	RT05_HUMAN	C	313	.	ENSP00000272418:G313C	G	-	1	0	MRPS5	95119989	1.000000	0.71417	0.974000	0.42286	0.642000	0.38348	7.223000	0.78033	2.360000	0.80028	0.591000	0.81541	GGC		0.572	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		29	91	1	0	1.50538e-07	0.00632	1.76275e-07	29	91				
LMAN2L	81562	broad.mit.edu	37	2	97368993	97368993	+	IGR	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:97368993C>T	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.I1903I(2)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CCTATTTCATCCAATACAAGC	0.572																																							uc010fia.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(5707-5709)ATC>ATT		fer-1-like 5 isoform 2							89.0	93.0	92.0					2																	97368993		1961	4148	6109	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97368993C>T	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97368993C>T						FER1L5_uc002sws.3_Silent_p.I612I|FER1L5_uc002swt.3_Silent_p.I612I|FER1L5_uc010yus.1_Silent_p.I611I	p.I1903I	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			49	5709	+			1903					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.5709C>T	CCDS2023.1																																																																																				0.572	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		52	127	0	0	0	0.01441	0	52	127				
EIF5B	9669	broad.mit.edu	37	2	99985017	99985017	+	Missense_Mutation	SNP	G	G	C	rs3205291		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:99985017G>C	ENST00000289371.6	+	7	1552	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	450					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.K450N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGATAAAAAGAGGAAAAAAA	0.353																																					Colon(162;2388 2567 2705 3444)	Colon(162;2388 2567 2705 3444)	uc002tab.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1348-1350)AAG>AAC		eukaryotic translation initiation factor 5B							89.0	81.0	83.0					2																	99985017		1808	4086	5894	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99985017G>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1350G>C	2.37:g.99985017G>C	ENSP00000289371:p.Lys450Asn						p.K450N	NM_015904	NP_056988	O60841	IF2P_HUMAN			7	1534	+			450					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1350G>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265126	0.59431	.	.	ENSG00000158417	ENST00000289371	T	0.58797	0.31	5.22	4.31	0.51392	.	.	.	.	.	T	0.69584	0.3127	M	0.78637	2.42	0.49798	D	0.999826	D	0.63880	0.993	P	0.56343	0.796	T	0.71974	-0.4430	8	.	.	.	-19.9904	12.071	0.53616	0.0887:0.0:0.9113:0.0	.	450	O60841	IF2P_HUMAN	N	450	ENSP00000289371:K450N	.	K	+	3	2	EIF5B	99351449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.052000	0.57420	1.235000	0.43724	0.655000	0.94253	AAG		0.353	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		7	31	0	0	0	0.00308	0	7	31				
NCK2	8440	broad.mit.edu	37	2	106498084	106498084	+	Missense_Mutation	SNP	C	C	G	rs369379486		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:106498084C>G	ENST00000233154.4	+	4	969	c.527C>G	c.(526-528)tCc>tGc	p.S176C	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S176C	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	176					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)	p.S176C(1)		endometrium(1)|lung(3)|ovary(1)	5						GCTGCGGAGTCCCCAAGCTTC	0.657																																							uc002tdg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(526-528)TCC>TGC		NCK adaptor protein 2 isoform A							53.0	58.0	57.0					2																	106498084		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498084C>G	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.527C>G	2.37:g.106498084C>G	ENSP00000233154:p.Ser176Cys					NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.S176C	p.S176C	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	969	+			176					D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.527C>G	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485773	0.26686	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.72167	-0.63;-0.63	5.54	5.54	0.83059	.	0.467664	0.26307	N	0.025126	T	0.72260	0.3438	L	0.47716	1.5	0.80722	D	1	B	0.26081	0.141	B	0.36885	0.235	T	0.69176	-0.5214	10	0.52906	T	0.07	.	19.8311	0.96636	0.0:1.0:0.0:0.0	.	176	O43639	NCK2_HUMAN	C	176	ENSP00000233154:S176C;ENSP00000377018:S176C	ENSP00000233154:S176C	S	+	2	0	NCK2	105864516	1.000000	0.71417	0.150000	0.22450	0.002000	0.02628	4.361000	0.59461	2.768000	0.95171	0.561000	0.74099	TCC		0.657	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		8	103	0	0	0	0.00308	0	8	103				
SLC5A7	60482	broad.mit.edu	37	2	108609503	108609503	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:108609503G>A	ENST00000264047.2	+	4	644	c.368G>A	c.(367-369)gGa>gAa	p.G123E	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G123E|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G18E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	123					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.G123E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAATCTATGGAAAACGCATG	0.448																																							uc002tdv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(367-369)GGA>GAA		solute carrier family 5 (choline transporter),	Choline(DB00122)						144.0	141.0	142.0					2																	108609503		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108609503G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.368G>A	2.37:g.108609503G>A	ENSP00000264047:p.Gly123Glu					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.G123E|SLC5A7_uc010ywn.1_Missense_Mutation_p.G10E	p.G123E	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			4	644	+			123			Extracellular (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.368G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936319	0.92458	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88277	-2.36;-2.36;-2.36	6.16	5.28	0.74379	.	0.049308	0.85682	N	0.000000	D	0.95717	0.8607	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95788	0.8822	10	0.39692	T	0.17	-13.9401	15.4433	0.75204	0.0661:0.0:0.9339:0.0	.	123	Q9GZV3	SC5A7_HUMAN	E	123;18;123	ENSP00000387346:G123E;ENSP00000445351:G18E;ENSP00000264047:G123E	ENSP00000264047:G123E	G	+	2	0	SLC5A7	107975935	1.000000	0.71417	0.871000	0.34182	0.995000	0.86356	9.869000	0.99810	1.612000	0.50221	0.650000	0.86243	GGA		0.448	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			14	57	0	0	0	0.00245	0	14	57				
SH3RF3	344558	broad.mit.edu	37	2	110048969	110048969	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:110048969C>G	ENST00000309415.6	+	6	1416	c.1416C>G	c.(1414-1416)ctC>ctG	p.L472L		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	472	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)	p.L472L(2)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACCTGGCGCTCTACGCCTACA	0.632																																							uc010ywt.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1414-1416)CTC>CTG		SH3 domain containing ring finger 3							31.0	35.0	34.0					2																	110048969		2011	4177	6188	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110048969C>G	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1416C>G	2.37:g.110048969C>G							p.L472L	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			6	1416	+			472			SH3 3.		A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1416C>G																																																																																					0.632	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		12	15	0	0	0	0.001855	0	12	15				
BUB1	699	broad.mit.edu	37	2	111395637	111395637	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:111395637C>T	ENST00000302759.6	-	25	3280	c.3162G>A	c.(3160-3162)ctG>ctA	p.L1054L	BUB1_ENST00000409311.1_Silent_p.L997L|BUB1_ENST00000535254.1_Silent_p.L1034L	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1054	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L1054L(2)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATACTTTCTTCAGCTTTTGCC	0.338																																							uc002tgc.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(3160-3162)CTG>CTA		budding uninhibited by benzimidazoles 1							172.0	164.0	167.0					2																	111395637		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111395637C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.3162G>A	2.37:g.111395637C>T						BUB1_uc010yxh.1_Silent_p.L1034L|BUB1_uc010fkb.2_Silent_p.L997L	p.L1054L	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	25	3274	-		Ovarian(717;0.0822)	1054			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.3162G>A	CCDS33273.1																																																																																				0.338	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		10	22	0	0	0	0.008291	0	10	22				
BUB1	699	broad.mit.edu	37	2	111425235	111425235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:111425235G>C	ENST00000302759.6	-	8	786	c.668C>G	c.(667-669)tCa>tGa	p.S223*	BUB1_ENST00000409311.1_Nonsense_Mutation_p.S223*|BUB1_ENST00000535254.1_Nonsense_Mutation_p.S203*	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	223					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S223*(1)|p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCCAAAGATGAGTGCACAGA	0.378																																							uc002tgc.2		NA																	2	Substitution - Nonsense(1)|Complex - deletion inframe(1)	p.V221_S227>S(1)	lung(1)|kidney(1)	lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(667-669)TCA>TGA		budding uninhibited by benzimidazoles 1							95.0	95.0	95.0					2																	111425235		2203	4300	6503	SO:0001587	stop_gained	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111425235G>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.668C>G	2.37:g.111425235G>C	ENSP00000302530:p.Ser223*					BUB1_uc010yxh.1_Nonsense_Mutation_p.S203*|BUB1_uc010fkb.2_Nonsense_Mutation_p.S223*|BUB1_uc002tgd.2_Nonsense_Mutation_p.S223*	p.S223*	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	8	780	-		Ovarian(717;0.0822)	223					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Nonsense_Mutation	SNP	ENST00000302759.6	37	c.668C>G	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467022	0.96257	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	.	.	.	5.72	4.81	0.61882	.	0.818936	0.11257	N	0.583017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-0.5619	12.2215	0.54437	0.0:0.0:0.8313:0.1687	.	.	.	.	X	203;223;223;223	.	ENSP00000302530:S223X	S	-	2	0	BUB1	111141706	0.079000	0.21365	0.009000	0.14445	0.850000	0.48378	2.716000	0.47219	2.708000	0.92522	0.650000	0.86243	TCA		0.378	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		8	47	0	0	0	0.00308	0	8	47				
TTL	150465	broad.mit.edu	37	2	113286318	113286318	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113286318A>T	ENST00000233336.6	+	7	1271	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	360	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)	p.P360P(2)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTGTCTTCCCACCCCCAGATG	0.512			T	ETV6	ALL																																		uc002thu.2		NA		Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		2	Substitution - coding silent(2)		lung(2)		0						c.(1078-1080)CCA>CCT		tubulin tyrosine ligase							107.0	100.0	102.0					2																	113286318		2203	4300	6503	SO:0001819	synonymous_variant	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113286318A>T		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.1080A>T	2.37:g.113286318A>T						TTL_uc010fkm.1_Intron	p.P360P	NM_153712	NP_714923	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	7	1259	+		Ovarian(717;0.024)	360			TTL.		Q585T3|Q7Z302|Q8N426	Silent	SNP	ENST00000233336.6	37	c.1080A>T	CCDS2096.1																																																																																				0.512	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		32	62	0	0	0	0.013726	0	32	62				
IL1A	3552	broad.mit.edu	37	2	113539390	113539390	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113539390T>C	ENST00000263339.3	-	4	265	c.110A>G	c.(109-111)cAt>cGt	p.H37R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	37					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)	p.H37R(2)		breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	ATAGCTTACATGATAGAAGGA	0.443																																							uc002tig.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(109-111)CAT>CGT		interleukin 1, alpha proprotein							77.0	73.0	74.0					2																	113539390		2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113539390T>C	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.110A>G	2.37:g.113539390T>C	ENSP00000263339:p.His37Arg						p.H37R	NM_000575	NP_000566	P01583	IL1A_HUMAN			4	1070	-			37					Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.110A>G	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	T	7.870	0.728034	0.15507	.	.	ENSG00000115008	ENST00000263339	T	0.40756	1.02	5.35	2.88	0.33553	Interleukin-1 propeptide (1);	0.519441	0.17850	N	0.159917	T	0.24586	0.0596	N	0.08118	0	0.09310	N	1	B	0.20887	0.049	B	0.26693	0.072	T	0.25676	-1.0125	10	0.72032	D	0.01	-5.5012	9.9709	0.41754	0.0:0.0:0.3294:0.6706	.	37	P01583	IL1A_HUMAN	R	37	ENSP00000263339:H37R	ENSP00000263339:H37R	H	-	2	0	IL1A	113255861	0.761000	0.28439	0.347000	0.25668	0.211000	0.24417	1.998000	0.40796	0.507000	0.28148	-0.313000	0.08912	CAT		0.443	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		23	27	0	0	0	0.00333	0	23	27				
PSD4	23550	broad.mit.edu	37	2	113955199	113955199	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:113955199C>T	ENST00000245796.6	+	13	2640	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	PSD4_ENST00000441564.3_Silent_p.L787L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	815	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.L815L(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATGGTTCTCTACTTCCTGA	0.552																																							uc002tjc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2443-2445)CTC>CTT		pleckstrin and Sec7 domain containing 4							91.0	82.0	85.0					2																	113955199		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955199C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2445C>T	2.37:g.113955199C>T						PSD4_uc002tjd.2_Silent_p.L436L|PSD4_uc002tje.2_Silent_p.L786L|PSD4_uc002tjf.2_Silent_p.L436L|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Silent_p.L46L|PSD4_uc002tjh.2_5'Flank	p.L815L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			13	2628	+			815			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.2445C>T	CCDS33276.1																																																																																				0.552	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		23	49	0	0	0	0.014323	0	23	49				
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																							uc010yxx.1		NA																	0					0						c.(382-384)TAG>CAG		SubName: Full=DEAD/H box polypeptide 11 like 2;																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							3	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		3	25	0	0	0	0.004672	0	3	25				
DDX18	8886	broad.mit.edu	37	2	118579310	118579310	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:118579310G>A	ENST00000263239.2	+	5	863	c.735G>A	c.(733-735)agG>agA	p.R245R	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	245	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R245R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTAAGTTAAGGTTCATGCCCA	0.423																																							uc002tlh.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)|lung(1)	4						c.(733-735)AGG>AGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							103.0	93.0	97.0					2																	118579310		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118579310G>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.735G>A	2.37:g.118579310G>A							p.R245R	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			5	834	+			245			Helicase ATP-binding.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.735G>A	CCDS2120.1																																																																																				0.423	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		9	35	0	0	0	0.004482	0	9	35				
GLI2	2736	broad.mit.edu	37	2	121747078	121747078	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:121747078G>T	ENST00000452319.1	+	14	3648	c.3588G>T	c.(3586-3588)ggG>ggT	p.G1196G	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.G1196G					GLI family zinc finger 2									p.G1196G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTAGCCCTGGGGGCCTGGACA	0.672																																							uc010flp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(3586-3588)GGG>GGT		GLI-Kruppel family member GLI2							13.0	17.0	16.0					2																	121747078		2184	4256	6440	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747078G>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3588G>T	2.37:g.121747078G>T						GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.G868G|GLI2_uc002tmu.3_Silent_p.G851G	p.G1196G	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	3618	+	Renal(3;0.0496)	Prostate(154;0.0623)	1196						Silent	SNP	ENST00000452319.1	37	c.3588G>T	CCDS33283.1																																																																																				0.672	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		22	32	1	0	1.37657e-19	0.012319	1.85415e-19	22	32				
MAP3K2	10746	broad.mit.edu	37	2	128066163	128066163	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128066163G>C	ENST00000409947.1	-	16	1914	c.1632C>G	c.(1630-1632)atC>atG	p.I544M	MAP3K2_ENST00000344908.5_Missense_Mutation_p.I544M			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.I544M(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AAACCTACCAGATGTCTGCTT	0.453																																							uc002toj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7						c.(1630-1632)ATC>ATG		mitogen-activated protein kinase kinase kinase							236.0	241.0	239.0					2																	128066163		1989	4192	6181	SO:0001583	missense	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128066163G>C	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1632C>G	2.37:g.128066163G>C	ENSP00000387246:p.Ile544Met						p.I544M	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	15	1697	-	Colorectal(110;0.1)		544			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	c.1632C>G	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635441	0.67130	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.27720	1.65;1.65	5.64	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042147	0.85682	D	0.000000	T	0.51312	0.1667	L	0.58669	1.825	0.58432	D	0.999995	D	0.71674	0.998	D	0.73708	0.981	T	0.54879	-0.8227	10	0.87932	D	0	.	14.6097	0.68507	0.0699:0.0:0.9301:0.0	.	544	Q9Y2U5	M3K2_HUMAN	M	544	ENSP00000387246:I544M;ENSP00000343463:I544M	ENSP00000343463:I544M	I	-	3	3	MAP3K2	127782633	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.493000	0.66899	1.393000	0.46605	-0.258000	0.10820	ATC		0.453	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		40	207	0	0	0	0.009718	0	40	207				
WDR33	55339	broad.mit.edu	37	2	128471546	128471546	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128471546C>T	ENST00000322313.4	-	18	3077	c.2919G>A	c.(2917-2919)agG>agA	p.R973R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	973					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R973R(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTCATGCCGCCTCTCTGACA	0.632																																							uc002tpg.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2917-2919)AGG>AGA		WD repeat domain 33 isoform 1							24.0	29.0	27.0					2																	128471546		2199	4293	6492	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471546C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2919G>A	2.37:g.128471546C>T							p.R973R	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3102	-	Colorectal(110;0.1)		973					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2919G>A	CCDS2150.1																																																																																				0.632	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		28	69	0	0	0	0.003755	0	28	69				
POLR2D	5433	broad.mit.edu	37	2	128610524	128610524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:128610524T>A	ENST00000272645.4	-	2	285	c.229A>T	c.(229-231)Aga>Tga	p.R77*	POLR2D_ENST00000409955.1_Nonsense_Mutation_p.R77*|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409698.1_Nonsense_Mutation_p.R39*	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	77					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus in response to heat stress (GO:0031990)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleotide-excision repair (GO:0006289)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex (GO:0034402)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)|translation initiation factor binding (GO:0031369)	p.R77*(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		ATGGTCTCTCTGTTTTTGAAA	0.438																																							uc002tpj.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(229-231)AGA>TGA		DNA directed RNA polymerase II polypeptide D							164.0	160.0	162.0					2																	128610524		2203	4300	6503	SO:0001587	stop_gained	5433				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	g.chr2:128610524T>A	U85510	CCDS2151.1	2q21	2013-01-21			ENSG00000144231	ENSG00000144231		"""RNA polymerase subunits"""	9191	protein-coding gene	gene with protein product	"""RNA polymerase II subunit hsRBP4"""	606017				9528765	Standard	NM_004805		Approved	RBP4	uc002tpj.3	O15514	OTTHUMG00000131531	ENST00000272645.4:c.229A>T	2.37:g.128610524T>A	ENSP00000272645:p.Arg77*					POLR2D_uc002tpk.2_Nonsense_Mutation_p.R77*	p.R77*	NM_004805	NP_004796	O15514	RPB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0675)	2	284	-	Colorectal(110;0.1)		77					Q52LT4	Nonsense_Mutation	SNP	ENST00000272645.4	37	c.229A>T	CCDS2151.1	.	.	.	.	.	.	.	.	.	.	T	32	5.119147	0.94385	.	.	ENSG00000144231	ENST00000272645;ENST00000409955;ENST00000409698	.	.	.	5.43	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.9699	12.6495	0.56753	0.0:0.0:0.2598:0.7402	.	.	.	.	X	77;77;39	.	ENSP00000272645:R77X	R	-	1	2	POLR2D	128326994	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.484000	0.53201	2.057000	0.61298	0.454000	0.30748	AGA		0.438	POLR2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254388.3	NM_004805		23	132	0	0	0	0.00278	0	23	132				
CCDC74B	91409	broad.mit.edu	37	2	130899923	130899923	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:130899923G>A	ENST00000310463.6	-	3	464	c.327C>T	c.(325-327)gcC>gcT	p.A109A	CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000392984.3_Silent_p.A211A|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Intron	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	109								p.A109A(1)		endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					AGGGAGCAGAGGCCCTGGAAA	0.647																																							uc002tqm.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(325-327)GCC>GCT		coiled-coil domain containing 74B							9.0	11.0	10.0					2																	130899923		2160	4211	6371	SO:0001819	synonymous_variant	91409							g.chr2:130899923G>A		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.327C>T	2.37:g.130899923G>A						CCDC74B_uc010yzw.1_Silent_p.A211A|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR	p.A109A	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN			3	389	-	Colorectal(110;0.1)		109					Q6NW18	Silent	SNP	ENST00000310463.6	37	c.327C>T	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	2.977	-0.211238	0.06140	.	.	ENSG00000152076	ENST00000457413	.	.	.	0.875	-0.0728	0.13738	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24548	-1.0157	4	.	.	.	.	3.2527	0.06820	0.3195:0.0:0.6805:0.0	.	.	.	.	F	151	.	.	L	-	1	0	CCDC74B	130616393	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	1.020000	0.30027	-0.051000	0.13334	-0.503000	0.04515	CTC		0.647	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		17	44	0	0	0	0.00278	0	17	44				
CCDC74A	90557	broad.mit.edu	37	2	132288183	132288183	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:132288183C>T	ENST00000295171.6	+	3	465	c.327C>T	c.(325-327)gcC>gcT	p.A109A	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Silent_p.A211A	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	109										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTTCCAGGGCCTCTGCTCCCT	0.642																																							uc002tta.2		NA																	0				skin(1)	1						c.(325-327)GCC>GCT		coiled-coil domain containing 74A							10.0	17.0	15.0					2																	132288183		2100	4235	6335	SO:0001819	synonymous_variant	90557							g.chr2:132288183C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.327C>T	2.37:g.132288183C>T						CCDC74A_uc002ttb.2_Intron	p.A109A	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			3	379	+			109					Q6P4I5	Silent	SNP	ENST00000295171.6	37	c.327C>T	CCDS2167.1																																																																																				0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		9	72	0	0	0	0.00499	0	9	72				
GPR39	2863	broad.mit.edu	37	2	133403100	133403100	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:133403100T>A	ENST00000329321.3	+	2	1752	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	428					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.L428H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATTGAGTCTCGAGTCACTA	0.532																																							uc002ttl.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1282-1284)CTC>CAC		G protein-coupled receptor 39							56.0	61.0	59.0					2																	133403100		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133403100T>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1283T>A	2.37:g.133403100T>A	ENSP00000327417:p.Leu428His					LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	p.L428H	NM_001508	NP_001499	O43194	GPR39_HUMAN			2	1752	+			428			Cytoplasmic (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1283T>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	T	6.327	0.428398	0.11987	.	.	ENSG00000183840	ENST00000329321	T	0.64991	-0.13	4.82	-6.11	0.02131	.	1.771800	0.02427	N	0.083204	T	0.37265	0.0997	N	0.12182	0.205	0.20489	N	0.999893	P	0.45283	0.855	B	0.41723	0.365	T	0.38415	-0.9662	10	0.27785	T	0.31	.	1.9784	0.03421	0.2108:0.3807:0.1151:0.2933	.	428	O43194	GPR39_HUMAN	H	428	ENSP00000327417:L428H	ENSP00000327417:L428H	L	+	2	0	GPR39	133119570	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.162000	0.10012	-1.426000	0.01994	0.397000	0.26171	CTC		0.532	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			34	54	0	0	0	0.003755	0	34	54				
MAP3K19	80122	broad.mit.edu	37	2	135745530	135745530	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:135745530C>G	ENST00000375845.3	-	7	942	c.912G>C	c.(910-912)aaG>aaC	p.K304N	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K321N|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K191N	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	304							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K304N(1)									AGTTTTCCTCCTTCTCCAGGC	0.408																																							uc002tue.1		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(910-912)AAG>AAC		Yeast Sps1/Ste20-related kinase 4 isoform 1							88.0	91.0	90.0					2																	135745530		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745530C>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.912G>C	2.37:g.135745530C>G	ENSP00000365005:p.Lys304Asn					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.K191N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.K32N|YSK4_uc002tui.3_Missense_Mutation_p.K321N	p.K304N	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	943	-			304					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.912G>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	3.381	-0.126316	0.06795	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.70282	-0.47;-0.47;1.89	4.66	0.724	0.18236	.	1.423520	0.04643	N	0.405609	T	0.55401	0.1918	N	0.14661	0.345	0.09310	N	0.999997	B;B;B	0.23806	0.091;0.091;0.055	B;B;B	0.23018	0.019;0.043;0.008	T	0.47341	-0.9125	10	0.46703	T	0.11	.	9.1425	0.36912	0.0:0.523:0.0:0.477	.	191;321;304	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	N	304;191;321	ENSP00000365005:K304N;ENSP00000351140:K191N;ENSP00000376647:K321N	ENSP00000351140:K191N	K	-	3	2	YSK4	135462000	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.356000	0.07661	0.184000	0.20083	0.650000	0.86243	AAG		0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		8	67	0	0	0	0.004482	0	8	67				
CXCR4	7852	broad.mit.edu	37	2	136872465	136872465	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:136872465C>G	ENST00000241393.3	-	2	1137	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.E349Q	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	345					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.E349Q(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CTTGAAGACTCAGACTCAGTG	0.403																																							uc002tuz.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(1033-1035)GAG>CAG		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						142.0	137.0	139.0					2																	136872465		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872465C>G	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.1033G>C	2.37:g.136872465C>G	ENSP00000241393:p.Glu345Gln					CXCR4_uc002tuy.2_Missense_Mutation_p.E349Q|CXCR4_uc010fnk.2_Missense_Mutation_p.E330Q	p.E345Q	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	1128	-			345			Cytoplasmic.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.1033G>C	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156435	0.57259	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.60548	0.18;0.18	5.95	5.95	0.96441	.	0.088360	0.85682	D	0.000000	T	0.64494	0.2603	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.67397	-0.5681	10	0.51188	T	0.08	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	345;349	P61073;P61073-2	CXCR4_HUMAN;.	Q	349;345;215	ENSP00000386884:E349Q;ENSP00000241393:E345Q	ENSP00000241393:E345Q	E	-	1	0	CXCR4	136588935	1.000000	0.71417	0.875000	0.34327	0.962000	0.63368	7.487000	0.81328	2.827000	0.97445	0.650000	0.86243	GAG		0.403	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			111	288	0	0	0	0.01441	0	111	288				
LRP1B	53353	broad.mit.edu	37	2	141773472	141773472	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:141773472C>G	ENST00000389484.3	-	13	2954	c.1983G>C	c.(1981-1983)tgG>tgC	p.W661C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	661					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)	p.W661C(1)		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)		CCCAGTCTGTCCAATACATCC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1981-1983)TGG>TGC		low density lipoprotein-related protein 1B							118.0	116.0	117.0					2																	141773472		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773472C>G	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.1983G>C	2.37:g.141773472C>G	ENSP00000374135:p.Trp661Cys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.W661C	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)	13	2955	-		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)	661			Extracellular (Potential).|LDL-receptor class B 7.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1983G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908980	0.72868	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99789	-6.75	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000002	D	0.99885	0.9945	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96629	0.9465	10	0.87932	D	0	.	20.0534	0.97636	0.0:1.0:0.0:0.0	.	661	Q9NZR2	LRP1B_HUMAN	C	661;599	ENSP00000374135:W661C	ENSP00000374135:W661C	W	-	3	0	LRP1B	141489942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.679000	0.84048	2.807000	0.96579	0.650000	0.86243	TGG		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	63	0	0	0	0.004482	0	9	63				
ZEB2	9839	broad.mit.edu	37	2	145156847	145156847	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:145156847A>T	ENST00000558170.2	-	8	3091	c.1907T>A	c.(1906-1908)tTg>tAg	p.L636*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.L636*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.L636*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.L612*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	636					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.L636*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACAGATGACAAGAGGAGGGC	0.443																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1906-1908)TTG>TAG		zinc finger homeobox 1b							66.0	66.0	66.0					2																	145156847		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156847A>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1907T>A	2.37:g.145156847A>T	ENSP00000454157:p.Leu636*					ZEB2_uc002tvv.2_Nonsense_Mutation_p.L630*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.L607*|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.L665*	p.L636*	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2387	-			636					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.1907T>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025256	0.93518	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	.	.	.	5.75	5.75	0.90469	.	0.324722	0.33290	N	0.005078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1813	16.06	0.80834	1.0:0.0:0.0:0.0	.	.	.	.	X	612;636;636;636	.	ENSP00000302501:L636X	L	-	2	0	ZEB2	144873317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.748000	0.62148	2.184000	0.69523	0.533000	0.62120	TTG		0.443	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		6	60	0	0	0	0.001984	0	6	60				
LYPD6B	130576	broad.mit.edu	37	2	150071151	150071151	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:150071151G>C	ENST00000409029.1	+	7	681	c.479G>C	c.(478-480)aGa>aCa	p.R160T	LYPD6B_ENST00000409876.1_Missense_Mutation_p.R160T|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.R184T|LYPD6B_ENST00000409642.3_Missense_Mutation_p.R184T			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	160						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R184T(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CACGCTCAGAGAACATCTGGC	0.498																																							uc002twv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(550-552)AGA>ACA		LY6/PLAUR domain containing 6B							184.0	184.0	184.0					2																	150071151		2076	4210	6286	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150071151G>C		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.479G>C	2.37:g.150071151G>C	ENSP00000386650:p.Arg160Thr					LYPD6B_uc002tww.1_Missense_Mutation_p.R146T|LYPD6B_uc002twx.1_Missense_Mutation_p.R146T	p.R184T	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN			7	952	+			160					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.551G>C		.	.	.	.	.	.	.	.	.	.	G	19.29	3.799212	0.70567	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.78	5.78	0.91487	.	0.056345	0.64402	D	0.000001	T	0.23133	0.0559	L	0.60455	1.87	0.47341	D	0.999394	P;P	0.46142	0.873;0.873	B;B	0.42361	0.385;0.385	T	0.00649	-1.1627	9	.	.	.	-27.7171	17.5062	0.87746	0.0:0.0:1.0:0.0	.	160;184	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	T	184;160;160;184	ENSP00000387077:R184T;ENSP00000386479:R160T;ENSP00000386650:R160T;ENSP00000280115:R184T	.	R	+	2	0	LYPD6B	149779397	1.000000	0.71417	0.985000	0.45067	0.860000	0.49131	5.382000	0.66213	2.749000	0.94314	0.655000	0.94253	AGA		0.498	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		23	178	0	0	0	0.014323	0	23	178				
KCNJ3	3760	broad.mit.edu	37	2	155555776	155555776	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:155555776C>A	ENST00000295101.2	+	1	966	c.489C>A	c.(487-489)ctC>ctA	p.L163L	KCNJ3_ENST00000544049.1_Silent_p.L163L|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572																																							uc002tyv.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(487-489)CTC>CTA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						105.0	85.0	92.0					2																	155555776		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555776C>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.489C>A	2.37:g.155555776C>A						KCNJ3_uc010zce.1_Silent_p.L163L	p.L163L	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	684	+			163			Helical; Name=M2; (By similarity).		B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.489C>A	CCDS2200.1																																																																																				0.572	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		9	85	1	0	1.12685e-05	0.004482	1.25378e-05	9	85				
DPP4	1803	broad.mit.edu	37	2	162876803	162876803	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:162876803A>T	ENST00000360534.3	-	14	1740	c.1180T>A	c.(1180-1182)Tgc>Agc	p.C394S	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	394					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C394S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATAAATGTGCAGTCCTGATGG	0.323																																							uc002ubz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1180-1182)TGC>AGC		dipeptidylpeptidase IV	Sitagliptin(DB01261)						74.0	71.0	72.0					2																	162876803		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162876803A>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1180T>A	2.37:g.162876803A>T	ENSP00000353731:p.Cys394Ser					DPP4_uc010fpb.2_Missense_Mutation_p.C70S	p.C394S	NM_001935	NP_001926	P27487	DPP4_HUMAN			14	1741	-			394			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1180T>A	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	A	2.539	-0.306808	0.05458	.	.	ENSG00000197635	ENST00000360534	D	0.95588	-3.75	4.79	3.6	0.41247	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.448932	0.25319	N	0.031540	D	0.86435	0.5932	N	0.11313	0.125	0.28572	N	0.910572	B	0.09022	0.002	B	0.10450	0.005	T	0.74833	-0.3530	10	0.14252	T	0.57	-25.5227	6.3965	0.21614	0.7544:0.1619:0.0837:0.0	.	394	P27487	DPP4_HUMAN	S	394	ENSP00000353731:C394S	ENSP00000353731:C394S	C	-	1	0	DPP4	162585049	0.275000	0.24201	0.661000	0.29709	0.183000	0.23260	3.404000	0.52623	1.110000	0.41699	0.533000	0.62120	TGC		0.323	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			4	40	0	0	0	0.009096	0	4	40				
SCN2A	6326	broad.mit.edu	37	2	166211047	166211047	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166211047G>A	ENST00000375437.2	+	17	3555	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1089K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1089K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1089K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1089					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E1089K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCGTGGATGAAAGTGATTA	0.373																																							uc002udc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(3265-3267)GAA>AAA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						113.0	111.0	111.0					2																	166211047		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166211047G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3265G>A	2.37:g.166211047G>A	ENSP00000364586:p.Glu1089Lys					SCN2A_uc002udd.2_Missense_Mutation_p.E1089K|SCN2A_uc002ude.2_Missense_Mutation_p.E1089K	p.E1089K	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			17	3555	+			1089					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3265G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615305	0.87359	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.26	5.26	0.73747	Sodium ion transport-associated (1);	0.095834	0.47093	D	0.000259	D	0.90960	0.7158	M	0.74881	2.28	0.49051	D	0.999748	B;P	0.45634	0.233;0.863	B;P	0.56343	0.16;0.796	D	0.90560	0.4515	10	0.45353	T	0.12	.	18.858	0.92260	0.0:0.0:1.0:0.0	.	1089;1089	Q99250-2;Q99250	.;SCN2A_HUMAN	K	1089	ENSP00000364586:E1089K;ENSP00000349973:E1089K;ENSP00000283256:E1089K;ENSP00000364576:E1089K	ENSP00000283256:E1089K	E	+	1	0	SCN2A	165919293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.626000	0.83164	2.447000	0.82792	0.591000	0.81541	GAA		0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		8	41	0	0	0	0.004482	0	8	41				
SCN2A	6326	broad.mit.edu	37	2	166211143	166211143	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166211143G>A	ENST00000375437.2	+	17	3651	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1121K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1121K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1121K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1121					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E1121K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAATACTGAAGAATTCAGCAG	0.323																																							uc002udc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(3361-3363)GAA>AAA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						63.0	65.0	64.0					2																	166211143		2202	4300	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166211143G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3361G>A	2.37:g.166211143G>A	ENSP00000364586:p.Glu1121Lys					SCN2A_uc002udd.2_Missense_Mutation_p.E1121K|SCN2A_uc002ude.2_Missense_Mutation_p.E1121K	p.E1121K	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			17	3651	+			1121					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3361G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389725	0.82902	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.56	5.56	0.83823	Sodium ion transport-associated (1);	0.168820	0.41712	D	0.000834	D	0.90652	0.7068	M	0.84433	2.695	0.46901	D	0.999241	B;P	0.35050	0.145;0.482	B;P	0.45167	0.071;0.472	D	0.89847	0.4007	10	0.45353	T	0.12	.	19.5385	0.95264	0.0:0.0:1.0:0.0	.	1121;1121	Q99250-2;Q99250	.;SCN2A_HUMAN	K	1121	ENSP00000364586:E1121K;ENSP00000349973:E1121K;ENSP00000283256:E1121K;ENSP00000364576:E1121K	ENSP00000283256:E1121K	E	+	1	0	SCN2A	165919389	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.864000	0.99589	2.623000	0.88846	0.467000	0.42956	GAA		0.323	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		6	32	0	0	0	0.001168	0	6	32				
SCN1A	6323	broad.mit.edu	37	2	166930006	166930006	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:166930006T>A	ENST00000303395.4	-	1	125	c.126A>T	c.(124-126)aaA>aaT	p.K42N	SCN1A_ENST00000423058.2_Missense_Mutation_p.K42N|SCN1A_ENST00000375405.3_Missense_Mutation_p.K42N|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K42N|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	42					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.K42N(4)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTCGTCATCTTTTTTGTCTG	0.443																																							uc010zcz.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(6)|large_intestine(1)	13						c.(124-126)AAA>AAT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						285.0	271.0	276.0					2																	166930006		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166930006T>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.126A>T	2.37:g.166930006T>A	ENSP00000303540:p.Lys42Asn						p.K42N	NM_006920	NP_008851	P35498	SCN1A_HUMAN			1	144	-			42					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.126A>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.982892	0.53827	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96300	-3.97;-3.97;-3.92;-3.9	5.3	5.3	0.74995	.	0.595032	0.16624	N	0.206376	D	0.95443	0.8520	L	0.47716	1.5	0.34679	D	0.724467	B	0.26002	0.139	B	0.38428	0.273	D	0.97332	0.9951	10	0.54805	T	0.06	.	14.7061	0.69191	0.0:0.0:0.0:1.0	.	42	P35498-2	.	N	42	ENSP00000407030:K42N;ENSP00000303540:K42N;ENSP00000364554:K42N;ENSP00000386312:K42N	ENSP00000303540:K42N	K	-	3	2	SCN1A	166638252	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.222000	0.32515	2.129000	0.65627	0.383000	0.25322	AAA		0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		119	107	0	0	0	0.01441	0	119	107				
XIRP2	129446	broad.mit.edu	37	2	168106754	168106754	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:168106754G>T	ENST00000409195.1	+	9	8941	c.8852G>T	c.(8851-8853)cGt>cTt	p.R2951L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2729L|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2951L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2776					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R2951L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAGAAAACGTGAAGAACTG	0.373																																							uc002udx.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(8851-8853)CGT>CTT		xin actin-binding repeat containing 2 isoform 1							93.0	90.0	91.0					2																	168106754		1827	4087	5914	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106754G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8852G>T	2.37:g.168106754G>T	ENSP00000386840:p.Arg2951Leu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2776L|XIRP2_uc010fpq.2_Missense_Mutation_p.R2729L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R297L	p.R2951L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8870	+			2776			Potential.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8852G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990353	0.74589	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03065	4.06;4.06;4.06	6.02	6.02	0.97574	.	0.225933	0.38272	N	0.001758	T	0.16342	0.0393	M	0.67953	2.075	0.41461	D	0.988048	D;D;D	0.64830	0.99;0.994;0.994	P;P;D	0.62955	0.754;0.875;0.909	T	0.00019	-1.2361	10	0.44086	T	0.13	-11.3813	19.3122	0.94192	0.0:0.0:1.0:0.0	.	2776;2776;2729	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	2951;2951;2729;365	ENSP00000386840:R2951L;ENSP00000295237:R2951L;ENSP00000387255:R2729L	ENSP00000295237:R2951L	R	+	2	0	XIRP2	167815000	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.838000	0.55828	2.865000	0.98341	0.655000	0.94253	CGT		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		47	41	1	0	4.10826e-27	0.01441	5.67573e-27	47	41				
LRP2	4036	broad.mit.edu	37	2	170112651	170112651	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:170112651T>A	ENST00000263816.3	-	19	3020	c.2735A>T	c.(2734-2736)cAg>cTg	p.Q912L	LRP2_ENST00000443831.1_Missense_Mutation_p.Q775L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	912					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Q912L(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATGTGTCATCTGCTCTATATG	0.363																																							uc002ues.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2734-2736)CAG>CTG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						111.0	104.0	106.0					2																	170112651		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170112651T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2735A>T	2.37:g.170112651T>A	ENSP00000263816:p.Gln912Leu					LRP2_uc010zdf.1_Missense_Mutation_p.Q775L	p.Q912L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	19	2948	-			912			LDL-receptor class B 9.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2735A>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821342	0.71028	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.90844	-2.74;-2.74	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.116310	0.64402	D	0.000013	D	0.91730	0.7385	L	0.41906	1.305	0.58432	D	0.999999	D;D	0.76494	0.999;0.994	D;D	0.85130	0.997;0.985	D	0.88185	0.2873	10	0.06891	T	0.86	.	15.6286	0.76882	0.0:0.0:0.0:1.0	.	775;912	E9PC35;P98164	.;LRP2_HUMAN	L	912;775	ENSP00000263816:Q912L;ENSP00000409813:Q775L	ENSP00000263816:Q912L	Q	-	2	0	LRP2	169820897	1.000000	0.71417	0.968000	0.41197	0.885000	0.51271	7.768000	0.85345	2.096000	0.63516	0.482000	0.46254	CAG		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		23	23	0	0	0	0.00333	0	23	23				
GAD1	2571	broad.mit.edu	37	2	171715359	171715359	+	Missense_Mutation	SNP	A	A	T	rs34236419		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:171715359A>T	ENST00000358196.3	+	16	2117	c.1567A>T	c.(1567-1569)Agg>Tgg	p.R523W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	523					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)	p.R523W(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ACAAAGCCTCAGGGGTGTGCC	0.438																																							uc002ugi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1567-1569)AGG>TGG		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						84.0	86.0	85.0					2																	171715359		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171715359A>T		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.1567A>T	2.37:g.171715359A>T	ENSP00000350928:p.Arg523Trp					GAD1_uc010fqc.2_Missense_Mutation_p.R142W	p.R523W	NM_000817	NP_000808	Q99259	DCE1_HUMAN			16	1989	+			523					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1567A>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193209	0.78902	.	.	ENSG00000128683	ENST00000358196	T	0.20598	2.06	5.53	1.65	0.23941	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.62072	-0.6931	10	0.87932	D	0	-18.6514	13.0873	0.59149	0.6016:0.3984:0.0:0.0	.	523	Q99259	DCE1_HUMAN	W	523	ENSP00000350928:R523W	ENSP00000350928:R523W	R	+	1	2	GAD1	171423605	0.753000	0.28349	0.996000	0.52242	0.989000	0.77384	1.473000	0.35387	0.033000	0.15463	-0.291000	0.09656	AGG		0.438	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			17	15	0	0	0	0.006122	0	17	15				
WIPF1	7456	broad.mit.edu	37	2	175436880	175436880	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:175436880G>C	ENST00000392547.2	-	5	752	c.653C>G	c.(652-654)aCt>aGt	p.T218S	WIPF1_ENST00000409891.1_Missense_Mutation_p.T218S|WIPF1_ENST00000409415.3_Missense_Mutation_p.T218S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.T218S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.T218S|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000272746.5_Missense_Mutation_p.T218S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	218					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.T218S(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGGGGGAGGAGTGGGCCCGGG	0.657																																							uc002uiy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(652-654)ACT>AGT		WAS/WASL interacting protein family, member 1							27.0	35.0	32.0					2																	175436880		2196	4294	6490	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436880G>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.653C>G	2.37:g.175436880G>C	ENSP00000376330:p.Thr218Ser					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T218S|WIPF1_uc010fqt.1_Missense_Mutation_p.T218S|WIPF1_uc002ujc.1_Missense_Mutation_p.T218S|WIPF1_uc002uiz.2_Missense_Mutation_p.T218S|WIPF1_uc002ujb.1_Missense_Mutation_p.T218S|WIPF1_uc010zep.1_Missense_Mutation_p.T218S	p.T218S	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	985	-			218					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.653C>G	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.311929	0.01342	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.43294	1.56;1.56;1.56;1.56;0.99;0.95	4.1	3.22	0.36961	.	0.328154	0.31734	N	0.007159	T	0.31167	0.0788	L	0.43152	1.355	0.29424	N	0.860346	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.09377	0.004;0.002;0.004;0.001	T	0.23297	-1.0192	10	0.12103	T	0.63	.	11.2632	0.49095	0.0917:0.0:0.9083:0.0	.	218;218;218;218	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	218	ENSP00000376330:T218S;ENSP00000272746:T218S;ENSP00000352802:T218S;ENSP00000376329:T218S;ENSP00000386431:T218S;ENSP00000387150:T218S	ENSP00000272746:T218S	T	-	2	0	WIPF1	175145126	0.129000	0.22400	0.001000	0.08648	0.050000	0.14768	2.420000	0.44679	0.713000	0.32060	0.511000	0.50034	ACT		0.657	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		12	106	0	0	0	0.00245	0	12	106				
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:175614714C>A	ENST00000261007.5	-	8	1103	c.1037G>T	c.(1036-1038)cGc>cTc	p.R346L	CHRNA1_ENST00000348749.5_Missense_Mutation_p.R321L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239L|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GCTGGGTGAGCGGTGGTGTGT	0.557																																							uc002ujd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1036-1038)CGC>CTC		nicotinic cholinergic receptor alpha 1 isoform a							171.0	133.0	146.0					2																	175614714		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175614714C>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1037G>T	2.37:g.175614714C>A	ENSP00000261007:p.Arg346Leu					uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.R321L	p.R346L	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			8	1115	-			346			Cytoplasmic.		B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.1037G>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434206	0.83776	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049415	0.85682	D	0.000000	D	0.96037	0.8709	M	0.92268	3.29	0.80722	D	1	D;P	0.89917	1.0;0.943	D;P	0.97110	1.0;0.797	D	0.96784	0.9577	10	0.87932	D	0	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	321;346	Q53SH4;P02708	.;ACHA_HUMAN	L	321;346;239;321	ENSP00000261008:R321L;ENSP00000261007:R346L;ENSP00000387026:R239L;ENSP00000386611:R321L	ENSP00000261007:R346L	R	-	2	0	CHRNA1	175322960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.815000	0.86186	2.527000	0.85204	0.655000	0.94253	CGC		0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			49	52	1	0	4.0306e-16	0.01441	5.32039e-16	49	52				
TTN	7273	broad.mit.edu	37	2	179396241	179396241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179396241C>T	ENST00000591111.1	-	308	100402	c.100178G>A	c.(100177-100179)gGg>gAg	p.G33393E	TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26094E|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G25969E|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26161E|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32466E|TTN_ENST00000589042.1_Missense_Mutation_p.G35034E|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33393					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)	p.G26094E(2)|p.G32464E(2)|p.G32466E(2)|p.G25969E(2)|p.G26161E(2)		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)			GGTATAATCCCCTCCTGTCAC	0.493																																							uc010zfg.1		NA																	10	Substitution - Missense(10)		lung(10)	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.(97396-97398)GGG>GAG		titin isoform N2-A							122.0	122.0	122.0					2																	179396241		1996	4172	6168	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396241C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100178G>A	2.37:g.179396241C>T	ENSP00000465570:p.Gly33393Glu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G26161E|TTN_uc010zfi.1_Missense_Mutation_p.G26094E|TTN_uc010zfj.1_Missense_Mutation_p.G25969E|TTN_uc002umq.2_5'Flank	p.G32466E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97621	-			33393					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.97397G>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.953936	0.73902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62941	-0.01;0.21;0.19;0.18	5.56	5.56	0.83823	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.69975	0.3171	N	0.24115	0.695	0.52501	D	0.999954	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.72075	0.941;0.941;0.941;0.976	T	0.73972	-0.3814	9	0.87932	D	0	.	19.5233	0.95194	0.0:1.0:0.0:0.0	.	25969;26094;26161;33393	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	32466;25969;26161;26094;25966	ENSP00000343764:G32466E;ENSP00000434586:G25969E;ENSP00000340554:G26161E;ENSP00000352154:G26094E	ENSP00000340554:G26161E	G	-	2	0	TTN	179104487	1.000000	0.71417	0.879000	0.34478	0.969000	0.65631	6.093000	0.71422	2.615000	0.88500	0.650000	0.86243	GGG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	43	0	0	0	0.004878	0	38	43				
TTN	7273	broad.mit.edu	37	2	179407526	179407526	+	Missense_Mutation	SNP	C	C	A	rs575939045	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179407526C>A	ENST00000591111.1	-	298	92356	c.92132G>T	c.(92131-92133)cGt>cTt	p.R30711L	TTN_ENST00000359218.5_Missense_Mutation_p.R23412L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23287L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23479L|TTN_ENST00000342992.6_Missense_Mutation_p.R29784L|TTN_ENST00000589042.1_Missense_Mutation_p.R32352L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30711	Ig-like 138.				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)	p.R23287L(1)|p.R29784L(1)|p.R23479H(1)|p.R29782H(1)|p.R23412L(1)|p.R23479L(1)|p.R29782L(1)		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)			AACTGTGACACGCTCTGATTC	0.458																																							uc010zfg.1		NA																	7	Substitution - Missense(7)		lung(5)|upper_aerodigestive_tract(2)	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.(89350-89352)CGT>CTT		titin isoform N2-A							205.0	196.0	199.0					2																	179407526		1968	4154	6122	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407526C>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.92132G>T	2.37:g.179407526C>A	ENSP00000465570:p.Arg30711Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23479L|TTN_uc010zfi.1_Missense_Mutation_p.R23412L|TTN_uc010zfj.1_Missense_Mutation_p.R23287L	p.R29784L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		297	89575	-			30711					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.89351G>T		.	.	.	.	.	.	.	.	.	.	C	22.4	4.279159	0.80692	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72692	0.3492	M	0.80183	2.485	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	T	0.75531	-0.3285	9	0.87932	D	0	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	23287;23412;23479;30711	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	29784;23287;23479;23412;23284	ENSP00000343764:R29784L;ENSP00000434586:R23287L;ENSP00000340554:R23479L;ENSP00000352154:R23412L	ENSP00000340554:R23479L	R	-	2	0	TTN	179115772	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	CGT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	122	1	0	7.81268e-19	0.00499	1.0494e-18	18	122				
TTN	7273	broad.mit.edu	37	2	179451993	179451993	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179451993G>T	ENST00000591111.1	-	257	59246	c.59022C>A	c.(59020-59022)acC>acA	p.T19674T	TTN_ENST00000359218.5_Silent_p.T12375T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T12250T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.T12442T|TTN_ENST00000342992.6_Silent_p.T18747T|TTN_ENST00000589042.1_Silent_p.T21315T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19674	Fibronectin type-III 42. {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)	p.T18747T(1)|p.T12250T(1)|p.T18745T(1)|p.T12442T(1)|p.T12375T(1)		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)			CTGGGGTAACGGTCGACCATG	0.488																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	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.(56239-56241)ACC>ACA		titin isoform N2-A							119.0	118.0	119.0					2																	179451993		1936	4132	6068	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451993G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59022C>A	2.37:g.179451993G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T12442T|TTN_uc010zfi.1_Silent_p.T12375T|TTN_uc010zfj.1_Silent_p.T12250T	p.T18747T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		256	56465	-			19674					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.56241C>A																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	68	1	0	0.00136819	0.013537	0.00143231	13	68				
TTN	7273	broad.mit.edu	37	2	179516838	179516838	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179516838T>A	ENST00000591111.1	-	159	34983	c.34759A>T	c.(34759-34761)Agt>Tgt	p.S11587C	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S10660C|TTN_ENST00000589042.1_Missense_Mutation_p.S13094C|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11587	Glu-rich.|Pro-rich.				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)	p.S10660C(2)		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)			GGGGGAGGACTTTCCGGTTTG	0.348																																							uc010zfg.1		NA																	2	Substitution - Missense(2)		lung(2)	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.(31978-31980)AGT>TGT		titin isoform N2-A							90.0	87.0	88.0					2																	179516838		1815	4073	5888	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516838T>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.34759A>T	2.37:g.179516838T>A	ENSP00000465570:p.Ser11587Cys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	p.S10660C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		158	32202	-			11587					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.31978A>T		.	.	.	.	.	.	.	.	.	.	T	10.98	1.503176	0.26949	.	.	ENSG00000155657	ENST00000342992	T	0.64991	-0.13	5.0	5.0	0.66597	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57095	0.2030	L	0.59436	1.845	0.80722	D	1	B	0.28512	0.214	B	0.34038	0.174	T	0.62020	-0.6942	9	0.87932	D	0	.	5.3704	0.16136	0.0:0.1519:0.1531:0.695	.	11587	Q8WZ42	TITIN_HUMAN	C	10660	ENSP00000343764:S10660C	ENSP00000343764:S10660C	S	-	1	0	TTN	179225083	0.000000	0.05858	1.000000	0.80357	0.855000	0.48748	-0.019000	0.12546	2.015000	0.59207	0.528000	0.53228	AGT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	83	0	0	0	0.00278	0	22	83				
TTN	7273	broad.mit.edu	37	2	179575833	179575833	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179575833T>G	ENST00000591111.1	-	95	27403	c.27179A>C	c.(27178-27180)aAc>aCc	p.N9060T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N8133T|TTN_ENST00000589042.1_Missense_Mutation_p.N9377T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13198	Ig-like 73.				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)			GCCTATAGGGTTTGTAGCTGT	0.383																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(24397-24399)AAC>ACC		titin isoform N2-A							90.0	90.0	90.0					2																	179575833		1828	4080	5908	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575833T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27179A>C	2.37:g.179575833T>G	ENSP00000465570:p.Asn9060Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4794T	p.N8133T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	24622	-			9060					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.24398A>C		.	.	.	.	.	.	.	.	.	.	T	16.16	3.044964	0.55110	.	.	ENSG00000155657	ENST00000342992	T	0.59364	0.27	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83543	0.5277	H	0.95224	3.64	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.88441	0.3042	9	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	9060	Q8WZ42	TITIN_HUMAN	T	8133	ENSP00000343764:N8133T	ENSP00000343764:N8133T	N	-	2	0	TTN	179284078	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.672000	0.83956	2.324000	0.78689	0.533000	0.62120	AAC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	106	0	0	0	0.001168	0	5	106				
TTN	7273	broad.mit.edu	37	2	179596652	179596652	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179596652C>A	ENST00000591111.1	-	56	16223	c.15999G>T	c.(15997-15999)aaG>aaT	p.K5333N	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K4406N|TTN_ENST00000589042.1_Missense_Mutation_p.K5650N|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12153	Ig-like 34.				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)	p.K4406N(2)		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)			CATCGTACTCCTTTAAGACTT	0.433																																							uc010zfg.1		NA																	2	Substitution - Missense(2)		lung(2)	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.(13216-13218)AAG>AAT		titin isoform N2-A							87.0	89.0	88.0					2																	179596652		2007	4193	6200	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596652C>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.15999G>T	2.37:g.179596652C>A	ENSP00000465570:p.Lys5333Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1067N	p.K4406N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		55	13442	-			5333					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.13218G>T		.	.	.	.	.	.	.	.	.	.	C	8.695	0.908453	0.17833	.	.	ENSG00000155657	ENST00000342992	T	0.42131	0.98	6.17	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47040	0.1424	M	0.65975	2.015	0.80722	D	1	B	0.31459	0.324	B	0.42319	0.383	T	0.49194	-0.8965	9	0.87932	D	0	.	8.6956	0.34293	0.0:0.5336:0.0:0.4664	.	5333	Q8WZ42	TITIN_HUMAN	N	4406	ENSP00000343764:K4406N	ENSP00000343764:K4406N	K	-	3	2	TTN	179304897	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.476000	0.22180	0.487000	0.27698	0.655000	0.94253	AAG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	64	1	0	1.67942e-08	0.006122	2.01031e-08	18	64				
TTN	7273	broad.mit.edu	37	2	179599169	179599169	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179599169A>T	ENST00000591111.1	-	50	14655	c.14431T>A	c.(14431-14433)Tct>Act	p.S4811T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S3884T|TTN_ENST00000589042.1_Missense_Mutation_p.S5128T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12192	Ig-like 28.				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)	p.S3884T(2)		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)			CACACAAGAGACTTCTGAGAA	0.393																																							uc010zfg.1		NA																	2	Substitution - Missense(2)		lung(2)	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.(11650-11652)TCT>ACT		titin isoform N2-A							145.0	137.0	140.0					2																	179599169		1864	4106	5970	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599169A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14431T>A	2.37:g.179599169A>T	ENSP00000465570:p.Ser4811Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S545T	p.S3884T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11874	-			4811					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.11650T>A		.	.	.	.	.	.	.	.	.	.	A	10.24	1.295089	0.23564	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	5.86	3.37	0.38596	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53061	0.1773	L	0.33293	1	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.47649	-0.9101	9	0.87932	D	0	.	8.2646	0.31806	0.6141:0.2646:0.0:0.1213	.	4811	Q8WZ42	TITIN_HUMAN	T	3884	ENSP00000343764:S3884T	ENSP00000343764:S3884T	S	-	1	0	TTN	179307414	0.805000	0.28982	0.960000	0.40013	0.997000	0.91878	1.078000	0.30754	0.419000	0.25927	0.460000	0.39030	TCT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	67	0	0	0	0.012319	0	23	67				
TTN	7273	broad.mit.edu	37	2	179612234	179612234	+	Intron	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179612234G>C	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P4965A|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			TCAGACTCAGGAGAAAGTGGA	0.393																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14893-14895)CCT>GCT		titin isoform novex-3							124.0	121.0	122.0					2																	179612234		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612234G>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.10361-5586C>G	2.37:g.179612234G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.P4965A	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15117	-			1082					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.14893C>G		.	.	.	.	.	.	.	.	.	.	G	16.11	3.029594	0.54790	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	D	0.85955	-2.05	5.79	5.79	0.91817	.	.	.	.	.	D	0.91119	0.7204	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90026	0.4131	9	0.46703	T	0.11	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	4965	Q8WZ42-6	.	A	4965;279	ENSP00000354117:P4965A	ENSP00000304714:P279A	P	-	1	0	TTN	179320479	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.357000	0.97099	2.733000	0.93635	0.655000	0.94253	CCT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	74	0	0	0	0.008291	0	11	74				
TTN	7273	broad.mit.edu	37	2	179640848	179640848	+	Missense_Mutation	SNP	C	C	G	rs375388374		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179640848C>G	ENST00000591111.1	-	28	5967	c.5743G>C	c.(5743-5745)Gaa>Caa	p.E1915Q	TTN_ENST00000359218.5_Missense_Mutation_p.E1869Q|TTN_ENST00000460472.2_Missense_Mutation_p.E1869Q|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1869Q|TTN_ENST00000342992.6_Missense_Mutation_p.E1915Q|TTN_ENST00000589042.1_Missense_Mutation_p.E1915Q|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1915Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12752	Ig-like 9.				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)	p.E1915Q(3)|p.E1869Q(3)		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)			TCAGGATTTTCCGCGGTGACC	0.463																																							uc010zfg.1		NA																	6	Substitution - Missense(6)		lung(6)	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.(5743-5745)GAA>CAA		titin isoform N2-A							214.0	213.0	213.0					2																	179640848		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640848C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5743G>C	2.37:g.179640848C>G	ENSP00000465570:p.Glu1915Gln					TTN_uc010zfh.1_Missense_Mutation_p.E1869Q|TTN_uc010zfi.1_Missense_Mutation_p.E1869Q|TTN_uc010zfj.1_Missense_Mutation_p.E1869Q|TTN_uc002unb.2_Missense_Mutation_p.E1915Q|uc002unc.1_5'Flank	p.E1915Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5967	-			1915					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.5743G>C		.	.	.	.	.	.	.	.	.	.	C	12.57	1.977905	0.34942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76300	0.3968	L	0.39566	1.225	0.39046	D	0.96022	D;D;D;D;D	0.89917	0.989;0.989;0.997;0.998;1.0	P;P;D;D;D	0.71870	0.904;0.904;0.939;0.966;0.975	T	0.80256	-0.1458	9	0.87932	D	0	.	18.5142	0.90930	0.0:1.0:0.0:0.0	.	1869;1869;1869;1915;1915	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1915;1869;1869;1869;1869;1915	ENSP00000343764:E1915Q;ENSP00000434586:E1869Q;ENSP00000340554:E1869Q;ENSP00000352154:E1869Q;ENSP00000354117:E1915Q	ENSP00000340554:E1869Q	E	-	1	0	TTN	179349093	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.779000	0.85648	2.385000	0.81259	0.609000	0.83330	GAA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	221	0	0	0	0.003755	0	36	221				
TTN	7273	broad.mit.edu	37	2	179641721	179641721	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:179641721C>A	ENST00000591111.1	-	28	5094	c.4870G>T	c.(4870-4872)Gat>Tat	p.D1624Y	TTN_ENST00000359218.5_Missense_Mutation_p.D1578Y|TTN_ENST00000460472.2_Missense_Mutation_p.D1578Y|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D1578Y|TTN_ENST00000342992.6_Missense_Mutation_p.D1624Y|TTN_ENST00000589042.1_Missense_Mutation_p.D1624Y|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D1624Y|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12477	Ig-like 7.				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)	p.D1578Y(6)|p.D1624Y(6)		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)			CAGGCAGAATCTTGGCTGACA	0.423																																							uc010zfg.1		NA																	12	Substitution - Missense(12)		lung(12)	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.(4870-4872)GAT>TAT		titin isoform N2-A							62.0	66.0	65.0					2																	179641721		2202	4300	6502	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641721C>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.4870G>T	2.37:g.179641721C>A	ENSP00000465570:p.Asp1624Tyr					TTN_uc010zfh.1_Missense_Mutation_p.D1578Y|TTN_uc010zfi.1_Missense_Mutation_p.D1578Y|TTN_uc010zfj.1_Missense_Mutation_p.D1578Y|TTN_uc002unb.2_Missense_Mutation_p.D1624Y|uc002unc.1_RNA	p.D1624Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5094	-			1624					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.4870G>T		.	.	.	.	.	.	.	.	.	.	C	12.50	1.957939	0.34565	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94072	0.8100	H	0.97240	3.965	0.48696	D	0.999697	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.95385	0.8476	9	0.87932	D	0	.	20.273	0.98481	0.0:1.0:0.0:0.0	.	1578;1578;1578;1624;1624	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	1624;1578;1578;1578;1578;1624	ENSP00000343764:D1624Y;ENSP00000434586:D1578Y;ENSP00000340554:D1578Y;ENSP00000352154:D1578Y;ENSP00000354117:D1624Y	ENSP00000340554:D1578Y	D	-	1	0	TTN	179349966	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.757000	0.85209	2.804000	0.96469	0.650000	0.86243	GAT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	37	1	0	7.92952e-12	0.003954	1.00032e-11	27	37				
ZNF804A	91752	broad.mit.edu	37	2	185801543	185801543	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:185801543G>C	ENST00000302277.6	+	4	2014	c.1420G>C	c.(1420-1422)Gat>Cat	p.D474H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	474							metal ion binding (GO:0046872)	p.D474H(2)|p.D474N(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						TAATAATCTAGATAAAAATAA	0.343																																							uc002uph.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1420-1422)GAT>CAT		zinc finger protein 804A							61.0	65.0	64.0					2																	185801543		2202	4299	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801543G>C	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.1420G>C	2.37:g.185801543G>C	ENSP00000303252:p.Asp474His						p.D474H	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2014	+			474					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1420G>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971405	0.34754	.	.	ENSG00000170396	ENST00000302277	T	0.07567	3.18	5.69	2.89	0.33648	.	0.432373	0.21837	N	0.068392	T	0.09423	0.0232	M	0.62723	1.935	0.23542	N	0.997456	P	0.41265	0.744	B	0.36808	0.233	T	0.15665	-1.0429	10	0.72032	D	0.01	-3.8118	8.0701	0.30685	0.0729:0.0:0.6471:0.2801	.	474	Q7Z570	Z804A_HUMAN	H	474	ENSP00000303252:D474H	ENSP00000303252:D474H	D	+	1	0	ZNF804A	185509788	0.983000	0.35010	0.806000	0.32338	0.937000	0.57800	1.862000	0.39448	0.324000	0.23333	0.655000	0.94253	GAT		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		31	28	0	0	0	0.008361	0	31	28				
COL3A1	1281	broad.mit.edu	37	2	189839268	189839268	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:189839268C>A	ENST00000304636.3	+	1	223	c.53C>A	c.(52-54)cCc>cAc	p.P18H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P18H	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	18					aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P18H(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CTGCTTCATCCCACTATTATT	0.408																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(52-54)CCC>CAC		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						122.0	118.0	120.0					2																	189839268		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189839268C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.53C>A	2.37:g.189839268C>A	ENSP00000304408:p.Pro18His						p.P18H	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		1	170	+			18					D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.53C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001255	0.54254	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.90261	-2.5;-2.64	5.68	5.68	0.88126	.	0.170621	0.27886	N	0.017441	D	0.91520	0.7322	L	0.29908	0.895	0.43924	D	0.996579	D	0.71674	0.998	P	0.60173	0.87	D	0.89965	0.4089	10	0.31617	T	0.26	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	18	P02461	CO3A1_HUMAN	H	18	ENSP00000304408:P18H;ENSP00000315243:P18H	ENSP00000304408:P18H	P	+	2	0	COL3A1	189547513	1.000000	0.71417	0.996000	0.52242	0.845000	0.48019	5.760000	0.68793	2.688000	0.91661	0.563000	0.77884	CCC		0.408	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		7	40	1	0	0.00307968	0.00308	0.00319864	7	40				
COL3A1	1281	broad.mit.edu	37	2	189866142	189866142	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:189866142G>T	ENST00000304636.3	+	33	2473	c.2303G>T	c.(2302-2304)gGt>gTt	p.G768V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G768V	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	768	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGTCCTATTGGTCCTCCTGGC	0.368																																							uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2302-2304)GGT>GTT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						68.0	75.0	73.0					2																	189866142		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189866142G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2303G>T	2.37:g.189866142G>T	ENSP00000304408:p.Gly768Val						p.G768V	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		33	2420	+			768			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2303G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789669	0.70337	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.53;-5.77	5.38	5.38	0.77491	.	0.000000	0.47455	D	0.000239	D	0.99651	0.9871	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97712	1.0191	10	0.87932	D	0	.	19.4945	0.95067	0.0:0.0:1.0:0.0	.	768	P02461	CO3A1_HUMAN	V	768	ENSP00000304408:G768V;ENSP00000315243:G768V	ENSP00000304408:G768V	G	+	2	0	COL3A1	189574387	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.694000	0.91930	0.557000	0.71058	GGT		0.368	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		6	69	1	0	3.59834e-05	0.001168	3.94026e-05	6	69				
DNAH7	56171	broad.mit.edu	37	2	196664137	196664137	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:196664137T>A	ENST00000312428.6	-	55	10336	c.10236A>T	c.(10234-10236)ccA>ccT	p.P3412P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3412	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.P3412P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAAGGGGGGTGGTTCAATGA	0.428																																							uc002utj.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(10234-10236)CCA>CCT		dynein, axonemal, heavy chain 7							109.0	110.0	110.0					2																	196664137		1878	4110	5988	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196664137T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10236A>T	2.37:g.196664137T>A							p.P3412P	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			55	10337	-			3412			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.10236A>T	CCDS42794.1																																																																																				0.428	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	91	0	0	0	0.013537	0	12	91				
ANKRD44	91526	broad.mit.edu	37	2	198051794	198051794	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198051794C>G	ENST00000409153.1	-	2	246	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	ANKRD44_ENST00000282272.8_Missense_Mutation_p.E14Q|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000328737.2_5'UTR|ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000409919.1_Missense_Mutation_p.E22Q			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	22								p.E22Q(4)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGATCTCCTCTGGATCACCG	0.443																																							uc002uuc.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(1)	5						c.(64-66)GAG>CAG		ankyrin repeat domain 44							171.0	170.0	170.0					2																	198051794		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:198051794C>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.64G>C	2.37:g.198051794C>G	ENSP00000387141:p.Glu22Gln					ANKRD44_uc002uua.1_5'UTR|ANKRD44_uc002uub.2_Missense_Mutation_p.E22Q|ANKRD44_uc010zgw.1_5'UTR|ANKRD44_uc002uud.1_Missense_Mutation_p.E22Q	p.E22Q	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		2	231	-			22			ANK 1.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000409153.1	37	c.64G>C		.	.	.	.	.	.	.	.	.	.	C	14.58	2.578956	0.46006	.	.	ENSG00000065413	ENST00000282272;ENST00000409153;ENST00000409919	T;T;T	0.68479	-0.33;2.16;-0.33	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.76564	0.4005	M	0.64676	1.99	0.80722	D	1	P;P	0.46277	0.875;0.844	P;B	0.56474	0.799;0.206	T	0.76661	-0.2877	9	0.51188	T	0.08	.	16.3396	0.83078	0.0:1.0:0.0:0.0	.	22;22	Q8N8A2;Q8N8A2-3	ANR44_HUMAN;.	Q	14;22;22	ENSP00000282272:E14Q;ENSP00000387141:E22Q;ENSP00000387233:E22Q	ENSP00000282272:E14Q	E	-	1	0	ANKRD44	197760039	1.000000	0.71417	0.989000	0.46669	0.407000	0.30961	5.896000	0.69822	2.708000	0.92522	0.650000	0.86243	GAG		0.443	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		34	124	0	0	0	0.012213	0	34	124				
MOB4	25843	broad.mit.edu	37	2	198400314	198400314	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198400314G>A	ENST00000323303.4	+	3	439	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000448447.2_Missense_Mutation_p.E41K|MOB4_ENST00000409360.1_Missense_Mutation_p.E30K|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.E98K|MOB4_ENST00000233892.4_Missense_Mutation_p.E30K	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	62					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.E62K(2)									TGAACCACCTGAAGGCCAAGA	0.318																																							uc002uun.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(184-186)GAA>AAA		Mps One Binder kinase activator-like 3 isoform							127.0	132.0	130.0					2																	198400314		2203	4299	6502	SO:0001583	missense	25843				transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding	g.chr2:198400314G>A	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.184G>A	2.37:g.198400314G>A	ENSP00000315702:p.Glu62Lys					MOBKL3_uc002uum.3_Missense_Mutation_p.E30K|MOBKL3_uc010fsn.2_Missense_Mutation_p.E41K|MOBKL3_uc010fso.2_Intron|MOBKL3_uc010zgz.1_5'UTR	p.E62K	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Epithelial(96;0.225)		3	224	+			62					B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.184G>A	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789722	0.70337	.	.	ENSG00000115540	ENST00000233892;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	L	0.60845	1.875	0.80722	D	1	B;B	0.20459	0.036;0.045	B;B	0.23150	0.026;0.044	T	0.62378	-0.6867	9	0.36615	T	0.2	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	41;62	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	K	30;62;41;30	.	ENSP00000233892:E30K	E	+	1	0	PHOCN	198108559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.737000	0.98831	2.483000	0.83821	0.460000	0.39030	GAA		0.318	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		53	51	0	0	0	0.01441	0	53	51				
PLCL1	5334	broad.mit.edu	37	2	198953721	198953721	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:198953721C>T	ENST00000428675.1	+	3	3253	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	PLCL1_ENST00000437704.2_Missense_Mutation_p.P854L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	952					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.P854L(2)|p.P952L(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACAGCTTTCCTTACCTGGAG	0.453																																							uc010fsp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(2854-2856)CCT>CTT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						186.0	184.0	185.0					2																	198953721		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198953721C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2855C>T	2.37:g.198953721C>T	ENSP00000402861:p.Pro952Leu					PLCL1_uc002uuv.3_Missense_Mutation_p.P873L	p.P952L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			3	3146	+			952					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2855C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568341	0.86439	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.20069	2.1;2.16	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000017	T	0.52581	0.1743	M	0.84683	2.71	0.80722	D	1	D;D	0.76494	0.999;0.974	D;P	0.75484	0.986;0.688	T	0.56420	-0.7982	9	.	.	.	.	18.7752	0.91908	0.0:1.0:0.0:0.0	.	952;878	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	952;854	ENSP00000402861:P952L;ENSP00000414138:P854L	.	P	+	2	0	PLCL1	198661966	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.905000	0.69893	2.661000	0.90470	0.650000	0.86243	CCT		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		57	74	0	0	0	0.01441	0	57	74				
CFLAR	8837	broad.mit.edu	37	2	201994633	201994633	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:201994633A>C	ENST00000309955.3	+	2	560	c.45A>C	c.(43-45)acA>acC	p.T15T	CFLAR_ENST00000342795.5_Silent_p.T15T|CFLAR_ENST00000341222.6_Silent_p.T15T|CFLAR_ENST00000395148.2_Silent_p.T15T|CFLAR_ENST00000440180.1_Silent_p.T15T|CFLAR_ENST00000340870.5_Silent_p.T15T|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000457277.1_Silent_p.T15T|CFLAR_ENST00000341582.6_Silent_p.T15T|CFLAR_ENST00000423241.2_Silent_p.T15T|CFLAR_ENST00000355558.4_Silent_p.T15T	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	15	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.T15T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CACTTGATACAGATGAGAAGG	0.478																																					Pancreas(16;548 657 22190 32864 42338)	Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(43-45)ACA>ACC		CASP8 and FADD-like apoptosis regulator isoform							193.0	188.0	189.0					2																	201994633		2203	4300	6503	SO:0001819	synonymous_variant	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:201994633A>C	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.45A>C	2.37:g.201994633A>C						CFLAR_uc002uwy.2_Silent_p.T15T|CFLAR_uc002uwz.2_Silent_p.T15T|CFLAR_uc002uxa.3_Silent_p.T15T|CFLAR_uc010zhk.1_Intron|CFLAR_uc002uxc.3_Silent_p.T15T|CFLAR_uc010zhl.1_Intron|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.T15T|CFLAR_uc002uxe.2_Silent_p.T15T|CFLAR_uc002uxf.2_Silent_p.T15T|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Silent_p.T15T	p.T15T	NM_003879	NP_003870	O15519	CFLAR_HUMAN			2	497	+			15			Interaction with FADD.|Interaction with caspase-8.|DED 1.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	c.45A>C	CCDS2337.1																																																																																				0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		16	186	0	0	0	0.004007	0	16	186				
ALS2CR12	130540	broad.mit.edu	37	2	202207129	202207129	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:202207129C>A	ENST00000286190.5	-	6	534	c.488G>T	c.(487-489)tGt>tTt	p.C163F	ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.C163F|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.C163F|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.C163F			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	163					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.C163F(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CATCTCAGCACAGCGGAGATC	0.483																																							uc010ftg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(487-489)TGT>TTT		amyotrophic lateral sclerosis 2 (juvenile)							166.0	134.0	145.0					2																	202207129		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202207129C>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.488G>T	2.37:g.202207129C>A	ENSP00000286190:p.Cys163Phe					ALS2CR12_uc002uya.3_Missense_Mutation_p.C163F|ALS2CR12_uc010fth.2_Intron	p.C163F	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			7	932	-			163			Potential.		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.488G>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.120119	0.20877	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.59	2.72	0.32119	.	0.564398	0.16530	N	0.210384	T	0.53738	0.1815	M	0.62723	1.935	0.25055	N	0.991104	D;B	0.71674	0.998;0.101	D;B	0.70935	0.971;0.112	T	0.35822	-0.9773	10	0.52906	T	0.07	-3.4582	4.9912	0.14214	0.2098:0.6836:0.0:0.1066	.	163;163	Q96Q35;G5E9S3	AL2SB_HUMAN;.	F	163	ENSP00000286190:C163F;ENSP00000385098:C163F;ENSP00000376086:C163F;ENSP00000412073:C163F	ENSP00000286190:C163F	C	-	2	0	ALS2CR12	201915374	0.006000	0.16342	0.912000	0.35992	0.081000	0.17604	0.785000	0.26830	1.225000	0.43566	0.557000	0.71058	TGT		0.483	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		15	12	1	0	2.23348e-06	0.004007	2.53163e-06	15	12				
BMPR2	659	broad.mit.edu	37	2	203421164	203421164	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:203421164G>A	ENST00000374580.4	+	12	3315	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	926					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CACAGCAGCAGATCCTGGGCC	0.488																																							uc002uzf.3		NA																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(2776-2778)GAT>AAT		bone morphogenetic protein receptor type II							101.0	107.0	105.0					2																	203421164		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203421164G>A	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2776G>A	2.37:g.203421164G>A	ENSP00000363708:p.Asp926Asn					BMPR2_uc010ftr.2_Intron	p.D926N	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			12	3924	+			926			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.2776G>A	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	8.666	0.901638	0.17760	.	.	ENSG00000204217	ENST00000374580	D	0.88586	-2.4	6.17	6.17	0.99709	.	0.466873	0.26499	N	0.024026	T	0.74642	0.3743	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69506	-0.5127	10	0.21014	T	0.42	.	11.7019	0.51575	0.1042:0.0:0.8958:0.0	.	926	Q13873	BMPR2_HUMAN	N	926	ENSP00000363708:D926N	ENSP00000363708:D926N	D	+	1	0	BMPR2	203129409	1.000000	0.71417	0.993000	0.49108	0.321000	0.28281	3.027000	0.49697	2.941000	0.99782	0.655000	0.94253	GAT		0.488	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		6	167	0	0	0	0.001168	0	6	167				
ICA1L	130026	broad.mit.edu	37	2	203653590	203653590	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:203653590G>A	ENST00000392237.2	-	12	1363	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	ICA1L_ENST00000358299.2_Silent_p.L402L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	402								p.L402L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAGGTCAAAGAGTTGTGAAG	0.483																																							uc002uzh.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1204-1206)CTC>CTT		islet cell autoantigen 1,69kDa-like isoform 1							73.0	71.0	72.0					2																	203653590		2203	4300	6503	SO:0001819	synonymous_variant	130026							g.chr2:203653590G>A	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1206C>T	2.37:g.203653590G>A						ICA1L_uc002uzi.1_Silent_p.L402L	p.L402L	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN			12	1370	-			402					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Silent	SNP	ENST00000392237.2	37	c.1206C>T	CCDS2354.1																																																																																				0.483	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		8	40	0	0	0	0.004482	0	8	40				
RAPH1	65059	broad.mit.edu	37	2	204322288	204322288	+	Missense_Mutation	SNP	C	C	G	rs193920935		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:204322288C>G	ENST00000319170.5	-	8	1422	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	RAPH1_ENST00000374488.2_Missense_Mutation_p.E400Q|RAPH1_ENST00000418114.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.E402Q|RAPH1_ENST00000457812.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.E400Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.E375Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.E427Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.E402Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.E427Q|RAPH1_ENST00000453034.1_Missense_Mutation_p.E427Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	375					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGCCATCTCAGCTGTTTCT	0.383																																							uc002vad.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(1123-1125)GAG>CAG		Ras association and pleckstrin homology domains							176.0	184.0	181.0					2																	204322288		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204322288C>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1123G>C	2.37:g.204322288C>G	ENSP00000316543:p.Glu375Gln					RAPH1_uc002vae.2_Missense_Mutation_p.E427Q|RAPH1_uc002vaf.2_Missense_Mutation_p.E427Q	p.E375Q	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			8	1348	-			375					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1123G>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181010	0.78677	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.50813	0.83;0.73;0.73;0.84;0.82;0.81;0.82;0.83;0.84;0.81;0.82	5.27	5.27	0.74061	.	0.000000	0.46442	D	0.000300	T	0.58278	0.2111	L	0.28115	0.83	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.982;1.0	D;P;D	0.91635	0.999;0.628;0.946	T	0.60495	-0.7252	10	0.51188	T	0.08	-22.7076	18.4864	0.90831	0.0:1.0:0.0:0.0	.	427;427;375	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	Q	375;375;427;402;400;427;400;375;402;427;400;375;402	ENSP00000392854:E375Q;ENSP00000316543:E375Q;ENSP00000363617:E427Q;ENSP00000363613:E402Q;ENSP00000363612:E400Q;ENSP00000311293:E427Q;ENSP00000411138:E400Q;ENSP00000390578:E375Q;ENSP00000397751:E402Q;ENSP00000406662:E427Q;ENSP00000396711:E375Q	ENSP00000311293:E427Q	E	-	1	0	RAPH1	204030533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.600000	0.82769	2.458000	0.83093	0.555000	0.69702	GAG		0.383	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		8	164	0	0	0	0.006214	0	8	164				
NRP2	8828	broad.mit.edu	37	2	206607987	206607987	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:206607987C>T	ENST00000357785.5	+	9	1383	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	NRP2_ENST00000540178.1_Missense_Mutation_p.S451F|NRP2_ENST00000417189.1_Missense_Mutation_p.S451F|NRP2_ENST00000360409.3_Missense_Mutation_p.S451F|NRP2_ENST00000272849.3_Missense_Mutation_p.S451F|NRP2_ENST00000540841.1_Missense_Mutation_p.S451F|NRP2_ENST00000412873.2_Missense_Mutation_p.S451F|NRP2_ENST00000357118.4_Missense_Mutation_p.S451F|NRP2_ENST00000355117.4_Missense_Mutation_p.S451F			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S451F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCAGATCTCCGCCTCTTCC	0.617																																							uc002vaw.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1351-1353)TCC>TTC		neuropilin 2 isoform 1 precursor							139.0	150.0	146.0					2																	206607987		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206607987C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1352C>T	2.37:g.206607987C>T	ENSP00000350432:p.Ser451Phe					NRP2_uc002vat.2_Missense_Mutation_p.S451F|NRP2_uc002vau.2_Missense_Mutation_p.S451F|NRP2_uc002vav.2_Missense_Mutation_p.S451F|NRP2_uc002vax.2_Missense_Mutation_p.S451F|NRP2_uc002vay.2_Missense_Mutation_p.S451F|NRP2_uc010fud.2_Missense_Mutation_p.S451F	p.S451F	NM_201266	NP_957718	O60462	NRP2_HUMAN			9	2143	+			451			Extracellular (Potential).|F5/8 type C 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1352C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743099	0.69418	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.153551	0.64402	D	0.000010	D	0.99105	0.9692	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D	0.61080	0.981;0.989;0.972;0.981;0.989;0.979	P;D;P;P;D;D	0.66084	0.857;0.941;0.735;0.857;0.924;0.916	D	0.99433	1.0936	10	0.72032	D	0.01	-24.2041	20.3928	0.98949	0.0:1.0:0.0:0.0	.	451;451;451;451;451;451	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	F	451	ENSP00000353582:S451F;ENSP00000439658:S451F;ENSP00000439261:S451F;ENSP00000347238:S451F;ENSP00000387519:S451F;ENSP00000349632:S451F;ENSP00000350432:S451F;ENSP00000407626:S451F;ENSP00000272849:S451F	ENSP00000272849:S451F	S	+	2	0	NRP2	206316232	1.000000	0.71417	0.972000	0.41901	0.139000	0.21198	5.862000	0.69560	2.813000	0.96785	0.655000	0.94253	TCC		0.617	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			45	312	0	0	0	0.01441	0	45	312				
PIKFYVE	200576	broad.mit.edu	37	2	209218694	209218694	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:209218694G>T	ENST00000264380.4	+	40	6075	c.5917G>T	c.(5917-5919)Gtc>Ttc	p.V1973F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1973	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.V1973F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGTGATGTGGTCCTGCTAGA	0.393																																							uc002vcz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(5917-5919)GTC>TTC		phosphatidylinositol-3-phosphate 5-kinase type							135.0	137.0	136.0					2																	209218694		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209218694G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5917G>T	2.37:g.209218694G>T	ENSP00000264380:p.Val1973Phe						p.V1973F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			40	6075	+			1973			Catalytic.|PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5917G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280069	0.95489	.	.	ENSG00000115020	ENST00000264380	T	0.50277	0.75	6.17	6.17	0.99709	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.80319	0.4601	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84518	0.0626	10	0.87932	D	0	-18.285	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1973	Q9Y2I7	FYV1_HUMAN	F	1973	ENSP00000264380:V1973F	ENSP00000264380:V1973F	V	+	1	0	PIKFYVE	208926939	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.675000	0.98638	2.941000	0.99782	0.655000	0.94253	GTC		0.393	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		33	39	1	0	1.06801e-11	0.009535	1.34381e-11	33	39				
VWC2L	402117	broad.mit.edu	37	2	215279129	215279129	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:215279129A>G	ENST00000312504.5	+	2	1014	c.212A>G	c.(211-213)cAt>cGt	p.H71R	VWC2L_ENST00000427124.1_Missense_Mutation_p.H71R|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	71	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.H71R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTCCCTGGGCATTCCAACTGT	0.453																																							uc002vet.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(211-213)CAT>CGT		von Willebrand factor C domain-containing							108.0	113.0	112.0					2																	215279129		1956	4144	6100	SO:0001583	missense	402117					extracellular region		g.chr2:215279129A>G	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.212A>G	2.37:g.215279129A>G	ENSP00000308976:p.His71Arg					VWC2L_uc010zjl.1_Missense_Mutation_p.H71R	p.H71R	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			2	342	+			71			VWFC 1.		A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.212A>G	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.634573	0.67130	.	.	ENSG00000174453	ENST00000312504;ENST00000427124	T;T	0.64085	-0.08;-0.08	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	N	0.08118	0	0.49213	D	0.999764	B;D	0.57257	0.039;0.979	B;P	0.53313	0.028;0.723	T	0.54761	-0.8245	10	0.20046	T	0.44	-4.1559	16.6438	0.85155	1.0:0.0:0.0:0.0	.	71;71	B7ZW27;B2RUY7	.;VWC2L_HUMAN	R	71	ENSP00000308976:H71R;ENSP00000403779:H71R	ENSP00000308976:H71R	H	+	2	0	VWC2L	214987374	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.538000	0.82048	2.333000	0.79357	0.533000	0.62120	CAT		0.453	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		7	10	0	0	0	0.001984	0	7	10				
FN1	2335	broad.mit.edu	37	2	216279643	216279643	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:216279643G>C	ENST00000359671.1	-	13	2123	c.1858C>G	c.(1858-1860)Ccg>Gcg	p.P620A	FN1_ENST00000336916.4_Missense_Mutation_p.P620A|FN1_ENST00000432072.2_Missense_Mutation_p.P620A|FN1_ENST00000323926.6_Missense_Mutation_p.P620A|FN1_ENST00000426059.1_Missense_Mutation_p.P620A|FN1_ENST00000345488.5_Missense_Mutation_p.P620A|FN1_ENST00000357867.4_Missense_Mutation_p.P620A|FN1_ENST00000357009.2_Missense_Mutation_p.P620A|FN1_ENST00000421182.1_Missense_Mutation_p.P620A|FN1_ENST00000446046.1_Missense_Mutation_p.P620A|FN1_ENST00000443816.1_Missense_Mutation_p.P620A|FN1_ENST00000346544.3_Missense_Mutation_p.P620A|FN1_ENST00000356005.4_Missense_Mutation_p.P620A|FN1_ENST00000354785.4_Missense_Mutation_p.P620A			P02751	FINC_HUMAN	fibronectin 1	620	Fibronectin type-III 1.				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)	p.P620A(2)	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)	GGCTGACTCGGAGTCTCAGTG	0.443																																							uc002vfa.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1858-1860)CCG>GCG		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						86.0	83.0	84.0					2																	216279643		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.chr2:216279643G>C		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.1858C>G	2.37:g.216279643G>C	ENSP00000352696:p.Pro620Ala					FN1_uc002vfb.2_Missense_Mutation_p.P620A|FN1_uc002vfc.2_Missense_Mutation_p.P620A|FN1_uc002vfd.2_Missense_Mutation_p.P620A|FN1_uc002vfe.2_Missense_Mutation_p.P620A|FN1_uc002vff.2_Missense_Mutation_p.P620A|FN1_uc002vfg.2_Missense_Mutation_p.P620A|FN1_uc002vfh.2_Missense_Mutation_p.P620A|FN1_uc002vfi.2_Missense_Mutation_p.P620A|FN1_uc002vfj.2_Missense_Mutation_p.P620A|FN1_uc002vfl.2_Missense_Mutation_p.P620A	p.P620A	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)	13	2124	-		Renal(323;0.127)	620			Fibronectin type-III 1.		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.1858C>G		.	.	.	.	.	.	.	.	.	.	G	9.801	1.180481	0.21787	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;1.5	5.42	5.42	0.78866	.	0.188996	0.37178	N	0.002215	D	0.84920	0.5579	L	0.34521	1.04	0.35768	D	0.820675	B;D;B;B;B;B;B;P;B;B;B	0.58970	0.001;0.984;0.0;0.06;0.022;0.027;0.001;0.464;0.022;0.022;0.069	B;D;B;B;B;B;B;B;B;B;B	0.64506	0.001;0.926;0.0;0.011;0.005;0.008;0.0;0.053;0.005;0.005;0.035	D	0.83656	0.0158	10	0.21540	T	0.41	.	8.8771	0.35352	0.0769:0.0:0.7638:0.1593	.	620;620;620;620;620;620;620;620;620;620;620	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	A	620	ENSP00000394423:P620A;ENSP00000323534:P620A;ENSP00000338200:P620A;ENSP00000350534:P620A;ENSP00000346839:P620A;ENSP00000352696:P620A;ENSP00000265312:P620A;ENSP00000273049:P620A;ENSP00000349509:P620A;ENSP00000410422:P620A;ENSP00000415018:P620A;ENSP00000399538:P620A;ENSP00000348285:P620A;ENSP00000398907:P620A	ENSP00000265313:P620A	P	-	1	0	FN1	215987888	0.999000	0.42202	0.989000	0.46669	0.160000	0.22226	3.460000	0.53028	2.696000	0.92011	0.650000	0.86243	CCG		0.443	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		4	27	0	0	0	0.009096	0	4	27				
MARCH4	57574	broad.mit.edu	37	2	217234937	217234937	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:217234937C>T	ENST00000273067.4	-	1	1813	c.47G>A	c.(46-48)tGc>tAc	p.C16Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	16						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C16Y(2)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCAGCCGGAGCAGCAGCACCA	0.617																																							uc002vgb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(46-48)TGC>TAC		membrane-associated ring finger (C3HC4) 4							17.0	20.0	19.0					2																	217234937		2202	4297	6499	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234937C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.47G>A	2.37:g.217234937C>T	ENSP00000273067:p.Cys16Tyr						p.C16Y	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1814	-		Renal(323;0.0854)	16					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.47G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	5.345	0.248877	0.10130	.	.	ENSG00000144583	ENST00000273067	T	0.17528	2.27	5.03	3.21	0.36854	.	0.462910	0.16220	N	0.224066	T	0.12347	0.0300	L	0.27053	0.805	0.26670	N	0.97176	B	0.20671	0.047	B	0.17098	0.017	T	0.18335	-1.0340	10	0.87932	D	0	-0.7951	8.8907	0.35432	0.1483:0.7725:0.0:0.0792	.	16	Q9P2E8	MARH4_HUMAN	Y	16	ENSP00000273067:C16Y	ENSP00000273067:C16Y	C	-	2	0	MARCH4	216943182	0.998000	0.40836	0.518000	0.27811	0.315000	0.28087	2.103000	0.41806	0.690000	0.31570	0.591000	0.81541	TGC		0.617	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		10	15	0	0	0	0.006214	0	10	15				
TNS1	7145	broad.mit.edu	37	2	218713785	218713785	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:218713785T>A	ENST00000171887.4	-	17	1532	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Silent_p.P360P|TNS1_ENST00000430930.1_Silent_p.P360P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	360					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.P485P(2)|p.P360P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCCATCTAGTGGCCCCTGCG	0.597																																							uc002vgt.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|breast(1)	4						c.(1078-1080)CCA>CCT		tensin							104.0	103.0	103.0					2																	218713785		2203	4300	6503	SO:0001819	synonymous_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713785T>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1080A>T	2.37:g.218713785T>A						TNS1_uc002vgr.2_Silent_p.P360P|TNS1_uc002vgs.2_Silent_p.P360P|TNS1_uc010zjv.1_Silent_p.P360P|TNS1_uc010fvj.1_Silent_p.P428P|TNS1_uc010fvk.1_Silent_p.P485P|TNS1_uc010fvi.1_Silent_p.P47P	p.P360P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	1478	-		Renal(207;0.0483)|Lung NSC(271;0.213)	360					Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	c.1080A>T	CCDS2407.1																																																																																				0.597	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		135	141	0	0	0	0.01441	0	135	141				
CXCR2	3579	broad.mit.edu	37	2	219000386	219000386	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219000386C>A	ENST00000318507.2	+	3	1289	c.862C>A	c.(862-864)Cgc>Agc	p.R288S		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	288					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.R288S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GACCTGTGAGCGCCGCAATCA	0.592																																							uc002vgz.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(862-864)CGC>AGC		interleukin 8 receptor beta							83.0	78.0	79.0					2																	219000386		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000386C>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.862C>A	2.37:g.219000386C>A	ENSP00000319635:p.Arg288Ser					CXCR2_uc002vha.1_Missense_Mutation_p.R288S|CXCR2_uc002vhb.1_Missense_Mutation_p.R288S	p.R288S	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	1087	+			288			Extracellular (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.862C>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124263	0.20959	.	.	ENSG00000180871	ENST00000318507	T	0.71222	-0.55	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.421540	0.25900	N	0.027577	T	0.73489	0.3593	L	0.35644	1.08	0.09310	N	1	D	0.56746	0.977	P	0.62089	0.898	T	0.65096	-0.6251	9	.	.	.	.	11.4286	0.50027	0.0:0.9156:0.0:0.0844	.	288	P25025	CXCR2_HUMAN	S	288	ENSP00000319635:R288S	.	R	+	1	0	CXCR2	218708631	0.002000	0.14202	0.431000	0.26735	0.048000	0.14542	0.365000	0.20348	2.529000	0.85273	0.456000	0.33151	CGC		0.592	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		80	66	1	0	1.94393e-27	0.01441	2.69331e-27	80	66				
ZNF142	7701	broad.mit.edu	37	2	219507065	219507065	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219507065G>A	ENST00000449707.1	-	8	4595	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1392W	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1229W(2)|p.R1392W(2)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCCCACCCGCTCCCGGGCA	0.637																																					Colon(170;867 1942 8995 15834 18053)	Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NA																	4	Substitution - Missense(4)		lung(4)	breast(2)|ovary(1)|skin(1)	4						c.(4174-4176)CGG>TGG		zinc finger protein 142							44.0	51.0	49.0					2																	219507065		2132	4252	6384	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507065G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4174C>T	2.37:g.219507065G>A	ENSP00000408643:p.Arg1392Trp					ZNF142_uc002vil.2_Missense_Mutation_p.R1353W|ZNF142_uc010fvt.2_Missense_Mutation_p.R1229W|ZNF142_uc002vim.2_Missense_Mutation_p.R1229W	p.R1392W	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	4610	-		Renal(207;0.0474)	1392			C2H2-type 23.		Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4174C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	g	19.92	3.916306	0.73098	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.13307	2.6;2.6	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);	0.112083	0.64402	D	0.000015	T	0.29158	0.0725	L	0.29908	0.895	0.48511	D	0.999663	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01621	-1.1310	10	0.87932	D	0	-23.0687	19.439	0.94809	0.0:0.0:1.0:0.0	.	1392;1229	P52746;A8MWU9	ZN142_HUMAN;.	W	1392	ENSP00000408643:R1392W;ENSP00000398798:R1392W	ENSP00000398798:R1392W	R	-	1	2	ZNF142	219215309	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.646000	0.54396	2.828000	0.97474	0.645000	0.84053	CGG		0.637	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		94	90	0	0	0	0.01441	0	94	90				
TTLL4	9654	broad.mit.edu	37	2	219617644	219617644	+	Silent	SNP	C	C	T	rs201944426		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219617644C>T	ENST00000392102.1	+	17	3475	c.3135C>T	c.(3133-3135)ttC>ttT	p.F1045F	TTLL4_ENST00000442769.1_Silent_p.F981F|TTLL4_ENST00000457313.1_Silent_p.F880F|TTLL4_ENST00000258398.4_Silent_p.F1045F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1045					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CACGATATTTCAACATTCTCA	0.448																																					GBM(172;1818 2053 15407 20943 49753)	GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	0				ovary(2)|skin(1)	3						c.(3133-3135)TTC>TTT		tubulin tyrosine ligase-like family, member 4							142.0	138.0	140.0					2																	219617644		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219617644C>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3135C>T	2.37:g.219617644C>T						TTLL4_uc010zkl.1_Silent_p.F880F|TTLL4_uc010fvx.2_Silent_p.F981F|TTLL4_uc010zkm.1_Silent_p.F248F	p.F1045F	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	17	3505	+		Renal(207;0.0915)	1045					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.3135C>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	9.256	1.042072	0.19748	.	.	ENSG00000135912	ENST00000417855	.	.	.	4.89	3.93	0.45458	.	.	.	.	.	T	0.56819	0.2011	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52997	-0.8500	4	.	.	.	.	7.4306	0.27126	0.0:0.766:0.0:0.234	.	.	.	.	L	71	.	.	S	+	2	0	TTLL4	219325888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.267000	0.43329	2.542000	0.85734	0.655000	0.94253	TCA		0.448	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		5	176	0	0	0	0.001984	0	5	176				
TTLL4	9654	broad.mit.edu	37	2	219617846	219617846	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219617846C>T	ENST00000392102.1	+	18	3536	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	TTLL4_ENST00000442769.1_Silent_p.L1002L|TTLL4_ENST00000457313.1_Silent_p.L901L|TTLL4_ENST00000258398.4_Silent_p.L1066L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1066					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGGAGTAGATCTGCTCCGGAG	0.498																																					GBM(172;1818 2053 15407 20943 49753)	GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	0				ovary(2)|skin(1)	3						c.(3196-3198)CTG>TTG		tubulin tyrosine ligase-like family, member 4							235.0	233.0	233.0					2																	219617846		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219617846C>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3196C>T	2.37:g.219617846C>T						TTLL4_uc010zkl.1_Silent_p.L901L|TTLL4_uc010fvx.2_Silent_p.L1002L|TTLL4_uc010zkm.1_3'UTR	p.L1066L	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	18	3566	+		Renal(207;0.0915)	1066					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.3196C>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373829	0.42105	.	.	ENSG00000135912	ENST00000436668	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.71929	0.3398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70135	-0.4955	4	.	.	.	.	15.9951	0.80234	0.0:1.0:0.0:0.0	.	.	.	.	F	168	.	.	S	+	2	0	TTLL4	219326090	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.655000	0.46707	2.683000	0.91414	0.655000	0.94253	TCT		0.498	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		8	424	0	0	0	0.004482	0	8	424				
TTLL4	9654	broad.mit.edu	37	2	219619112	219619112	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219619112A>G	ENST00000392102.1	+	20	3940	c.3600A>G	c.(3598-3600)taA>taG	p.*1200*	TTLL4_ENST00000442769.1_Silent_p.*1136*|TTLL4_ENST00000457313.1_3'UTR|TTLL4_ENST00000258398.4_Silent_p.*1200*	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	0					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAGCCCATAACTGGCCTCTC	0.552																																					GBM(172;1818 2053 15407 20943 49753)	GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	0				ovary(2)|skin(1)	3						c.(3598-3600)TAA>TAG		tubulin tyrosine ligase-like family, member 4							68.0	68.0	68.0					2																	219619112		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219619112A>G		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3600A>G	2.37:g.219619112A>G						TTLL4_uc010zkl.1_3'UTR|TTLL4_uc010fvx.2_Silent_p.*1136*	p.*1200*	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	20	3970	+		Renal(207;0.0915)	1200					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.3600A>G	CCDS2422.1																																																																																				0.552	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		5	109	0	0	0	0.001168	0	5	109				
IHH	3549	broad.mit.edu	37	2	219920102	219920102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219920102G>A	ENST00000295731.6	-	3	1062	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	355					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)	p.H355Y(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCCAGGTGGTGGTCAGCC	0.647																																							uc002vjo.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1063-1065)CAC>TAC		Indian hedgehog homolog precursor							31.0	30.0	31.0					2																	219920102		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920102G>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.1063C>T	2.37:g.219920102G>A	ENSP00000295731:p.His355Tyr						p.H355Y	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1063	-		Renal(207;0.0915)	355					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.1063C>T	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	G	8.250	0.808838	0.16467	.	.	ENSG00000163501	ENST00000295731	D	0.99245	-5.62	5.16	3.25	0.37280	Peptidase C46, hedgehog protein, hint region (1);	0.932477	0.09187	N	0.836630	D	0.95743	0.8615	N	0.14661	0.345	0.09310	N	1	B	0.29301	0.241	B	0.24974	0.057	D	0.93392	0.6752	10	0.16896	T	0.51	-7.3155	5.1787	0.15148	0.0792:0.1435:0.6293:0.1481	.	355	Q14623	IHH_HUMAN	Y	355	ENSP00000295731:H355Y	ENSP00000295731:H355Y	H	-	1	0	IHH	219628346	0.054000	0.20591	0.942000	0.38095	0.969000	0.65631	0.925000	0.28791	1.160000	0.42584	0.561000	0.74099	CAC		0.647	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		33	37	0	0	0	0.013726	0	33	37				
NHEJ1	79840	broad.mit.edu	37	2	219942919	219942919	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:219942919C>T	ENST00000356853.5	-	6	731	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Missense_Mutation_p.E200K	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	200					B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E200K(2)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTGCATGCCTCTGGCAGTTTC	0.478								Non-homologous end-joining																															uc002vjp.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(598-600)GAG>AAG	Direct_reversal_of_damage|NHEJ	nonhomologous end-joining factor 1							114.0	100.0	105.0					2																	219942919		2203	4300	6503	SO:0001583	missense	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:219942919C>T	AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.598G>A	2.37:g.219942919C>T	ENSP00000349313:p.Glu200Lys					NHEJ1_uc002vjq.3_RNA	p.E200K	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	6	744	-		Renal(207;0.0915)	200					B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Missense_Mutation	SNP	ENST00000356853.5	37	c.598G>A	CCDS2432.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599559	0.28534	.	.	ENSG00000187736	ENST00000409720;ENST00000356853;ENST00000426304;ENST00000457600	T;T;T;T	0.65364	0.2;0.24;0.44;-0.15	5.04	5.04	0.67666	.	0.601517	0.14600	U	0.309680	T	0.54319	0.1851	L	0.59436	1.845	0.80722	D	1	B	0.27882	0.192	B	0.24848	0.056	T	0.45026	-0.9289	10	0.10111	T	0.7	-0.3809	11.5909	0.50945	0.0:0.8206:0.1794:0.0	.	200	Q9H9Q4	NHEJ1_HUMAN	K	200;200;120;200	ENSP00000387290:E200K;ENSP00000349313:E200K;ENSP00000394896:E120K;ENSP00000407201:E200K	ENSP00000349313:E200K	E	-	1	0	NHEJ1	219651163	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	2.539000	0.45718	2.622000	0.88805	0.655000	0.94253	GAG		0.478	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782		25	41	0	0	0	0.003954	0	25	41				
ANKZF1	55139	broad.mit.edu	37	2	220097894	220097894	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:220097894G>C	ENST00000323348.5	+	6	826	c.652G>C	c.(652-654)Gct>Cct	p.A218P	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A8P|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A218P	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	218						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.A218P(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCACTTTGCTGGTGCTAT	0.557																																							uc002vkg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(652-654)GCT>CCT		ankyrin repeat and zinc finger domain containing							165.0	171.0	169.0					2																	220097894		2041	4199	6240	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220097894G>C	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.652G>C	2.37:g.220097894G>C	ENSP00000321617:p.Ala218Pro					ANKZF1_uc010zkv.1_Missense_Mutation_p.A162P|ANKZF1_uc010zkw.1_Missense_Mutation_p.A8P|ANKZF1_uc002vkh.2_Missense_Mutation_p.A8P|ANKZF1_uc002vki.2_Missense_Mutation_p.A218P|ANKZF1_uc002vkj.1_Missense_Mutation_p.A206P	p.A218P	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	826	+		Renal(207;0.0474)	218					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.652G>C	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638492	0.87760	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.63580	-0.05;0.83;-0.05	5.28	5.28	0.74379	.	0.046839	0.85682	D	0.000000	D	0.84005	0.5377	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.995;0.984	D	0.87206	0.2244	10	0.87932	D	0	-11.9609	19.1181	0.93350	0.0:0.0:1.0:0.0	.	162;8;218	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	P	218;8;218	ENSP00000321617:A218P;ENSP00000386815:A8P;ENSP00000386337:A218P	ENSP00000321617:A218P	A	+	1	0	ANKZF1	219806138	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.857000	0.92250	2.756000	0.94617	0.655000	0.94253	GCT		0.557	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		95	234	0	0	0	0.01441	0	95	234				
STK11IP	114790	broad.mit.edu	37	2	220473349	220473349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:220473349G>T	ENST00000456909.1	+	15	1738	c.1648G>T	c.(1648-1650)Gag>Tag	p.E550*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.E561*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	561	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGGGCCTGAGGGCGTACG	0.607																																							uc002vml.2		NA																	0				ovary(1)	1						c.(1681-1683)GAG>TAG		LKB1 interacting protein							50.0	55.0	53.0					2																	220473349		1986	4143	6129	SO:0001587	stop_gained	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473349G>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1648G>T	2.37:g.220473349G>T	ENSP00000389383:p.Glu550*					STK11IP_uc010zll.1_Nonsense_Mutation_p.E518*|STK11IP_uc002vmm.1_Nonsense_Mutation_p.E550*	p.E561*	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1724	+		Renal(207;0.0183)	561			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	37	c.1681G>T		.	.	.	.	.	.	.	.	.	.	G	25.7	4.664537	0.88251	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	.	.	.	4.5	1.56	0.23342	.	0.842078	0.10336	N	0.686940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.6098	7.1985	0.25866	0.0925:0.3295:0.578:0.0	.	.	.	.	X	550;529;561	.	ENSP00000295641:E561X	E	+	1	0	STK11IP	220181593	0.005000	0.15991	0.000000	0.03702	0.296000	0.27459	0.676000	0.25247	0.115000	0.18071	0.561000	0.74099	GAG		0.607	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		11	81	1	0	1.49906e-05	0.00245	1.65776e-05	11	81				
PAX3	5077	broad.mit.edu	37	2	223084905	223084905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:223084905G>T	ENST00000350526.4	-	7	1263	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	PAX3_ENST00000344493.4_Missense_Mutation_p.P376H|PAX3_ENST00000392070.2_Missense_Mutation_p.P376H|PAX3_ENST00000336840.6_Missense_Mutation_p.P376H|PAX3_ENST00000409551.3_Missense_Mutation_p.P375H|PAX3_ENST00000392069.2_Missense_Mutation_p.P376H|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	376					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P376H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTTGGAGGGCCCCGACGG	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																uc010fwo.2		NA		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	soft_tissue(761)|ovary(4)|skin(1)	766						c.(1126-1128)CCC>CAC		paired box 3 isoform PAX3							114.0	108.0	110.0					2																	223084905		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223084905G>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1127C>A	2.37:g.223084905G>T	ENSP00000343052:p.Pro376His					PAX3_uc002vmt.1_Missense_Mutation_p.P376H|PAX3_uc002vmy.1_Missense_Mutation_p.P375H|PAX3_uc002vmv.1_Missense_Mutation_p.P376H|PAX3_uc002vmw.1_Missense_Mutation_p.P376H|PAX3_uc002vmx.1_Missense_Mutation_p.P376H	p.P376H	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1493	-		Renal(207;0.0183)	376					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1127C>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985485	0.35036	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.68	5.68	0.88126	.	0.110971	0.64402	D	0.000008	T	0.68174	0.2972	N	0.13003	0.285	0.80722	D	1	B;B;B;B;B	0.20459	0.045;0.026;0.021;0.036;0.021	B;B;B;B;B	0.29598	0.104;0.015;0.009;0.085;0.013	T	0.61441	-0.7062	10	0.30078	T	0.28	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	376;375;376;376;376	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	H	376;376;376;376;376;375;93;93	ENSP00000375921:P376H;ENSP00000342092:P376H;ENSP00000343052:P376H;ENSP00000375922:P376H;ENSP00000338767:P376H;ENSP00000386750:P375H	ENSP00000338767:P376H	P	-	2	0	PAX3	222793149	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.843000	0.62838	2.685000	0.91497	0.650000	0.86243	CCC		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			7	39	1	0	2.0095e-06	0.001984	2.28488e-06	7	39				
NYAP2	57624	broad.mit.edu	37	2	226273676	226273676	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:226273676G>C	ENST00000272907.6	+	2	493	c.80G>C	c.(79-81)gGg>gCg	p.G27A	NYAP2_ENST00000409269.2_Missense_Mutation_p.G27A	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	27					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.G27A(2)									GAGGATATGGGGATGAAGGCC	0.428																																							uc002voe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(79-81)GGG>GCG		hypothetical protein LOC57624							153.0	138.0	143.0					2																	226273676		1898	4124	6022	SO:0001583	missense	57624							g.chr2:226273676G>C	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.80G>C	2.37:g.226273676G>C	ENSP00000272907:p.Gly27Ala					KIAA1486_uc010fxa.1_Missense_Mutation_p.G22A	p.G27A	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	2	255	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	27					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.80G>C	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348565	0.82132	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.47869	0.83	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.68504	0.3008	L	0.61387	1.9	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64884	-0.6302	10	0.45353	T	0.12	-17.6091	20.3167	0.98654	0.0:0.0:1.0:0.0	.	27;27	Q9P242-2;Q9P242	.;K1486_HUMAN	A	27	ENSP00000272907:G27A	ENSP00000272907:G27A	G	+	2	0	KIAA1486	225981920	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.926000	0.75835	2.809000	0.96659	0.557000	0.71058	GGG		0.428	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		14	18	0	0	0	0.003163	0	14	18				
IRS1	3667	broad.mit.edu	37	2	227661262	227661262	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:227661262G>C	ENST00000305123.5	-	1	3213	c.2193C>G	c.(2191-2193)gaC>gaG	p.D731E	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	731					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D731E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGTTCATGTAGTCACCTGTGC	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002voh.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(2191-2193)GAC>GAG		insulin receptor substrate 1							137.0	144.0	141.0					2																	227661262		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661262G>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2193C>G	2.37:g.227661262G>C	ENSP00000304895:p.Asp731Glu		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.D731E	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2245	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	731						Missense_Mutation	SNP	ENST00000305123.5	37	c.2193C>G	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	6.844	0.524877	0.13066	.	.	ENSG00000169047	ENST00000305123	T	0.66815	-0.23	4.85	3.95	0.45737	.	0.064020	0.64402	N	0.000016	T	0.56630	0.1998	L	0.56199	1.76	0.34841	D	0.740642	B	0.06786	0.001	B	0.04013	0.001	T	0.58504	-0.7625	10	0.21540	T	0.41	-29.5004	8.5951	0.33710	0.0795:0.0:0.755:0.1655	.	731	P35568	IRS1_HUMAN	E	731	ENSP00000304895:D731E	ENSP00000304895:D731E	D	-	3	2	IRS1	227369506	0.997000	0.39634	1.000000	0.80357	0.972000	0.66771	0.765000	0.26546	1.202000	0.43218	0.561000	0.74099	GAC		0.597	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		13	311	0	0	0	0.013537	0	13	311				
C2orf83	56918	broad.mit.edu	37	2	228497784	228497784	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:228497784C>A	ENST00000264387.4	-	1	104	c.18G>T	c.(16-18)ctG>ctT	p.L6L	C2orf83_ENST00000409066.1_Silent_p.L6L	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	6					transport (GO:0006810)	membrane (GO:0016020)		p.L6L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TTCCAAACGTCAGGGCATAGT	0.428																																							uc002vph.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(16-18)CTG>CTT		hypothetical protein LOC56918 isoform 1							130.0	104.0	113.0					2																	228497784		2203	4300	6503	SO:0001819	synonymous_variant	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228497784C>A		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.18G>T	2.37:g.228497784C>A						C2orf83_uc010zlu.1_Silent_p.L6L	p.L6L	NM_020161	NP_064546	Q53S99	CB083_HUMAN			1	253	-			6					A2RRG6|B8ZZI8|Q9NPW4	Silent	SNP	ENST00000264387.4	37	c.18G>T	CCDS33388.1																																																																																				0.428	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		13	17	1	0	0.000219431	0.00245	0.000235836	13	17				
PID1	55022	broad.mit.edu	37	2	230020567	230020567	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:230020567C>G	ENST00000354069.6	-	2	273	c.243G>C	c.(241-243)ccG>ccC	p.P81P	PID1_ENST00000392054.3_Silent_p.P79P|PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Silent_p.P48P|PID1_ENST00000482518.2_5'UTR			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	81					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P79P(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCTTCATCAGCGGTGTGGTCG	0.527																																							uc002vpr.3		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|skin(1)	4						c.(241-243)CCG>CCC		phosphotyrosine interaction domain containing 1							110.0	103.0	106.0					2																	230020567		2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:230020567C>G	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.243G>C	2.37:g.230020567C>G						PID1_uc002vps.3_Silent_p.P79P|PID1_uc002vpt.3_Silent_p.P48P|PID1_uc002vpu.3_Intron	p.P81P	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	2	281	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	81					B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.243G>C																																																																																					0.527	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		33	64	0	0	0	0.009535	0	33	64				
DIS3L2	129563	broad.mit.edu	37	2	232894773	232894773	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:232894773C>T	ENST00000409307.1	+	4	349	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	DIS3L2_ENST00000360410.4_Missense_Mutation_p.P117S|DIS3L2_ENST00000325385.7_Missense_Mutation_p.P117S|DIS3L2_ENST00000409401.3_Missense_Mutation_p.P117S|DIS3L2_ENST00000273009.6_Missense_Mutation_p.P117S|DIS3L2_ENST00000470087.1_3'UTR					DIS3 like 3'-5' exoribonuclease 2									p.P117S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAAACTGCTTCCCGAGGAGCA	0.428																																							uc010fxz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(349-351)CCC>TCC		DIS3 mitotic control homolog (S.							151.0	146.0	148.0					2																	232894773		1864	4098	5962	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:232894773C>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.349C>T	2.37:g.232894773C>T	ENSP00000386799:p.Pro117Ser					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.P117S|DIS3L2_uc002vso.2_RNA	p.P117S	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	5	625	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	117						Missense_Mutation	SNP	ENST00000409307.1	37	c.349C>T	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100630	0.76983	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000441279;ENST00000431466;ENST00000409307	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	5.53	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.56277	0.1974	M	0.73962	2.25	0.53005	D	0.999965	D;D	0.89917	0.97;1.0	P;D	0.78314	0.688;0.991	T	0.61481	-0.7054	10	0.59425	D	0.04	-10.901	16.091	0.81090	0.0:0.8658:0.1342:0.0	.	117;117	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	S	117	ENSP00000273009:P117S;ENSP00000315569:P117S;ENSP00000353584:P117S;ENSP00000386594:P117S;ENSP00000390467:P117S;ENSP00000386799:P117S	ENSP00000273009:P117S	P	+	1	0	DIS3L2	232603017	1.000000	0.71417	0.924000	0.36721	0.942000	0.58702	3.867000	0.56047	1.287000	0.44583	0.557000	0.71058	CCC		0.428	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		26	21	0	0	0	0.00333	0	26	21				
SH3BP4	23677	broad.mit.edu	37	2	235949751	235949751	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:235949751A>G	ENST00000409212.1	+	4	845	c.338A>G	c.(337-339)aAc>aGc	p.N113S	SH3BP4_ENST00000392011.2_Missense_Mutation_p.N113S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.N113S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	113	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.N113S(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCCTTGAACTACCGGAAC	0.552																																							uc002vvp.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(337-339)AAC>AGC		SH3-domain binding protein 4							146.0	124.0	132.0					2																	235949751		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949751A>G	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.338A>G	2.37:g.235949751A>G	ENSP00000386862:p.Asn113Ser					SH3BP4_uc010fym.2_Missense_Mutation_p.N113S|SH3BP4_uc002vvq.2_Missense_Mutation_p.N113S	p.N113S	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	731	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	113			SH3.		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.338A>G	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926440	0.52759	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.24	5.24	0.73138	Src homology-3 domain (2);	0.089102	0.85682	D	0.000000	T	0.30386	0.0763	M	0.66939	2.045	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.14448	-1.0472	10	0.08837	T	0.75	-32.5743	13.9661	0.64209	1.0:0.0:0.0:0.0	.	113;113	A8K594;Q9P0V3	.;SH3B4_HUMAN	S	113	ENSP00000375867:N113S;ENSP00000403251:N113S;ENSP00000386862:N113S;ENSP00000340237:N113S;ENSP00000415391:N113S	ENSP00000340237:N113S	N	+	2	0	SH3BP4	235614490	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	3.039000	0.49791	1.978000	0.57642	0.533000	0.62120	AAC		0.552	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			8	36	0	0	0	0.00308	0	8	36				
SH3BP4	23677	broad.mit.edu	37	2	235962399	235962399	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:235962399C>T	ENST00000409212.1	+	6	3338	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F	SH3BP4_ENST00000392011.2_Missense_Mutation_p.S944F|SH3BP4_ENST00000344528.4_Missense_Mutation_p.S944F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	944					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.S944F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTGGTGAACTCCCTGGACGTT	0.597																																							uc002vvp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2830-2832)TCC>TTC		SH3-domain binding protein 4							162.0	155.0	157.0					2																	235962399		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235962399C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2831C>T	2.37:g.235962399C>T	ENSP00000386862:p.Ser944Phe					SH3BP4_uc010fym.2_Missense_Mutation_p.S926F|SH3BP4_uc002vvq.2_Missense_Mutation_p.S944F	p.S944F	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	6	3224	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	944					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.2831C>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982948	0.53827	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000538289	T;T;T	0.43294	0.95;0.95;0.95	5.6	3.78	0.43462	.	0.164580	0.56097	D	0.000035	T	0.37785	0.1016	L	0.52573	1.65	0.43598	D	0.995956	P;P	0.37955	0.612;0.612	B;B	0.33890	0.172;0.172	T	0.29971	-0.9994	10	0.62326	D	0.03	-12.8911	15.115	0.72394	0.0:0.7313:0.2687:0.0	.	944;944	A8K594;Q9P0V3	.;SH3B4_HUMAN	F	944;534;944;944;182	ENSP00000375867:S944F;ENSP00000386862:S944F;ENSP00000340237:S944F	ENSP00000340237:S944F	S	+	2	0	SH3BP4	235627138	0.997000	0.39634	0.874000	0.34290	0.932000	0.56968	3.110000	0.50352	0.719000	0.32188	0.655000	0.94253	TCC		0.597	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			14	119	0	0	0	0.001855	0	14	119				
SCLY	51540	broad.mit.edu	37	2	239006934	239006934	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:239006934G>C	ENST00000555827.1	+	12	1340	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	ESPNL_ENST00000343063.3_5'Flank|SCLY_ENST00000254663.6_Missense_Mutation_p.E434Q|SCLY_ENST00000429612.2_Missense_Mutation_p.E220Q|SCLY_ENST00000422984.2_Missense_Mutation_p.E332Q|ESPNL_ENST00000409169.1_5'Flank			Q96I15	SCLY_HUMAN	selenocysteine lyase	426					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.E426Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CACCAGGGCCGAGGTGGACCT	0.716																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	uc010fyv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1276-1278)GAG>CAG		selenocysteine lyase							27.0	26.0	27.0					2																	239006934		2202	4296	6498	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:239006934G>C	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.1276G>C	2.37:g.239006934G>C	ENSP00000450613:p.Glu426Gln					SCLY_uc002vxm.3_Missense_Mutation_p.E393Q|SCLY_uc010znq.1_Missense_Mutation_p.E220Q|SCLY_uc010znr.1_Missense_Mutation_p.E332Q|SCLY_uc002vxp.3_RNA|ESPNL_uc002vxq.3_5'Flank	p.E426Q	NM_016510	NP_057594	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	12	1340	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	426					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.1276G>C		.	.	.	.	.	.	.	.	.	.	G	15.99	2.994876	0.54041	.	.	ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000422984;ENST00000429612	T;T;T;T	0.57436	1.71;1.71;1.71;0.4	4.77	4.77	0.60923	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.294357	0.35466	N	0.003199	T	0.52191	0.1719	L	0.55990	1.75	0.37187	D	0.903776	P;D;P	0.57571	0.667;0.98;0.842	B;P;B	0.44696	0.289;0.458;0.275	T	0.65261	-0.6211	10	0.62326	D	0.03	-12.9804	14.728	0.69360	0.0:0.0:1.0:0.0	.	332;220;426	E7ESG3;E7ESH3;Q96I15	.;.;SCLY_HUMAN	Q	434;426;332;220	ENSP00000254663:E434Q;ENSP00000450613:E426Q;ENSP00000416865:E332Q;ENSP00000393694:E220Q	ENSP00000254663:E426Q	E	+	1	0	SCLY	238671673	1.000000	0.71417	0.080000	0.20451	0.144000	0.21451	6.853000	0.75435	2.196000	0.70406	0.603000	0.83216	GAG		0.716	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		17	18	0	0	0	0.004007	0	17	18				
KLHL30	377007	broad.mit.edu	37	2	239059471	239059471	+	Missense_Mutation	SNP	G	G	A	rs576860427	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:239059471G>A	ENST00000409223.1	+	8	1609	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	KLHL30_ENST00000305959.4_Missense_Mutation_p.S483N			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	501								p.S501N(2)		lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCACAGCACAGCCTGCATGAG	0.672													G|||	3	0.000599042	0.0	0.0043	5008	,	,		16877	0.0		0.0	False		,,,				2504	0.0						uc002vxr.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1447-1449)AGC>AAC		kelch-like 30							17.0	22.0	21.0					2																	239059471		2186	4259	6445	SO:0001583	missense	377007							g.chr2:239059471G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1502G>A	2.37:g.239059471G>A	ENSP00000386389:p.Ser501Asn						p.S483N	NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	7	1481	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	501			Kelch 5.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.1448G>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336159	0.24253	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.68025	-0.3;-0.3	4.66	4.66	0.58398	Kelch-type beta propeller (1);	0.155218	0.56097	D	0.000037	T	0.55625	0.1932	L	0.41710	1.295	0.29480	N	0.856385	P	0.38922	0.651	B	0.38428	0.273	T	0.55250	-0.8170	10	0.27082	T	0.32	.	11.4174	0.49960	0.0:0.3041:0.6959:0.0	.	501	Q0D2K2	KLH30_HUMAN	N	501;483	ENSP00000386389:S501N;ENSP00000302386:S483N	ENSP00000302386:S483N	S	+	2	0	KLHL30	238724210	0.998000	0.40836	1.000000	0.80357	0.319000	0.28217	2.958000	0.49145	2.423000	0.82170	0.561000	0.74099	AGC		0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		4	3	0	0	0	0.009096	0	4	3				
ANKMY1	51281	broad.mit.edu	37	2	241439489	241439489	+	Nonsense_Mutation	SNP	C	C	A	rs201079582		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:241439489C>A	ENST00000272972.3	-	14	2639	c.2425G>T	c.(2425-2427)Gag>Tag	p.E809*	ANKMY1_ENST00000406958.1_Nonsense_Mutation_p.E570*|ANKMY1_ENST00000373318.2_Nonsense_Mutation_p.E588*|ANKMY1_ENST00000391987.1_Nonsense_Mutation_p.E809*|ANKMY1_ENST00000403283.1_Nonsense_Mutation_p.E711*|ANKMY1_ENST00000361678.4_Nonsense_Mutation_p.E585*|ANKMY1_ENST00000401804.1_Nonsense_Mutation_p.E898*|ANKMY1_ENST00000373320.4_Nonsense_Mutation_p.E579*	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	809							metal ion binding (GO:0046872)	p.E809*(2)|p.E585*(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGAACGTCTCGCGCTCTGCT	0.677																																							uc002vyz.1		NA																	4	Substitution - Nonsense(4)		lung(4)	central_nervous_system(1)	1						c.(2425-2427)GAG>TAG		ankyrin repeat and MYND domain containing 1							41.0	37.0	39.0					2																	241439489		2203	4300	6503	SO:0001587	stop_gained	51281						zinc ion binding	g.chr2:241439489C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2425G>T	2.37:g.241439489C>A	ENSP00000272972:p.Glu809*					ANKMY1_uc002vza.1_Nonsense_Mutation_p.E585*|ANKMY1_uc010fzd.1_Nonsense_Mutation_p.E898*|ANKMY1_uc002vzb.1_Nonsense_Mutation_p.E570*|ANKMY1_uc002vzc.1_Nonsense_Mutation_p.E588*|ANKMY1_uc002vzd.1_Nonsense_Mutation_p.E632*	p.E809*	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	14	2654	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	809					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Nonsense_Mutation	SNP	ENST00000272972.3	37	c.2425G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	c	38	6.881835	0.97908	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804	.	.	.	2.61	2.61	0.31194	.	0.353153	0.25256	U	0.031981	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.826	8.8958	0.35463	0.0:1.0:0.0:0.0	.	.	.	.	X	588;570;809;585;809;579;711;898	.	ENSP00000272972:E809X	E	-	1	0	ANKMY1	241088162	0.986000	0.35501	0.973000	0.42090	0.111000	0.19643	3.490000	0.53245	1.788000	0.52465	0.479000	0.44913	GAG		0.677	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		13	16	1	0	2.27111e-07	0.013537	2.64023e-07	13	16				
DUSP28	285193	broad.mit.edu	37	2	241500167	241500167	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:241500167C>G	ENST00000405954.1	+	1	449	c.66C>G	c.(64-66)gtC>gtG	p.V22V	DUSP28_ENST00000343217.2_Silent_p.V22V|ANKMY1_ENST00000406958.1_5'Flank|ANKMY1_ENST00000373318.2_5'Flank|ANKMY1_ENST00000405523.3_5'Flank|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000391987.1_5'Flank|ANKMY1_ENST00000403283.1_Silent_p.A67A|ANKMY1_ENST00000361678.4_5'Flank|ANKMY1_ENST00000401804.1_5'Flank|ANKMY1_ENST00000272972.3_5'Flank|ANKMY1_ENST00000373320.4_5'Flank|ANKMY1_ENST00000405002.1_5'UTR			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	22					JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V22V(1)		lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		TGGTGCGCGTCGCGCCCTCAC	0.746																																					Pancreas(150;1630 2604 23402 46829)	Pancreas(150;1630 2604 23402 46829)	uc002vzg.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(64-66)GTC>GTG		dual specificity phosphatase 28							4.0	5.0	4.0					2																	241500167		1240	2915	4155	SO:0001819	synonymous_variant	285193						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr2:241500167C>G	BC036198	CCDS33418.1	2q37.1	2011-06-09			ENSG00000188542	ENSG00000188542		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	33237	protein-coding gene	gene with protein product							Standard	XM_006712455		Approved	VHP, DUSP26	uc002vzg.3	Q4G0W2	OTTHUMG00000152310	ENST00000405954.1:c.66C>G	2.37:g.241500167C>G						ANKMY1_uc002vyz.1_5'Flank|ANKMY1_uc002vza.1_5'Flank|ANKMY1_uc010fzd.1_5'Flank|ANKMY1_uc002vzb.1_5'Flank|ANKMY1_uc002vzc.1_5'Flank|ANKMY1_uc002vzd.1_5'UTR|ANKMY1_uc010fze.1_5'UTR|ANKMY1_uc002vze.2_5'UTR|ANKMY1_uc002vzf.2_5'UTR|DUSP28_uc002vzh.2_Silent_p.V22V	p.V22V	NM_001033575	NP_001028747	Q4G0W2	DUS28_HUMAN		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)	1	697	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	22						Silent	SNP	ENST00000405954.1	37	c.66C>G	CCDS33418.1																																																																																				0.746	DUSP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325814.1	NM_001033575		4	5	0	0	0	0.000602	0	4	5				
DUSP28	285193	broad.mit.edu	37	2	241500430	241500430	+	Missense_Mutation	SNP	C	C	T	rs571854171	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:241500430C>T	ENST00000405954.1	+	1	712	c.329C>T	c.(328-330)tCg>tTg	p.S110L	DUSP28_ENST00000343217.2_Missense_Mutation_p.S110L|ANKMY1_ENST00000405523.3_5'Flank|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000403283.1_5'UTR|ANKMY1_ENST00000361678.4_5'Flank|ANKMY1_ENST00000405002.1_5'UTR			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	110	Tyrosine-protein phosphatase.				JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		CGCAGCCGCTCGGCCGCCGTC	0.736													C|||	2	0.000399361	0.0	0.0014	5008	,	,		8467	0.0		0.0	False		,,,				2504	0.001				Pancreas(150;1630 2604 23402 46829)	Pancreas(150;1630 2604 23402 46829)	uc002vzg.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(328-330)TCG>TTG		dual specificity phosphatase 28							4.0	5.0	4.0					2																	241500430		1071	2515	3586	SO:0001583	missense	285193						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr2:241500430C>T	BC036198	CCDS33418.1	2q37.1	2011-06-09			ENSG00000188542	ENSG00000188542		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	33237	protein-coding gene	gene with protein product							Standard	XM_006712455		Approved	VHP, DUSP26	uc002vzg.3	Q4G0W2	OTTHUMG00000152310	ENST00000405954.1:c.329C>T	2.37:g.241500430C>T	ENSP00000385885:p.Ser110Leu					ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.S110L	p.S110L	NM_001033575	NP_001028747	Q4G0W2	DUS28_HUMAN		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)	1	960	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	110			Tyrosine-protein phosphatase.			Missense_Mutation	SNP	ENST00000405954.1	37	c.329C>T	CCDS33418.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518144	0.96416	.	.	ENSG00000188542	ENST00000343217;ENST00000405954	T;T	0.72942	-0.7;-0.7	3.67	3.67	0.42095	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.89829	0.6828	H	0.98818	4.34	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.93242	0.6627	10	0.87932	D	0	.	13.2482	0.60036	0.0:1.0:0.0:0.0	.	110	Q4G0W2	DUS28_HUMAN	L	110	ENSP00000344235:S110L;ENSP00000385885:S110L	ENSP00000344235:S110L	S	+	2	0	DUSP28	241149103	1.000000	0.71417	0.985000	0.45067	0.888000	0.51559	7.039000	0.76544	2.053000	0.61076	0.460000	0.39030	TCG		0.736	DUSP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325814.1	NM_001033575		3	2	0	0	0	0.009096	0	3	2				
C20orf194	25943	broad.mit.edu	37	20	3262307	3262307	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:3262307C>T	ENST00000252032.9	-	28	2659	c.2592G>A	c.(2590-2592)atG>atA	p.M864I	C20orf194_ENST00000453730.2_3'UTR|RN7SL839P_ENST00000582912.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	864								p.M864I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTAGCAGCTCATGGGCTCCA	0.483																																							uc002wii.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2590-2592)ATG>ATA		hypothetical protein LOC25943							113.0	111.0	112.0					20																	3262307		2013	4178	6191	SO:0001583	missense	25943							g.chr20:3262307C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2592G>A	20.37:g.3262307C>T	ENSP00000252032:p.Met864Ile					C20orf194_uc002wij.3_Missense_Mutation_p.M603I|C20orf194_uc002wik.2_Missense_Mutation_p.M538I	p.M864I	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			28	2643	-			864					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2592G>A	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462155	0.43736	.	.	ENSG00000088854	ENST00000252032	T	0.17054	2.3	5.45	3.41	0.39046	.	0.156674	0.43919	D	0.000514	T	0.10766	0.0263	N	0.19112	0.55	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.06405	0.002;0.002	T	0.10019	-1.0648	10	0.38643	T	0.18	.	10.1575	0.42831	0.0:0.7874:0.1374:0.0752	.	603;864	Q0IIP3;Q5TEA3	.;CT194_HUMAN	I	864	ENSP00000252032:M864I	ENSP00000252032:M864I	M	-	3	0	C20orf194	3210307	0.415000	0.25416	1.000000	0.80357	0.671000	0.39405	-0.392000	0.07314	1.318000	0.45170	0.484000	0.47621	ATG		0.483	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		9	65	0	0	0	0.004482	0	9	65				
ATRN	8455	broad.mit.edu	37	20	3541497	3541497	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:3541497C>G	ENST00000262919.5	+	8	1460	c.1392C>G	c.(1390-1392)atC>atG	p.I464M	ATRN_ENST00000446916.2_Missense_Mutation_p.I464M	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	464					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.I464M(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCTGGTCATCTTTGGTCACT	0.443																																							uc002wim.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1390-1392)ATC>ATG		attractin isoform 1							253.0	215.0	228.0					20																	3541497		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3541497C>G	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1392C>G	20.37:g.3541497C>G	ENSP00000262919:p.Ile464Met					ATRN_uc002wil.2_Missense_Mutation_p.I464M	p.I464M	NM_139321	NP_647537	O75882	ATRN_HUMAN			8	1482	+			464			Extracellular (Potential).|Kelch 3.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.1392C>G	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404670	0.62288	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.75260	-0.92;-0.42	4.85	3.91	0.45181	Kelch-type beta propeller (1);	0.287492	0.35555	N	0.003135	T	0.71417	0.3337	L	0.47190	1.495	0.43647	D	0.996056	P;P	0.49090	0.552;0.919	B;P	0.46208	0.206;0.507	T	0.74041	-0.3792	10	0.59425	D	0.04	-12.7458	12.6563	0.56790	0.0:0.9192:0.0:0.0808	.	464;464	O75882;O75882-2	ATRN_HUMAN;.	M	464;464;390	ENSP00000262919:I464M;ENSP00000416587:I464M	ENSP00000262919:I464M	I	+	3	3	ATRN	3489497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.199000	0.32235	1.260000	0.44134	0.555000	0.69702	ATC		0.443	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		13	48	0	0	0	0.013537	0	13	48				
PRNP	5621	broad.mit.edu	37	20	4680383	4680383	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:4680383A>C	ENST00000379440.4	+	2	804	c.517A>C	c.(517-519)Aac>Cac	p.N173H	PRNP_ENST00000430350.2_Missense_Mutation_p.N173H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.N173H(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CAGCAACCAGAACAACTTTGT	0.493																																							uc002wku.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(517-519)AAC>CAC		prion protein preproprotein	Tetracycline(DB00759)						155.0	127.0	137.0					20																	4680383		2203	4300	6503	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680383A>C	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.517A>C	20.37:g.4680383A>C	ENSP00000368752:p.Asn173His					PRNP_uc002wkv.2_Missense_Mutation_p.N173H|PRNP_uc002wkw.2_Missense_Mutation_p.N173H|PRNP_uc002wkx.2_Missense_Mutation_p.N173H|PRNP_uc002wkt.1_Missense_Mutation_p.N143H|PRNP_uc002wky.2_Missense_Mutation_p.N173H|PRNP_uc010gbe.1_Missense_Mutation_p.N173H	p.N173H	NM_001080122	NP_001073591	P04156	PRIO_HUMAN			2	880	+			173			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.517A>C	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605465	0.66445	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-2.54	5.45	4.36	0.52297	Prion/Doppel protein, beta-ribbon domain (3);	0.077223	0.53938	D	0.000053	D	0.94522	0.8236	M	0.73962	2.25	0.36027	D	0.839139	D;D;D	0.76494	0.959;0.96;0.999	P;P;D	0.73708	0.804;0.879;0.981	D	0.95659	0.8713	10	0.87932	D	0	-3.7344	7.2646	0.26222	0.9032:0.0:0.0968:0.0	.	173;173;205	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	H	173;173;173;112;173	ENSP00000368752:N173H;ENSP00000399376:N173H;ENSP00000411599:N173H;ENSP00000415284:N173H	ENSP00000368752:N173H	N	+	1	0	PRNP	4628383	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.622000	0.54217	2.073000	0.62155	0.533000	0.62120	AAC		0.493	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		10	52	0	0	0	0.006214	0	10	52				
PLCB1	23236	broad.mit.edu	37	20	8745806	8745806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:8745806G>A	ENST00000338037.6	+	26	2758	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E911K|PLCB1_ENST00000378641.3_Missense_Mutation_p.E911K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	911					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.E911K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGACCATCGAAGAACTAAA	0.418																																							uc002wnb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2731-2733)GAA>AAA		phosphoinositide-specific phospholipase C beta 1							73.0	66.0	68.0					20																	8745806		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8745806G>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2731G>A	20.37:g.8745806G>A	ENSP00000338185:p.Glu911Lys					PLCB1_uc010zrb.1_Missense_Mutation_p.E810K|PLCB1_uc002wna.2_Missense_Mutation_p.E911K|PLCB1_uc002wnc.1_Missense_Mutation_p.E810K|PLCB1_uc002wnd.1_Missense_Mutation_p.E488K	p.E911K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			26	2734	+			911					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2731G>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	35	5.537490	0.96460	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.59772	0.24;0.24;0.24	5.78	5.78	0.91487	Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.953	T	0.77294	-0.2641	10	0.72032	D	0.01	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	911;911	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	911;911;911;831;831	ENSP00000367908:E911K;ENSP00000338185:E911K;ENSP00000367904:E911K	ENSP00000338185:E911K	E	+	1	0	PLCB1	8693806	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	9.420000	0.97426	2.894000	0.99253	0.655000	0.94253	GAA		0.418	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			7	29	0	0	0	0.00308	0	7	29				
LAMP5	24141	broad.mit.edu	37	20	9498764	9498764	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:9498764C>G	ENST00000246070.2	+	5	1045	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	LAMP5_ENST00000427562.2_Missense_Mutation_p.Q141E	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	185						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.Q185E(1)									GTGTCAAGCTCAACAAACCAT	0.522																																							uc002wni.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(553-555)CAA>GAA		chromosome 20 open reading frame 103 precursor							127.0	100.0	109.0					20																	9498764		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498764C>G	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.553C>G	20.37:g.9498764C>G	ENSP00000246070:p.Gln185Glu					C20orf103_uc010zrc.1_Missense_Mutation_p.Q141E	p.Q185E	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	782	+			185			Extracellular (Potential).		B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.553C>G	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410260	0.62399	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.26373	1.74;1.74	5.93	5.93	0.95920	.	0.240101	0.44285	D	0.000478	T	0.39332	0.1074	N	0.24115	0.695	0.80722	D	1	D;P	0.61697	0.99;0.906	D;B	0.72982	0.979;0.446	T	0.05007	-1.0912	9	.	.	.	-17.9099	20.3539	0.98825	0.0:1.0:0.0:0.0	.	141;185	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	E	185;141	ENSP00000246070:Q185E;ENSP00000406360:Q141E	.	Q	+	1	0	C20orf103	9446764	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.502000	0.66956	2.826000	0.97356	0.655000	0.94253	CAA		0.522	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		8	71	0	0	0	0.004482	0	8	71				
SNAP25	6616	broad.mit.edu	37	20	10286806	10286806	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:10286806G>T	ENST00000254976.2	+	8	793	c.582G>T	c.(580-582)gaG>gaT	p.E194D	SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.E194D|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	194	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)	p.E194D(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GAATTGATGAGGCCAACCAAC	0.483																																							uc002wnq.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(580-582)GAG>GAT		synaptosomal-associated protein 25 isoform	Botulinum Toxin Type A(DB00083)						134.0	103.0	114.0					20																	10286806		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.chr20:10286806G>T		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.582G>T	20.37:g.10286806G>T	ENSP00000254976:p.Glu194Asp					SNAP25_uc002wnr.1_Missense_Mutation_p.E194D|SNAP25_uc002wns.1_Missense_Mutation_p.E131D|SNAP25_uc010gca.1_Missense_Mutation_p.E194D|SNAP25_uc010gcb.1_Missense_Mutation_p.E131D|SNAP25_uc010gcc.1_Missense_Mutation_p.E88D	p.E194D	NM_130811	NP_570824	P60880	SNP25_HUMAN			8	794	+			194			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.582G>T	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	G	4.711	0.132225	0.08981	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	5.78	2.3	0.28687	Target SNARE coiled-coil domain (3);	0.093803	0.64402	D	0.000001	T	0.42223	0.1193	L	0.38175	1.15	0.58432	D	0.999998	B;B	0.15473	0.013;0.012	B;B	0.16722	0.013;0.016	T	0.17198	-1.0377	9	0.11794	T	0.64	-4.3467	10.8705	0.46881	0.3105:0.0:0.6895:0.0	.	194;194	P60880-2;P60880	.;SNP25_HUMAN	D	194	.	ENSP00000254976:E194D	E	+	3	2	SNAP25	10234806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.091000	0.30915	0.760000	0.33108	0.467000	0.42956	GAG		0.483	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		8	28	1	0	0.000442599	0.006214	0.000469777	8	28				
KIF16B	55614	broad.mit.edu	37	20	16359917	16359917	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:16359917C>T	ENST00000354981.2	-	19	2887	c.2730G>A	c.(2728-2730)caG>caA	p.Q910Q	KIF16B_ENST00000355755.3_Silent_p.Q910Q|KIF16B_ENST00000378003.2_Silent_p.Q136Q|KIF16B_ENST00000408042.1_Silent_p.Q910Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	910	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q910Q(4)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGGAGGTACTGTAGCTGGC	0.443																																							uc002wpg.1		NA																	4	Substitution - coding silent(4)		lung(4)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2728-2730)CAG>CAA		kinesin-like motor protein C20orf23							91.0	85.0	87.0					20																	16359917		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359917C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2730G>A	20.37:g.16359917C>T						KIF16B_uc002wpe.1_Silent_p.Q292Q|KIF16B_uc002wpf.1_Silent_p.Q292Q|KIF16B_uc010gch.1_Silent_p.Q910Q|KIF16B_uc010gci.1_Silent_p.Q910Q|KIF16B_uc010gcj.1_Silent_p.Q921Q	p.Q910Q	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	2888	-			910			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.2730G>A	CCDS13122.1																																																																																				0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		48	70	0	0	0	0.013114	0	48	70				
BFSP1	631	broad.mit.edu	37	20	17475142	17475142	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:17475142C>A	ENST00000377873.3	-	8	1614	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	BFSP1_ENST00000536626.1_Missense_Mutation_p.Q386H|BFSP1_ENST00000544874.1_Missense_Mutation_p.Q386H|BFSP1_ENST00000377868.2_Missense_Mutation_p.Q400H	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	525	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.Q525H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GCAGACCCACCTGCCCATTCT	0.547																																							uc002wpo.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1573-1575)CAG>CAT		filensin isoform 1							59.0	52.0	55.0					20																	17475142		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475142C>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1575G>T	20.37:g.17475142C>A	ENSP00000367104:p.Gln525His					BFSP1_uc002wpp.2_Missense_Mutation_p.Q400H|BFSP1_uc010zrn.1_Missense_Mutation_p.Q386H|BFSP1_uc010zro.1_Missense_Mutation_p.Q386H	p.Q525H	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			8	1614	-			525			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1575G>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001880	0.54254	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.21	-1.32	0.09201	.	0.556662	0.19787	N	0.106073	T	0.44787	0.1310	L	0.52573	1.65	0.09310	N	1	P;D	0.63880	0.911;0.993	P;P	0.56751	0.562;0.805	T	0.35773	-0.9775	10	0.66056	D	0.02	-3.1065	0.175	0.00117	0.2959:0.2263:0.146:0.3318	.	400;525	Q12934-2;Q12934	.;BFSP1_HUMAN	H	525;400;386;386	ENSP00000367104:Q525H;ENSP00000367099:Q400H;ENSP00000442522:Q386H;ENSP00000439870:Q386H	ENSP00000367099:Q400H	Q	-	3	2	BFSP1	17423142	0.218000	0.23608	0.031000	0.17742	0.057000	0.15508	0.318000	0.19504	0.175000	0.19841	0.655000	0.94253	CAG		0.547	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		31	58	1	0	7.26314e-15	0.007291	9.48389e-15	31	58				
RIN2	54453	broad.mit.edu	37	20	19955398	19955398	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:19955398C>G	ENST00000255006.6	+	8	1025	c.876C>G	c.(874-876)ctC>ctG	p.L292L	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	243					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.L292L(1)|p.L243L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TGCGTCAGCTCTGCCTTATAA	0.552																																							uc002wro.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(1)	5						c.(727-729)CTC>CTG		Ras and Rab interactor 2							73.0	76.0	75.0					20																	19955398		1939	4139	6078	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955398C>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.876C>G	20.37:g.19955398C>G						RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Silent_p.L37L	p.L243L	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			7	765	+			243					Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.729C>G	CCDS56182.1																																																																																				0.552	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			7	80	0	0	0	0.001984	0	7	80				
CRNKL1	51340	broad.mit.edu	37	20	20025969	20025969	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:20025969C>G	ENST00000377340.2	-	7	1298	c.1267G>C	c.(1267-1269)Gaa>Caa	p.E423Q	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E262Q|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E411Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	423	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E423Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGATTTTCTTCAAACTTGGCA	0.363																																							uc002wrs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1267-1269)GAA>CAA		crooked neck-like 1 protein							132.0	132.0	132.0					20																	20025969		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20025969C>G	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1267G>C	20.37:g.20025969C>G	ENSP00000366557:p.Glu423Gln						p.E423Q	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			7	1299	-			423			HAT 6.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1267G>C	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898182	0.91962	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.37752	1.18;1.18;1.18	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83125	-0.0116	10	0.87932	D	0	-24.7214	20.3594	0.98849	0.0:1.0:0.0:0.0	.	423	Q9BZJ0	CRNL1_HUMAN	Q	411;423;262	ENSP00000366544:E411Q;ENSP00000366557:E423Q;ENSP00000440733:E262Q	ENSP00000366544:E411Q	E	-	1	0	CRNKL1	19973969	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.816000	0.96949	0.563000	0.77884	GAA		0.363	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			16	89	0	0	0	0.004007	0	16	89				
XRN2	22803	broad.mit.edu	37	20	21346252	21346252	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:21346252C>G	ENST00000377191.3	+	26	2461	c.2366C>G	c.(2365-2367)tCc>tGc	p.S789C	XRN2_ENST00000430571.2_Missense_Mutation_p.S713C|XRN2_ENST00000539513.1_Missense_Mutation_p.S735C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	789					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S789C(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGGAAAAATCCAGCAATGGA	0.473																																							uc002wsf.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2365-2367)TCC>TGC		5'-3' exoribonuclease 2							104.0	104.0	104.0					20																	21346252		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21346252C>G	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2366C>G	20.37:g.21346252C>G	ENSP00000366396:p.Ser789Cys					XRN2_uc002wsg.1_Missense_Mutation_p.S713C|XRN2_uc010zsk.1_Missense_Mutation_p.S735C	p.S789C	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			26	2461	+			789					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2366C>G	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470753	0.63625	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.32272	1.46;1.46;1.46	5.85	4.91	0.64330	.	0.504438	0.21140	N	0.079481	T	0.30262	0.0759	L	0.47716	1.5	0.44880	D	0.997892	P	0.43287	0.802	B	0.40329	0.326	T	0.03910	-1.0993	10	0.39692	T	0.17	-13.0469	14.5275	0.67900	0.0:0.9304:0.0:0.0696	.	789	Q9H0D6	XRN2_HUMAN	C	789;713;735	ENSP00000366396:S789C;ENSP00000413548:S713C;ENSP00000441113:S735C	ENSP00000366396:S789C	S	+	2	0	XRN2	21294252	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.892000	0.39748	1.478000	0.48253	0.655000	0.94253	TCC		0.473	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		20	100	0	0	0	0.008871	0	20	100				
COX4I2	84701	broad.mit.edu	37	20	30232608	30232608	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30232608G>C	ENST00000376075.3	+	5	492	c.417G>C	c.(415-417)cgG>cgC	p.R139R	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)	p.R139R(2)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGGACGAGCGGAAAGCCCAGC	0.582																																							uc002wwj.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(415-417)CGG>CGC		cytochrome c oxidase subunit IV isoform 2							89.0	73.0	78.0					20																	30232608		2203	4300	6503	SO:0001819	synonymous_variant	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30232608G>C	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.417G>C	20.37:g.30232608G>C							p.R139R	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		5	492	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		139					Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	c.417G>C	CCDS13187.1																																																																																				0.582	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		11	47	0	0	0	0.010729	0	11	47				
HCK	3055	broad.mit.edu	37	20	30667605	30667605	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30667605G>C	ENST00000520553.1	+	6	640	c.394G>C	c.(394-396)Gac>Cac	p.D132H	HCK_ENST00000518730.1_Missense_Mutation_p.D131H|HCK_ENST00000538448.1_Missense_Mutation_p.D132H|HCK_ENST00000534862.1_Missense_Mutation_p.D133H|HCK_ENST00000375852.2_Missense_Mutation_p.D153H|HCK_ENST00000375862.2_Missense_Mutation_p.D152H	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	153	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D153H(2)|p.D132H(2)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CAGCCGGAAGGACGCAGAGCG	0.587																																							uc002wxh.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(457-459)GAC>CAC		hemopoietic cell kinase isoform p61HCK							54.0	49.0	51.0					20																	30667605		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30667605G>C	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.394G>C	20.37:g.30667605G>C	ENSP00000429848:p.Asp132His					HCK_uc010gdy.2_Missense_Mutation_p.D132H|HCK_uc002wxi.2_Missense_Mutation_p.D131H	p.D153H	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		6	628	+			153			SH2.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.457G>C	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519010	0.85495	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	4.21	4.21	0.49690	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	M	0.91038	3.17	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.984;0.991	D	0.96478	0.9354	10	0.87932	D	0	.	15.7164	0.77672	0.0:0.0:1.0:0.0	.	131;153	P08631-3;P08631	.;HCK_HUMAN	H	133;132;152;132;131;153	ENSP00000444986:D133H;ENSP00000441169:D132H;ENSP00000365022:D152H;ENSP00000429848:D132H;ENSP00000427757:D131H;ENSP00000365012:D153H	ENSP00000365012:D153H	D	+	1	0	HCK	30131266	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.191000	0.70037	0.462000	0.41574	GAC		0.587	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			10	26	0	0	0	0.010729	0	10	26				
PLAGL2	5326	broad.mit.edu	37	20	30784777	30784777	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:30784777C>G	ENST00000246229.4	-	3	1233	c.969G>C	c.(967-969)atG>atC	p.M323I		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	323					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M323I(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGGGTAGCTCATACCCATGG	0.567																																					Colon(163;15 1893 11280 16306 47518)	Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(967-969)ATG>ATC		pleiomorphic adenoma gene-like 2							94.0	97.0	96.0					20																	30784777		2203	4299	6502	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784777C>G		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.969G>C	20.37:g.30784777C>G	ENSP00000246229:p.Met323Ile						p.M323I	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1186	-			323					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.969G>C	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471853	0.43942	.	.	ENSG00000126003	ENST00000246229	T	0.08896	3.04	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	L	0.52905	1.665	0.80722	D	1	B	0.21520	0.057	B	0.30716	0.119	T	0.06058	-1.0848	10	0.34782	T	0.22	.	19.0205	0.92912	0.0:1.0:0.0:0.0	.	323	Q9UPG8	PLAL2_HUMAN	I	323	ENSP00000246229:M323I	ENSP00000246229:M323I	M	-	3	0	PLAGL2	30248438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.839000	0.69395	2.803000	0.96430	0.650000	0.86243	ATG		0.567	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		41	161	0	0	0	0.007835	0	41	161				
ASXL1	171023	broad.mit.edu	37	20	31016158	31016158	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:31016158C>A	ENST00000375687.4	+	6	828	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	ASXL1_ENST00000306058.5_Missense_Mutation_p.S130Y|ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	135					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S135Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCGAACGCATCCTGTTCTACA	0.493			"""F, N, Mis"""		"""MDS, CMML"""																																		uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(403-405)TCC>TAC		additional sex combs like 1 isoform 1							213.0	197.0	202.0					20																	31016158		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31016158C>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.404C>A	20.37:g.31016158C>A	ENSP00000364839:p.Ser135Tyr					ASXL1_uc002wxr.1_RNA|ASXL1_uc010geb.2_Missense_Mutation_p.S77Y	p.S135Y	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			5	830	+			135					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.404C>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711379	0.89112	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.18338	2.22;2.24	4.92	4.92	0.64577	.	0.055957	0.85682	D	0.000000	T	0.38054	0.1026	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.05273	-1.0895	10	0.62326	D	0.03	-15.1324	16.8646	0.86026	0.0:1.0:0.0:0.0	.	130;135	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	Y	135;135;135;125;130	ENSP00000364839:S135Y;ENSP00000305119:S130Y	ENSP00000305119:S130Y	S	+	2	0	ASXL1	30479819	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.619000	0.67729	2.733000	0.93635	0.561000	0.74099	TCC		0.493	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		29	126	1	0	7.01153e-11	0.007291	8.67924e-11	29	126				
NECAB3	63941	broad.mit.edu	37	20	32248157	32248157	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32248157G>C	ENST00000246190.6	-	6	487	c.432C>G	c.(430-432)ttC>ttG	p.F144L	RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Missense_Mutation_p.F144L|NECAB3_ENST00000606525.1_5'UTR|C20orf144_ENST00000375222.3_5'Flank	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	144					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CCCGCAGCAGGAAGCGCGTCA	0.637																																							uc002wzn.3		NA																	0				lung(1)	1						c.(430-432)TTC>TTG		N-terminal EF-hand calcium binding protein 3							50.0	56.0	54.0					20																	32248157		2073	4214	6287	SO:0001583	missense	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32248157G>C	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.432C>G	20.37:g.32248157G>C	ENSP00000246190:p.Phe144Leu					NECAB3_uc002wzl.2_5'UTR|NECAB3_uc002wzm.3_Missense_Mutation_p.F144L|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Missense_Mutation_p.F95L|NECAB3_uc002wzq.3_Missense_Mutation_p.F144L|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Missense_Mutation_p.F144L|C20orf144_uc002wzs.1_5'Flank	p.F144L	NM_031232	NP_112509	Q96P71	NECA3_HUMAN			6	538	-			144					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	c.432C>G	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058611	0.76074	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.43294	1.44;1.54;0.95	5.1	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.987;0.998;0.999;1.0	T	0.71823	-0.4476	10	0.72032	D	0.01	-2.489	13.6546	0.62330	0.0768:0.0:0.9232:0.0	.	144;21;144;144	Q96P71-3;E1P5N3;Q96P71;Q96P71-2	.;.;NECA3_HUMAN;.	L	144	ENSP00000364386:F144L;ENSP00000246190:F144L;ENSP00000392064:F144L	ENSP00000246190:F144L	F	-	3	2	NECAB3	31711818	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	2.050000	0.41297	1.119000	0.41883	0.561000	0.74099	TTC		0.637	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			9	90	0	0	0	0.004482	0	9	90				
CHMP4B	128866	broad.mit.edu	37	20	32436305	32436305	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32436305T>C	ENST00000217402.2	+	2	388	c.223T>C	c.(223-225)Tat>Cat	p.Y75H		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	75					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.Y75H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TAAGAAGAGGTATGAGAAGCA	0.567																																							uc002xaa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(223-225)TAT>CAT		chromatin modifying protein 4B							76.0	61.0	66.0					20																	32436305		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32436305T>C	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.223T>C	20.37:g.32436305T>C	ENSP00000217402:p.Tyr75His						p.Y75H	NM_176812	NP_789782	Q9H444	CHM4B_HUMAN			2	379	+			75			Potential.		E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.223T>C	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.842925	0.71488	.	.	ENSG00000101421	ENST00000217402	T	0.73789	-0.78	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	L	0.49455	1.56	0.80722	D	1	B	0.28552	0.215	B	0.39465	0.3	T	0.71774	-0.4491	10	0.33940	T	0.23	-6.3542	16.0964	0.81127	0.0:0.0:0.0:1.0	.	75	Q9H444	CHM4B_HUMAN	H	75	ENSP00000217402:Y75H	ENSP00000217402:Y75H	Y	+	1	0	CHMP4B	31899966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.205000	0.71048	0.482000	0.46254	TAT		0.567	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			10	48	0	0	0	0.008291	0	10	48				
ASIP	434	broad.mit.edu	37	20	32848288	32848288	+	Silent	SNP	G	G	A	rs527697334		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:32848288G>A	ENST00000568305.1	+	2	310	c.108G>A	c.(106-108)ctG>ctA	p.L36L	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.L36L			P42127	ASIP_HUMAN	agouti signaling protein	36					adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)	p.L36L(1)		central_nervous_system(1)|lung(2)	3						ACAGGAGCCTGAGAAGCAACT	0.582																																							uc002xah.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(106-108)CTG>CTA		agouti signaling protein precursor							161.0	147.0	152.0					20																	32848288		2203	4300	6503	SO:0001819	synonymous_variant	434				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		g.chr20:32848288G>A		CCDS13232.1	20q11.2-q12	2010-06-24	2010-06-24		ENSG00000101440	ENSG00000101440			745	protein-coding gene	gene with protein product	"""nonagouti homolog (mouse)"""	600201	"""agouti (mouse)-signaling protein"", ""agouti signaling protein, nonagouti homolog (mouse)"""	AGTIL		7937887, 7757071	Standard	NM_001672		Approved	ASP	uc002xah.1	P42127	OTTHUMG00000032289	ENST00000568305.1:c.108G>A	20.37:g.32848288G>A							p.L36L	NM_001672	NP_001663	P42127	ASIP_HUMAN			1	118	+			36					Q3SXL2	Silent	SNP	ENST00000568305.1	37	c.108G>A	CCDS13232.1																																																																																				0.582	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430541.1			16	116	0	0	0	0.00499	0	16	116				
NCOA6	23054	broad.mit.edu	37	20	33328826	33328826	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:33328826G>A	ENST00000374796.2	-	12	7804	c.5234C>T	c.(5233-5235)tCc>tTc	p.S1745F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1745F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1745	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S1745F(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACAAGGAGGGGAAGGAAGCTG	0.542																																							uc002xav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(5233-5235)TCC>TTC		nuclear receptor coactivator 6							89.0	93.0	92.0					20																	33328826		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33328826G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5234C>T	20.37:g.33328826G>A	ENSP00000363929:p.Ser1745Phe					NCOA6_uc002xaw.2_Missense_Mutation_p.S1745F	p.S1745F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			12	7805	-			1745			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.5234C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673640	0.67928	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.27720	1.65;1.65	5.54	5.54	0.83059	.	0.079885	0.53938	D	0.000044	T	0.42832	0.1220	N	0.24115	0.695	0.43480	D	0.995707	D	0.71674	0.998	D	0.63488	0.915	T	0.37033	-0.9723	10	0.87932	D	0	-8.4467	19.6787	0.95950	0.0:0.0:1.0:0.0	.	1745	Q14686	NCOA6_HUMAN	F	1745	ENSP00000363929:S1745F;ENSP00000351894:S1745F	ENSP00000351894:S1745F	S	-	2	0	NCOA6	32792487	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	7.730000	0.84881	2.884000	0.98904	0.655000	0.94253	TCC		0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		19	38	0	0	0	0.007413	0	19	38				
FAM83C	128876	broad.mit.edu	37	20	33875629	33875629	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:33875629G>C	ENST00000374408.3	-	4	1049	c.953C>G	c.(952-954)tCt>tGt	p.S318C	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	318										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCCCGGGGAGACAGCGGGTC	0.667																																							uc010zux.1		NA																	0				ovary(2)	2						c.(952-954)TCT>TGT		hypothetical protein LOC128876							54.0	50.0	52.0					20																	33875629		2189	4292	6481	SO:0001583	missense	128876							g.chr20:33875629G>C	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.953C>G	20.37:g.33875629G>C	ENSP00000363529:p.Ser318Cys					FAM83C_uc002xcb.1_Intron	p.S318C	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1071	-			318					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.953C>G	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	7.201	0.593574	0.13875	.	.	ENSG00000125998	ENST00000374408	T	0.07800	3.16	4.24	2.27	0.28462	.	1.422760	0.04794	N	0.432122	T	0.12902	0.0313	L	0.57536	1.79	0.09310	N	1	D	0.55172	0.97	B	0.43916	0.436	T	0.30031	-0.9992	10	0.56958	D	0.05	-1.128	7.4872	0.27441	0.2884:0.0:0.7116:0.0	.	318	Q9BQN1	FA83C_HUMAN	C	318	ENSP00000363529:S318C	ENSP00000363529:S318C	S	-	2	0	FAM83C	33339043	0.076000	0.21285	0.010000	0.14722	0.249000	0.25844	1.521000	0.35910	0.529000	0.28599	0.561000	0.74099	TCT		0.667	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			5	19	0	0	0	0.000602	0	5	19				
RBM39	9584	broad.mit.edu	37	20	34295058	34295058	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:34295058T>C	ENST00000253363.6	-	14	1314	c.1291A>G	c.(1291-1293)Atg>Gtg	p.M431V	RBM39_ENST00000528062.3_Missense_Mutation_p.M409V|RBM39_ENST00000407261.4_Missense_Mutation_p.M274V|RBM39_ENST00000361162.6_Missense_Mutation_p.M425V			Q14498	RBM39_HUMAN	RNA binding motif protein 39	431	Interaction with NCOA6. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M431V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGGTTAAACATGTTAGAGAGT	0.323																																							uc002xeb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1291-1293)ATG>GTG		RNA binding motif protein 39 isoform a							71.0	73.0	72.0					20																	34295058		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34295058T>C	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1291A>G	20.37:g.34295058T>C	ENSP00000253363:p.Met431Val					RBM39_uc002xdz.2_Missense_Mutation_p.M407V|RBM39_uc002xea.2_Missense_Mutation_p.M274V|RBM39_uc010gfn.2_Missense_Mutation_p.M274V|RBM39_uc010zvm.1_Missense_Mutation_p.M403V|RBM39_uc002xeg.2_Missense_Mutation_p.M409V|RBM39_uc002xec.2_Missense_Mutation_p.M425V|RBM39_uc002xed.2_Missense_Mutation_p.M149V|RBM39_uc002xee.2_Missense_Mutation_p.M274V|RBM39_uc002xef.2_Missense_Mutation_p.M268V|RBM39_uc010zvn.1_Missense_Mutation_p.M274V	p.M431V	NM_184234	NP_909122	Q14498	RBM39_HUMAN			14	1635	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		431			Interaction with NCOA6 (By similarity).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.1291A>G	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.26|16.26	3.071858|3.071858	0.55646|0.55646	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000448303|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	.|T;T;T;T	.|0.58797	.|0.31;0.31;0.31;0.31	4.65|4.65	4.65|4.65	0.58169|0.58169	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.043196	.|0.85682	.|D	.|0.000000	T|T	0.75693|0.75693	0.3884|0.3884	M|M	0.89601|0.89601	3.045|3.045	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;D;P;P	.|0.53885	.|0.881;0.881;0.963;0.881;0.801	.|B;B;P;B;B	.|0.56700	.|0.385;0.385;0.804;0.385;0.408	T|T	0.81182|0.81182	-0.1049|-0.1049	5|10	.|0.54805	.|T	.|0.06	.|.	14.2276|14.2276	0.65871|0.65871	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|403;409;425;431;407	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	R|V	281|431;425;409;274	.|ENSP00000253363:M431V;ENSP00000354437:M425V;ENSP00000436747:M409V;ENSP00000384541:M274V	.|ENSP00000253363:M431V	H|M	-|-	2|1	0|0	RBM39|RBM39	33758472|33758472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.851000|0.851000	0.48451|0.48451	4.574000|4.574000	0.60900|0.60900	1.958000|1.958000	0.56883|0.56883	0.482000|0.482000	0.46254|0.46254	CAT|ATG		0.323	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		6	13	0	0	0	0.001168	0	6	13				
RPRD1B	58490	broad.mit.edu	37	20	36694555	36694555	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:36694555G>T	ENST00000373433.4	+	6	1130	c.728G>T	c.(727-729)cGc>cTc	p.R243L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	243					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R243L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TATAACGGGCGCCTGGCAGCA	0.448																																							uc002xho.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(727-729)CGC>CTC		Regulation of nuclear pre-mRNA domain containing							83.0	97.0	92.0					20																	36694555		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36694555G>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.728G>T	20.37:g.36694555G>T	ENSP00000362532:p.Arg243Leu					RPRD1B_uc002xhp.3_RNA	p.R243L	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			6	1130	+			243					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.728G>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922548	0.92319	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.35	5.35	0.76521	.	0.051128	0.85682	D	0.000000	T	0.78817	0.4343	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.75844	-0.3174	9	0.36615	T	0.2	-8.2751	18.5892	0.91202	0.0:0.0:1.0:0.0	.	243	Q9NQG5	RPR1B_HUMAN	L	243;125	.	ENSP00000362532:R243L	R	+	2	0	RPRD1B	36127969	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	CGC		0.448	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		19	99	1	0	1.33834e-09	0.007413	1.62889e-09	19	99				
KIAA1755	85449	broad.mit.edu	37	20	36870200	36870201	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:36870200_36870201GG>AT	ENST00000279024.4	-	3	603_604	c.332_333CC>AT	c.(331-333)cCC>cAT	p.P111H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	111								p.P111H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTCCTCCTGGGGCTCCACTTG	0.559																																							uc002xhy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(331-333)CCC>CAT		hypothetical protein LOC85449																																				SO:0001583	missense	85449							g.chr20:36870200_36870201GG>AT	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.332_333delinsAT	20.37:g.36870200_36870201delinsAT	ENSP00000279024:p.Pro111His					KIAA1755_uc002xhz.1_Missense_Mutation_p.P111H	p.P111H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	604_605	-		Myeloproliferative disorder(115;0.00874)	111					Q9C0A8	Missense_Mutation	DNP	ENST00000279024.4	37	c.332_333CC>AT	CCDS33467.1																																																																																				0.559	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		20	117	0	0	0	0.004672	0	20	117				
RALGAPB	57148	broad.mit.edu	37	20	37121587	37121587	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:37121587G>A	ENST00000262879.6	+	3	485	c.201G>A	c.(199-201)atG>atA	p.M67I	RALGAPB_ENST00000397040.1_Missense_Mutation_p.M67I|RALGAPB_ENST00000537204.1_Missense_Mutation_p.M67I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.M67I|RALGAPB_ENST00000397038.1_5'UTR			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	67					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.M67I(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AATGGACCATGGAAGTAATTT	0.348																																							uc002xiw.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(199-201)ATG>ATA		Ral GTPase activating protein, beta subunit							159.0	162.0	161.0					20																	37121587		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37121587G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.201G>A	20.37:g.37121587G>A	ENSP00000262879:p.Met67Ile					RALGAPB_uc010zvz.1_Missense_Mutation_p.M67I|RALGAPB_uc002xix.2_Missense_Mutation_p.M67I|RALGAPB_uc002xiy.1_Missense_Mutation_p.M67I|RALGAPB_uc002xiz.2_5'UTR	p.M67I	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			3	458	+			67					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.201G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222701	0.95139	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.53745	0.962;0.962;0.962;0.962	D;D;D;D	0.66716	0.946;0.946;0.946;0.946	T	0.82926	-0.0215	9	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	67;67;67;67	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	I	67	.	ENSP00000262879:M67I	M	+	3	0	RALGAPB	36555001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ATG		0.348	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		18	46	0	0	0	0.00499	0	18	46				
SLC32A1	140679	broad.mit.edu	37	20	37357156	37357156	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:37357156G>T	ENST00000217420.1	+	2	1715	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	484					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.K484N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCTGGCGCAAGCTGCTGTGGC	0.652																																							uc002xjc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1450-1452)AAG>AAT		solute carrier family 32, member 1	Glycine(DB00145)						28.0	28.0	28.0					20																	37357156		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357156G>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1452G>T	20.37:g.37357156G>T	ENSP00000217420:p.Lys484Asn						p.K484N	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1715	+		Myeloproliferative disorder(115;0.00878)	484			Lumenal, vesicle (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1452G>T	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695355	0.30052	.	.	ENSG00000101438	ENST00000217420	T	0.02606	4.23	4.95	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.02767	0.0083	L	0.39020	1.185	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49854	-0.8895	10	0.24483	T	0.36	-19.1223	10.0695	0.42324	0.1793:0.0:0.8207:0.0	.	484	Q9H598	VIAAT_HUMAN	N	484	ENSP00000217420:K484N	ENSP00000217420:K484N	K	+	3	2	SLC32A1	36790570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.546000	0.67243	1.214000	0.43395	0.655000	0.94253	AAG		0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		26	42	1	0	7.07758e-08	0.004656	8.34821e-08	26	42				
PPP1R16B	26051	broad.mit.edu	37	20	37546891	37546891	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:37546891G>T	ENST00000299824.1	+	11	1475	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R387L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	429					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.R429L(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AATGGCCTCCGGGCTCCGGTC	0.597																																							uc002xje.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(1285-1287)CGG>CTG		protein phosphatase 1 regulatory inhibitor							158.0	153.0	155.0					20																	37546891		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37546891G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1286G>T	20.37:g.37546891G>T	ENSP00000299824:p.Arg429Leu					PPP1R16B_uc010ggc.2_Missense_Mutation_p.R387L	p.R429L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			11	1475	+		Myeloproliferative disorder(115;0.00878)	429					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1286G>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.62|12.62	1.991598|1.991598	0.35131|0.35131	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.70749	.|-0.31;-0.51	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.269429	.|0.36066	.|N	.|0.002804	T|T	0.52693|0.52693	0.1750|0.1750	N|N	0.22421|0.22421	0.69|0.69	0.24058|0.24058	N|N	0.996026|0.996026	.|B;B	.|0.15719	.|0.008;0.014	.|B;B	.|0.15484	.|0.004;0.013	T|T	0.31613|0.31613	-0.9937|-0.9937	5|10	.|0.28530	.|T	.|0.3	.|.	7.4121|7.4121	0.27023|0.27023	0.0843:0.0:0.7365:0.1792|0.0843:0.0:0.7365:0.1792	.|.	.|387;429	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	W|L	330|429;387	.|ENSP00000299824:R429L;ENSP00000362428:R387L	.|ENSP00000299824:R429L	G|R	+|+	1|2	0|0	PPP1R16B|PPP1R16B	36980305|36980305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.391000|2.391000	0.44424|0.44424	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		83	273	1	0	8.6486e-37	0.01441	1.21214e-36	83	273				
EMILIN3	90187	broad.mit.edu	37	20	39990940	39990940	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:39990940G>A	ENST00000332312.3	-	4	1461	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	423						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.L423L(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TGGCAGCAGAGAGCCTCGTAA	0.642																																							uc002xjy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1267-1269)CTC>CTT		elastin microfibril interfacer 3							71.0	73.0	73.0					20																	39990940		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39990940G>A	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1269C>T	20.37:g.39990940G>A							p.L423L	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	1493	-		Myeloproliferative disorder(115;0.00425)	423					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1269C>T	CCDS13316.1																																																																																				0.642	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		22	121	0	0	0	0.014323	0	22	121				
CHD6	84181	broad.mit.edu	37	20	40118549	40118549	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:40118549G>A	ENST00000373233.3	-	12	1726	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	CHD6_ENST00000309279.7_Missense_Mutation_p.P517S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	517	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.P517S(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGAGAGAGGGGCGATAATG	0.507																																							uc002xka.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(1549-1551)CCT>TCT		chromodomain helicase DNA binding protein 6							136.0	133.0	134.0					20																	40118549		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118549G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1549C>T	20.37:g.40118549G>A	ENSP00000362330:p.Pro517Ser					CHD6_uc002xkd.2_Missense_Mutation_p.P495S	p.P517S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			12	1727	-		Myeloproliferative disorder(115;0.00425)	517			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1549C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910880	0.92178	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	D;D	0.97959	-4.63;-4.63	5.27	5.27	0.74061	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000033	D	0.99411	0.9792	H	0.99498	4.595	0.80722	D	1	D	0.56287	0.975	D	0.69824	0.966	D	0.98054	1.0389	10	0.87932	D	0	-10.9312	19.2491	0.93914	0.0:0.0:1.0:0.0	.	517	Q8TD26	CHD6_HUMAN	S	517	ENSP00000362330:P517S;ENSP00000308684:P517S	ENSP00000308684:P517S	P	-	1	0	CHD6	39551963	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.775000	0.98995	2.608000	0.88229	0.650000	0.86243	CCT		0.507	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			32	72	0	0	0	0.009535	0	32	72				
SLPI	6590	broad.mit.edu	37	20	43881764	43881764	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:43881764C>A	ENST00000338380.2	-	3	293	c.273G>T	c.(271-273)gtG>gtT	p.V91V		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	91	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V91V(1)		lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGCCATAAGTCACTGGGCACT	0.517																																					GBM(64;162 1089 31780 33427 34538)	GBM(64;162 1089 31780 33427 34538)	uc002xnm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(271-273)GTG>GTT		secretory leukocyte peptidase inhibitor							112.0	99.0	103.0					20																	43881764		2203	4300	6503	SO:0001819	synonymous_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881764C>A	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.273G>T	20.37:g.43881764C>A							p.V91V	NM_003064	NP_003055	P03973	SLPI_HUMAN			3	295	-		Myeloproliferative disorder(115;0.0122)	91			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Silent	SNP	ENST00000338380.2	37	c.273G>T	CCDS13347.1																																																																																				0.517	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			23	73	1	0	0.00395357	0.003954	0.00410335	23	73				
PIGT	51604	broad.mit.edu	37	20	44054330	44054330	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:44054330C>G	ENST00000279036.6	+	12	1681	c.1601C>G	c.(1600-1602)aCt>aGt	p.T534S	PIGT_ENST00000543458.2_Missense_Mutation_p.T478S|PIGT_ENST00000279035.9_Missense_Mutation_p.T432S|PIGT_ENST00000545755.1_Missense_Mutation_p.T272S|PIGT_ENST00000341555.5_Missense_Mutation_p.T340S|PIGT_ENST00000372689.5_Missense_Mutation_p.T467S|PIGT_ENST00000535404.1_Missense_Mutation_p.T379S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	534					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.T534S(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTCACGTGCACTGTGGTGGCC	0.612																																							uc002xoh.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1600-1602)ACT>AGT		phosphatidylinositol glycan anchor biosynthesis,							76.0	50.0	59.0					20																	44054330		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44054330C>G		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1601C>G	20.37:g.44054330C>G	ENSP00000279036:p.Thr534Ser					PIGT_uc002xoj.1_Missense_Mutation_p.T467S|PIGT_uc002xok.1_Missense_Mutation_p.T499S|PIGT_uc010zwu.1_Missense_Mutation_p.T272S|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.T272S|PIGT_uc010zww.1_Missense_Mutation_p.T478S|PIGT_uc010zwx.1_Missense_Mutation_p.T369S|PIGT_uc010zwy.1_Missense_Mutation_p.T432S|PIGT_uc010zwz.1_Missense_Mutation_p.T272S|PIGT_uc010zxa.1_Missense_Mutation_p.T372S|PIGT_uc002xol.1_Missense_Mutation_p.T323S|PIGT_uc010zxb.1_Missense_Mutation_p.T210S|PIGT_uc002xom.1_Missense_Mutation_p.T126S	p.T534S	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			12	1674	+		Myeloproliferative disorder(115;0.0122)	534			Helical; (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.1601C>G	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320304	0.95682	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.81936	0.4928	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;0.998;0.994;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.966;0.998;0.998;0.999;0.987;0.958;0.998;0.998	T	0.82287	-0.0532	10	0.59425	D	0.04	-21.8617	19.5705	0.95413	0.0:1.0:0.0:0.0	.	372;432;379;478;379;323;272;210;534	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7Z1F1;Q969N2-3;B7Z1N3;B7Z4T7;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	S	478;467;432;534;272;340;379	ENSP00000441577:T478S;ENSP00000361774:T467S;ENSP00000279035:T432S;ENSP00000279036:T534S;ENSP00000443963:T272S;ENSP00000343783:T340S;ENSP00000440528:T379S	ENSP00000279035:T432S	T	+	2	0	PIGT	43487744	1.000000	0.71417	0.972000	0.41901	0.949000	0.60115	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	ACT		0.612	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		8	62	0	0	0	0.00308	0	8	62				
ELMO2	63916	broad.mit.edu	37	20	45002126	45002126	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:45002126C>A	ENST00000290246.6	-	16	1522	c.1328G>T	c.(1327-1329)cGa>cTa	p.R443L	ELMO2_ENST00000454865.2_Missense_Mutation_p.R175L|ELMO2_ENST00000396391.1_Missense_Mutation_p.R443L|ELMO2_ENST00000372176.1_Missense_Mutation_p.R355L|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000352077.2_Missense_Mutation_p.R441L|ELMO2_ENST00000439931.2_Missense_Mutation_p.R455L|ELMO2_ENST00000445496.2_Missense_Mutation_p.R260L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	443	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.R443L(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCAAAGGCTCGGTCATGGGT	0.498																																							uc002xrt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1327-1329)CGA>CTA		engulfment and cell motility 2							143.0	119.0	127.0					20																	45002126		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45002126C>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1328G>T	20.37:g.45002126C>A	ENSP00000290246:p.Arg443Leu					ELMO2_uc010zxq.1_Missense_Mutation_p.R175L|ELMO2_uc002xrs.1_Missense_Mutation_p.R190L|ELMO2_uc002xru.1_Missense_Mutation_p.R443L|ELMO2_uc010zxr.1_Missense_Mutation_p.R455L|ELMO2_uc010zxs.1_Missense_Mutation_p.R260L|ELMO2_uc002xrv.1_Missense_Mutation_p.R162L|ELMO2_uc002xrw.2_Missense_Mutation_p.R260L	p.R443L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			16	1538	-		Myeloproliferative disorder(115;0.0122)	443			ELMO.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1328G>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915445	0.73098	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546	T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.1	5.1	0.69264	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	L	0.48642	1.525	0.80722	D	1	P;P;P;P;B	0.46512	0.485;0.638;0.879;0.879;0.249	P;B;P;P;B	0.52823	0.499;0.421;0.71;0.642;0.23	T	0.28299	-1.0048	10	0.62326	D	0.03	-9.0416	17.6874	0.88259	0.0:1.0:0.0:0.0	.	455;175;443;260;443	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	L	443;355;10;443;455;260;175;441;231	ENSP00000290246:R443L;ENSP00000361249:R355L;ENSP00000414329:R10L;ENSP00000379673:R443L;ENSP00000396519:R455L;ENSP00000409920:R260L;ENSP00000415641:R175L;ENSP00000326172:R441L;ENSP00000388962:R231L	ENSP00000290246:R443L	R	-	2	0	ELMO2	44435533	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	4.827000	0.62723	2.644000	0.89710	0.561000	0.74099	CGA		0.498	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		18	56	1	0	5.3912e-06	0.006122	6.04481e-06	18	56				
ZMYND8	23613	broad.mit.edu	37	20	45848953	45848953	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:45848953C>G	ENST00000311275.7	-	21	3633	c.3380G>C	c.(3379-3381)aGa>aCa	p.R1127T	ZMYND8_ENST00000540497.1_Missense_Mutation_p.R1075T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R995T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R1081T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R1101T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R1127T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R1154T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R1101T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R1127T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R1147T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R1076T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R1018T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R1049T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1127					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.R1101T(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGCGTCTCTCTGGAGCCAGA	0.532											OREG0026003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002xta.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(3379-3381)AGA>ACA		zinc finger, MYND-type containing 8 isoform b							64.0	59.0	60.0					20																	45848953		2198	4282	6480	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45848953C>G	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3380G>C	20.37:g.45848953C>G	ENSP00000312237:p.Arg1127Thr		OREG0026003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	934	ZMYND8_uc010ghq.1_Intron|ZMYND8_uc010ghr.1_Missense_Mutation_p.R1029T|ZMYND8_uc002xst.1_Missense_Mutation_p.R1009T|ZMYND8_uc002xsu.1_Missense_Mutation_p.R1000T|ZMYND8_uc002xsv.1_Missense_Mutation_p.R1055T|ZMYND8_uc002xsw.1_Missense_Mutation_p.R833T|ZMYND8_uc002xsx.1_Missense_Mutation_p.R833T|ZMYND8_uc002xsy.1_Missense_Mutation_p.R1056T|ZMYND8_uc002xsz.1_Missense_Mutation_p.R1018T|ZMYND8_uc010zxy.1_Missense_Mutation_p.R1154T|ZMYND8_uc002xtb.1_Missense_Mutation_p.R1101T|ZMYND8_uc002xss.2_Missense_Mutation_p.R1127T|ZMYND8_uc010zxz.1_Missense_Mutation_p.R995T|ZMYND8_uc002xtc.1_Missense_Mutation_p.R1101T|ZMYND8_uc002xtd.1_Missense_Mutation_p.R1076T|ZMYND8_uc002xte.1_Missense_Mutation_p.R1081T|ZMYND8_uc010zya.1_Missense_Mutation_p.R1127T|ZMYND8_uc002xtf.1_Missense_Mutation_p.R1147T|ZMYND8_uc002xsr.1_Missense_Mutation_p.R226T	p.R1127T	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		21	3634	-			1127					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.3380G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.05|14.05	2.419557|2.419557	0.42918|0.42918	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89415	.|-1.64;-1.53;-1.63;-1.53;-1.64;-1.54;-1.54;-2.51;-1.55;-1.67;-1.64	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|0.332419	.|0.24534	.|N	.|0.037692	D|D	0.90676|0.90676	0.7075|0.7075	L|L	0.36672|0.36672	1.1|1.1	0.30579|0.30579	N|N	0.762748|0.762748	.|D;P;P;P;P;D;D;P;D;B;B;D;D;D;D	.|0.63046	.|0.967;0.799;0.514;0.835;0.799;0.981;0.992;0.799;0.987;0.179;0.179;0.987;0.971;0.967;0.987	.|P;B;B;P;B;D;D;P;D;B;B;D;P;P;D	.|0.71656	.|0.879;0.364;0.096;0.466;0.371;0.943;0.974;0.466;0.942;0.052;0.036;0.942;0.79;0.879;0.942	D|D	0.87842|0.87842	0.2652|0.2652	5|10	.|0.66056	.|D	.|0.02	-4.6249|-4.6249	13.1617|13.1617	0.59548|0.59548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|995;1154;1049;1147;1081;1076;1101;1101;1127;1018;1076;1075;1020;1029;1127	.|B7ZM62;F5H0X3;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	H|T	1008|1076;1127;995;1082;1148;1101;1127;1154;1127;1018;1101;1049;1075	.|ENSP00000354166:R1076T;ENSP00000312237:R1127T;ENSP00000392964:R995T;ENSP00000335537:R1101T;ENSP00000379577:R1127T;ENSP00000439800:R1154T;ENSP00000348246:R1127T;ENSP00000396725:R1018T;ENSP00000418210:R1101T;ENSP00000361093:R1049T;ENSP00000443086:R1075T	.|ENSP00000262975:R1082T	Q|R	-|-	3|2	2|0	ZMYND8|ZMYND8	45282360|45282360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	0.970000|0.970000	0.29383|0.29383	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.532	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		2	7	0	0	0	0.004672	0	2	7				
ZNFX1	57169	broad.mit.edu	37	20	47886918	47886918	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:47886918G>C	ENST00000396105.1	-	3	1677	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L	ZNFX1_ENST00000371752.1_Silent_p.L477L|ZNFX1_ENST00000371754.4_Silent_p.L477L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	477							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L477L(2)|p.L281L(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCTCGGCAGAGATCTTCCT	0.483																																							uc002xui.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(1429-1431)CTC>CTG		zinc finger, NFX1-type containing 1							103.0	100.0	101.0					20																	47886918		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47886918G>C	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1431C>G	20.37:g.47886918G>C							p.L477L	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1678	-			477					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.1431C>G	CCDS13417.1																																																																																				0.483	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		16	93	0	0	0	0.004007	0	16	93				
BCAS4	55653	broad.mit.edu	37	20	49458380	49458380	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:49458380C>T	ENST00000358791.5	+	4	532	c.432C>T	c.(430-432)gcC>gcT	p.A144A	BCAS4_ENST00000371608.2_Silent_p.A144A|BCAS4_ENST00000609336.1_Silent_p.A114A|BCAS4_ENST00000262591.5_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	144						cytoplasm (GO:0005737)		p.A144A(6)		large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACCATGGGGCCTTCCCTCAGG	0.652																																							uc002xvq.2		NA																	6	Substitution - coding silent(6)		lung(6)		0						c.(430-432)GCC>GCT		breast carcinoma amplified sequence 4 isoform a							49.0	41.0	43.0					20																	49458380		2203	4300	6503	SO:0001819	synonymous_variant	55653					cytoplasm		g.chr20:49458380C>T	AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.432C>T	20.37:g.49458380C>T						BCAS4_uc002xvr.2_Silent_p.A144A|BCAS4_uc002xvs.2_Intron	p.A144A	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN			4	496	+			144					Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Silent	SNP	ENST00000358791.5	37	c.432C>T	CCDS33487.1																																																																																				0.652	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843		20	41	0	0	0	0.010504	0	20	41				
TSHZ2	128553	broad.mit.edu	37	20	51872150	51872150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:51872150G>C	ENST00000371497.5	+	2	3040	c.2153G>C	c.(2152-2154)tGc>tCc	p.C718S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.C715S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.C715S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	718					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C718S(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCACCTTCCTGCTCCAGCCCA	0.582																																							uc002xwo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2152-2154)TGC>TCC		teashirt zinc finger homeobox 2							71.0	67.0	68.0					20																	51872150		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872150G>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2153G>C	20.37:g.51872150G>C	ENSP00000360552:p.Cys718Ser						p.C718S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3109	+			718					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2153G>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	6.647	0.487951	0.12641	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.12774	2.65;2.65	5.72	4.74	0.60224	.	0.523762	0.20687	N	0.087533	T	0.07548	0.0190	L	0.31294	0.92	0.31387	N	0.678323	B	0.02656	0.0	B	0.01281	0.0	T	0.31223	-0.9951	10	0.02654	T	1	-0.4141	5.6571	0.17648	0.1182:0.0:0.691:0.1908	.	718	Q9NRE2	TSH2_HUMAN	S	718;715;244	ENSP00000360552:C718S;ENSP00000333114:C715S	ENSP00000333114:C715S	C	+	2	0	TSHZ2	51305557	0.252000	0.23972	0.884000	0.34674	0.997000	0.91878	1.549000	0.36212	1.350000	0.45770	0.643000	0.83706	TGC		0.582	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		24	53	0	0	0	0.00333	0	24	53				
CYP24A1	1591	broad.mit.edu	37	20	52774070	52774070	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:52774070C>T	ENST00000216862.3	-	10	1684	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395954.3_Missense_Mutation_p.D289N	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	431					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.D431N(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGACTTGAATCTTCAAAATTG	0.393																																							uc002xwv.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(1291-1293)GAT>AAT		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						91.0	87.0	88.0					20																	52774070		2203	4300	6503	SO:0001583	missense	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52774070C>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1291G>A	20.37:g.52774070C>T	ENSP00000216862:p.Asp431Asn					CYP24A1_uc002xwu.1_Missense_Mutation_p.D289N|CYP24A1_uc002xww.2_Intron	p.D431N	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		10	1689	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		431					Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	c.1291G>A	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	c	12.01	1.811009	0.32053	.	.	ENSG00000019186	ENST00000216862;ENST00000395954	T;D	0.81499	-0.3;-1.5	5.34	4.4	0.53042	.	0.233525	0.49916	N	0.000122	T	0.64193	0.2576	N	0.17594	0.5	0.35932	D	0.832581	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.003	T	0.62501	-0.6841	10	0.21014	T	0.42	-4.7689	9.78	0.40643	0.0:0.8433:0.0:0.1567	.	431;289	Q07973;Q5I2W7	CP24A_HUMAN;.	N	431;289	ENSP00000216862:D431N;ENSP00000379284:D289N	ENSP00000216862:D431N	D	-	1	0	CYP24A1	52207477	0.997000	0.39634	0.980000	0.43619	0.922000	0.55478	2.279000	0.43435	1.396000	0.46663	0.552000	0.68991	GAT		0.393	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			15	89	0	0	0	0.003163	0	15	89				
PCK1	5105	broad.mit.edu	37	20	56138681	56138681	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:56138681G>T	ENST00000319441.4	+	6	1023	c.859G>T	c.(859-861)Gcc>Tcc	p.A287S	PCK1_ENST00000535860.1_Missense_Mutation_p.A155S|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	287					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.A287S(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTTCCCAGCGCCTGCGGGAA	0.542																																							uc002xyn.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(859-861)GCC>TCC		cytosolic phosphoenolpyruvate carboxykinase 1							78.0	77.0	77.0					20																	56138681		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138681G>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.859G>T	20.37:g.56138681G>T	ENSP00000319814:p.Ala287Ser					PCK1_uc010zzm.1_Intron	p.A287S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		6	1022	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		287			GTP.		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.859G>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054293	0.93793	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.15256	2.44;2.44	5.27	5.27	0.74061	Phosphoenolpyruvate carboxykinase, C-terminal (1);Phosphoenolpyruvate carboxykinase, GTP-utilising, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	H	0.94385	3.53	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.70070	-0.4973	10	0.87932	D	0	-35.6754	18.8895	0.92392	0.0:0.0:1.0:0.0	.	287	P35558	PCKGC_HUMAN	S	287;155	ENSP00000319814:A287S;ENSP00000444342:A155S	ENSP00000319814:A287S	A	+	1	0	PCK1	55572087	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.338000	0.96553	2.478000	0.83669	0.561000	0.74099	GCC		0.542	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			45	100	1	0	5.20006e-24	0.011902	7.12983e-24	45	100				
PCK1	5105	broad.mit.edu	37	20	56140121	56140121	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:56140121C>G	ENST00000319441.4	+	9	1508	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Silent_p.L131L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	448					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.L448L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGAAGCTCTCAGCTGGCAAC	0.463																																							uc002xyn.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1342-1344)CTC>CTG		cytosolic phosphoenolpyruvate carboxykinase 1							85.0	98.0	93.0					20																	56140121		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56140121C>G		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1344C>G	20.37:g.56140121C>G						PCK1_uc010zzm.1_Silent_p.L131L	p.L448L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		9	1507	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		448					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.1344C>G	CCDS13460.1																																																																																				0.463	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			18	136	0	0	0	0.006122	0	18	136				
NELFCD	51497	broad.mit.edu	37	20	57569177	57569177	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:57569177A>G	ENST00000344018.3	+	14	1648	c.1621A>G	c.(1621-1623)Att>Gtt	p.I541V	NELFCD_ENST00000602795.1_Missense_Mutation_p.I550V|NELFCD_ENST00000479207.1_3'UTR			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	541					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.I541V(1)									GCTGGACGTCATTGCTCCTCC	0.557																																							uc002yag.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1621-1623)ATT>GTT		TH1-like protein							143.0	130.0	134.0					20																	57569177		2203	4300	6503	SO:0001583	missense	51497				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	g.chr20:57569177A>G	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1621A>G	20.37:g.57569177A>G	ENSP00000342300:p.Ile541Val					TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.H511R	p.I541V	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Colorectal(105;0.109)		14	1648	+	all_lung(29;0.00711)		541					B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.1621A>G		.	.	.	.	.	.	.	.	.	.	A	14.10	2.433357	0.43224	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.59	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.61664	0.2365	L	0.41027	1.25	0.58432	D	0.999998	D	0.58620	0.983	D	0.71184	0.972	T	0.55082	-0.8196	9	0.15066	T	0.55	-26.0806	10.1109	0.42561	0.9206:0.0:0.0794:0.0	.	541	Q8IXH7	NELFD_HUMAN	V	541	.	ENSP00000342300:I541V	I	+	1	0	TH1L	57002572	1.000000	0.71417	0.173000	0.22940	0.740000	0.42216	6.960000	0.76036	0.783000	0.33636	0.460000	0.39030	ATT		0.557	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		16	76	0	0	0	0.004007	0	16	76				
ZNF831	128611	broad.mit.edu	37	20	57768421	57768421	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:57768421C>G	ENST00000371030.2	+	1	2347	c.2347C>G	c.(2347-2349)Ccc>Gcc	p.P783A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	783							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P783A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTGGCCGGACCCCAAGCTGGA	0.657																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(2347-2349)CCC>GCC		zinc finger protein 831							29.0	37.0	34.0					20																	57768421		1888	4098	5986	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768421C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2347C>G	20.37:g.57768421C>G	ENSP00000360069:p.Pro783Ala						p.P783A	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2347	+	all_lung(29;0.0085)		783					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2347C>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.553949	0.00918	.	.	ENSG00000124203	ENST00000371030	T	0.04317	3.65	3.97	-3.98	0.04082	.	1.446830	0.04338	N	0.353539	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46789	-0.9166	10	0.59425	D	0.04	-8.0E-4	6.8294	0.23900	0.0:0.3198:0.1281:0.552	.	783	Q5JPB2	ZN831_HUMAN	A	783	ENSP00000360069:P783A	ENSP00000360069:P783A	P	+	1	0	ZNF831	57201816	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.090000	0.11163	-0.631000	0.05560	-0.271000	0.10264	CCC		0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		16	33	0	0	0	0.006122	0	16	33				
ZNF831	128611	broad.mit.edu	37	20	57769224	57769224	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:57769224G>T	ENST00000371030.2	+	1	3150	c.3150G>T	c.(3148-3150)gaG>gaT	p.E1050D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1050							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E1050D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCCCAGGGAGGCTACCTCCT	0.632																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(3148-3150)GAG>GAT		zinc finger protein 831							21.0	26.0	25.0					20																	57769224		2064	4216	6280	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769224G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3150G>T	20.37:g.57769224G>T	ENSP00000360069:p.Glu1050Asp						p.E1050D	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3150	+	all_lung(29;0.0085)		1050					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3150G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.850011	0.32699	.	.	ENSG00000124203	ENST00000371030	T	0.05649	3.41	4.75	-1.02	0.10135	.	0.734428	0.12503	N	0.463163	T	0.05227	0.0139	L	0.48642	1.525	0.09310	N	1	B	0.15930	0.015	B	0.15052	0.012	T	0.43589	-0.9382	10	0.20046	T	0.44	-7.3434	5.3138	0.15845	0.2612:0.3263:0.4125:0.0	.	1050	Q5JPB2	ZN831_HUMAN	D	1050	ENSP00000360069:E1050D	ENSP00000360069:E1050D	E	+	3	2	ZNF831	57202619	0.001000	0.12720	0.000000	0.03702	0.272000	0.26649	-0.090000	0.11163	-0.081000	0.12662	0.609000	0.83330	GAG		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		18	31	1	0	1.99824e-07	0.00499	2.3286e-07	18	31				
LAMA5	3911	broad.mit.edu	37	20	60890259	60890259	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:60890259C>A	ENST00000252999.3	-	59	7938	c.7872G>T	c.(7870-7872)gaG>gaT	p.E2624D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2624	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.E2624D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCTTGCTTGTCTCGTCTGTGG	0.622																																							uc002ycq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(7870-7872)GAG>GAT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						33.0	34.0	34.0					20																	60890259		2198	4287	6485	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60890259C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7872G>T	20.37:g.60890259C>A	ENSP00000252999:p.Glu2624Asp						p.E2624D	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		59	7939	-	Breast(26;1.57e-08)		2624			Potential.|Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.7872G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	0.802	-0.754930	0.03041	.	.	ENSG00000130702	ENST00000252999	T	0.16597	2.33	4.02	1.8	0.24995	.	0.184221	0.46442	U	0.000282	T	0.04907	0.0132	N	0.02685	-0.53	0.26835	N	0.968504	B	0.02656	0.0	B	0.04013	0.001	T	0.42899	-0.9424	10	0.02654	T	1	.	7.3991	0.26954	0.0:0.5797:0.3014:0.1189	.	2624	O15230	LAMA5_HUMAN	D	2624	ENSP00000252999:E2624D	ENSP00000252999:E2624D	E	-	3	2	LAMA5	60323654	0.010000	0.17322	0.594000	0.28785	0.523000	0.34469	-0.048000	0.11944	0.684000	0.31448	0.457000	0.33378	GAG		0.622	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		12	33	1	0	4.36969e-10	0.001855	5.34523e-10	12	33				
NTSR1	4923	broad.mit.edu	37	20	61386117	61386117	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:61386117C>T	ENST00000370501.3	+	2	1166	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	265					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.V265V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGCTGACCGTCATGGTACGCC	0.617																																					GBM(37;400 780 6403 19663 35669)	GBM(37;400 780 6403 19663 35669)	uc002ydf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(793-795)GTC>GTT		neurotensin receptor 1							140.0	113.0	122.0					20																	61386117		2203	4300	6503	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386117C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.795C>T	20.37:g.61386117C>T							p.V265V	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1166	+	Breast(26;3.65e-08)		265			Cytoplasmic (Potential).		Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.795C>T	CCDS13502.1																																																																																				0.617	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			10	103	0	0	0	0.006214	0	10	103				
COL9A3	1299	broad.mit.edu	37	20	61461738	61461738	+	Silent	SNP	C	C	T	rs557569181	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:61461738C>T	ENST00000343916.3	+	23	1191	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	396	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P396P(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AAGGCCCTCCCGGAGCCCCTG	0.692													C|||	3	0.000599042	0.0023	0.0	5008	,	,		10106	0.0		0.0	False		,,,				2504	0.0						uc002ydm.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1186-1188)CCC>CCT		alpha 3 type IX collagen precursor							17.0	22.0	20.0					20																	61461738		2166	4247	6413	SO:0001819	synonymous_variant	1299				axon guidance	collagen type IX		g.chr20:61461738C>T	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1188C>T	20.37:g.61461738C>T							p.P396P	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			23	1191	+	Breast(26;5.68e-08)		396			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	c.1188C>T	CCDS13505.1																																																																																				0.692	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		3	5	0	0	0	0.009096	0	3	5				
CHRNA4	1137	broad.mit.edu	37	20	61981575	61981575	+	Missense_Mutation	SNP	G	G	C	rs201164674		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:61981575G>C	ENST00000370263.4	-	5	1409	c.1188C>G	c.(1186-1188)agC>agG	p.S396R	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	396					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCTGGGTGCCGCTCGTGGCAG	0.672																																							uc002yes.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1186-1188)AGC>AGG		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						13.0	14.0	13.0					20																	61981575		2194	4287	6481	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981575G>C		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1188C>G	20.37:g.61981575G>C	ENSP00000359285:p.Ser396Arg					CHRNA4_uc002yet.1_Missense_Mutation_p.S220R|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.S325R|CHRNA4_uc002yev.1_Missense_Mutation_p.S220R|CHRNA4_uc010gkf.1_Missense_Mutation_p.S220R	p.S396R	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	1366	-	all_cancers(38;1.71e-10)		396			Cytoplasmic (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1188C>G	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	0.941	-0.709405	0.03230	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.70045	-0.45	2.91	0.796	0.18648	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.078870	0.01591	U	0.021543	T	0.64605	0.2613	L	0.34521	1.04	0.24366	N	0.99486	P;B	0.49696	0.927;0.047	P;B	0.51453	0.67;0.037	T	0.50363	-0.8837	10	0.25106	T	0.35	.	6.463	0.21966	0.4651:0.0:0.5349:0.0	.	325;396	Q4VAQ5;P43681	.;ACHA4_HUMAN	R	302;396;325	ENSP00000359285:S396R	ENSP00000359280:S302R	S	-	3	2	CHRNA4	61452019	0.001000	0.12720	0.005000	0.12908	0.075000	0.17131	0.975000	0.29449	-0.063000	0.13065	-0.136000	0.14681	AGC		0.672	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			5	20	0	0	0	0.00308	0	5	20				
TCEA2	6919	broad.mit.edu	37	20	62701953	62701953	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:62701953G>T	ENST00000343484.5	+	8	953	c.784G>T	c.(784-786)Ggc>Tgc	p.G262C	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.G235C|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	262					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G262C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTTCACCTGCGGCAAGTGCAG	0.632																																							uc011abs.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(784-786)GGC>TGC		transcription elongation factor A protein 2							40.0	41.0	41.0					20																	62701953		2199	4298	6497	SO:0001583	missense	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701953G>T	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.784G>T	20.37:g.62701953G>T	ENSP00000343515:p.Gly262Cys					TCEA2_uc011abr.1_Missense_Mutation_p.G235C|TCEA2_uc010gks.2_Missense_Mutation_p.G263C	p.G262C	NM_003195	NP_003186	Q15560	TCEA2_HUMAN			8	1440	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		262			TFIIS-type.		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	c.784G>T	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858601	0.32791	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	.	.	.	4.44	0.143	0.14820	Zinc finger, TFIIS-type (4);	0.565607	0.20266	N	0.095767	T	0.80571	0.4648	M	0.93150	3.385	0.42286	D	0.992114	D;D;D	0.76494	0.99;0.99;0.999	D;D;D	0.77557	0.99;0.99;0.984	T	0.79676	-0.1704	9	0.87932	D	0	-16.8979	8.746	0.34587	0.3206:0.0:0.6794:0.0	.	262;262;235	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	C	235;262;235;235;235	.	ENSP00000339432:G235C	G	+	1	0	TCEA2	62172397	0.723000	0.28027	0.001000	0.08648	0.021000	0.10359	1.027000	0.30115	-0.131000	0.11578	-0.391000	0.06502	GGC		0.632	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		11	18	1	0	9.70103e-10	0.008291	1.18468e-09	11	18				
LIPI	149998	broad.mit.edu	37	21	15558333	15558333	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:15558333T>C	ENST00000536861.1	-	3	489	c.490A>G	c.(490-492)Atc>Gtc	p.I164V	LIPI_ENST00000344577.2_Missense_Mutation_p.I185V			Q6XZB0	LIPI_HUMAN	lipase, member I	164					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.I185V(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AATCCACTGATATGAGCCCCT	0.313																																							uc002yjm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(553-555)ATC>GTC		lipase, member I							111.0	110.0	110.0					21																	15558333		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15558333T>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.490A>G	21.37:g.15558333T>C	ENSP00000440381:p.Ile164Val					LIPI_uc010gkw.1_Missense_Mutation_p.I118V	p.I185V	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	3	563	-			164					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.553A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.23|13.23	2.175239|2.175239	0.38413|0.38413	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.87029|.	-2.2;-2.2|.	5.22|5.22	4.07|4.07	0.47477|0.47477	.|.	0.050343|.	0.85682|.	D|.	0.000000|.	T|T	0.25568|0.25568	0.0622|0.0622	N|N	0.17901|0.17901	0.54|0.54	0.24701|0.24701	N|N	0.993254|0.993254	P;P|.	0.39480|.	0.675;0.675|.	B;B|.	0.44085|.	0.44;0.254|.	T|T	0.18967|0.18967	-1.0320|-1.0320	10|5	0.02654|.	T|.	1|.	.|.	9.104|9.104	0.36687|0.36687	0.0:0.1522:0.0:0.8478|0.0:0.1522:0.0:0.8478	.|.	164;185|.	G1JSG6;Q6XZB0-2|.	.;.|.	V|C	185;164;59|43	ENSP00000343331:I185V;ENSP00000440381:I164V|.	ENSP00000343331:I185V|.	I|Y	-|-	1|2	0|0	LIPI|LIPI	14480204|14480204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.567000|0.567000	0.23608|0.23608	0.934000|0.934000	0.37316|0.37316	0.528000|0.528000	0.53228|0.53228	ATC|TAT		0.313	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		92	56	0	0	0	0.01441	0	92	56				
JAM2	58494	broad.mit.edu	37	21	27086965	27086965	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:27086965C>A	ENST00000480456.1	+	10	1428	c.878C>A	c.(877-879)aCa>aAa	p.T293K	JAM2_ENST00000312957.5_Missense_Mutation_p.T293K|JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000425221.2_Missense_Mutation_p.T257K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	293					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.T293K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAAGCACACAAAATCCTTT	0.274																																							uc002ylp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(877-879)ACA>AAA		junctional adhesion molecule 2 precursor							53.0	53.0	53.0					21																	27086965		1783	4054	5837	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27086965C>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.878C>A	21.37:g.27086965C>A	ENSP00000420419:p.Thr293Lys					JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.T257K|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.T289K|JAM2_uc010gli.1_Missense_Mutation_p.Q275K	p.T293K	NM_021219	NP_067042	P57087	JAM2_HUMAN			10	1423	+			293	DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).		Cytoplasmic (Potential).		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.878C>A	CCDS42911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.58|10.58	1.390365|1.390365	0.25118|0.25118	.|.	.|.	ENSG00000154721|ENSG00000154721	ENST00000400533|ENST00000480456;ENST00000400537;ENST00000312957;ENST00000425221	.|D;D;D	.|0.82526	.|-1.62;-1.62;-1.62	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|.	.|.	.|.	.|.	T|T	0.80727|0.80727	0.4678|0.4678	L|L	0.28458|0.28458	0.855|0.855	0.58432|0.58432	D|D	0.999996|0.999996	B|D;D;D	0.20261|0.65815	0.043|0.986;0.995;0.986	B|P;P;P	0.16289|0.55112	0.015|0.722;0.769;0.722	T|T	0.75266|0.75266	-0.3378|-0.3378	7|9	.|0.10902	.|T	.|0.67	.|.	15.1243|15.1243	0.72469|0.72469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275|257;289;293	A8MXS1|B4DGT9;A8MTB0;P57087	.|.;.;JAM2_HUMAN	K|K	275|293;289;293;257	.|ENSP00000420419:T293K;ENSP00000318416:T293K;ENSP00000392611:T257K	.|ENSP00000318416:T293K	Q|T	+|+	1|2	0|0	JAM2|JAM2	26008836|26008836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.114000|4.114000	0.57858|0.57858	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	CAA|ACA		0.274	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			10	19	1	0	0.000442599	0.006214	0.000469777	10	19				
ADAMTS1	9510	broad.mit.edu	37	21	28216601	28216601	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:28216601C>G	ENST00000284984.3	-	1	1127	c.673G>C	c.(673-675)Gaa>Caa	p.E225Q		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	225					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGAGCCCCTTCGTCCTCGCCC	0.652											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002ymf.2		NA																	0				lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(673-675)GAA>CAA		ADAM metallopeptidase with thrombospondin type 1							30.0	26.0	27.0					21																	28216601		2197	4296	6493	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28216601C>G	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.673G>C	21.37:g.28216601C>G	ENSP00000284984:p.Glu225Gln		OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	800		p.E225Q	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	1	1128	-		Breast(209;0.000962)	225					D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.673G>C	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	7.840	0.721609	0.15372	.	.	ENSG00000154734	ENST00000284984	T	0.61859	0.07	3.96	-3.68	0.04463	.	.	.	.	.	T	0.27241	0.0668	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20940	-1.0260	9	0.12766	T	0.61	.	4.9282	0.13903	0.0:0.2011:0.3088:0.4901	.	225	Q9UHI8	ATS1_HUMAN	Q	225	ENSP00000284984:E225Q	ENSP00000284984:E225Q	E	-	1	0	ADAMTS1	27138472	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.453000	0.02383	-0.687000	0.05162	0.462000	0.41574	GAA		0.652	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			3	13	0	0	0	0.004672	0	3	13				
LTN1	26046	broad.mit.edu	37	21	30304987	30304987	+	Splice_Site	SNP	C	C	A	rs199933235		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:30304987C>A	ENST00000361371.5	-	28	4955		c.e28-1		LTN1_ENST00000389194.2_Splice_Site			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GAGCTTTAACCTGCAATACAA	0.343																																							uc002ymr.2		NA																	1	Unknown(1)		lung(1)		0						c.e28-1		zinc finger protein 294							83.0	88.0	86.0					21																	30304987		2203	4300	6503	SO:0001630	splice_region_variant	26046						ligase activity|zinc ion binding	g.chr21:30304987C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4876-1G>T	21.37:g.30304987C>A							p.V1672_splice	NM_015565	NP_056380	O94822	LTN1_HUMAN			28	5027	-								A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37	c.5014_splice		.	.	.	.	.	.	.	.	.	.	C	18.63	3.665899	0.67700	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTN1	29226858	1.000000	0.71417	0.999000	0.59377	0.562000	0.35680	7.443000	0.80521	2.757000	0.94681	0.563000	0.77884	.		0.343	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	Intron	10	61	1	0	2.17888e-05	0.006214	2.40588e-05	10	61				
CLDN17	26285	broad.mit.edu	37	21	31538717	31538717	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31538717G>A	ENST00000286808.3	-	1	254	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	73					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L73L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGCAGGCGGGAGAGCCAACA	0.552																																							uc011acv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(217-219)CTC>CTT		claudin 17							73.0	81.0	79.0					21																	31538717		2203	4300	6503	SO:0001819	synonymous_variant	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538717G>A	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.219C>T	21.37:g.31538717G>A							p.L73L	NM_012131	NP_036263	P56750	CLD17_HUMAN			1	219	-			73			Extracellular (Potential).		Q3MJB5|Q6UY37	Silent	SNP	ENST00000286808.3	37	c.219C>T	CCDS13586.1																																																																																				0.552	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		14	59	0	0	0	0.00245	0	14	59				
KRTAP13-2	337959	broad.mit.edu	37	21	31744334	31744334	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31744334G>C	ENST00000399889.2	-	1	223	c.198C>G	c.(196-198)tgC>tgG	p.C66W		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	66	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.C66W(2)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGGACGTCTGGCAGCTGGTGG	0.602																																							uc002ynz.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(196-198)TGC>TGG		keratin associated protein 13-2							55.0	55.0	55.0					21																	31744334		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744334G>C	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.198C>G	21.37:g.31744334G>C	ENSP00000382777:p.Cys66Trp						p.C66W	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	224	-			66			3.|5 X 10 AA approximate repeats.			Missense_Mutation	SNP	ENST00000399889.2	37	c.198C>G	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977369	0.34848	.	.	ENSG00000182816	ENST00000399889	T	0.08370	3.1	4.26	0.168	0.15012	.	0.144113	0.31648	N	0.007287	T	0.25044	0.0608	M	0.90977	3.165	0.21147	N	0.999775	D	0.56746	0.977	P	0.59546	0.859	T	0.04870	-1.0921	10	0.72032	D	0.01	.	6.004	0.19537	0.5292:0.0:0.4708:0.0	.	66	Q52LG2	KR132_HUMAN	W	66	ENSP00000382777:C66W	ENSP00000382777:C66W	C	-	3	2	KRTAP13-2	30666205	0.032000	0.19561	0.077000	0.20336	0.769000	0.43574	0.725000	0.25970	0.112000	0.17975	0.655000	0.94253	TGC		0.602	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			13	42	0	0	0	0.001855	0	13	42				
KRTAP15-1	254950	broad.mit.edu	37	21	31813004	31813004	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:31813004G>A	ENST00000334067.3	+	1	408	c.359G>A	c.(358-360)aGc>aAc	p.S120N		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	120						intermediate filament (GO:0005882)		p.S120N(2)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTGGGTCCAGCTTCTACCAC	0.473																																							uc002yod.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(358-360)AGC>AAC		keratin associated protein 15-1							130.0	132.0	131.0					21																	31813004		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31813004G>A	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.359G>A	21.37:g.31813004G>A	ENSP00000334866:p.Ser120Asn						p.S120N	NM_181623	NP_853654	Q3LI76	KR151_HUMAN			1	359	+			120					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.359G>A	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	G	8.068	0.769550	0.15983	.	.	ENSG00000186970	ENST00000334067	T	0.15718	2.4	4.72	-6.19	0.02078	.	0.664294	0.14242	N	0.332006	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.34551	-0.9824	10	0.18710	T	0.47	-2.7295	7.5827	0.27974	0.573:0.2295:0.1975:0.0	.	120	Q3LI76	KR151_HUMAN	N	120	ENSP00000334866:S120N	ENSP00000334866:S120N	S	+	2	0	KRTAP15-1	30734875	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.579000	0.05834	-1.438000	0.01965	-0.913000	0.02753	AGC		0.473	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			18	62	0	0	0	0.006122	0	18	62				
PAXBP1	94104	broad.mit.edu	37	21	34117954	34117954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:34117954C>A	ENST00000331923.4	-	12	2188	c.1999G>T	c.(1999-2001)Gaa>Taa	p.E667*	PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.E667*|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	667					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)	p.E667*(1)									TCATCTTTTTCTTGCTCTCGT	0.378																																							uc002yqn.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1999-2001)GAA>TAA		GC-rich sequence DNA-binding factor candidate							223.0	196.0	205.0					21																	34117954		2203	4300	6503	SO:0001587	stop_gained	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34117954C>A	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.1999G>T	21.37:g.34117954C>A	ENSP00000328992:p.Glu667*					GCFC1_uc002yql.2_Nonsense_Mutation_p.E176*|GCFC1_uc002yqm.2_Nonsense_Mutation_p.E161*|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Nonsense_Mutation_p.E667*	p.E667*	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			12	2189	-			667					D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	ENST00000331923.4	37	c.1999G>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	37	6.389976	0.97529	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	.	.	.	5.52	4.62	0.57501	.	0.136655	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-28.7569	16.2139	0.82191	0.0:0.8666:0.1334:0.0	.	.	.	.	X	667	.	ENSP00000290178:E667X	E	-	1	0	GCFC1	33039825	1.000000	0.71417	0.432000	0.26747	0.985000	0.73830	3.670000	0.54569	1.427000	0.47276	0.561000	0.74099	GAA		0.378	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		8	35	1	0	0.00307968	0.00308	0.00319864	8	35				
RUNX1	861	broad.mit.edu	37	21	36231792	36231792	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:36231792C>T	ENST00000344691.4	-	3	2088	c.511G>A	c.(511-513)Gat>Aat	p.D171N	RUNX1_ENST00000437180.1_Missense_Mutation_p.D198N|RUNX1_ENST00000325074.5_Missense_Mutation_p.D186N|RUNX1_ENST00000486278.2_Missense_Mutation_p.D174N|RUNX1_ENST00000358356.5_Missense_Mutation_p.D171N|RUNX1_ENST00000399240.1_Missense_Mutation_p.D171N|RUNX1_ENST00000300305.3_Missense_Mutation_p.D198N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	171	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D198N(12)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGGGCCCATCCACTGTGATT	0.557			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																		uc002yuh.2		NA		Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		12	Substitution - Missense(12)	p.D198N(9)|p.G170_K171insRRG(1)|p.K171N(1)	haematopoietic_and_lymphoid_tissue(10)|lung(2)	haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387	GRCh37	CM013280	RUNX1	M		c.(511-513)GAT>AAT		runt-related transcription factor 1 isoform							295.0	258.0	270.0					21																	36231792		2203	4300	6503	SO:0001583	missense	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36231792C>T	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.511G>A	21.37:g.36231792C>T	ENSP00000340690:p.Asp171Asn					RUNX1_uc002yui.2_Missense_Mutation_p.D171N|RUNX1_uc010gmu.2_Missense_Mutation_p.D198N|RUNX1_uc010gmv.2_Missense_Mutation_p.D198N|RUNX1_uc002yuj.3_Missense_Mutation_p.D66N|RUNX1_uc002yuk.3_Missense_Mutation_p.D198N|RUNX1_uc002yum.1_Missense_Mutation_p.D66N|RUNX1_uc010gmw.1_Missense_Mutation_p.D198N|RUNX1_uc002yuo.1_Missense_Mutation_p.D171N|RUNX1_uc002yur.1_Missense_Mutation_p.D66N|uc002yus.1_RNA	p.D171N	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN			3	2089	-			171	D->A: Strongly reduces DNA-binding.|Missing: No DNA-binding.		Interaction with DNA.|Runt.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.511G>A	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254153	0.95336	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	5.12	5.12	0.69794	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.91300	3.195	0.80722	D	1	D;D;D;P;P;D;D	0.76494	0.985;0.999;0.968;0.826;0.653;0.998;0.996	D;D;D;P;P;D;D	0.85130	0.934;0.997;0.964;0.748;0.48;0.934;0.995	D	0.97190	0.9857	10	0.87932	D	0	-14.8335	16.0721	0.80941	0.0:1.0:0.0:0.0	.	198;171;171;174;198;186;171	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	N	171;198;198;186;171;174;171;186;174	ENSP00000340690:D171N;ENSP00000300305:D198N;ENSP00000409227:D198N;ENSP00000319459:D186N;ENSP00000382184:D171N;ENSP00000351123:D171N;ENSP00000382182:D186N;ENSP00000438019:D174N	ENSP00000300305:D198N	D	-	1	0	RUNX1	35153662	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.486000	0.81215	2.377000	0.81083	0.655000	0.94253	GAT		0.557	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			16	63	0	0	0	0.007413	0	16	63				
KCNJ6	3763	broad.mit.edu	37	21	39086866	39086866	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:39086866C>A	ENST00000609713.1	-	3	1183	c.594G>T	c.(592-594)aaG>aaT	p.K198N	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.K198N	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	198					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)	p.K198N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTCTGCCCTCTTCTTGGGTT	0.483																																					Pancreas(48;379 1118 2936 19024 28214)	Pancreas(48;379 1118 2936 19024 28214)	uc011aej.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(592-594)AAG>AAT		potassium inwardly-rectifying channel J6	Halothane(DB01159)						57.0	56.0	56.0					21																	39086866		1930	4158	6088	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086866C>A	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.594G>T	21.37:g.39086866C>A	ENSP00000477437:p.Lys198Asn					KCNJ6_uc002ywo.2_Missense_Mutation_p.K198N	p.K198N	NM_002240	NP_002231	P48051	IRK6_HUMAN			3	647	-			198			Cytoplasmic (By similarity).		Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.594G>T	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310881	0.60414	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.95756	-3.8;-3.8	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	L	0.60067	1.865	0.80722	D	1	B	0.34161	0.439	B	0.39185	0.293	D	0.94041	0.7309	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	198	P48051	IRK6_HUMAN	N	198	ENSP00000383330:K198N;ENSP00000288309:K198N	ENSP00000288309:K198N	K	-	3	2	KCNJ6	38008736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.670000	0.46833	2.941000	0.99782	0.655000	0.94253	AAG		0.483	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		18	50	1	0	5.03518e-11	0.007413	6.27023e-11	18	50				
UMODL1	89766	broad.mit.edu	37	21	43508578	43508578	+	Missense_Mutation	SNP	G	G	C	rs565641987		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:43508578G>C	ENST00000408910.2	+	5	778	c.778G>C	c.(778-780)Gtc>Ctc	p.V260L	UMODL1_ENST00000400427.1_Missense_Mutation_p.V188L|UMODL1_ENST00000400424.2_Missense_Mutation_p.V188L|UMODL1_ENST00000408989.2_Missense_Mutation_p.V260L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	260					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.V188L(2)|p.V260L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGATCAGCGTCCAGGTGCA	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(778-780)GTC>CTC		uromodulin-like 1 isoform 1 precursor							57.0	61.0	60.0					21																	43508578		2139	4244	6383	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43508578G>C		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.778G>C	21.37:g.43508578G>C	ENSP00000386147:p.Val260Leu					UMODL1_uc002zad.1_Missense_Mutation_p.V188L|UMODL1_uc002zae.1_Missense_Mutation_p.V188L|UMODL1_uc002zag.1_Missense_Mutation_p.V260L|UMODL1_uc010gow.1_Missense_Mutation_p.V52L|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.V52L	p.V260L	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			5	778	+			260			Extracellular (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.778G>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810751	0.32053	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.73258	-0.73;-0.71;-0.73;-0.71	4.26	-4.86	0.03132	.	0.835073	0.09847	N	0.748098	T	0.50429	0.1615	N	0.19112	0.55	0.19775	N	0.99995	B;B;B	0.17667	0.023;0.023;0.013	B;B;B	0.22386	0.039;0.026;0.017	T	0.44174	-0.9345	10	0.59425	D	0.04	-11.933	7.7841	0.29083	0.2458:0.1632:0.591:0.0	.	188;260;260	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	L	188;188;260;260;106;106	ENSP00000383279:V188L;ENSP00000383276:V188L;ENSP00000386126:V260L;ENSP00000386147:V260L	ENSP00000369829:V106L	V	+	1	0	UMODL1	42381647	0.000000	0.05858	0.335000	0.25508	0.879000	0.50718	-1.649000	0.01993	-0.645000	0.05458	0.563000	0.77884	GTC		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			3	7	0	0	0	0.004672	0	3	7				
ABCG1	9619	broad.mit.edu	37	21	43621828	43621828	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:43621828C>G	ENST00000398457.2	+	2	303	c.43C>G	c.(43-45)Cct>Gct	p.P15A	ABCG1_ENST00000462050.1_3'UTR	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	0					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.P15A(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	aaagccctgccctcaGGTGTG	0.552																																							uc002zan.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(43-45)CCT>GCT		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						61.0	68.0	66.0					21																	43621828		1994	4168	6162	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43621828C>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000398457.2:c.43C>G	21.37:g.43621828C>G	ENSP00000381475:p.Pro15Ala					ABCG1_uc002zam.2_5'UTR	p.P15A	NM_207627	NP_997510	P45844	ABCG1_HUMAN			2	303	+			Error:Variant_position_missing_in_P45844_after_alignment					Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000398457.2	37	c.43C>G	CCDS42937.1	.	.	.	.	.	.	.	.	.	.	C	0.585	-0.835378	0.02713	.	.	ENSG00000160179	ENST00000398457	D	0.84442	-1.85	1.16	-0.909	0.10514	.	.	.	.	.	T	0.68833	0.3044	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.50524	-0.8818	7	.	.	.	.	2.614	0.04899	0.0:0.4603:0.3125:0.2272	.	15	P45844-3	.	A	15	ENSP00000381475:P15A	.	P	+	1	0	ABCG1	42494897	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.733000	0.04898	-0.360000	0.08138	-0.885000	0.02943	CCT		0.552	ABCG1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195314.1	NM_207174		9	12	0	0	0	0.004482	0	9	12				
KRTAP10-8	386681	broad.mit.edu	37	21	46032130	46032130	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:46032130G>T	ENST00000334662.2	+	1	135	c.113G>T	c.(112-114)gGc>gTc	p.G38V	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	38	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.G38V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACCTGCACTGGCTCCTCCTGG	0.637																																							uc002zfo.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)	2						c.(112-114)GGC>GTC		keratin associated protein 10-8							89.0	79.0	82.0					21																	46032130		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032130G>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.113G>T	21.37:g.46032130G>T	ENSP00000335565:p.Gly38Val					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.G38V	NM_198695	NP_941968	P60410	KR108_HUMAN			1	135	+			38			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.113G>T	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	g	7.674	0.687502	0.14973	.	.	ENSG00000187766	ENST00000334662	T	0.06449	3.3	3.35	0.19	0.15125	.	.	.	.	.	T	0.06735	0.0172	L	0.41824	1.3	0.09310	N	1	P	0.44946	0.846	B	0.43783	0.431	T	0.31223	-0.9951	9	0.49607	T	0.09	.	6.4548	0.21924	0.3619:0.0:0.6381:0.0	.	38	P60410	KR108_HUMAN	V	38	ENSP00000335565:G38V	ENSP00000335565:G38V	G	+	2	0	KRTAP10-8	44856558	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.182000	0.09726	-0.259000	0.09432	0.467000	0.42956	GGC		0.637	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		26	56	1	0	7.92952e-12	0.003954	1.00032e-11	26	56				
KRTAP10-11	386678	broad.mit.edu	37	21	46066935	46066935	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr21:46066935C>A	ENST00000334670.8	+	1	605	c.560C>A	c.(559-561)gCc>gAc	p.A187D	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	187	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A187D(2)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TACCAGCAGGCCTGCTGCGTG	0.602																																							uc002zfr.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(559-561)GCC>GAC		keratin associated protein 10-11							174.0	179.0	177.0					21																	46066935		2203	4300	6503	SO:0001583	missense	386678					keratin filament		g.chr21:46066935C>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.560C>A	21.37:g.46066935C>A	ENSP00000334197:p.Ala187Asp					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A187D	NM_198692	NP_941965	P60412	KR10B_HUMAN			1	605	+			187			25 X 5 AA repeats of C-C-X(3).		A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.560C>A	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	10.31	1.314000	0.23908	.	.	ENSG00000243489	ENST00000334670	T	0.01422	4.91	4.07	-2.98	0.05513	.	.	.	.	.	T	0.01870	0.0059	M	0.75085	2.285	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.43782	-0.9370	9	0.35671	T	0.21	.	2.1891	0.03894	0.1355:0.4896:0.1331:0.2419	.	187	P60412	KR10B_HUMAN	D	187	ENSP00000334197:A187D	ENSP00000334197:A187D	A	+	2	0	KRTAP10-11	44891363	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.254000	0.08781	-0.651000	0.05415	0.456000	0.33151	GCC		0.602	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		63	136	1	0	4.45325e-31	0.01441	6.21743e-31	63	136				
CLTCL1	8218	broad.mit.edu	37	22	19175510	19175510	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:19175510C>G	ENST00000263200.10	-	28	4489	c.4417G>C	c.(4417-4419)Gag>Cag	p.E1473Q	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1473Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1473Q|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1473	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.E1473Q(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCCTCCTCCTCTGTCAGCAGG	0.592			T	?	ALCL																																		uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(4417-4419)GAG>CAG		clathrin, heavy polypeptide-like 1 isoform 1							171.0	175.0	174.0					22																	19175510		2051	4180	6231	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19175510C>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4417G>C	22.37:g.19175510C>G	ENSP00000445677:p.Glu1473Gln					CLTCL1_uc011agv.1_Missense_Mutation_p.E1473Q|CLTCL1_uc011agw.1_Missense_Mutation_p.E1452Q|CLTCL1_uc011agt.1_Missense_Mutation_p.E264Q|CLTCL1_uc011agu.1_Intron	p.E1473Q	NM_007098	NP_009029	P53675	CLH2_HUMAN			29	4492	-	Colorectal(54;0.0993)		1473			Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4417G>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678804	0.47886	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20881	2.04;2.04;2.04	4.13	4.13	0.48395	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	M	0.80508	2.5	0.48087	D	0.999588	B;B	0.09022	0.002;0.001	B;B	0.20767	0.031;0.024	T	0.33929	-0.9849	10	0.72032	D	0.01	-9.4379	16.5601	0.84551	0.0:1.0:0.0:0.0	.	1473;1473	P53675-2;P53675	.;CLH2_HUMAN	Q	1473	ENSP00000439662:E1473Q;ENSP00000445677:E1473Q;ENSP00000441158:E1473Q	ENSP00000445677:E1473Q	E	-	1	0	CLTCL1	17555510	0.992000	0.36948	0.537000	0.28052	0.912000	0.54170	3.260000	0.51523	2.141000	0.66446	0.655000	0.94253	GAG		0.592	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		24	148	0	0	0	0.00333	0	24	148				
USP41	373856	broad.mit.edu	37	22	20721917	20721917	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:20721917C>G	ENST00000454608.2	-	9	643	c.644G>C	c.(643-645)tGc>tCc	p.C215S	USP41_ENST00000486536.2_5'UTR			Q3LFD5	UBP41_HUMAN	ubiquitin specific peptidase 41	215	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CTGGAAGAAGCAGTGCAGGGC	0.488																																							uc011ahp.1		NA																	0					NA						c.(97-99)TGC>TCC		SubName: Full=cDNA FLJ59031, highly similar to Ubl carboxyl-terminal hydrolase 18 (EC 3.1.2.-);																																				SO:0001583	missense	0							g.chr22:20721917C>G	AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133		"""Ubiquitin-specific peptidases"""	20070	protein-coding gene	gene with protein product			"""ubiquitin specific protease 41"""			12838346	Standard	XM_006710116		Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.644G>C	22.37:g.20721917C>G	ENSP00000414922:p.Cys215Ser					uc011ahq.1_Missense_Mutation_p.C141S	p.C33S							4	397	-								A8MXD0|Q70BM7	Missense_Mutation	SNP	ENST00000454608.2	37	c.98G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	2.202|2.202	-0.382759|-0.382759	0.04966|0.04966	.|.	.|.	ENSG00000161133|ENSG00000161133	ENST00000292729|ENST00000454608	.|T	.|0.04809	.|3.55	0.305|0.305	0.305|0.305	0.15801|0.15801	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.348037	.|0.34750	.|N	.|0.003701	T|T	0.03220|0.03220	0.0094|0.0094	N|N	0.21448|0.21448	0.665|0.665	.|.	.|.	.|.	.|B;B	.|0.23058	.|0.075;0.079	.|B;B	.|0.30105	.|0.111;0.056	T|T	0.39563|0.39563	-0.9608|-0.9608	3|8	.|0.12766	.|T	.|0.61	.|.	.|.	.|.	.|.	.|.	.|215;47	.|Q3LFD5;F5H844	.|UBP41_HUMAN;.	P|S	163|215	.|ENSP00000414922:C215S	.|ENSP00000414922:C215S	A|C	-|-	1|2	0|0	USP41|USP41	19051917|19051917	0.971000|0.971000	0.33674|0.33674	0.480000|0.480000	0.27341|0.27341	0.470000|0.470000	0.32858|0.32858	-0.007000|-0.007000	0.12810|0.12810	0.427000|0.427000	0.26145|0.26145	0.430000|0.430000	0.28490|0.28490	GCT|TGC		0.488	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		XM_036729		2	8	0	0	0	0.004672	0	2	8				
PPM1F	9647	broad.mit.edu	37	22	22280013	22280013	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22280013G>A	ENST00000263212.5	-	7	1019	c.914C>T	c.(913-915)gCa>gTa	p.A305V	PPM1F_ENST00000397495.4_Missense_Mutation_p.A305V|PPM1F_ENST00000538191.1_Missense_Mutation_p.A201V|PPM1F_ENST00000407142.1_Missense_Mutation_p.A137V	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	305					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)	p.A305V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCCACCCAATGCTTCAATGCG	0.627																																							uc002zvp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5						c.(913-915)GCA>GTA		protein phosphatase 1F							65.0	53.0	57.0					22																	22280013		2203	4300	6503	SO:0001583	missense	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22280013G>A	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.914C>T	22.37:g.22280013G>A	ENSP00000263212:p.Ala305Val					PPM1F_uc011aik.1_Missense_Mutation_p.A201V|PPM1F_uc002zvq.2_Missense_Mutation_p.A305V	p.A305V	NM_014634	NP_055449	P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	7	1028	-	Colorectal(54;0.105)		305					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.914C>T	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519281	0.64634	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.11	4.07	0.47477	Protein phosphatase 2C-like (5);	0.298007	0.35870	N	0.002937	T	0.45736	0.1357	M	0.92649	3.33	0.35546	D	0.803446	P;P;P	0.47191	0.741;0.891;0.741	P;P;P	0.50708	0.487;0.648;0.589	T	0.67601	-0.5629	10	0.38643	T	0.18	-2.3033	15.5177	0.75837	0.0:0.1387:0.8613:0.0	.	201;305;305	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	V	305;137;137;201;305	ENSP00000263212:A305V;ENSP00000384930:A137V;ENSP00000439915:A201V;ENSP00000380632:A305V	ENSP00000263212:A305V	A	-	2	0	PPM1F	20610013	0.980000	0.34600	0.491000	0.27477	0.553000	0.35397	2.315000	0.43752	1.351000	0.45789	0.655000	0.94253	GCA		0.627	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		5	49	0	0	0	0.000602	0	5	49				
VPREB1	7441	broad.mit.edu	37	22	22599589	22599589	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22599589T>G	ENST00000403807.3	+	2	417	c.278T>G	c.(277-279)gTg>gGg	p.V93G	VPREB1_ENST00000302273.2_Missense_Mutation_p.V92G			P12018	VPREB_HUMAN	pre-B lymphocyte 1	93	Framework-3.|Ig-like V-type.							p.V93G(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCCAAAGATGTGGCCAGGAAC	0.592																																							uc002zvx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(277-279)GTG>GGG		immunoglobulin iota chain precursor							41.0	46.0	44.0					22																	22599589		2203	4300	6503	SO:0001583	missense	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599589T>G	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.278T>G	22.37:g.22599589T>G	ENSP00000385361:p.Val93Gly					LOC96610_uc011aim.1_Intron	p.V93G	NM_007128	NP_009059	P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	304	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	93			Ig-like V-type.|Framework-3.		B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	c.278T>G	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	t	7.955	0.745705	0.15710	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.69435	-0.4;-0.4	3.35	-0.111	0.13576	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.446320	0.04519	N	0.384288	T	0.44393	0.1291	N	0.00894	-1.105	0.09310	N	0.999994	D	0.58268	0.982	P	0.59056	0.851	T	0.49051	-0.8979	10	0.06365	T	0.9	.	3.0605	0.06198	0.1902:0.3339:0.0:0.4759	.	93	P12018	VPREB_HUMAN	G	93;92	ENSP00000385361:V93G;ENSP00000304590:V92G	ENSP00000304590:V92G	V	+	2	0	VPREB1	20929589	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.051000	0.11885	-0.088000	0.12506	-0.924000	0.02725	GTG		0.592	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			36	68	0	0	0	0.003271	0	36	68				
VPREB1	7441	broad.mit.edu	37	22	22599591	22599591	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22599591G>C	ENST00000403807.3	+	2	419	c.280G>C	c.(280-282)Gcc>Ccc	p.A94P	VPREB1_ENST00000302273.2_Missense_Mutation_p.A93P			P12018	VPREB_HUMAN	pre-B lymphocyte 1	94	Framework-3.|Ig-like V-type.							p.A94P(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CAAAGATGTGGCCAGGAACAG	0.592																																							uc002zvx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(280-282)GCC>CCC		immunoglobulin iota chain precursor							40.0	45.0	43.0					22																	22599591		2203	4300	6503	SO:0001583	missense	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599591G>C	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.280G>C	22.37:g.22599591G>C	ENSP00000385361:p.Ala94Pro					LOC96610_uc011aim.1_Intron	p.A94P	NM_007128	NP_009059	P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	306	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	94			Ig-like V-type.|Framework-3.		B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	c.280G>C	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	g	13.07	2.125992	0.37533	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.44881	0.91;0.91	3.91	-3.68	0.04463	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.508313	0.16743	N	0.201356	T	0.54127	0.1839	M	0.71206	2.165	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.49133	-0.8971	10	0.52906	T	0.07	.	9.0912	0.36612	0.0:0.1314:0.204:0.6646	.	94	P12018	VPREB_HUMAN	P	94;93	ENSP00000385361:A94P;ENSP00000304590:A93P	ENSP00000304590:A93P	A	+	1	0	VPREB1	20929591	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.003000	0.12901	-0.226000	0.09899	-1.051000	0.02340	GCC		0.592	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			35	64	0	0	0	0.013726	0	35	64				
ZNF280B	140883	broad.mit.edu	37	22	22842568	22842568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22842568G>A	ENST00000406426.1	-	4	1898	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ZNF280B_ENST00000360412.2_Nonsense_Mutation_p.Q386*			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q386*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	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)		AAGAGGACCTGATCTGTTTCA	0.468																																							uc002zwc.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1156-1158)CAG>TAG		zinc finger protein 280B							107.0	103.0	104.0					22																	22842568		2203	4300	6503	SO:0001587	stop_gained	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842568G>A	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1156C>T	22.37:g.22842568G>A	ENSP00000385998:p.Gln386*					LOC96610_uc011aim.1_Intron	p.Q386*	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1932	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	386			C2H2-type 2.			Nonsense_Mutation	SNP	ENST00000406426.1	37	c.1156C>T	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	G	44	11.070395	0.99511	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-4.0729	15.8711	0.79119	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	ENSP00000353586:Q386X	Q	-	1	0	ZNF280B	21172568	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	6.799000	0.75160	2.689000	0.91719	0.655000	0.94253	CAG		0.468	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		16	88	0	0	0	0.004007	0	16	88				
ZNF280B	140883	broad.mit.edu	37	22	22843099	22843099	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22843099G>C	ENST00000406426.1	-	4	1367	c.625C>G	c.(625-627)Cat>Gat	p.H209D	ZNF280B_ENST00000360412.2_Missense_Mutation_p.H209D			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	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)	p.H209D(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	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)		TTCATTGTATGAAAGGTATCT	0.393																																							uc002zwc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(625-627)CAT>GAT		zinc finger protein 280B							118.0	112.0	114.0					22																	22843099		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843099G>C	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.625C>G	22.37:g.22843099G>C	ENSP00000385998:p.His209Asp					LOC96610_uc011aim.1_Intron	p.H209D	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1401	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	209						Missense_Mutation	SNP	ENST00000406426.1	37	c.625C>G	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	G	3.731	-0.055623	0.07362	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.21191	2.02;2.02	3.26	2.22	0.28083	.	.	.	.	.	T	0.17450	0.0419	L	0.50333	1.59	0.09310	N	1	B	0.33777	0.425	B	0.28385	0.089	T	0.13522	-1.0506	9	0.49607	T	0.09	0.0461	7.7588	0.28940	0.0:0.0:0.7507:0.2493	.	209	Q86YH2	Z280B_HUMAN	D	209	ENSP00000385998:H209D;ENSP00000353586:H209D	ENSP00000353586:H209D	H	-	1	0	ZNF280B	21173099	0.166000	0.22962	0.017000	0.16124	0.465000	0.32709	1.114000	0.31196	0.923000	0.37045	0.655000	0.94253	CAT		0.393	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		20	83	0	0	0	0.010504	0	20	83				
PRAME	23532	broad.mit.edu	37	22	22892257	22892257	+	Missense_Mutation	SNP	C	C	G	rs367787696		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:22892257C>G	ENST00000398741.1	-	5	1150	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	PRAME_ENST00000398743.2_Missense_Mutation_p.E282Q|PRAME_ENST00000543184.1_Missense_Mutation_p.E282Q|PRAME_ENST00000539862.1_Missense_Mutation_p.E266Q|PRAME_ENST00000405655.3_Missense_Mutation_p.E282Q|PRAME_ENST00000424204.2_Missense_Mutation_p.E266Q|PRAME_ENST00000402697.1_Missense_Mutation_p.E282Q|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	282					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.E282Q(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATATACTGCTCTTCCTTCTCC	0.502																																					Melanoma(73;1707 1838 15168 27201)	Melanoma(73;1707 1838 15168 27201)	uc002zwf.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(844-846)GAG>CAG		preferentially expressed antigen in melanoma							105.0	91.0	96.0					22																	22892257		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892257C>G	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.844G>C	22.37:g.22892257C>G	ENSP00000381726:p.Glu282Gln					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.E266Q|PRAME_uc010gtr.2_Missense_Mutation_p.E282Q|PRAME_uc002zwg.2_Missense_Mutation_p.E282Q|PRAME_uc002zwh.2_Missense_Mutation_p.E282Q|PRAME_uc002zwi.2_Missense_Mutation_p.E282Q|PRAME_uc002zwj.2_Missense_Mutation_p.E282Q|PRAME_uc002zwk.2_Missense_Mutation_p.E282Q	p.E282Q	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	1000	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	282					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.844G>C	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641950	0.29157	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	3.78	1.64	0.23874	.	0.297090	0.30269	N	0.010006	T	0.07728	0.0194	L	0.28740	0.885	0.09310	N	1	B	0.32338	0.365	B	0.31495	0.131	T	0.32508	-0.9904	10	0.19147	T	0.46	.	5.4197	0.16394	0.0:0.6825:0.2045:0.113	.	282	P78395	PRAME_HUMAN	Q	282;282;282;282;266;282;266	ENSP00000381728:E282Q;ENSP00000445675:E282Q;ENSP00000381726:E282Q;ENSP00000384343:E282Q;ENSP00000445097:E266Q;ENSP00000385198:E282Q;ENSP00000407342:E266Q	ENSP00000381726:E282Q	E	-	1	0	PRAME	21222257	0.001000	0.12720	0.009000	0.14445	0.011000	0.07611	-0.013000	0.12678	0.553000	0.29044	0.655000	0.94253	GAG		0.502	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		9	50	0	0	0	0.006214	0	9	50				
SUSD2	56241	broad.mit.edu	37	22	24580910	24580910	+	Splice_Site	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:24580910T>G	ENST00000358321.3	+	5	1043		c.e5+2			NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2						immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGGCAGAAGTAAGAAGGCAT	0.607																																							uc002zzn.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e5+2		sushi domain containing 2 precursor							91.0	81.0	84.0					22																	24580910		2202	4300	6502	SO:0001630	splice_region_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580910T>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.782+2T>G	22.37:g.24580910T>G							p.K261_splice	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			5	826	+								Q9H5Y6	Splice_Site	SNP	ENST00000358321.3	37	c.782_splice	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	t	11.94	1.787271	0.31593	.	.	ENSG00000099994	ENST00000358321	.	.	.	4.1	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.46478	D	0.99906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2229	0.25999	0.0:0.1101:0.0:0.8899	.	.	.	.	.	-1	.	.	.	+	.	.	SUSD2	22910910	0.987000	0.35691	0.286000	0.24833	0.121000	0.20230	1.160000	0.31761	1.628000	0.50416	0.359000	0.22050	.		0.607	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601	Intron	11	29	0	0	0	0.013537	0	11	29				
MYO18B	84700	broad.mit.edu	37	22	26242238	26242238	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:26242238C>G	ENST00000407587.2	+	19	3712	c.3543C>G	c.(3541-3543)atC>atG	p.I1181M	MYO18B_ENST00000335473.7_Missense_Mutation_p.I1180M|MYO18B_ENST00000536101.1_Missense_Mutation_p.I1180M			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1180	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I1181M(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTCCCAGATCAAGCTGCAGA	0.617																																							uc003abz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(3538-3540)ATC>ATG		myosin XVIIIB							75.0	90.0	85.0					22																	26242238		2178	4267	6445	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26242238C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3543C>G	22.37:g.26242238C>G	ENSP00000386096:p.Ile1181Met					MYO18B_uc003aca.1_Missense_Mutation_p.I1061M|MYO18B_uc010guy.1_Missense_Mutation_p.I1062M|MYO18B_uc010guz.1_Missense_Mutation_p.I1061M|MYO18B_uc011aka.1_Missense_Mutation_p.I334M|MYO18B_uc011akb.1_Missense_Mutation_p.I693M	p.I1180M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			19	3790	+			1180			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3540C>G		.	.	.	.	.	.	.	.	.	.	C	17.06	3.291905	0.59976	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72282	-0.64;-0.64;-0.64	4.32	4.32	0.51571	Myosin head, motor domain (2);	0.272209	0.35525	N	0.003141	D	0.82490	0.5048	M	0.74258	2.255	0.37920	D	0.93165	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.975;0.989;0.983;0.982	D	0.85397	0.1129	10	0.49607	T	0.09	.	14.3612	0.66773	0.0:1.0:0.0:0.0	.	693;1180;1181;1180	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	M	1180;1180;1181	ENSP00000441229:I1180M;ENSP00000334563:I1180M;ENSP00000386096:I1181M	ENSP00000334563:I1180M	I	+	3	3	MYO18B	24572238	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.593000	0.36686	2.255000	0.74692	0.561000	0.74099	ATC		0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		23	30	0	0	0	0.014323	0	23	30				
GAL3ST1	9514	broad.mit.edu	37	22	30951246	30951246	+	Silent	SNP	G	G	A	rs371763427		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:30951246G>A	ENST00000402321.1	-	3	1283	c.966C>T	c.(964-966)ttC>ttT	p.F322F	GAL3ST1_ENST00000406361.1_Silent_p.F322F|GAL3ST1_ENST00000402369.1_Silent_p.F322F|GAL3ST1_ENST00000338911.5_Silent_p.F322F|GAL3ST1_ENST00000406955.1_Silent_p.F322F|GAL3ST1_ENST00000443111.2_Silent_p.F322F|GAL3ST1_ENST00000401975.1_Silent_p.F322F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	322					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCTCCCGCCCGAAGGCCTCCA	0.711																																							uc003aig.1		NA																	0					0						c.(964-966)TTC>TTT		galactose-3-O-sulfotransferase 1		G		0,4388		0,0,2194	15.0	18.0	17.0		966	-0.2	1.0	22		17	1,8553		0,1,4276	no	coding-synonymous	GAL3ST1	NM_004861.1		0,1,6470	AA,AG,GG		0.0117,0.0,0.0077		322/424	30951246	1,12941	2194	4277	6471	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951246G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.966C>T	22.37:g.30951246G>A						GAL3ST1_uc003aih.1_Silent_p.F322F|GAL3ST1_uc003aii.1_Silent_p.F322F|GAL3ST1_uc010gvz.1_Silent_p.F322F	p.F322F	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	1106	-			322			Lumenal (Potential).		Q96C63	Silent	SNP	ENST00000402321.1	37	c.966C>T	CCDS13879.1																																																																																				0.711	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		4	22	0	0	0	0.000602	0	4	22				
PATZ1	23598	broad.mit.edu	37	22	31722972	31722972	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:31722972C>G	ENST00000266269.5	-	5	2598	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000351933.4_Missense_Mutation_p.E611Q|PATZ1_ENST00000405309.3_3'UTR	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	657					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E657Q(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCAAAGGACTCGAGGAGAGAC	0.582																																							uc003akq.2		NA																EWSR1/PATZ1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)	2						c.(1969-1971)GAG>CAG		POZ (BTB) and AT hook containing zinc finger 1							61.0	63.0	62.0					22																	31722972		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31722972C>G	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1969G>C	22.37:g.31722972C>G	ENSP00000266269:p.Glu657Gln					PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.E611Q	p.E657Q	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			5	2630	-			657					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1969G>C	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009027	0.75046	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.15952	2.38;2.39	5.49	5.49	0.81192	.	0.250386	0.38548	N	0.001646	T	0.29126	0.0724	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.992;0.994	T	0.04855	-1.0922	10	0.46703	T	0.11	-18.2773	18.3477	0.90327	0.0:1.0:0.0:0.0	.	611;657	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	Q	657;611	ENSP00000266269:E657Q;ENSP00000337520:E611Q	ENSP00000266269:E657Q	E	-	1	0	PATZ1	30052972	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	7.237000	0.78164	2.569000	0.86673	0.585000	0.79938	GAG		0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		9	92	0	0	0	0.006214	0	9	92				
EIF4ENIF1	56478	broad.mit.edu	37	22	31850252	31850252	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:31850252C>T	ENST00000397525.1	-	10	1613	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.E143K|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E301K|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.E464K|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E464K|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	464						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.E464K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCAAGGTCTCTTCTAGGTGT	0.483																																							uc003akz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1390-1392)GAG>AAG		eukaryotic translation initiation factor 4E							177.0	142.0	154.0					22																	31850252		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31850252C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1390G>A	22.37:g.31850252C>T	ENSP00000380659:p.Glu464Lys					EIF4ENIF1_uc003akx.1_Missense_Mutation_p.E143K|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.E143K|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.E464K|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.E301K	p.E464K	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			10	1554	-			464					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1390G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816237	0.90790	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.99;0.999;0.998;0.999	P;D;D;D	0.83275	0.814;0.995;0.942;0.996	T	0.67146	-0.5744	9	0.17369	T	0.5	-22.1578	18.0354	0.89301	0.0:1.0:0.0:0.0	.	301;464;301;464	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	K	301;464;464;464;143;62	.	ENSP00000328103:E464K	E	-	1	0	EIF4ENIF1	30180252	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.448000	0.66612	2.941000	0.99782	0.655000	0.94253	GAG		0.483	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		13	70	0	0	0	0.013537	0	13	70				
DEPDC5	9681	broad.mit.edu	37	22	32217561	32217561	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:32217561G>A	ENST00000382112.3	+	22	2014	c.1944G>A	c.(1942-1944)caG>caA	p.Q648Q	DEPDC5_ENST00000400248.2_Silent_p.Q648Q|DEPDC5_ENST00000400249.2_Silent_p.Q648Q|DEPDC5_ENST00000266091.3_Silent_p.Q648Q|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400246.1_Silent_p.Q648Q|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Silent_p.Q648Q	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	648					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.Q648Q(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCAGCGGGCAGAGGGATCCAA	0.552																																							uc003als.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(1942-1944)CAG>CAA		DEP domain containing 5 isoform 1							137.0	146.0	143.0					22																	32217561		2090	4211	6301	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32217561G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1944G>A	22.37:g.32217561G>A						DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Silent_p.Q648Q|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Silent_p.Q648Q|DEPDC5_uc003alu.2_Silent_p.Q88Q|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.1_Intron	p.Q648Q	NM_014662	NP_055477	O75140	DEPD5_HUMAN			23	2086	+			648					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.1944G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	9.602	1.128934	0.21041	.	.	ENSG00000100150	ENST00000433147	.	.	.	6.01	5.0	0.66597	.	.	.	.	.	T	0.70237	0.3201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69705	-0.5073	4	.	.	.	.	14.2232	0.65841	0.0711:0.0:0.9289:0.0	.	.	.	.	K	46	.	.	E	+	1	0	DEPDC5	30547561	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.217000	0.72218	1.556000	0.49512	0.655000	0.94253	GAG		0.552	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		64	121	0	0	0	0.01441	0	64	121				
LARGE	9215	broad.mit.edu	37	22	33673054	33673054	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:33673054C>G	ENST00000354992.2	-	15	2636	c.2065G>C	c.(2065-2067)Gat>Cat	p.D689H	LARGE_ENST00000337431.2_Missense_Mutation_p.D637H|LARGE_ENST00000437602.2_Missense_Mutation_p.D640H|LARGE_ENST00000452586.2_Missense_Mutation_p.D488H|LARGE_ENST00000402320.1_Missense_Mutation_p.D637H|LARGE_ENST00000397394.2_Missense_Mutation_p.D689H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	689					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D689H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACCTGCACATCCAGCTCCATG	0.532																																					Colon(70;397 1175 4573 19089 45288)	Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2065-2067)GAT>CAT		like-glycosyltransferase							108.0	90.0	96.0					22																	33673054		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33673054C>G	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2065G>C	22.37:g.33673054C>G	ENSP00000347088:p.Asp689His					LARGE_uc011amd.1_Missense_Mutation_p.D488H|LARGE_uc003ane.3_Missense_Mutation_p.D689H|LARGE_uc010gwp.2_Missense_Mutation_p.D637H|LARGE_uc011ame.1_Missense_Mutation_p.D621H|LARGE_uc011amf.1_Missense_Mutation_p.D640H	p.D689H	NM_004737	NP_004728	O95461	LARGE_HUMAN			15	2644	-		Lung NSC(1;0.219)	689			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.2065G>C	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322939	0.60634	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	N	0.12502	0.225	0.80722	D	1	B;B;B;B	0.31730	0.337;0.001;0.081;0.11	B;B;B;B	0.42245	0.381;0.011;0.034;0.101	T	0.07083	-1.0791	10	0.09843	T	0.71	-20.224	19.7664	0.96346	0.0:1.0:0.0:0.0	.	640;488;637;689	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	H	689;637;689;637;488;640	ENSP00000347088:D689H;ENSP00000336636:D637H;ENSP00000380549:D689H;ENSP00000385223:D637H;ENSP00000407917:D488H;ENSP00000388544:D640H	ENSP00000336636:D637H	D	-	1	0	LARGE	32003054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.380000	0.79704	2.735000	0.93741	0.655000	0.94253	GAT		0.532	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		11	48	0	0	0	0.008291	0	11	48				
MCM5	4174	broad.mit.edu	37	22	35804479	35804479	+	Missense_Mutation	SNP	G	G	T	rs183229097	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:35804479G>T	ENST00000216122.4	+	6	829	c.675G>T	c.(673-675)caG>caT	p.Q225H	MCM5_ENST00000382011.5_Missense_Mutation_p.Q182H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	225					DNA replication (GO:0006260)|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)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.Q225H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGGACTTCCAGACCCTGAAGC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		21628	0.002		0.0	False		,,,				2504	0.0						uc003anu.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(673-675)CAG>CAT		minichromosome maintenance complex component 5							76.0	63.0	68.0					22																	35804479		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35804479G>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.675G>T	22.37:g.35804479G>T	ENSP00000216122:p.Gln225His					MCM5_uc010gwr.2_Missense_Mutation_p.Q34H|MCM5_uc003anv.3_Missense_Mutation_p.Q182H|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_5'Flank	p.Q225H	NM_006739	NP_006730	P33992	MCM5_HUMAN			6	769	+			225					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.675G>T	CCDS13915.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.6	4.312910	0.81358	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000444778	T;T;T	0.19669	2.13;2.13;2.13	4.59	4.59	0.56863	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.117408	0.64402	D	0.000016	T	0.57989	0.2091	H	0.97390	3.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67900	0.954;0.954;0.954	T	0.71303	-0.4633	10	0.87932	D	0	-30.0354	11.4643	0.50230	0.0825:0.0:0.9175:0.0	.	225;182;225	B1AHB0;B1AHB1;P33992	.;.;MCM5_HUMAN	H	225;182;134;82	ENSP00000216122:Q225H;ENSP00000371441:Q182H;ENSP00000408705:Q82H	ENSP00000216122:Q225H	Q	+	3	2	MCM5	34134479	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.144000	0.71762	2.534000	0.85438	0.655000	0.94253	CAG		0.582	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			20	50	1	0	0.000958276	0.007413	0.00101047	20	50				
CACNG2	10369	broad.mit.edu	37	22	37098576	37098576	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:37098576C>T	ENST00000300105.6	-	1	1027	c.46G>A	c.(46-48)Ggt>Agt	p.G16S	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	16					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G16S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGAAAGCACCAACGGTGGTT	0.473																																							uc003aps.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(46-48)GGT>AGT		voltage-dependent calcium channel gamma-2							169.0	155.0	160.0					22																	37098576		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:37098576C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.46G>A	22.37:g.37098576C>T	ENSP00000300105:p.Gly16Ser					uc003apt.1_5'Flank	p.G16S	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			1	328	-			16			Helical; (Potential).		Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.46G>A	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	19.61	3.859954	0.71834	.	.	ENSG00000166862	ENST00000300105	D	0.88277	-2.36	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.94693	0.8288	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93458	0.6808	10	0.19590	T	0.45	-5.8905	17.8661	0.88795	0.0:1.0:0.0:0.0	.	16	Q9Y698	CCG2_HUMAN	S	16	ENSP00000300105:G16S	ENSP00000300105:G16S	G	-	1	0	CACNG2	35428522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.326000	0.79133	2.192000	0.70111	0.546000	0.68486	GGT		0.473	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			43	87	0	0	0	0.00874	0	43	87				
SSTR3	6753	broad.mit.edu	37	22	37603250	37603250	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:37603250G>T	ENST00000328544.3	-	2	1126	c.593C>A	c.(592-594)cCg>cAg	p.P198Q	SSTR3_ENST00000402501.1_Missense_Mutation_p.P198Q	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	198					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.P198Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GGCCGCCGCCGGCTCGGGCCA	0.692																																							uc003ara.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(592-594)CCG>CAG		somatostatin receptor 3							9.0	12.0	11.0					22																	37603250		2070	4115	6185	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603250G>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.593C>A	22.37:g.37603250G>T	ENSP00000330138:p.Pro198Gln					SSTR3_uc003arb.2_Missense_Mutation_p.P198Q	p.P198Q	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	655	-			198			Extracellular (Potential).		A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.593C>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457724	0.84317	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.36878	1.23;1.23	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.62266	1.93	0.80722	D	1	P	0.52316	0.952	P	0.61940	0.896	T	0.56836	-0.7913	10	0.59425	D	0.04	.	19.7356	0.96200	0.0:0.0:1.0:0.0	.	198	P32745	SSR3_HUMAN	Q	198	ENSP00000330138:P198Q;ENSP00000384904:P198Q	ENSP00000330138:P198Q	P	-	2	0	SSTR3	35933196	1.000000	0.71417	0.983000	0.44433	0.764000	0.43329	9.819000	0.99357	2.677000	0.91161	0.551000	0.68910	CCG		0.692	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			33	24	1	0	2.09667e-21	0.003755	2.83989e-21	33	24				
SH3BP1	23616	broad.mit.edu	37	22	38051611	38051611	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:38051611G>A	ENST00000357436.4	+	18	2339	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	676					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)	p.E676K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGGAGCCCCTGAGGCTATCAG	0.667																																							uc003ati.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2026-2028)GAG>AAG		SH3-domain binding protein 1							7.0	8.0	8.0					22																	38051611		2105	4079	6184	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38051611G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.2026G>A	22.37:g.38051611G>A	ENSP00000350018:p.Glu676Lys					SH3BP1_uc003atg.1_Intron|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|uc003atl.1_Intron	p.E676K	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN			18	2137	+	Melanoma(58;0.0574)		676					Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.2026G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	3.176	-0.168889	0.06461	.	.	ENSG00000100092	ENST00000357436	T	0.14640	2.49	3.98	2.96	0.34315	.	.	.	.	.	T	0.07234	0.0183	N	0.24115	0.695	0.09310	N	1	B	0.30914	0.3	B	0.23275	0.045	T	0.34004	-0.9846	8	.	.	.	.	4.1876	0.10405	0.2113:0.1938:0.5949:0.0	.	676	Q9Y3L3	3BP1_HUMAN	K	676	ENSP00000350018:E676K	.	E	+	1	0	SH3BP1	36381557	0.011000	0.17503	0.362000	0.25862	0.090000	0.18270	1.501000	0.35693	0.883000	0.36040	0.462000	0.41574	GAG		0.667	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		11	6	0	0	0	0.008291	0	11	6				
KCNJ4	3761	broad.mit.edu	37	22	38823619	38823619	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:38823619G>T	ENST00000303592.3	-	2	777	c.519C>A	c.(517-519)gcC>gcA	p.A173A	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	173					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCGCCATCTTGGCCATGATGG	0.637																																							uc003avs.1		NA																	0					0						c.(517-519)GCC>GCA		potassium inwardly-rectifying channel J4							49.0	47.0	48.0					22																	38823619		2203	4300	6503	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823619G>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.519C>A	22.37:g.38823619G>T						KCNJ4_uc003avt.1_Silent_p.A173A	p.A173A	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	616	-	Melanoma(58;0.0286)		173			Cytoplasmic (By similarity).		Q14D44	Silent	SNP	ENST00000303592.3	37	c.519C>A	CCDS13971.1																																																																																				0.637	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		4	93	1	0	0.00024832	0.009096	0.000265313	4	93				
DDX17	10521	broad.mit.edu	37	22	38891885	38891885	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:38891885C>A	ENST00000396821.3	-	6	895	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	DDX17_ENST00000381633.3_Missense_Mutation_p.D187Y|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	266	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.D266Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGCCATAGTCATCGGCCACC	0.438																																					Ovarian(55;1085 1454 6392 21425)	Ovarian(55;1085 1454 6392 21425)	uc003avy.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(796-798)GAC>TAC		DEAD box polypeptide 17 isoform 3							108.0	112.0	111.0					22																	38891885		2203	4300	6503	SO:0001583	missense	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38891885C>A	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.796G>T	22.37:g.38891885C>A	ENSP00000380033:p.Asp266Tyr					DDX17_uc003avx.3_Missense_Mutation_p.D266Y|DDX17_uc011anu.1_Missense_Mutation_p.D179Y	p.D266Y	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			6	899	-	Melanoma(58;0.0286)		187			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	c.796G>T	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719228	0.89205	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.15372	2.43;2.43;2.43	5.41	5.41	0.78517	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.044953	0.85682	D	0.000000	T	0.33469	0.0864	M	0.64260	1.97	0.80722	D	1	P;P;P	0.47034	0.603;0.889;0.865	B;P;B	0.51101	0.392;0.659;0.431	T	0.02821	-1.1106	10	0.87932	D	0	-8.7274	19.558	0.95361	0.0:1.0:0.0:0.0	.	187;268;266	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	Y	266;187;266;268	ENSP00000380033:D266Y;ENSP00000371046:D187Y;ENSP00000385536:D266Y	ENSP00000371046:D187Y	D	-	1	0	DDX17	37221831	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.461000	0.80834	2.706000	0.92434	0.563000	0.77884	GAC		0.438	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		18	106	1	0	5.03518e-11	0.007413	6.27023e-11	18	106				
GTPBP1	9567	broad.mit.edu	37	22	39112972	39112972	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:39112972G>C	ENST00000216044.5	+	4	1034	c.801G>C	c.(799-801)atG>atC	p.M267I		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	267	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.M267I(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TCTTCGGCATGACAGGCCATC	0.552																																							uc003awg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)ATG>ATC		GTP binding protein 1							67.0	60.0	63.0					22																	39112972		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112972G>C	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.801G>C	22.37:g.39112972G>C	ENSP00000216044:p.Met267Ile						p.M267I	NM_004286	NP_004277	O00178	GTPB1_HUMAN			4	955	+	Melanoma(58;0.04)		267					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.801G>C	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448945	0.63178	.	.	ENSG00000100226	ENST00000216044	T	0.39787	1.06	5.1	5.1	0.69264	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	L	0.31371	0.925	0.80722	D	1	P	0.42649	0.786	P	0.48921	0.595	T	0.35574	-0.9783	10	0.44086	T	0.13	.	18.5225	0.90959	0.0:0.0:1.0:0.0	.	267	O00178	GTPB1_HUMAN	I	267	ENSP00000216044:M267I	ENSP00000216044:M267I	M	+	3	0	GTPBP1	37442918	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.530000	0.73816	2.351000	0.79841	0.448000	0.29417	ATG		0.552	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		10	90	0	0	0	0.006214	0	10	90				
MGAT3	4248	broad.mit.edu	37	22	39884738	39884738	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:39884738G>T	ENST00000341184.6	+	2	1601	c.1386G>T	c.(1384-1386)ggG>ggT	p.G462G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	462					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.G462G(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCCGCACCGGGGGCTGGTTCG	0.627																																							uc003axv.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1384-1386)GGG>GGT		mannosyl (beta-1,4-)-glycoprotein							53.0	56.0	55.0					22																	39884738		2202	4300	6502	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884738G>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1386G>T	22.37:g.39884738G>T						MGAT3_uc010gxy.2_Silent_p.G462G	p.G462G	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	1625	+	Melanoma(58;0.04)		462			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1386G>T	CCDS13994.2																																																																																				0.627	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		30	26	1	0	8.58068e-18	0.007291	1.14409e-17	30	26				
ENTHD1	150350	broad.mit.edu	37	22	40140274	40140274	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:40140274C>T	ENST00000325157.6	-	7	1484	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	412								p.E412K(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GATGCTCCCTCAGAAGCAGTT	0.363																																							uc003ayg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1234-1236)GAG>AAG		ENTH domain containing 1							49.0	50.0	49.0					22																	40140274		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40140274C>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.1234G>A	22.37:g.40140274C>T	ENSP00000317431:p.Glu412Lys						p.E412K	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1485	-	Melanoma(58;0.0749)		412					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1234G>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302647	0.23736	.	.	ENSG00000176177	ENST00000325157	T	0.58060	0.36	5.34	2.09	0.27110	.	0.096920	0.41194	N	0.000926	T	0.35711	0.0941	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.17722	0.019	T	0.18085	-1.0348	10	0.19590	T	0.45	-11.6379	8.0242	0.30427	0.0:0.7415:0.0:0.2585	.	412	Q8IYW4	ENTD1_HUMAN	K	412	ENSP00000317431:E412K	ENSP00000317431:E412K	E	-	1	0	ENTHD1	38470220	0.201000	0.23410	0.030000	0.17652	0.484000	0.33280	1.450000	0.35134	0.327000	0.23409	0.650000	0.86243	GAG		0.363	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		3	13	0	0	0	0.004672	0	3	13				
TNFRSF13C	115650	broad.mit.edu	37	22	42321443	42321443	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr22:42321443G>A	ENST00000291232.3	-	3	527	c.483C>T	c.(481-483)gtC>gtT	p.V161V	CTA-250D10.23_ENST00000566575.1_lincRNA|MIR378I_ENST00000582688.1_RNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	161					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				lung(2)|urinary_tract(1)	3						CTGGCACAGGGACACTGTGGC	0.637																																							uc003bbl.2		NA																	0					0						c.(481-483)GTC>GTT		BAFF receptor							39.0	42.0	41.0					22																	42321443		2202	4300	6502	SO:0001819	synonymous_variant	115650					integral to membrane	receptor activity	g.chr22:42321443G>A	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.483C>T	22.37:g.42321443G>A						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.V162V	p.V161V	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN			3	527	-			161			Cytoplasmic (Potential).			Silent	SNP	ENST00000291232.3	37	c.483C>T	CCDS14024.1																																																																																				0.637	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1			10	58	0	0	0	0.010729	0	10	58				
SLC6A11	6538	broad.mit.edu	37	3	10967706	10967706	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:10967706T>C	ENST00000254488.2	+	9	1203	c.1137T>C	c.(1135-1137)ttT>ttC	p.F379F		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	379					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F379F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GCCTGGCCTTTATTGCGTACC	0.557																																							uc003bvz.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1135-1137)TTT>TTC		solute carrier family 6 (neurotransmitter							234.0	243.0	240.0					3																	10967706		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10967706T>C	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1137T>C	3.37:g.10967706T>C							p.F379F	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	9	1171	+			379					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1137T>C	CCDS2602.1																																																																																				0.557	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		87	291	0	0	0	0.01441	0	87	291				
TSEN2	80746	broad.mit.edu	37	3	12558159	12558159	+	Splice_Site	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:12558159A>T	ENST00000284995.6	+	7	1346	c.959A>T	c.(958-960)aAg>aTg	p.K320M	RNU6-377P_ENST00000515965.1_RNA|TSEN2_ENST00000402228.3_Splice_Site_p.K320M|TSEN2_ENST00000383797.5_Intron|TSEN2_ENST00000415684.1_Splice_Site_p.K294M|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000444864.1_Splice_Site_p.K294M|TSEN2_ENST00000454502.2_Splice_Site_p.K261M|TSEN2_ENST00000314571.7_Splice_Site_p.K294M	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	320					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.K320M(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TACTATGAGAAGGTAAGATGC	0.318																																							uc003bxc.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(958-960)AAG>ATG		tRNA-intron nuclease 2 isoform 1							142.0	124.0	130.0					3																	12558159		2203	4299	6502	SO:0001630	splice_region_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12558159A>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.960+1A>T	3.37:g.12558159A>T						TSEN2_uc003bwy.2_Missense_Mutation_p.K320M|TSEN2_uc003bwz.2_Missense_Mutation_p.K261M|TSEN2_uc003bxa.2_Missense_Mutation_p.K294M|TSEN2_uc011auq.1_Missense_Mutation_p.K294M|TSEN2_uc003bxb.2_Missense_Mutation_p.K320M|TSEN2_uc011aur.1_Missense_Mutation_p.K229M	p.K320M	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN			7	1346	+			320					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.959A>T	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174564	0.78452	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.63	5.63	0.86233	tRNA intron endonuclease, N-terminal (1);	0.352778	0.33346	N	0.005019	D	0.86255	0.5889	M	0.70595	2.14	0.80722	D	1	D;P;D;P	0.71674	0.998;0.916;0.998;0.916	D;P;P;P	0.64595	0.927;0.865;0.849;0.813	D	0.87132	0.2197	10	0.54805	T	0.06	-15.7157	15.512	0.75789	1.0:0.0:0.0:0.0	.	294;320;294;261	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	M	320;294;261;320;320;294;293;294	ENSP00000406238:K320M;ENSP00000323188:K294M;ENSP00000392029:K261M;ENSP00000385976:K320M;ENSP00000284995:K320M;ENSP00000407974:K294M;ENSP00000416510:K294M	ENSP00000284995:K320M	K	+	2	0	TSEN2	12533159	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	4.314000	0.59166	2.137000	0.66172	0.460000	0.39030	AAG		0.318	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	Missense_Mutation	5	31	0	0	0	0.001984	0	5	31				
COLQ	8292	broad.mit.edu	37	3	15495391	15495391	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:15495391C>T	ENST00000383788.5	-	16	1368	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	EAF1-AS1_ENST00000608408.1_RNA|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000435459.2_Missense_Mutation_p.E405K|COLQ_ENST00000383786.5_Missense_Mutation_p.E381K|COLQ_ENST00000383781.4_Missense_Mutation_p.E405K|COLQ_ENST00000383787.2_Missense_Mutation_p.E406K|COLQ_ENST00000603808.1_Missense_Mutation_p.E416K	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	415					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.E405K(2)|p.E415K(2)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCACAGTCCTCCACACCCTCA	0.587																																							uc003bzx.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1243-1245)GAG>AAG		acetylcholinesterase collagen-like tail subunit							179.0	141.0	154.0					3																	15495391		2203	4300	6503	SO:0001583	missense	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15495391C>T	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.1243G>A	3.37:g.15495391C>T	ENSP00000373298:p.Glu415Lys					COLQ_uc003bzv.2_Missense_Mutation_p.E405K|COLQ_uc003bzz.2_Missense_Mutation_p.E406K|COLQ_uc010heo.2_Missense_Mutation_p.E381K|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.E274K|COLQ_uc003cad.1_RNA	p.E415K	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			16	1369	-			415					B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	c.1243G>A	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921260	0.73213	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786	D;D;D;D;D	0.94897	-3.37;-3.55;-3.44;-3.41;-3.38	5.3	5.3	0.74995	.	0.219881	0.46442	D	0.000296	D	0.97561	0.9201	M	0.93241	3.395	0.80722	D	1	P;B;P;D	0.58268	0.838;0.353;0.858;0.982	B;B;B;P	0.56343	0.437;0.15;0.387;0.796	D	0.98368	1.0552	10	0.66056	D	0.02	-9.8821	18.9388	0.92597	0.0:1.0:0.0:0.0	.	381;406;415;405	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	K	406;405;405;415;405;416;381	ENSP00000373297:E406K;ENSP00000373291:E405K;ENSP00000402511:E405K;ENSP00000373298:E415K;ENSP00000373296:E381K	ENSP00000373291:E405K	E	-	1	0	COLQ	15470395	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.416000	0.80143	2.485000	0.83878	0.462000	0.41574	GAG		0.587	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		6	18	0	0	0	0.001984	0	6	18				
PLCL2	23228	broad.mit.edu	37	3	17053070	17053070	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:17053070A>T	ENST00000418129.2	+	2	2319	c.1854A>T	c.(1852-1854)acA>acT	p.T618T	PLCL2_ENST00000396755.2_Silent_p.T618T|PLCL2_ENST00000432376.1_Silent_p.T618T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	744	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.T618T(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCGCCAATACAAAAGACTCTG	0.507																																							uc011awc.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(2206-2208)ACA>ACT		phospholipase C-like 2 isoform 1							54.0	56.0	55.0					3																	17053070		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17053070A>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1854A>T	3.37:g.17053070A>T						PLCL2_uc011awd.1_Silent_p.T618T	p.T736T	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	2313	+			744			C2.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.2208A>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	A	3.996	-0.003549	0.07773	.	.	ENSG00000154822	ENST00000419842	.	.	.	4.96	-9.92	0.00455	.	.	.	.	.	T	0.48642	0.1511	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.59841	-0.7378	4	.	.	.	.	9.8312	0.40944	0.3636:0.499:0.1374:0.0	.	.	.	.	L	362	.	.	Q	+	2	0	PLCL2	17028074	0.000000	0.05858	0.085000	0.20634	0.995000	0.86356	-3.772000	0.00370	-2.433000	0.00555	0.459000	0.35465	CAA		0.507	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			5	25	0	0	0	0.000602	0	5	25				
ZNF860	344787	broad.mit.edu	37	3	32031984	32031984	+	Silent	SNP	T	T	A	rs553732034	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:32031984T>A	ENST00000360311.4	+	2	1962	c.1413T>A	c.(1411-1413)atT>atA	p.I471I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I471I(2)		endometrium(3)|lung(4)|ovary(1)	8						CCCTTGTAATTCATAAGGCAA	0.408																																							uc011axg.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1411-1413)ATT>ATA		zinc finger protein 860							17.0	39.0	32.0					3																	32031984		690	1584	2274	SO:0001819	synonymous_variant	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031984T>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1413T>A	3.37:g.32031984T>A							p.I471I	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	1962	+			471			C2H2-type 9.		B4DFA4	Silent	SNP	ENST00000360311.4	37	c.1413T>A	CCDS46784.1																																																																																				0.408	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			6	24	0	0	0	0.001984	0	6	24				
ARPP21	10777	broad.mit.edu	37	3	35778819	35778819	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:35778819C>A	ENST00000187397.4	+	16	2065	c.1609C>A	c.(1609-1611)Ccg>Acg	p.P537T	ARPP21_ENST00000337271.5_Missense_Mutation_p.P483T|ARPP21_ENST00000417925.1_Missense_Mutation_p.P503T|ARPP21_ENST00000458225.1_Missense_Mutation_p.P503T|ARPP21_ENST00000444190.1_Missense_Mutation_p.P483T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	537	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGTCCAGCCACCGCAGCCACA	0.642																																							uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(1609-1611)CCG>ACG		cyclic AMP-regulated phosphoprotein, 21 kD							26.0	28.0	27.0					3																	35778819		2199	4292	6491	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778819C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1609C>A	3.37:g.35778819C>A	ENSP00000187397:p.Pro537Thr					ARPP21_uc003cga.2_Missense_Mutation_p.P483T|ARPP21_uc011axy.1_Missense_Mutation_p.P503T|ARPP21_uc003cgf.2_Missense_Mutation_p.P338T|ARPP21_uc003cgg.2_Missense_Mutation_p.P25T	p.P537T	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			16	1873	+			537			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1609C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253013	0.39797	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.45276	0.9;0.9;0.9;1.09;0.9	5.59	2.78	0.32641	.	0.376544	0.26457	N	0.024261	T	0.35508	0.0934	L	0.53249	1.67	0.18873	N	0.999985	B;B;B;B	0.22414	0.004;0.069;0.002;0.004	B;B;B;B	0.24701	0.005;0.055;0.002;0.005	T	0.23476	-1.0187	10	0.33141	T	0.24	0.1262	8.4056	0.32612	0.0:0.73:0.1285:0.1415	.	503;25;537;483	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	T	503;483;483;537;503	ENSP00000414351:P503T;ENSP00000337792:P483T;ENSP00000405276:P483T;ENSP00000187397:P537T;ENSP00000412326:P503T	ENSP00000187397:P537T	P	+	1	0	ARPP21	35753823	0.067000	0.21026	0.013000	0.15412	0.813000	0.45954	1.539000	0.36104	0.388000	0.25054	0.655000	0.94253	CCG		0.642	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		10	37	1	0	3.86212e-05	0.008291	4.21639e-05	10	37				
SCN10A	6336	broad.mit.edu	37	3	38770045	38770045	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:38770045T>C	ENST00000449082.2	-	15	2627	c.2628A>G	c.(2626-2628)ctA>ctG	p.L876L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	876					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L876L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCAGGTTCCCTAGCACCATCA	0.502																																							uc003ciq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2626-2628)CTA>CTG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						75.0	67.0	70.0					3																	38770045		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770045T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2628A>G	3.37:g.38770045T>C							p.L876L	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2628	-			876			II.|Helical; Name=S6 of repeat II; (Potential).		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2628A>G	CCDS33736.1																																																																																				0.502	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		6	38	0	0	0	0.001984	0	6	38				
TTC21A	199223	broad.mit.edu	37	3	39161449	39161449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:39161449G>T	ENST00000431162.2	+	8	996	c.862G>T	c.(862-864)Gag>Tag	p.E288*	TTC21A_ENST00000301819.6_Nonsense_Mutation_p.E288*|TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E239*			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	288								p.E288*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAAGGCACTAGAGACAAGGGA	0.448																																							uc003cjc.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(862-864)GAG>TAG		tetratricopeptide repeat domain 21A isoform 2							118.0	126.0	123.0					3																	39161449		1889	4112	6001	SO:0001587	stop_gained	199223						binding	g.chr3:39161449G>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.862G>T	3.37:g.39161449G>T	ENSP00000398211:p.Glu288*					TTC21A_uc003cje.2_Nonsense_Mutation_p.E288*|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Nonsense_Mutation_p.E239*	p.E288*	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	1039	+			288					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Nonsense_Mutation	SNP	ENST00000431162.2	37	c.862G>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457638	0.43634	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	.	.	.	5.67	4.8	0.61643	.	0.209277	0.37219	N	0.002194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-30.0083	13.7724	0.63034	0.0747:0.0:0.9253:0.0	.	.	.	.	X	288;280;288;239	.	ENSP00000301819:E288X	E	+	1	0	TTC21A	39136453	1.000000	0.71417	0.071000	0.20095	0.335000	0.28730	4.903000	0.63272	1.408000	0.46895	-0.137000	0.14449	GAG		0.448	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		15	49	1	0	8.60227e-14	0.004007	1.11224e-13	15	49				
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416|rs121913403		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGAATCCATTCTGGTGCCACT	0.498	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	Colon(6;3 56 14213 18255)	uc010hia.1	S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM)	15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	474	Substitution - Missense(344)|Deletion - In frame(102)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)	liver(145)|endometrium(64)|stomach(38)|skin(34)|ovary(33)|central_nervous_system(28)|pancreas(28)|large_intestine(22)|pituitary(22)|lung(21)|biliary_tract(15)|thyroid(4)|soft_tissue(4)|urinary_tract(4)|small_intestine(3)|oesophagus(3)|adrenal_gland(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)|breast(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(109-111)TCT>TGT		beta-catenin	Lithium(DB01356)						93.0	78.0	83.0					3																	41266113		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266113C>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.110C>G	3.37:g.41266113C>G	ENSP00000344456:p.Ser37Cys					CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C|CTNNB1_uc011azf.1_Missense_Mutation_p.S30C|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.S37C	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	266	+			37		S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.110C>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407996	0.83340	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75297	-0.3367	10	0.87932	D	0	-15.9763	19.9596	0.97236	0.0:1.0:0.0:0.0	.	37	P35222	CTNB1_HUMAN	C	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30C;ENSP00000385604:S37C;ENSP00000412219:S37C;ENSP00000379486:S37C;ENSP00000344456:S37C;ENSP00000411226:S30C;ENSP00000379488:S37C;ENSP00000409302:S37C;ENSP00000401599:S37C	ENSP00000344456:S37C	S	+	2	0	CTNNB1	41241117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	15	0	0	0	0.000602	0	5	15				
NKTR	4820	broad.mit.edu	37	3	42680905	42680905	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:42680905G>T	ENST00000232978.8	+	13	3897	c.3709G>T	c.(3709-3711)Gca>Tca	p.A1237S	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1237					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A1237S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAACCTGGCAGCACCTAATGC	0.478																																							uc003clo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3709-3711)GCA>TCA		natural killer-tumor recognition sequence							75.0	85.0	81.0					3																	42680905		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680905G>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3709G>T	3.37:g.42680905G>T	ENSP00000232978:p.Ala1237Ser					NKTR_uc003clm.1_Missense_Mutation_p.A984S|NKTR_uc003clp.2_Missense_Mutation_p.A984S|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.A1127S|NKTR_uc003clr.1_Missense_Mutation_p.A984S|NKTR_uc003cls.2_Missense_Mutation_p.A937S	p.A1237S	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3856	+			1237						Missense_Mutation	SNP	ENST00000232978.8	37	c.3709G>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227945	0.58777	.	.	ENSG00000114857	ENST00000232978	D	0.81739	-1.53	5.22	2.35	0.29111	.	0.727096	0.13833	N	0.359580	T	0.74876	0.3774	L	0.56280	1.765	0.18873	N	0.999985	P;B	0.42248	0.774;0.007	B;B	0.42495	0.389;0.01	T	0.64719	-0.6341	10	0.54805	T	0.06	-0.5822	4.8725	0.13640	0.0817:0.3527:0.4362:0.1295	.	937;1237	Q6M1B8;P30414	.;NKTR_HUMAN	S	1237	ENSP00000232978:A1237S	ENSP00000232978:A1237S	A	+	1	0	NKTR	42655909	0.000000	0.05858	0.000000	0.03702	0.660000	0.38997	-0.053000	0.11846	0.262000	0.21774	0.563000	0.77884	GCA		0.478	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		9	46	1	0	1.04858e-14	0.006214	1.36795e-14	9	46				
TDGF1	6997	broad.mit.edu	37	3	46620584	46620584	+	Splice_Site	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:46620584G>C	ENST00000296145.5	+	2	768		c.e2-1		TDGF1_ENST00000542931.1_Splice_Site|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1						activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.?(2)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCTCTTCCTAGTGTGATTTGG	0.413																																							uc003cpv.2		NA																	2	Unknown(2)		lung(2)		0						c.e2-1		teratocarcinoma-derived growth factor 1							200.0	184.0	189.0					3																	46620584		2203	4300	6503	SO:0001630	splice_region_variant	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46620584G>C	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.36-1G>C	3.37:g.46620584G>C						LRRC2_uc003cpu.3_Intron	p.S12_splice	NM_003212	NP_003203	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	316	+								Q8TCC1	Splice_Site	SNP	ENST00000296145.5	37	c.36_splice	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186495	0.57909	.	.	ENSG00000241186	ENST00000296145	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7999	0.57580	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC104304.1	46595588	0.996000	0.38824	0.943000	0.38184	0.990000	0.78478	3.794000	0.55492	2.735000	0.93741	0.655000	0.94253	.		0.413	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212	Intron	17	65	0	0	0	0.006122	0	17	65				
TREX1	11277	broad.mit.edu	37	3	48508518	48508518	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:48508518G>C	ENST00000422277.2	+	1	1290	c.629G>C	c.(628-630)aGc>aCc	p.S210T	TREX1_ENST00000296443.9_Missense_Mutation_p.S155T|TREX1_ENST00000444177.1_Missense_Mutation_p.S145T|TREX1_ENST00000436480.2_Missense_Mutation_p.S155T|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000456089.1_Missense_Mutation_p.S16T|TREX1_ENST00000433541.1_Missense_Mutation_p.S16T|TREX1_ENST00000492235.1_3'UTR	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	210					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)	p.S210T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGTGTGGATAGCATCACTGCG	0.602																																							uc003ctj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(628-630)AGC>ACC	Direct_reversal_of_damage|Editing_and_processing_nucleases	three prime repair exonuclease 1 isoform b							71.0	69.0	70.0					3																	48508518		2203	4300	6503	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508518G>C	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.629G>C	3.37:g.48508518G>C	ENSP00000390478:p.Ser210Thr					TREX1_uc010hjy.2_Missense_Mutation_p.S155T|TREX1_uc003ctk.2_Missense_Mutation_p.S16T|TREX1_uc010hjz.2_Missense_Mutation_p.S155T|TREX1_uc010hka.2_Missense_Mutation_p.S210T	p.S210T	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	1886	+			210					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.629G>C	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319662	0.23994	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	4.99	4.99	0.66335	Ribonuclease H-like (1);	0.253736	0.27581	U	0.018728	D	0.93429	0.7904	L	0.39147	1.195	0.29797	N	0.832722	D	0.71674	0.998	D	0.77004	0.989	D	0.87142	0.2203	10	0.11182	T	0.66	.	11.6468	0.51265	0.0:0.1795:0.8204:0.0	.	210	Q9NSU2	TREX1_HUMAN	T	155;16;155;210;145;16	ENSP00000296443:S155T;ENSP00000412404:S16T;ENSP00000392569:S155T;ENSP00000390478:S210T;ENSP00000415972:S145T;ENSP00000411331:S16T	ENSP00000296443:S155T	S	+	2	0	TREX1	48483522	1.000000	0.71417	0.995000	0.50966	0.702000	0.40608	2.164000	0.42387	2.301000	0.77427	0.655000	0.94253	AGC		0.602	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		11	68	0	0	0	0.010729	0	11	68				
APEH	327	broad.mit.edu	37	3	49720763	49720763	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:49720763C>G	ENST00000296456.5	+	22	2587	c.2187C>G	c.(2185-2187)caC>caG	p.H729Q	APEH_ENST00000438011.1_Missense_Mutation_p.H734Q|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	729					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.H729Q(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACGCACACACTTGGGCAGCT	0.567																																							uc003cxf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2185-2187)CAC>CAG		N-acylaminoacyl-peptide hydrolase							113.0	108.0	109.0					3																	49720763		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49720763C>G	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.2187C>G	3.37:g.49720763C>G	ENSP00000296456:p.His729Gln					APEH_uc010hkw.1_Missense_Mutation_p.H734Q	p.H729Q	NM_001640	NP_001631	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	22	2587	+			729					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.2187C>G	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194600	0.78902	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.47177	0.85;0.85	5.75	5.75	0.90469	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.72479	2.2	0.58432	D	0.999997	D;P	0.69078	0.997;0.937	D;P	0.71414	0.973;0.867	T	0.66767	-0.5840	10	0.54805	T	0.06	-3.6981	13.177	0.59633	0.0:0.9274:0.0:0.0726	.	734;729	C9JIF9;P13798	.;ACPH_HUMAN	Q	729;734	ENSP00000296456:H729Q;ENSP00000415862:H734Q	ENSP00000296456:H729Q	H	+	3	2	APEH	49695767	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.299000	0.43611	2.714000	0.92807	0.561000	0.74099	CAC		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			20	105	0	0	0	0.010504	0	20	105				
CAMKV	79012	broad.mit.edu	37	3	49897671	49897671	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:49897671G>C	ENST00000477224.1	-	10	1353	c.875C>G	c.(874-876)tCt>tGt	p.S292C	CAMKV_ENST00000467248.1_Missense_Mutation_p.S217C|CAMKV_ENST00000488336.1_Missense_Mutation_p.S292C|CAMKV_ENST00000296471.7_Missense_Mutation_p.S264C|CAMKV_ENST00000463537.1_Missense_Mutation_p.S292C|CAMKV_ENST00000466940.1_Missense_Mutation_p.S249C|CAMKV_ENST00000498324.1_5'Flank			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	292						cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.S292C(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTTCTTATCAGAAGCAGCATT	0.488																																							uc003cxt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7						c.(874-876)TCT>TGT		CaM kinase-like vesicle-associated							119.0	116.0	117.0					3																	49897671		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49897671G>C	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.875C>G	3.37:g.49897671G>C	ENSP00000419195:p.Ser292Cys					CAMKV_uc011bcy.1_Missense_Mutation_p.S217C|CAMKV_uc003cxv.1_Missense_Mutation_p.S264C|CAMKV_uc003cxw.1_Missense_Mutation_p.S124C|CAMKV_uc003cxx.1_Missense_Mutation_p.S124C|CAMKV_uc003cxu.2_Missense_Mutation_p.S292C|CAMKV_uc011bcz.1_Missense_Mutation_p.S255C|CAMKV_uc011bda.1_Missense_Mutation_p.S249C|CAMKV_uc011bdb.1_RNA	p.S292C	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	10	1068	-			292					A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.875C>G	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543487	0.86022	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.67865	0.22;-0.26;1.03;-0.29;0.72;1.51	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.41712	D	0.000824	D	0.82604	0.5073	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.78314	0.969;0.984;0.969;0.969;0.986;0.991;0.969	T	0.80134	-0.1509	10	0.38643	T	0.18	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	249;255;292;217;264;292;292	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	C	264;292;292;292;217;249	ENSP00000296471:S264C;ENSP00000418809:S292C;ENSP00000417614:S292C;ENSP00000419195:S292C;ENSP00000420053:S217C;ENSP00000420724:S249C	ENSP00000296471:S264C	S	-	2	0	CAMKV	49872675	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.401000	0.66326	2.882000	0.98803	0.655000	0.94253	TCT		0.488	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		13	36	0	0	0	0.013537	0	13	36				
GNAT1	2779	broad.mit.edu	37	3	50230588	50230588	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:50230588C>T	ENST00000433068.1	+	2	185	c.129C>T	c.(127-129)agC>agT	p.S43S	GNAT1_ENST00000232461.3_Silent_p.S43S	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	43					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCGGGAAGAGCACCATCGTCA	0.662											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003cym.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(127-129)AGC>AGT		rod-type transducin alpha subunit							73.0	68.0	69.0					3																	50230588		2203	4300	6503	SO:0001819	synonymous_variant	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50230588C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.129C>T	3.37:g.50230588C>T			OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	GNAT1_uc003cyl.2_Silent_p.S43S	p.S43S	NM_144499	NP_653082	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	245	+			43			GTP (By similarity).	Magnesium (By similarity).	Q4VBN2	Silent	SNP	ENST00000433068.1	37	c.129C>T	CCDS2812.1																																																																																				0.662	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		7	56	0	0	0	0.00308	0	7	56				
DOCK3	1795	broad.mit.edu	37	3	51392312	51392312	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:51392312G>A	ENST00000266037.9	+	41	4130		c.e41-1			NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.?(4)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTTGTGGCAGAACAAAGAAT	0.527																																							uc011bds.1		NA																	4	Unknown(4)		lung(4)		0						c.e41-1		dedicator of cytokinesis 3							144.0	146.0	145.0					3																	51392312		2076	4209	6285	SO:0001630	splice_region_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51392312G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4108-1G>A	3.37:g.51392312G>A							p.N1370_splice	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	41	4131	+								O15017	Splice_Site	SNP	ENST00000266037.9	37	c.4108_splice	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349979	0.95830	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8481	0.96728	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK3	51367352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.860000	0.99555	2.705000	0.92388	0.650000	0.86243	.		0.527	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	Intron	26	92	0	0	0	0.005443	0	26	92				
RAD54L2	23132	broad.mit.edu	37	3	51663464	51663464	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:51663464T>C	ENST00000409535.2	+	4	581	c.456T>C	c.(454-456)ccT>ccC	p.P152P	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	152						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.P152P(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCCCTATTCCTACTGTTCCGC	0.527																																							uc011bdt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(454-456)CCT>CCC		RAD54-like 2							90.0	81.0	84.0					3																	51663464		2203	4300	6503	SO:0001819	synonymous_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51663464T>C	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.456T>C	3.37:g.51663464T>C						RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_5'UTR|RAD54L2_uc003dbj.2_5'Flank	p.P152P	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	4	581	+			152					Q8TB57|Q9BV54	Silent	SNP	ENST00000409535.2	37	c.456T>C	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	T	1.190	-0.635627	0.03584	.	.	ENSG00000164080	ENST00000432863	.	.	.	5.55	-2.65	0.06095	.	.	.	.	.	T	0.52256	0.1723	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.49031	-0.8981	4	.	.	.	-12.2066	8.4747	0.33005	0.1057:0.496:0.0:0.3983	.	.	.	.	H	20	.	.	Y	+	1	0	RAD54L2	51638504	0.007000	0.16637	0.223000	0.23860	0.194000	0.23727	-0.380000	0.07427	-0.353000	0.08224	-0.256000	0.11100	TAC		0.527	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		3	14	0	0	0	0.004672	0	3	14				
TLR9	54106	broad.mit.edu	37	3	52257047	52257047	+	Nonsense_Mutation	SNP	C	C	A	rs561203848		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:52257047C>A	ENST00000360658.2	-	2	1918	c.1285G>T	c.(1285-1287)Gga>Tga	p.G429*	TLR9_ENST00000494383.1_Missense_Mutation_p.R582L|TLR9_ENST00000597542.1_Nonsense_Mutation_p.G453*	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	429					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.G429*(2)|p.G429R(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TCCGAAGCTCCGCTGATGCGG	0.642																																							uc003dda.1		NA																	3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)	large_intestine(2)|skin(2)	4						c.(1285-1287)GGA>TGA		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						76.0	78.0	77.0					3																	52257047		2203	4300	6503	SO:0001587	stop_gained	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257047C>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1285G>T	3.37:g.52257047C>A	ENSP00000353874:p.Gly429*					TLR9_uc003ddb.2_Nonsense_Mutation_p.G526*	p.G429*	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1919	-			429			LRR 14.|Extracellular (Potential).		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Nonsense_Mutation	SNP	ENST00000360658.2	37	c.1285G>T	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.915724|7.915724	0.98560|0.98560	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	.|.	.|.	.|.	5.23|5.23	2.39|2.39	0.29439|0.29439	.|.	0.211816|.	0.24481|.	N|.	0.038145|.	.|T	.|0.55657	.|0.1934	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48854	.|-0.8998	.|4	0.38643|.	T|.	0.18|.	.|.	7.5897|7.5897	0.28015|0.28015	0.0:0.6432:0.0:0.3568|0.0:0.6432:0.0:0.3568	.|.	.|.	.|.	.|.	X|L	429|582	.|.	ENSP00000353874:G429X|.	G|R	-|-	1|2	0|0	TLR9|RP11-330H6.5	52232087|52232087	0.000000|0.000000	0.05858|0.05858	0.056000|0.056000	0.19401|0.19401	0.065000|0.065000	0.16274|0.16274	0.613000|0.613000	0.24299|0.24299	0.694000|0.694000	0.31654|0.31654	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.642	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			46	141	1	0	3.86361e-14	0.01441	5.00889e-14	46	141				
GLYCTK	132158	broad.mit.edu	37	3	52324415	52324415	+	Silent	SNP	C	C	G	rs530549463		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:52324415C>G	ENST00000436784.2	+	2	117	c.57C>G	c.(55-57)ctC>ctG	p.L19L	GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Silent_p.L19L|GLYCTK_ENST00000473032.1_Silent_p.L19L|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000305690.8_Silent_p.L19L|GLYCTK_ENST00000354773.4_Silent_p.L19L			Q8IVS8	GLCTK_HUMAN	glycerate kinase	19					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)	p.L19L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TGCATCCACTCCTCTGGCGGG	0.682																																							uc003ddo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)CTC>CTG		glycerate kinase isoform 1							18.0	20.0	19.0					3																	52324415		2165	4238	6403	SO:0001819	synonymous_variant	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52324415C>G		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.57C>G	3.37:g.52324415C>G						GLYCTK_uc003ddq.2_Silent_p.L19L|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Silent_p.L19L|GLYCTK_uc003ddr.2_5'Flank	p.L19L	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	2	153	+			19					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Silent	SNP	ENST00000436784.2	37	c.57C>G	CCDS2852.1																																																																																				0.682	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		9	30	0	0	0	0.006214	0	9	30				
DNAH1	25981	broad.mit.edu	37	3	52429689	52429689	+	Missense_Mutation	SNP	G	G	T	rs371889881		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:52429689G>T	ENST00000420323.2	+	70	11515	c.11254G>T	c.(11254-11256)Gac>Tac	p.D3752Y		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3817	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3752Y(1)|p.D3816Y(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCAACCCCGACAAGGTGTG	0.562																																							uc011bef.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(11254-11256)GAC>TAC		dynein, axonemal, heavy chain 1							32.0	37.0	35.0					3																	52429689		2090	4230	6320	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429689G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11254G>T	3.37:g.52429689G>T	ENSP00000401514:p.Asp3752Tyr					DNAH1_uc003ddv.2_Missense_Mutation_p.D610Y	p.D3752Y	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	70	11515	+			3817			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11254G>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973639	0.53720	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.25749	1.78	4.17	4.17	0.49024	.	0.076449	0.50627	D	0.000108	T	0.49762	0.1576	M	0.83312	2.635	0.45295	D	0.998297	D;D	0.64830	0.981;0.994	D;P	0.66847	0.947;0.842	T	0.54603	-0.8269	10	0.62326	D	0.03	.	10.7933	0.46445	0.1017:0.0:0.8983:0.0	.	3752;3817	C9JXH6;Q9P2D7-2	.;.	Y	3752;505	ENSP00000401514:D3752Y	ENSP00000273600:D505Y	D	+	1	0	DNAH1	52404729	1.000000	0.71417	0.995000	0.50966	0.452000	0.32318	3.531000	0.53546	2.154000	0.67381	0.591000	0.81541	GAC		0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	15	1	0	1.23904e-05	0.000602	1.37125e-05	5	15				
ACTR8	93973	broad.mit.edu	37	3	53908248	53908248	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:53908248T>C	ENST00000335754.3	-	8	1155	c.1055A>G	c.(1054-1056)cAt>cGt	p.H352R	ACTR8_ENST00000231909.7_Intron|ACTR8_ENST00000482349.1_Missense_Mutation_p.H241R	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	352					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)	p.H352R(1)		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)		CTGATCTAAATGACAAAAAGT	0.343																																							uc003dhd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1054-1056)CAT>CGT		actin-related protein 8							49.0	49.0	49.0					3																	53908248		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.chr3:53908248T>C		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.1055A>G	3.37:g.53908248T>C	ENSP00000336842:p.His352Arg					ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.H241R	p.H352R	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)	8	1114	-			352					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.1055A>G	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285487	0.80803	.	.	ENSG00000113812	ENST00000335754;ENST00000482349	D;D	0.93811	-3.29;-3.29	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96349	0.8809	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95419	0.8505	10	0.25106	T	0.35	-13.2373	14.239	0.65945	0.0:0.0:0.0:1.0	.	352	Q9H981	ARP8_HUMAN	R	352;241	ENSP00000336842:H352R;ENSP00000419429:H241R	ENSP00000336842:H352R	H	-	2	0	ACTR8	53883288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.658000	0.83755	2.096000	0.63516	0.519000	0.50382	CAT		0.343	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		5	26	0	0	0	0.000602	0	5	26				
FLNB	2317	broad.mit.edu	37	3	58116633	58116633	+	Missense_Mutation	SNP	G	G	C	rs200849899		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:58116633G>C	ENST00000295956.4	+	25	4553	c.4388G>C	c.(4387-4389)cGa>cCa	p.R1463P	FLNB_ENST00000358537.3_Missense_Mutation_p.R1463P|FLNB_ENST00000357272.4_Missense_Mutation_p.R1463P|FLNB_ENST00000490882.1_Missense_Mutation_p.R1463P|FLNB_ENST00000348383.5_Missense_Mutation_p.R1463P|FLNB_ENST00000419752.2_Missense_Mutation_p.R1294P|FLNB_ENST00000429972.2_Missense_Mutation_p.R1463P|FLNB_ENST00000493452.1_Missense_Mutation_p.R1294P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1463	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R1463P(4)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTGGGCCCACGAGGTAAGTGT	0.617																																							uc003djj.2		NA																	4	Substitution - Missense(4)		lung(4)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(4387-4389)CGA>CCA		filamin B isoform 2							25.0	24.0	24.0					3																	58116633		2202	4300	6502	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58116633G>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4388G>C	3.37:g.58116633G>C	ENSP00000295956:p.Arg1463Pro					FLNB_uc010hne.2_Missense_Mutation_p.R1463P|FLNB_uc003djk.2_Missense_Mutation_p.R1463P|FLNB_uc010hnf.2_Missense_Mutation_p.R1463P|FLNB_uc003djl.2_Missense_Mutation_p.R1294P|FLNB_uc003djm.2_Missense_Mutation_p.R1294P	p.R1463P	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	25	4553	+			1463			Filamin 13.|Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4388G>C	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166296	0.78339	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;D;D;T;T;T;D;T	0.91894	-0.61;-1.9;-2.93;-0.61;-0.61;-0.61;-2.93;-0.61	5.42	5.42	0.78866	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.049810	0.85682	D	0.000000	D	0.94046	0.8092	L	0.37750	1.13	0.58432	D	0.999994	D;D;D;P;D;D	0.61080	0.98;0.976;0.989;0.812;0.984;0.984	P;P;D;P;D;D	0.70016	0.872;0.772;0.967;0.587;0.922;0.947	D	0.94476	0.7689	10	0.62326	D	0.03	.	19.2155	0.93776	0.0:0.0:1.0:0.0	.	1463;1463;1294;1294;1463;1463	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	P	1463;1463;1463;1463;1463;1463;1294;1294	ENSP00000295956:R1463P;ENSP00000420213:R1463P;ENSP00000351339:R1463P;ENSP00000415599:R1463P;ENSP00000232447:R1463P;ENSP00000349819:R1463P;ENSP00000418510:R1294P;ENSP00000414532:R1294P	ENSP00000295956:R1463P	R	+	2	0	FLNB	58091673	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.533000	0.60615	2.553000	0.86117	0.655000	0.94253	CGA		0.617	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		9	19	0	0	0	0.004482	0	9	19				
CHMP2B	25978	broad.mit.edu	37	3	87302615	87302615	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:87302615T>C	ENST00000263780.4	+	5	724	c.486T>C	c.(484-486)atT>atC	p.I162I	CHMP2B_ENST00000471660.1_Silent_p.I121I|CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000494980.1_Silent_p.I132I	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	162					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)	p.I162I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCCAGGATATTGTGAATCAAG	0.378																																							uc003dqp.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(484-486)ATT>ATC		chromatin modifying protein 2B							109.0	105.0	106.0					3																	87302615		2203	4300	6503	SO:0001819	synonymous_variant	25978				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	g.chr3:87302615T>C	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.486T>C	3.37:g.87302615T>C						CHMP2B_uc011bgn.1_Silent_p.I121I	p.I162I	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	5	746	+	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	162					B4DJG8|Q53HC7|Q9Y4U6	Silent	SNP	ENST00000263780.4	37	c.486T>C	CCDS2918.1																																																																																				0.378	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		3	19	0	0	0	0.004672	0	3	19				
EPHA3	2042	broad.mit.edu	37	3	89528582	89528582	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:89528582C>G	ENST00000336596.2	+	17	3107	c.2882C>G	c.(2881-2883)cCa>cGa	p.P961R	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	961	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P961R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGGTTGGGCCACAGAAGAAG	0.428										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2881-2883)CCA>CGA		ephrin receptor EphA3 isoform a precursor							97.0	86.0	90.0					3																	89528582		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89528582C>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2882C>G	3.37:g.89528582C>G	ENSP00000337451:p.Pro961Arg	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.P961R	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	17	3107	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	961			Cytoplasmic (Potential).|SAM.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2882C>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267825	0.59540	.	.	ENSG00000044524	ENST00000336596	T	0.06449	3.3	5.72	5.72	0.89469	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.050410	0.85682	D	0.000000	T	0.12860	0.0312	L	0.44542	1.39	0.80722	D	1	P	0.47106	0.89	P	0.49047	0.599	T	0.01553	-1.1326	9	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	961	P29320	EPHA3_HUMAN	R	961	ENSP00000337451:P961R	.	P	+	2	0	EPHA3	89611272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.670000	0.68088	2.857000	0.98124	0.650000	0.86243	CCA		0.428	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		4	24	0	0	0	0.009096	0	4	24				
PROS1	5627	broad.mit.edu	37	3	93646105	93646105	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:93646105C>A	ENST00000394236.3	-	2	539	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	75	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTTTCCGGGTCATTTTCAAAG	0.393																																							uc003drb.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(223-225)GAC>TAC		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						108.0	106.0	107.0					3																	93646105		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646105C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.223G>T	3.37:g.93646105C>A	ENSP00000377783:p.Asp75Tyr					PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR	p.D75Y	NM_000313	NP_000304	P07225	PROS_HUMAN			2	564	-			75			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.223G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295186	0.23564	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99136	-5.47;-5.47	4.53	-3.48	0.04739	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.909761	0.09515	N	0.791773	D	0.97882	0.9304	M	0.87617	2.895	0.20873	N	0.999833	B	0.18610	0.029	B	0.15870	0.014	D	0.94192	0.7442	10	0.72032	D	0.01	.	7.3107	0.26473	0.1144:0.2822:0.0:0.6033	.	75	P07225	PROS_HUMAN	Y	75;107	ENSP00000377783:D75Y;ENSP00000330021:D107Y	ENSP00000330021:D107Y	D	-	1	0	PROS1	95128795	0.089000	0.21612	0.017000	0.16124	0.887000	0.51463	-0.195000	0.09546	-0.814000	0.04352	0.448000	0.29417	GAC		0.393	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		15	116	1	0	6.33239e-15	0.010504	8.27599e-15	15	116				
EPHA6	285220	broad.mit.edu	37	3	96706570	96706570	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:96706570C>G	ENST00000389672.5	+	3	885	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	EPHA6_ENST00000470610.2_Missense_Mutation_p.Q283E|EPHA6_ENST00000542517.1_Missense_Mutation_p.Q189E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	189						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.Q189E(4)|p.Q283E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGCTTTTCAAGACATTGG	0.458																																							uc010how.1		NA																	6	Substitution - Missense(6)		lung(6)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(847-849)CAA>GAA		EPH receptor A6 isoform a							229.0	238.0	235.0					3																	96706570		1939	4180	6119	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706570C>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.847C>G	3.37:g.96706570C>G	ENSP00000374323:p.Gln283Glu					EPHA6_uc003drp.1_Missense_Mutation_p.Q283E	p.Q283E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	890	+			188			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.847C>G	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.242669|4.242669	0.79912|0.79912	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.03889|.	3.77;3.77;3.77|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	D|.	0.85146|.	0.5630|.	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.85130|.	0.997;0.996|.	D|.	0.87671|.	0.2541|.	10|.	0.87932|.	D|.	0|.	.|.	18.3424|18.3424	0.90309|0.90309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	283;283|.	B3KS12;E7EU71|.	.;.|.	E|X	283;283;189|227	ENSP00000420598:Q283E;ENSP00000374323:Q283E;ENSP00000439758:Q189E|.	ENSP00000374323:Q283E|.	Q|S	+|+	1|2	0|0	EPHA6|EPHA6	98189260|98189260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	7.818000|7.818000	0.86416|0.86416	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.458	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		83	88	0	0	0	0.01441	0	83	88				
SENP7	57337	broad.mit.edu	37	3	101056447	101056447	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:101056447C>T	ENST00000394095.2	-	17	2439	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SENP7_ENST00000348610.3_Missense_Mutation_p.E763K|SENP7_ENST00000394094.2_Missense_Mutation_p.E731K|SENP7_ENST00000314261.7_Missense_Mutation_p.E730K|SENP7_ENST00000394091.1_Missense_Mutation_p.E632K|SENP7_ENST00000358203.3_Missense_Mutation_p.E632K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	796	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.E730K(1)|p.E796K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAACAAGTTCATCTGATGCC	0.318																																							uc003dut.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)	5						c.(2386-2388)GAA>AAA		sentrin/SUMO-specific protease 7 isoform 1							77.0	81.0	79.0					3																	101056447		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101056447C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2386G>A	3.37:g.101056447C>T	ENSP00000377655:p.Glu796Lys					SENP7_uc003duu.2_Missense_Mutation_p.E731K|SENP7_uc003duv.2_Missense_Mutation_p.E763K|SENP7_uc003duw.2_Missense_Mutation_p.E730K|SENP7_uc003dux.2_Missense_Mutation_p.E632K	p.E796K	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			17	2497	-			796			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2386G>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285209	0.59867	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.53	4.65	0.58169	.	0.566062	0.18482	N	0.139915	T	0.23210	0.0561	N	0.11927	0.2	0.44289	D	0.997156	B;B;P;B	0.38535	0.208;0.165;0.635;0.082	B;B;P;B	0.45856	0.11;0.142;0.495;0.065	T	0.03130	-1.1069	10	0.54805	T	0.06	-6.3487	8.6504	0.34031	0.0:0.7632:0.1545:0.0823	.	632;730;763;796	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	K	796;731;730;632;632;763	ENSP00000377655:E796K;ENSP00000377654:E731K;ENSP00000313624:E730K;ENSP00000377651:E632K;ENSP00000350936:E632K;ENSP00000342159:E763K	ENSP00000313624:E730K	E	-	1	0	SENP7	102539137	0.861000	0.29849	1.000000	0.80357	0.997000	0.91878	1.399000	0.34566	2.593000	0.87608	0.655000	0.94253	GAA		0.318	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		6	47	0	0	0	0.001168	0	6	47				
MORC1	27136	broad.mit.edu	37	3	108778673	108778673	+	Silent	SNP	C	C	T	rs564959353		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:108778673C>T	ENST00000483760.1	-	12	1054	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	MORC1_ENST00000232603.5_Silent_p.K337K					MORC family CW-type zinc finger 1									p.K337K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTAAGATTCTTTTGCTTTG	0.363																																							uc003dxl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|breast(2)	8						c.(1009-1011)AAG>AAA		MORC family CW-type zinc finger 1							156.0	134.0	141.0					3																	108778673		2203	4299	6502	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108778673C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1011G>A	3.37:g.108778673C>T						MORC1_uc011bhn.1_Silent_p.K337K	p.K337K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			12	1098	-			337			Potential.			Silent	SNP	ENST00000483760.1	37	c.1011G>A																																																																																					0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			6	11	0	0	0	0.001984	0	6	11				
PHLDB2	90102	broad.mit.edu	37	3	111603514	111603514	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:111603514G>A	ENST00000431670.2	+	2	1001	c.590G>A	c.(589-591)gGa>gAa	p.G197E	PHLDB2_ENST00000478922.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G197E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G224E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G197E|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G197E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	197						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.G197E(2)|p.G224E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCAGATCGGGAGCCGCAAGC	0.567																																							uc010hqa.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)	6						c.(589-591)GGA>GAA		pleckstrin homology-like domain, family B,							48.0	48.0	48.0					3																	111603514		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603514G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.590G>A	3.37:g.111603514G>A	ENSP00000405405:p.Gly197Glu					PHLDB2_uc003dyc.2_Missense_Mutation_p.G224E|PHLDB2_uc003dyd.2_Missense_Mutation_p.G197E|PHLDB2_uc003dyg.2_Missense_Mutation_p.G197E|PHLDB2_uc003dyh.2_Missense_Mutation_p.G197E|PHLDB2_uc003dye.3_Missense_Mutation_p.G197E|PHLDB2_uc003dyf.3_Missense_Mutation_p.G197E	p.G197E	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	1001	+			197					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.590G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048443	0.75846	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.45276	0.9;1.02;0.92;1.25;1.02;0.92	5.61	5.61	0.85477	.	0.162808	0.53938	N	0.000047	T	0.55401	0.1918	L	0.31926	0.97	0.58432	D	0.999999	B;D;D;P;B	0.89917	0.049;1.0;0.995;0.736;0.197	B;D;P;B;B	0.97110	0.018;1.0;0.799;0.275;0.09	T	0.56426	-0.7981	10	0.87932	D	0	.	16.9138	0.86146	0.0:0.0:1.0:0.0	.	197;197;197;197;224	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	E	224;224;197;197;197;197;197;197;197	ENSP00000377500:G224E;ENSP00000405405:G197E;ENSP00000405292:G197E;ENSP00000418296:G197E;ENSP00000377502:G197E;ENSP00000418319:G197E	ENSP00000352764:G224E	G	+	2	0	PHLDB2	113086204	1.000000	0.71417	0.978000	0.43139	0.838000	0.47535	7.070000	0.76763	2.813000	0.96785	0.655000	0.94253	GGA		0.567	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		6	31	0	0	0	0.001168	0	6	31				
QTRTD1	79691	broad.mit.edu	37	3	113798781	113798781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113798781G>A	ENST00000493014.1	+	4	525	c.457G>A	c.(457-459)Gag>Aag	p.E153K	QTRTD1_ENST00000479882.1_Missense_Mutation_p.E136K|QTRTD1_ENST00000485050.1_Missense_Mutation_p.E271K|QTRTD1_ENST00000281273.4_Missense_Mutation_p.E259K	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1									p.E259K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TCGGCCAGATGAGGTGCTCGA	0.408																																							uc003eay.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(775-777)GAG>AAG		queuine tRNA-ribosyltransferase domain							186.0	179.0	182.0					3																	113798781		2203	4300	6503	SO:0001583	missense	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113798781G>A	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.457G>A	3.37:g.113798781G>A	ENSP00000419169:p.Glu153Lys					QTRTD1_uc003eaz.2_Missense_Mutation_p.E271K|QTRTD1_uc011biq.1_Missense_Mutation_p.E136K|QTRTD1_uc011bir.1_Missense_Mutation_p.E153K	p.E259K	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN			8	1005	+			259						Missense_Mutation	SNP	ENST00000493014.1	37	c.775G>A	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123110	0.94429	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.72624	2.21	0.80722	D	1	D;P	0.54397	0.966;0.949	P;P	0.56612	0.802;0.688	T	0.74194	-0.3744	9	0.40728	T	0.16	-16.3992	19.5602	0.95369	0.0:0.0:1.0:0.0	.	153;259	B7Z472;Q9H974	.;QTRD1_HUMAN	K	271;259;136;153	.	ENSP00000281273:E259K	E	+	1	0	QTRTD1	115281471	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.317000	0.96327	2.630000	0.89119	0.555000	0.69702	GAG		0.408	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		15	125	0	0	0	0.00499	0	15	125				
DRD3	1814	broad.mit.edu	37	3	113866313	113866313	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113866313C>A	ENST00000460779.1	-	5	764	c.475G>T	c.(475-477)Gta>Tta	p.V159L	DRD3_ENST00000383673.2_Missense_Mutation_p.V159L|DRD3_ENST00000295881.7_Missense_Mutation_p.V159L|DRD3_ENST00000467632.1_Missense_Mutation_p.V159L	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	159					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.V159L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAGGCCAGTACCCAGACGGCC	0.542																																							uc003ebd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(475-477)GTA>TTA		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						149.0	128.0	135.0					3																	113866313		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113866313C>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.475G>T	3.37:g.113866313C>A	ENSP00000419402:p.Val159Leu					DRD3_uc010hqn.1_Missense_Mutation_p.V159L|DRD3_uc003ebb.1_Missense_Mutation_p.V159L|DRD3_uc003ebc.1_Missense_Mutation_p.V159L	p.V159L	NM_000796	NP_000787	P35462	DRD3_HUMAN			5	898	-			159			Helical; Name=4.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.475G>T	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608598	0.46527	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.46	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.199756	0.43110	N	0.000614	T	0.23451	0.0567	L	0.33624	1.015	0.54753	D	0.999989	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.16289	0.015;0.015;0.009;0.001	T	0.06516	-1.0822	10	0.30854	T	0.27	.	5.307	0.15809	0.1391:0.5152:0.2695:0.0761	.	159;159;159;159	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	L	159	ENSP00000419402:V159L;ENSP00000420662:V159L;ENSP00000373169:V159L;ENSP00000295881:V159L	ENSP00000281274:V159L	V	-	1	0	DRD3	115349003	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	1.413000	0.34725	0.827000	0.34685	0.655000	0.94253	GTA		0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		75	69	1	0	2.18329e-32	0.01441	3.05408e-32	75	69				
DRD3	1814	broad.mit.edu	37	3	113890706	113890706	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:113890706A>T	ENST00000460779.1	-	3	423	c.134T>A	c.(133-135)tTc>tAc	p.F45Y	DRD3_ENST00000383673.2_Missense_Mutation_p.F45Y|DRD3_ENST00000295881.7_Missense_Mutation_p.F45Y|DRD3_ENST00000467632.1_Missense_Mutation_p.F45Y	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	45					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.F45Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCATTGCCGAAGACGATGGC	0.607																																							uc003ebd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(133-135)TTC>TAC		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						79.0	70.0	73.0					3																	113890706		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113890706A>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.134T>A	3.37:g.113890706A>T	ENSP00000419402:p.Phe45Tyr					DRD3_uc010hqn.1_Missense_Mutation_p.F45Y|DRD3_uc003ebb.1_Missense_Mutation_p.F45Y|DRD3_uc003ebc.1_Missense_Mutation_p.F45Y	p.F45Y	NM_000796	NP_000787	P35462	DRD3_HUMAN			3	557	-			45			Helical; Name=1.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.134T>A	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	A	31	5.066462	0.93898	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	N	0.24115	0.695	0.80722	D	1	D;D;D;P	0.76494	0.998;0.999;0.998;0.71	D;D;D;P	0.81914	0.995;0.995;0.995;0.573	T	0.56535	-0.7963	10	0.87932	D	0	.	14.8765	0.70498	1.0:0.0:0.0:0.0	.	45;45;45;45	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	Y	45	ENSP00000419402:F45Y;ENSP00000420662:F45Y;ENSP00000373169:F45Y;ENSP00000295881:F45Y	ENSP00000281274:F45Y	F	-	2	0	DRD3	115373396	1.000000	0.71417	0.989000	0.46669	0.923000	0.55619	9.083000	0.94067	2.104000	0.64026	0.533000	0.62120	TTC		0.607	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		10	108	0	0	0	0.006214	0	10	108				
HGD	3081	broad.mit.edu	37	3	120352002	120352002	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:120352002C>A	ENST00000283871.5	-	13	1639	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	394					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.G394C(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ACCATGGTGCCATCGGCAATC	0.542																																							uc003edw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)GGC>TGC		homogentisate 1,2-dioxygenase							81.0	67.0	72.0					3																	120352002		2203	4297	6500	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120352002C>A		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1180G>T	3.37:g.120352002C>A	ENSP00000283871:p.Gly394Cys					HGD_uc003edv.2_Missense_Mutation_p.G253C	p.G394C	NM_000187	NP_000178	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	13	1550	-			394					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.1180G>T	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443921	0.83993	.	.	ENSG00000113924	ENST00000283871	D	0.99113	-5.44	5.2	5.2	0.72013	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	M	0.92412	3.305	0.80722	D	1	D	0.55800	0.973	P	0.53401	0.725	D	0.99505	1.0954	10	0.87932	D	0	-11.7772	17.9055	0.88917	0.0:1.0:0.0:0.0	.	394	Q93099	HGD_HUMAN	C	394	ENSP00000283871:G394C	ENSP00000283871:G394C	G	-	1	0	HGD	121834692	1.000000	0.71417	0.999000	0.59377	0.649000	0.38597	5.592000	0.67543	2.703000	0.92315	0.460000	0.39030	GGC		0.542	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			7	31	1	0	2.7689e-08	0.001984	3.30356e-08	7	31				
GOLGB1	2804	broad.mit.edu	37	3	121417151	121417151	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:121417151T>C	ENST00000340645.5	-	13	2329	c.2204A>G	c.(2203-2205)aAc>aGc	p.N735S	GOLGB1_ENST00000393667.3_Missense_Mutation_p.N740S	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	735					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.N735S(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCACTGCTGTTGTTGTCAGC	0.388																																							uc003eei.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(2)|skin(2)	10						c.(2203-2205)AAC>AGC		golgi autoantigen, golgin subfamily b,							132.0	124.0	127.0					3																	121417151		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417151T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2204A>G	3.37:g.121417151T>C	ENSP00000341848:p.Asn735Ser					GOLGB1_uc010hrc.2_Missense_Mutation_p.N740S|GOLGB1_uc003eej.3_Missense_Mutation_p.N701S|GOLGB1_uc011bjm.1_Missense_Mutation_p.N621S|GOLGB1_uc010hrd.1_Missense_Mutation_p.N699S	p.N735S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2330	-			735			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2204A>G	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.773|1.773	-0.483811|-0.483811	0.04383|0.04383	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.19806|.	2.7;2.7;2.12|.	5.72|5.72	0.13|0.13	0.14746|0.14746	.|.	0.540150|.	0.18203|.	N|.	0.148453|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|5	0.08837|.	T|.	0.75|.	.|.	8.119|8.119	0.30961|0.30961	0.0:0.3493:0.2697:0.381|0.0:0.3493:0.2697:0.381	.|.	660;699;740;740;735|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	S|A	735;740;699;547|606	ENSP00000341848:N735S;ENSP00000377275:N740S;ENSP00000418231:N699S|.	ENSP00000341848:N735S|.	N|T	-|-	2|1	0|0	GOLGB1|GOLGB1	122899841|122899841	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.269000|0.269000	0.26545|0.26545	0.455000|0.455000	0.21843|0.21843	0.295000|0.295000	0.22570|0.22570	-0.168000|-0.168000	0.13345|0.13345	AAC|ACA		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		12	38	0	0	0	0.010729	0	12	38				
SEMA5B	54437	broad.mit.edu	37	3	122630855	122630855	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:122630855G>C	ENST00000357599.3	-	20	3344	c.2958C>G	c.(2956-2958)agC>agG	p.S986R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S1040R|SEMA5B_ENST00000195173.4_Missense_Mutation_p.S984R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	986	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S986R(1)|p.S1040R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACAGTGCCGGCTTCGGCTCT	0.637																																							uc003efz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2956-2958)AGC>AGG		semaphorin 5B isoform 1							30.0	35.0	33.0					3																	122630855		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122630855G>C	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2958C>G	3.37:g.122630855G>C	ENSP00000350215:p.Ser986Arg					SEMA5B_uc011bju.1_Missense_Mutation_p.S892R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S986R|SEMA5B_uc003efy.1_5'UTR	p.S986R	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	20	3262	-			986			Extracellular (Potential).|TSP type-1 5.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2958C>G	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.14|16.14	3.039553|3.039553	0.55003|0.55003	.|.	.|.	ENSG00000082684|ENSG00000082684	ENST00000451541|ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	.|T;T;T;T	.|0.52057	.|0.68;0.68;0.68;0.68	4.89|4.89	3.09|3.09	0.35607|0.35607	.|.	.|0.187176	.|0.56097	.|D	.|0.000036	T|T	0.46580|0.46580	0.1400|0.1400	L|L	0.39467|0.39467	1.215|1.215	0.41541|0.41541	D|D	0.988512|0.988512	.|P;P	.|0.41188	.|0.696;0.741	.|B;P	.|0.50708	.|0.438;0.648	T|T	0.22243|0.22243	-1.0222|-1.0222	5|10	.|0.19147	.|T	.|0.46	.|.	10.6362|10.6362	0.45567|0.45567	0.1569:0.0:0.8431:0.0|0.1569:0.0:0.8431:0.0	.|.	.|892;986	.|D3YTI7;Q9P283	.|.;SEM5B_HUMAN	G|R	32|986;984;892;1040;986	.|ENSP00000350215:S986R;ENSP00000195173:S984R;ENSP00000389588:S1040R;ENSP00000377208:S986R	.|ENSP00000195173:S984R	A|S	-|-	2|3	0|2	SEMA5B|SEMA5B	124113545|124113545	0.999000|0.999000	0.42202|0.42202	0.808000|0.808000	0.32385|0.32385	0.825000|0.825000	0.46686|0.46686	0.930000|0.930000	0.28858|0.28858	0.658000|0.658000	0.30925|0.30925	0.561000|0.561000	0.74099|0.74099	GCC|AGC		0.637	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		13	26	0	0	0	0.001855	0	13	26				
KALRN	8997	broad.mit.edu	37	3	124103792	124103792	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124103792T>A	ENST00000240874.3	+	11	2022	c.1865T>A	c.(1864-1866)cTg>cAg	p.L622Q	KALRN_ENST00000460856.1_Missense_Mutation_p.L622Q|KALRN_ENST00000360013.3_Missense_Mutation_p.L622Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	622					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L622Q(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTCGACACCTGGAGGTGCGC	0.562																																							uc003ehg.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1864-1866)CTG>CAG		kalirin, RhoGEF kinase isoform 1							106.0	87.0	93.0					3																	124103792		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103792T>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1865T>A	3.37:g.124103792T>A	ENSP00000240874:p.Leu622Gln					KALRN_uc010hrv.1_Missense_Mutation_p.L622Q|KALRN_uc003ehf.1_Missense_Mutation_p.L622Q|KALRN_uc011bjy.1_Missense_Mutation_p.L622Q|KALRN_uc003ehh.1_5'UTR	p.L622Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			11	1992	+			622			Spectrin 3.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1865T>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.6|26.6	4.752184|4.752184	0.89753|0.89753	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170|ENST00000354186	T;T;T;T|.	0.64803|.	-0.12;-0.12;-0.12;-0.12|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.56097|.	D|.	0.000028|.	T|T	0.76521|0.76521	0.3999|0.3999	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.996|.	T|T	0.78690|0.78690	-0.2106|-0.2106	10|5	0.87932|.	D|.	0|.	.|.	14.8729|14.8729	0.70471|0.70471	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	622;622;622|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	Q|R	622;622;622;98|600	ENSP00000418611:L622Q;ENSP00000240874:L622Q;ENSP00000353109:L622Q;ENSP00000402950:L98Q|.	ENSP00000240874:L622Q|.	L|W	+|+	2|1	0|0	KALRN|KALRN	125586482|125586482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.821000|7.821000	0.86641|0.86641	2.088000|2.088000	0.63022|0.63022	0.460000|0.460000	0.39030|0.39030	CTG|TGG		0.562	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		21	46	0	0	0	0.008871	0	21	46				
KALRN	8997	broad.mit.edu	37	3	124398361	124398361	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124398361G>A	ENST00000462213.1	+	3	449	c.225G>A	c.(223-225)atG>atA	p.M75I	KALRN_ENST00000360013.3_Missense_Mutation_p.M2458I|KALRN_ENST00000291478.5_Missense_Mutation_p.M761I|KALRN_ENST00000428018.2_Missense_Mutation_p.M729I			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2457	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M761I(1)|p.M2458I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACTAGCATGGAGGTAGAAG	0.428																																							uc003ehg.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7372-7374)ATG>ATA		kalirin, RhoGEF kinase isoform 1							294.0	247.0	263.0					3																	124398361		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124398361G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.225G>A	3.37:g.124398361G>A	ENSP00000418790:p.Met75Ile					KALRN_uc003ehk.2_Missense_Mutation_p.M761I	p.M2458I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			51	7501	+			2457					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000462213.1	37	c.7374G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.83|18.83	3.708231|3.708231	0.68615|0.68615	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213|ENST00000354186	T;T;T;T|.	0.59083|.	0.29;0.31;0.29;0.56|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.55768|.	0.1941|.	N|N	0.22421|0.22421	0.69|0.69	0.46654|0.46654	D|D	0.99914|0.99914	P;P|.	0.45126|.	0.851;0.851|.	P;P|.	0.58391|.	0.838;0.838|.	T|.	0.49082|.	-0.8976|.	10|.	0.35671|.	T|.	0.21|.	.|.	19.0815|19.0815	0.93185|0.93185	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	761;2457|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	I|X	2458;761;729;75|2427	ENSP00000353109:M2458I;ENSP00000291478:M761I;ENSP00000402419:M729I;ENSP00000418790:M75I|.	ENSP00000291478:M761I|.	M|W	+|+	3|2	0|0	KALRN|KALRN	125881051|125881051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.789000|8.789000	0.91839|0.91839	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.428	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356377.1	NM_003947		13	58	0	0	0	0.013537	0	13	58				
KALRN	8997	broad.mit.edu	37	3	124431933	124431933	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:124431933C>T	ENST00000291478.5	+	25	3299	c.3136C>T	c.(3136-3138)Ctc>Ttc	p.L1046F	KALRN_ENST00000360013.3_Missense_Mutation_p.L2743F|KALRN_ENST00000428018.2_Missense_Mutation_p.L1014F	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2742					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L2743F(2)|p.L1046F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTACATCACTCTCCATGACAC	0.488																																							uc003ehg.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8227-8229)CTC>TTC		kalirin, RhoGEF kinase isoform 1							155.0	145.0	148.0					3																	124431933		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124431933C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3136C>T	3.37:g.124431933C>T	ENSP00000291478:p.Leu1046Phe					KALRN_uc003ehk.2_Missense_Mutation_p.L1046F	p.L2743F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			58	8354	+			2742			Protein kinase.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8227C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037461	0.75617	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.52754	0.65;0.65;0.65	4.32	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.092607	0.44688	D	0.000429	T	0.44808	0.1311	L	0.47190	1.495	0.31799	N	0.628597	P;P	0.46142	0.863;0.873	P;P	0.45377	0.478;0.469	T	0.58612	-0.7606	10	0.66056	D	0.02	.	10.5967	0.45343	0.3319:0.6681:0.0:0.0	.	1046;2742	C9JQ37;O60229	.;KALRN_HUMAN	F	2743;1046;1014	ENSP00000353109:L2743F;ENSP00000291478:L1046F;ENSP00000402419:L1014F	ENSP00000291478:L1046F	L	+	1	0	KALRN	125914623	0.973000	0.33851	1.000000	0.80357	0.995000	0.86356	2.436000	0.44819	2.401000	0.81631	0.558000	0.71614	CTC		0.488	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		9	29	0	0	0	0.004482	0	9	29				
OSBPL11	114885	broad.mit.edu	37	3	125286264	125286264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:125286264G>C	ENST00000296220.5	-	6	1131	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	281					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.S281*(2)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTTCTGATGTGATGCATGCTG	0.418																																							uc003eic.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|breast(1)|kidney(1)	5						c.(841-843)TCA>TGA		oxysterol binding protein-like 11							190.0	180.0	183.0					3																	125286264		2203	4300	6503	SO:0001587	stop_gained	114885				lipid transport		lipid binding	g.chr3:125286264G>C	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.842C>G	3.37:g.125286264G>C	ENSP00000296220:p.Ser281*						p.S281*	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			6	1579	-			281					A8K9I7	Nonsense_Mutation	SNP	ENST00000296220.5	37	c.842C>G	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	39	7.658745	0.98415	.	.	ENSG00000144909	ENST00000296220	.	.	.	4.68	4.68	0.58851	.	0.361408	0.26851	N	0.022166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-13.868	17.8139	0.88625	0.0:0.0:1.0:0.0	.	.	.	.	X	281	.	ENSP00000296220:S281X	S	-	2	0	OSBPL11	126768954	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.100000	0.94213	2.415000	0.81967	0.655000	0.94253	TCA		0.418	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		19	74	0	0	0	0.007413	0	19	74				
PLXNA1	5361	broad.mit.edu	37	3	126737303	126737303	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:126737303G>T	ENST00000393409.2	+	19	3827	c.3827G>T	c.(3826-3828)cGc>cTc	p.R1276L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1253L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1276					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GATGCTGACCGCACACTCAAG	0.632																																							uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3757-3759)CGC>CTC		plexin A1							66.0	56.0	60.0					3																	126737303		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126737303G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3827G>T	3.37:g.126737303G>T	ENSP00000377061:p.Arg1276Leu						p.R1253L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	19	3762	+			1276			Potential.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.3758G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489410	0.44249	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.14640	2.49;2.49	4.18	4.18	0.49190	.	0.082498	0.44285	D	0.000478	T	0.23210	0.0561	L	0.42245	1.32	0.80722	D	1	P	0.51653	0.947	P	0.56514	0.8	T	0.02365	-1.1170	10	0.20519	T	0.43	.	16.6728	0.85271	0.0:0.0:1.0:0.0	.	1276	Q9UIW2	PLXA1_HUMAN	L	1276;1253	ENSP00000377061:R1276L;ENSP00000251772:R1253L	ENSP00000251772:R1253L	R	+	2	0	PLXNA1	128219993	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.163000	0.64948	2.158000	0.67659	0.467000	0.42956	CGC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		9	40	1	0	0.000274275	0.004482	0.000292399	9	40				
PLXNA1	5361	broad.mit.edu	37	3	126746796	126746796	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:126746796A>G	ENST00000393409.2	+	23	4376	c.4376A>G	c.(4375-4377)gAg>gGg	p.E1459G	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1436G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1459					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGCTGGGGAGCCGCTGTTC	0.667																																							uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4306-4308)GAG>GGG		plexin A1							70.0	59.0	63.0					3																	126746796		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126746796A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4376A>G	3.37:g.126746796A>G	ENSP00000377061:p.Glu1459Gly					PLXNA1_uc003ejh.2_Missense_Mutation_p.E104G	p.E1436G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	23	4311	+			1459			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.4307A>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	a	15.72	2.917384	0.52546	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.19105	2.17;2.17	3.52	3.52	0.40303	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000003	T	0.49660	0.1570	M	0.86805	2.84	0.58432	D	0.999999	D;D	0.89917	0.987;1.0	D;D	0.91635	0.95;0.999	T	0.59456	-0.7451	10	0.87932	D	0	.	12.4963	0.55929	1.0:0.0:0.0:0.0	.	73;1459	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	G	1459;1436	ENSP00000377061:E1459G;ENSP00000251772:E1436G	ENSP00000251772:E1436G	E	+	2	0	PLXNA1	128229486	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	8.995000	0.93534	1.600000	0.50102	0.255000	0.18592	GAG		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	34	0	0	0	0.004482	0	6	34				
EEFSEC	60678	broad.mit.edu	37	3	128060645	128060645	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:128060645C>T	ENST00000254730.6	+	5	1410	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	EEFSEC_ENST00000483457.1_Silent_p.H397H	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	452					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.H452H(2)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCCTGCTCCACGGGCTAGAGG	0.612																																							uc003eki.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1354-1356)CAC>CAT		eukaryotic elongation factor,							66.0	62.0	63.0					3																	128060645		2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060645C>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1356C>T	3.37:g.128060645C>T						EEFSEC_uc003ekj.2_Silent_p.H397H	p.H452H	NM_021937	NP_068756	P57772	SELB_HUMAN			5	1394	+			452					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.1356C>T	CCDS33849.1																																																																																				0.612	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		25	43	0	0	0	0.00333	0	25	43				
PLXND1	23129	broad.mit.edu	37	3	129290609	129290610	+	Missense_Mutation	DNP	CT	CT	AC			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:129290609_129290610CT>AC	ENST00000324093.4	-	16	3333_3334	c.3155_3156AG>GT	c.(3154-3156)gAG>gGT	p.E1052G	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1052G	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1052	IPT/TIG 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.E1052G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCCCCGACGCTCGAAGCGCAC	0.663																																					Ovarian(97;366 1484 3738 22084 39045)	Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(3154-3156)GAG>GGT		plexin D1 precursor																																				SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290609_129290610CT>AC	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3155_3156delinsAC	3.37:g.129290609_129290610delinsAC	ENSP00000317128:p.Glu1052Gly						p.E1052G	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			16	3255_3256	-			1052			Extracellular (Potential).|IPT/TIG 2.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	DNP	ENST00000324093.4	37	c.3155_3156AG>GT	CCDS33854.1																																																																																				0.663	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		6	44	0	0	0	0.004672	0	6	44				
EPHB1	2047	broad.mit.edu	37	3	134670262	134670262	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:134670262A>G	ENST00000398015.3	+	3	543	c.173A>G	c.(172-174)tAc>tGc	p.Y58C	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	58	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Y58C(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCCGCACCTACCAGGTGTGC	0.527																																							uc003eqt.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(172-174)TAC>TGC		ephrin receptor EphB1 precursor							38.0	42.0	41.0					3																	134670262		2151	4273	6424	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670262A>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.173A>G	3.37:g.134670262A>G	ENSP00000381097:p.Tyr58Cys					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.Y58C	p.Y58C	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	393	+			58			Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.173A>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157906	0.78114	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000497173;ENST00000473867;ENST00000474732	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24	5.55	5.55	0.83447	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.44421	-0.9329	10	0.87932	D	0	.	15.6963	0.77502	1.0:0.0:0.0:0.0	.	58;58	B5A969;P54762	.;EPHB1_HUMAN	C	36;58;36;36;36	ENSP00000417435:Y36C;ENSP00000381097:Y58C;ENSP00000419688:Y36C;ENSP00000417216:Y36C;ENSP00000418352:Y36C	ENSP00000381097:Y58C	Y	+	2	0	EPHB1	136152952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.105000	0.64084	0.528000	0.53228	TAC		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		2	10	0	0	0	0.004672	0	2	10				
EPHB1	2047	broad.mit.edu	37	3	134851748	134851748	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:134851748G>T	ENST00000398015.3	+	5	1524	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.G385V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGGCAGCTGGGCCTGACGGAG	0.597																																							uc003eqt.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1153-1155)GGC>GTC		ephrin receptor EphB1 precursor							42.0	48.0	46.0					3																	134851748		2199	4295	6494	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851748G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1154G>T	3.37:g.134851748G>T	ENSP00000381097:p.Gly385Val					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.G385V	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1374	+			385			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1154G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033178	0.93575	.	.	ENSG00000154928	ENST00000398015	T	0.75938	-0.98	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.92077	3.27	0.80722	D	1	D	0.61697	0.99	D	0.63033	0.91	D	0.91453	0.5183	10	0.87932	D	0	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	385	P54762	EPHB1_HUMAN	V	385	ENSP00000381097:G385V	ENSP00000381097:G385V	G	+	2	0	EPHB1	136334438	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.869000	0.99810	2.590000	0.87494	0.655000	0.94253	GGC		0.597	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		3	39	1	0	0.004672	0.004672	0.004818	3	39				
PLS1	5357	broad.mit.edu	37	3	142388273	142388273	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:142388273G>T	ENST00000337777.3	+	3	325	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	PLS1_ENST00000497002.1_Missense_Mutation_p.D38Y|PLS1_ENST00000457734.2_Missense_Mutation_p.D38Y	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D38Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGAACTTCAAGACCTGTTTAA	0.368																																							uc010huv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(112-114)GAC>TAC		plastin 1							120.0	118.0	119.0					3																	142388273		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142388273G>T	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.112G>T	3.37:g.142388273G>T	ENSP00000336831:p.Asp38Tyr					PLS1_uc003euz.2_Missense_Mutation_p.D38Y|PLS1_uc003eva.2_Missense_Mutation_p.D38Y	p.D38Y	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			3	271	+			38			EF-hand 1.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.112G>T	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841373	0.91197	.	.	ENSG00000120756	ENST00000457734;ENST00000475296;ENST00000495744;ENST00000461644;ENST00000464320;ENST00000337777;ENST00000497199;ENST00000497002	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.12;-0.12;-0.52;-0.52;-0.12;-0.52	5.38	5.38	0.77491	EF-hand-like domain (1);	0.046316	0.85682	D	0.000000	T	0.80560	0.4646	L	0.55743	1.74	0.80722	D	1	D	0.59767	0.986	P	0.60541	0.876	T	0.81970	-0.0689	10	0.87932	D	0	-27.6458	19.4872	0.95033	0.0:0.0:1.0:0.0	.	38	Q14651	PLSI_HUMAN	Y	38	ENSP00000387890:D38Y;ENSP00000417311:D38Y;ENSP00000419531:D38Y;ENSP00000419271:D38Y;ENSP00000418880:D38Y;ENSP00000336831:D38Y;ENSP00000417491:D38Y;ENSP00000418700:D38Y	ENSP00000336831:D38Y	D	+	1	0	PLS1	143870963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.717000	0.98755	2.664000	0.90586	0.650000	0.86243	GAC		0.368	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		8	43	1	0	5.18039e-06	0.00308	5.81293e-06	8	43				
MED12L	116931	broad.mit.edu	37	3	150881826	150881826	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:150881826G>T	ENST00000474524.1	+	8	1292	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H	MED12L_ENST00000422248.2_Missense_Mutation_p.Q418H|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.Q418H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	418						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q418H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTCAATCAGCAGGTAGACT	0.512																																							uc003eyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1252-1254)CAG>CAT		mediator of RNA polymerase II transcription,							49.0	49.0	49.0					3																	150881826		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150881826G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1254G>T	3.37:g.150881826G>T	ENSP00000417235:p.Gln418His					MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Missense_Mutation_p.Q418H|MED12L_uc003eyo.2_Missense_Mutation_p.Q418H	p.Q418H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		8	1292	+			418					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1254G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624836	0.66901	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.34667	1.35;1.35;1.35	4.72	3.57	0.40892	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.78916	2.43	0.80722	D	1	D;D;D	0.67145	0.996;0.994;0.995	D;D;D	0.79108	0.992;0.991;0.989	T	0.62946	-0.6746	10	0.87932	D	0	-13.8432	11.3983	0.49856	0.1301:0.0:0.8699:0.0	.	418;418;418	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	H	418	ENSP00000403308:Q418H;ENSP00000310760:Q418H;ENSP00000417235:Q418H	ENSP00000310760:Q418H	Q	+	3	2	MED12L	152364516	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.392000	0.34486	2.317000	0.78254	0.655000	0.94253	CAG		0.512	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	110	1	0	0.00116845	0.001168	0.00122497	6	110				
MED12L	116931	broad.mit.edu	37	3	150906262	150906262	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:150906262C>T	ENST00000474524.1	+	12	1786	c.1748C>T	c.(1747-1749)tCt>tTt	p.S583F	MED12L_ENST00000422248.2_Missense_Mutation_p.S583F|MED12L_ENST00000273432.4_Missense_Mutation_p.S443F|MED12L_ENST00000309237.4_Missense_Mutation_p.S583F|RNA5SP145_ENST00000363124.1_RNA	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	583						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S583F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGCCCCCTCTTTGTGTAAG	0.333																																							uc003eyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1747-1749)TCT>TTT		mediator of RNA polymerase II transcription,							173.0	172.0	173.0					3																	150906262		2202	4300	6502	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150906262C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1748C>T	3.37:g.150906262C>T	ENSP00000417235:p.Ser583Phe					MED12L_uc011bnz.1_Missense_Mutation_p.S443F|MED12L_uc003eyn.2_Missense_Mutation_p.S583F|MED12L_uc003eyo.2_Missense_Mutation_p.S583F	p.S583F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		12	1786	+			583					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1748C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775689	0.70107	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.63	5.63	0.86233	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.292161	0.34580	N	0.003850	T	0.35913	0.0948	L	0.40543	1.245	0.33854	D	0.633037	P;P;P;P	0.50943	0.94;0.891;0.615;0.731	P;P;B;P	0.51266	0.503;0.664;0.307;0.502	T	0.50276	-0.8847	10	0.59425	D	0.04	-7.0415	12.6144	0.56567	0.0:0.9237:0.0:0.0763	.	443;583;583;583	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	F	583;583;583;443	ENSP00000403308:S583F;ENSP00000310760:S583F;ENSP00000417235:S583F;ENSP00000273432:S443F	ENSP00000273432:S443F	S	+	2	0	MED12L	152388952	0.657000	0.27393	0.738000	0.30950	0.973000	0.67179	2.664000	0.46783	2.653000	0.90120	0.650000	0.86243	TCT		0.333	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		13	93	0	0	0	0.004007	0	13	93				
PLCH1	23007	broad.mit.edu	37	3	155215184	155215184	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155215184T>A	ENST00000340059.7	-	14	1782	c.1783A>T	c.(1783-1785)Atg>Ttg	p.M595L	PLCH1_ENST00000494598.1_Missense_Mutation_p.M595L|PLCH1_ENST00000460012.1_Missense_Mutation_p.M577L|PLCH1_ENST00000447496.2_Missense_Mutation_p.M595L|PLCH1_ENST00000334686.6_Missense_Mutation_p.M577L|PLCH1_ENST00000414191.1_Missense_Mutation_p.M577L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	595					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.M595L(2)|p.M577L(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAGCTTCATGGTTTTCCTT	0.473																																							uc011bok.1		NA																	4	Substitution - Missense(4)		lung(4)	skin(3)|ovary(1)	4						c.(1783-1785)ATG>TTG		phospholipase C eta 1 isoform a							125.0	114.0	117.0					3																	155215184		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155215184T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1783A>T	3.37:g.155215184T>A	ENSP00000345988:p.Met595Leu					PLCH1_uc011boj.1_Missense_Mutation_p.M595L|PLCH1_uc011bol.1_Missense_Mutation_p.M577L	p.M595L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		14	2060	-			595					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1783A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686155	0.68157	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.202893	0.64402	D	0.000015	T	0.52549	0.1741	M	0.75777	2.31	0.47819	D	0.999528	B;B;B	0.31274	0.317;0.212;0.123	B;B;B	0.38194	0.267;0.137;0.037	T	0.55798	-0.8084	10	0.51188	T	0.08	.	10.7205	0.46038	0.0:0.0794:0.0:0.9206	.	577;595;595	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	595;577;595;595;577;577	ENSP00000419100:M595L;ENSP00000417502:M577L;ENSP00000402759:M595L;ENSP00000345988:M595L;ENSP00000335469:M577L;ENSP00000412977:M577L	ENSP00000335469:M577L	M	-	1	0	PLCH1	156697878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.517000	0.67061	2.191000	0.70037	0.533000	0.62120	ATG		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		16	53	0	0	0	0.004007	0	16	53				
SLC33A1	9197	broad.mit.edu	37	3	155571195	155571195	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155571195C>G	ENST00000392845.3	-	1	972	c.592G>C	c.(592-594)Gat>Cat	p.D198H	SLC33A1_ENST00000359479.3_Missense_Mutation_p.D198H|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	198					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.D198H(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCCCAACCATCGACGGCAATG	0.473																																							uc003fan.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(592-594)GAT>CAT		acetyl-coenzyme A transporter							75.0	80.0	78.0					3																	155571195		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571195C>G	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.592G>C	3.37:g.155571195C>G	ENSP00000376587:p.Asp198His					SLC33A1_uc003fao.1_Missense_Mutation_p.D198H	p.D198H	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	973	-			198			Cytoplasmic (Potential).		B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.592G>C	CCDS3173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.003984|5.003984	0.93287|0.93287	.|.	.|.	ENSG00000169359|ENSG00000169359	ENST00000392845;ENST00000359479|ENST00000475842	T;T|.	0.79940|.	-1.32;-1.32|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Major facilitator superfamily domain, general substrate transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87888|0.87888	0.6291|0.6291	H|H	0.95816|0.95816	3.725|3.725	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91247|0.91247	0.5026|0.5026	10|5	0.87932|.	D|.	0|.	-16.661|-16.661	19.3307|19.3307	0.94285|0.94285	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	198|.	O00400|.	ACATN_HUMAN|.	H|P	198|29	ENSP00000376587:D198H;ENSP00000352456:D198H|.	ENSP00000352456:D198H|.	D|R	-|-	1|2	0|0	SLC33A1|SLC33A1	157053889|157053889	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.951000|0.951000	0.60555|0.60555	7.668000|7.668000	0.83897|0.83897	2.625000|2.625000	0.88918|0.88918	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.473	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		11	44	0	0	0	0.008291	0	11	44				
GMPS	8833	broad.mit.edu	37	3	155615825	155615825	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:155615825A>G	ENST00000496455.2	+	3	654	c.319A>G	c.(319-321)Atg>Gtg	p.M107V	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	107	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.M107V(2)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	TTGCTATGGTATGCAGGTATG	0.363			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NA		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(319-321)ATG>GTG		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						250.0	233.0	238.0					3																	155615825		1856	4098	5954	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155615825A>G	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.319A>G	3.37:g.155615825A>G	ENSP00000419851:p.Met107Val					GMPS_uc011bom.1_Intron	p.M107V	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		3	654	+			107			Glutamine amidotransferase type-1.		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.319A>G	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308116	0.81247	.	.	ENSG00000163655	ENST00000496455;ENST00000537975;ENST00000541628	D	0.90844	-2.74	5.43	5.43	0.79202	Glutamine amidotransferase type 1 (2);Glutamine amidotransferase superfamily (1);GMP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	M	0.89534	3.04	0.80722	D	1	P	0.44816	0.844	B	0.43103	0.408	D	0.94162	0.7415	10	0.72032	D	0.01	-22.4043	15.4821	0.75537	1.0:0.0:0.0:0.0	.	107	P49915	GUAA_HUMAN	V	107;56;107	ENSP00000419851:M107V	ENSP00000419851:M107V	M	+	1	0	GMPS	157098519	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.734000	0.91543	2.050000	0.60909	0.533000	0.62120	ATG		0.363	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			23	99	0	0	0	0.00278	0	23	99				
SHOX2	6474	broad.mit.edu	37	3	157820536	157820536	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:157820536G>T	ENST00000425436.3	-	2	511	c.486C>A	c.(484-486)acC>acA	p.T162T	SHOX2_ENST00000441443.2_Silent_p.T33T|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Silent_p.T186T|SHOX2_ENST00000483851.2_Silent_p.T162T|SHOX2_ENST00000490689.2_Silent_p.T33T	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	162					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T33T(2)|p.T186T(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGGGATAGTGGGTCTCGTCAA	0.597																																							uc003fbr.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(484-486)ACC>ACA		short stature homeobox 2 isoform a							157.0	129.0	138.0					3																	157820536		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820536G>T	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.486C>A	3.37:g.157820536G>T						SHOX2_uc003fbs.2_Silent_p.T186T|SHOX2_uc010hvw.2_Silent_p.T162T	p.T162T	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	625	-			162			Homeobox.		O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.486C>A	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354494	0.24512	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.49	-0.925	0.10458	.	.	.	.	.	T	0.52125	0.1715	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44590	-0.9318	4	.	.	.	.	7.4177	0.27055	0.3213:0.106:0.5728:0.0	.	.	.	.	T	66	.	.	P	-	1	0	SHOX2	159303230	0.872000	0.30054	0.998000	0.56505	0.990000	0.78478	-0.078000	0.11375	0.033000	0.15463	0.655000	0.94253	CCA		0.597	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			84	75	1	0	2.13026e-44	0.01441	2.99723e-44	84	75				
PPM1L	151742	broad.mit.edu	37	3	160474243	160474243	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:160474243G>C	ENST00000498165.1	+	1	248	c.147G>C	c.(145-147)gtG>gtC	p.V49V	PPM1L_ENST00000497343.1_Silent_p.V49V|RP11-16N11.2_ENST00000566372.1_RNA	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	49					MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGACCATCGTGAAGTCCAGCC	0.562																																					Pancreas(86;250 1994 13715 43211)	Pancreas(86;250 1994 13715 43211)	uc003fdr.2		NA																	0				breast(1)	1						c.(145-147)GTG>GTC		protein phosphatase 1 (formerly 2C)-like							130.0	116.0	120.0					3																	160474243		2203	4300	6503	SO:0001819	synonymous_variant	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160474243G>C	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.147G>C	3.37:g.160474243G>C							p.V49V	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		1	248	+			49			Cytoplasmic (Potential).		Q2M3J2|Q96NM7	Silent	SNP	ENST00000498165.1	37	c.147G>C	CCDS33886.1																																																																																				0.562	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		19	111	0	0	0	0.006122	0	19	111				
LRRC31	79782	broad.mit.edu	37	3	169579498	169579498	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:169579498C>G	ENST00000316428.5	-	2	336	c.279G>C	c.(277-279)ttG>ttC	p.L93F	LRRC31_ENST00000264676.5_Missense_Mutation_p.L93F|LRRC31_ENST00000523069.1_Missense_Mutation_p.L93F|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	93								p.L93F(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACAGTTATTCAAATCTAGAC	0.428																																							uc003fgc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(277-279)TTG>TTC		leucine rich repeat containing 31							249.0	241.0	244.0					3																	169579498		1910	4121	6031	SO:0001583	missense	79782							g.chr3:169579498C>G	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.279G>C	3.37:g.169579498C>G	ENSP00000325978:p.Leu93Phe					LRRC31_uc010hwp.1_Missense_Mutation_p.L93F	p.L93F	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		2	356	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		93					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.279G>C	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024383	0.54683	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.72505	0.28;-0.66;0.28	5.07	3.25	0.37280	.	0.000000	0.64402	D	0.000004	D	0.83917	0.5358	M	0.89658	3.05	0.34524	D	0.708502	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.996	D	0.87247	0.2270	10	0.52906	T	0.07	-3.6235	7.8505	0.29451	0.0:0.7376:0.0:0.2624	.	93;93	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	F	93	ENSP00000325978:L93F;ENSP00000264676:L93F;ENSP00000429145:L93F	ENSP00000264676:L93F	L	-	3	2	LRRC31	171062192	0.994000	0.37717	0.173000	0.22940	0.031000	0.12232	0.455000	0.21843	1.141000	0.42275	0.563000	0.77884	TTG		0.428	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		35	296	0	0	0	0.003755	0	35	296				
PLD1	5337	broad.mit.edu	37	3	171395480	171395480	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:171395480G>A	ENST00000351298.4	-	17	1998	c.1872C>T	c.(1870-1872)acC>acT	p.T624T	PLD1_ENST00000356327.5_Silent_p.T586T|PLD1_ENST00000340989.4_Silent_p.T624T|PLD1_ENST00000342215.6_Missense_Mutation_p.P515L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	624	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.T624T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATGGACCCGGTATCTGTGA	0.488																																					NSCLC(149;2174 3517 34058)	NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(1870-1872)ACC>ACT		phospholipase D1 isoform a	Choline(DB00122)						101.0	98.0	99.0					3																	171395480		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171395480G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1872C>T	3.37:g.171395480G>A						PLD1_uc003fht.2_Silent_p.T586T|PLD1_uc003fhv.1_5'UTR	p.T624T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	1988	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		624			Catalytic.			Silent	SNP	ENST00000351298.4	37	c.1872C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904257	0.33628	.	.	ENSG00000075651	ENST00000342215	T	0.29397	1.57	6.05	-12.1	0.00011	.	.	.	.	.	T	0.12561	0.0305	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	T	0.08289	-1.0729	6	0.27082	T	0.32	-8.1912	2.0115	0.03489	0.4464:0.1155:0.1505:0.2875	.	.	.	.	L	515	ENSP00000339936:P515L	ENSP00000339936:P515L	P	-	2	0	PLD1	172878174	0.000000	0.05858	0.000000	0.03702	0.621000	0.37620	-4.413000	0.00238	-2.859000	0.00328	-0.145000	0.13849	CCG		0.488	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		7	65	0	0	0	0.001984	0	7	65				
NLGN1	22871	broad.mit.edu	37	3	173998896	173998896	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:173998896C>T	ENST00000457714.1	+	7	2704	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	NLGN1_ENST00000545397.1_Missense_Mutation_p.P759S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P799S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P759S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	776					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.P759S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GACCGCCTGTCCCCCAGATTA	0.458																																							uc003fio.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2275-2277)CCC>TCC		neuroligin 1							181.0	159.0	167.0					3																	173998896		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998896C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2275C>T	3.37:g.173998896C>T	ENSP00000392500:p.Pro759Ser					NLGN1_uc003fip.1_Missense_Mutation_p.P759S	p.P759S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2698	+	Ovarian(172;0.0025)		776			Cytoplasmic (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2275C>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095730	0.56075	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.44	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.55213	1.73	0.58432	D	0.999999	P	0.35272	0.493	B	0.38378	0.272	T	0.65759	-0.6090	10	0.40728	T	0.16	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	759	Q8N2Q7-2	.	S	759;759;759;799	ENSP00000392500:P759S;ENSP00000354541:P759S;ENSP00000441108:P759S;ENSP00000385750:P799S	ENSP00000354541:P759S	P	+	1	0	NLGN1	175481590	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.959000	0.70339	2.793000	0.96121	0.591000	0.81541	CCC		0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		27	34	0	0	0	0.005443	0	27	34				
TBL1XR1	79718	broad.mit.edu	37	3	176769466	176769466	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:176769466C>G	ENST00000430069.1	-	5	512	c.253G>C	c.(253-255)Gat>Cat	p.D85H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D85H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	85	F-box-like.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.D85H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATTACGGCATCTATCAGGGAC	0.443																																							uc003fiw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(253-255)GAT>CAT		transducin (beta)-like 1 X-linked receptor 1							57.0	50.0	52.0					3																	176769466		1883	4109	5992	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176769466C>G	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.253G>C	3.37:g.176769466C>G	ENSP00000405574:p.Asp85His					TBL1XR1_uc003fix.3_Missense_Mutation_p.D85H|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Missense_Mutation_p.D85H	p.D85H	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	513	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	85			F-box-like.		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.253G>C	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888642	0.91814	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000352800;ENST00000437738;ENST00000450267;ENST00000431674;ENST00000422066	T;T	0.55760	0.5;0.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	M	0.73753	2.245	0.80722	D	1	D	0.63880	0.993	P	0.61275	0.886	T	0.74034	-0.3794	10	0.66056	D	0.02	-14.1621	18.4353	0.90643	0.0:1.0:0.0:0.0	.	85	Q9BZK7	TBL1R_HUMAN	H	85	ENSP00000405574:D85H;ENSP00000413251:D85H	ENSP00000263964:D85H	D	-	1	0	TBL1XR1	178252160	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.609000	0.88269	0.557000	0.71058	GAT		0.443	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		8	50	0	0	0	0.00308	0	8	50				
EIF4G1	1981	broad.mit.edu	37	3	184039092	184039092	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184039092C>T	ENST00000346169.2	+	10	991	c.720C>T	c.(718-720)atC>atT	p.I240I	EIF4G1_ENST00000427845.1_Silent_p.I153I|EIF4G1_ENST00000342981.4_Silent_p.I240I|EIF4G1_ENST00000392537.2_Silent_p.I153I|EIF4G1_ENST00000434061.2_Silent_p.I44I|EIF4G1_ENST00000319274.6_Silent_p.I240I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Silent_p.I247I|EIF4G1_ENST00000414031.1_Silent_p.I200I|EIF4G1_ENST00000352767.3_Silent_p.I247I|EIF4G1_ENST00000435046.2_Silent_p.I44I|EIF4G1_ENST00000411531.1_Silent_p.I200I|EIF4G1_ENST00000441154.1_Silent_p.I76I|EIF4G1_ENST00000424196.1_Silent_p.I247I|EIF4G1_ENST00000350481.5_Silent_p.I76I	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	240					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.I240I(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGAGCAATCATTGCTGACC	0.572																																							uc003fnp.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(718-720)ATC>ATT		eukaryotic translation initiation factor 4							88.0	88.0	88.0					3																	184039092		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039092C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.720C>T	3.37:g.184039092C>T						EIF4G1_uc003fno.1_Silent_p.I181I|EIF4G1_uc010hxw.1_Silent_p.I76I|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Silent_p.I153I|EIF4G1_uc003fnr.2_Silent_p.I76I|EIF4G1_uc010hxx.2_Silent_p.I247I|EIF4G1_uc003fns.2_Silent_p.I200I|EIF4G1_uc010hxy.2_Silent_p.I247I|EIF4G1_uc003fnv.3_Silent_p.I240I|EIF4G1_uc003fnu.3_Silent_p.I240I|EIF4G1_uc003fnw.2_Silent_p.I247I|EIF4G1_uc003fnx.2_Silent_p.I44I|EIF4G1_uc003fny.3_Silent_p.I44I	p.I240I	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	918	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		240					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.720C>T	CCDS3259.1																																																																																				0.572	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		25	168	0	0	0	0.004656	0	25	168				
EIF4G1	1981	broad.mit.edu	37	3	184044714	184044714	+	Nonsense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184044714C>G	ENST00000346169.2	+	23	3642	c.3371C>G	c.(3370-3372)tCa>tGa	p.S1124*	EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.S1038*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.S1125*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.S1037*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.S929*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.S1124*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.S1131*|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.S1084*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.S928*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.S1085*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.S961*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.S1131*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.S960*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1124					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.S1124*(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCTTCTCAGCCCTTCAA	0.463																																							uc003fnp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3370-3372)TCA>TGA		eukaryotic translation initiation factor 4							142.0	142.0	142.0					3																	184044714		2203	4300	6503	SO:0001587	stop_gained	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184044714C>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3371C>G	3.37:g.184044714C>G	ENSP00000316879:p.Ser1124*					EIF4G1_uc003fnt.2_Nonsense_Mutation_p.S835*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.S1037*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.S960*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.S1131*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.S1084*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.S1131*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.S1125*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.S1124*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.S1131*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.S929*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.S928*|EIF4G1_uc003foa.2_5'Flank	p.S1124*	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		23	3569	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1124					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	ENST00000346169.2	37	c.3371C>G	CCDS3259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.474697|8.474697	0.98827|0.98827	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000448284|ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.228426	.|0.40222	.|N	.|0.001153	T|.	0.77545|.	0.4146|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79042|.	-0.1965|.	3|.	.|0.66056	.|D	.|0.02	-10.6661|-10.6661	18.0774|18.0774	0.89432|0.89432	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	178|1124;1084;1037;1131;960;1131;1038;1125;1124;1131;1085;961;929;928	.|.	.|ENSP00000323737:S1124X	Q|S	+|+	1|2	0|0	EIF4G1|EIF4G1	185527408|185527408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.899000|6.899000	0.75682|0.75682	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.463	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		9	184	0	0	0	0.006214	0	9	184				
CHRD	8646	broad.mit.edu	37	3	184102332	184102332	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184102332G>C	ENST00000204604.1	+	13	1694	c.1448G>C	c.(1447-1449)gGt>gCt	p.G483A	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.G443A|CHRD_ENST00000545352.1_Missense_Mutation_p.G113A|CHRD_ENST00000450923.1_Missense_Mutation_p.G483A	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	483	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.G196A(2)|p.G483A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCGTGGGTATCTGCCCT	0.607																																							uc003fov.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(2)|ovary(1)	3						c.(1447-1449)GGT>GCT		chordin precursor							101.0	111.0	108.0					3																	184102332		2203	4299	6502	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184102332G>C	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1448G>C	3.37:g.184102332G>C	ENSP00000204604:p.Gly483Ala					CHRD_uc003fow.2_Missense_Mutation_p.G113A|CHRD_uc003fox.2_Missense_Mutation_p.G483A|CHRD_uc003foy.2_Missense_Mutation_p.G113A|CHRD_uc010hyc.2_Missense_Mutation_p.G73A|CHRD_uc011brr.1_Missense_Mutation_p.G113A	p.G483A	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1694	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		483			CHRD 3.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1448G>C	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075828	0.76415	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.58358	0.34;0.34;2.32;0.34	5.51	5.51	0.81932	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.995;0.999;0.995	T	0.75193	-0.3404	10	0.87932	D	0	-11.6697	11.8156	0.52209	0.0809:0.0:0.9191:0.0	.	113;443;483;483	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	A	483;483;443;113;196	ENSP00000204604:G483A;ENSP00000408972:G483A;ENSP00000334036:G443A;ENSP00000442948:G113A	ENSP00000204604:G483A	G	+	2	0	CHRD	185585026	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	8.861000	0.92277	2.765000	0.95021	0.655000	0.94253	GGT		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		198	176	0	0	0	0.01441	0	198	176				
C3orf70	285382	broad.mit.edu	37	3	184801039	184801039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:184801039G>C	ENST00000335012.2	-	2	699	c.509C>G	c.(508-510)tCa>tGa	p.S170*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	170								p.S170*(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GCTCTCTTTTGAAATTAAGGC	0.463																																							uc003fpd.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(508-510)TCA>TGA		hypothetical protein LOC285382							105.0	102.0	103.0					3																	184801039		2203	4300	6503	SO:0001587	stop_gained	285382							g.chr3:184801039G>C		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.509C>G	3.37:g.184801039G>C	ENSP00000334974:p.Ser170*						p.S170*	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			2	700	-			170					B2RNY2|B9EH83	Nonsense_Mutation	SNP	ENST00000335012.2	37	c.509C>G	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080260	0.94050	.	.	ENSG00000187068	ENST00000335012	.	.	.	4.98	4.1	0.47936	.	0.821546	0.10962	N	0.614847	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	10.1882	0.43011	0.1628:0.0:0.8372:0.0	.	.	.	.	X	170	.	ENSP00000334974:S170X	S	-	2	0	C3orf70	186283733	0.996000	0.38824	0.977000	0.42913	0.994000	0.84299	5.162000	0.64942	1.103000	0.41568	0.563000	0.77884	TCA		0.463	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		24	60	0	0	0	0.003954	0	24	60				
RTP4	64108	broad.mit.edu	37	3	187088747	187088747	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:187088747T>C	ENST00000259030.2	+	2	437	c.327T>C	c.(325-327)gaT>gaC	p.D109D		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	109					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.D109D(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TCTCCTCGGATAGCACCATGA	0.507																																							uc003frm.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(325-327)GAT>GAC		28kD interferon responsive protein							65.0	62.0	63.0					3																	187088747		2203	4300	6503	SO:0001819	synonymous_variant	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187088747T>C	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.327T>C	3.37:g.187088747T>C							p.D109D	NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	389	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		109			Cytoplasmic (Potential).		Q9H4F3	Silent	SNP	ENST00000259030.2	37	c.327T>C	CCDS33910.1																																																																																				0.507	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		7	30	0	0	0	0.001984	0	7	30				
BCL6	604	broad.mit.edu	37	3	187447552	187447552	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:187447552C>A	ENST00000406870.2	-	5	1007	c.641G>T	c.(640-642)cGg>cTg	p.R214L	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R214L|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R214L	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	214					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCGGACATCCCGAAACTCCTC	0.622			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																		uc003frp.3		NA		Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(640-642)CGG>CTG		B-cell lymphoma 6 protein isoform 1							44.0	44.0	44.0					3																	187447552		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447552C>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.641G>T	3.37:g.187447552C>A	ENSP00000384371:p.Arg214Leu					BCL6_uc011bsf.1_Missense_Mutation_p.R214L|BCL6_uc010hza.2_Missense_Mutation_p.R112L|BCL6_uc003frq.1_Missense_Mutation_p.R214L	p.R214L	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1098	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		214					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.641G>T	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721263	0.48728	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08546	3.08;3.08;3.08	5.47	5.47	0.80525	.	0.152386	0.56097	D	0.000039	T	0.08626	0.0214	L	0.36672	1.1	0.37239	D	0.906032	B;P	0.38827	0.253;0.649	B;B	0.37550	0.066;0.253	T	0.08617	-1.0713	10	0.66056	D	0.02	.	12.1428	0.54007	0.0:0.9217:0.0:0.0783	.	214;214	B8PSA7;P41182	.;BCL6_HUMAN	L	214	ENSP00000384371:R214L;ENSP00000232014:R214L;ENSP00000413122:R214L	ENSP00000232014:R214L	R	-	2	0	BCL6	188930246	0.992000	0.36948	0.997000	0.53966	0.941000	0.58515	4.549000	0.60726	2.764000	0.94973	0.556000	0.70494	CGG		0.622	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		14	66	1	0	3.27435e-08	0.00245	3.89702e-08	14	66				
MB21D2	151963	broad.mit.edu	37	3	192516994	192516994	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:192516994G>A	ENST00000392452.2	-	2	977	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	219							protein complex binding (GO:0032403)	p.I217I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGATGGAGATGATGGTCCCAT	0.468																																							uc011bsp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(655-657)ATC>ATT		hypothetical protein LOC151963							165.0	151.0	155.0					3																	192516994		2203	4300	6503	SO:0001819	synonymous_variant	151963							g.chr3:192516994G>A	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.657C>T	3.37:g.192516994G>A							p.I219I	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	978	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		219					Q86VD8	Silent	SNP	ENST00000392452.2	37	c.657C>T	CCDS3302.2																																																																																				0.468	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		8	96	0	0	0	0.00308	0	8	96				
OPA1	4976	broad.mit.edu	37	3	193364866	193364866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:193364866A>G	ENST00000392438.3	+	17	1836	c.1602A>G	c.(1600-1602)ctA>ctG	p.L534L	OPA1_ENST00000361150.2_Silent_p.L535L|OPA1_ENST00000361908.3_Silent_p.L571L|OPA1_ENST00000361828.2_Silent_p.L552L|OPA1_ENST00000361510.2_Silent_p.L589L|OPA1_ENST00000361715.2_Silent_p.L553L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	534	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.L589L(2)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAAGCATGCTAAAGGCACACC	0.368																																							uc003ftm.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1600-1602)CTA>CTG		optic atrophy 1 isoform 1							75.0	75.0	75.0					3																	193364866		2203	4300	6503	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193364866A>G	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1602A>G	3.37:g.193364866A>G						OPA1_uc003ftg.2_Silent_p.L589L|OPA1_uc003fth.2_Silent_p.L553L|OPA1_uc003fti.2_Silent_p.L571L|OPA1_uc003ftj.2_Silent_p.L552L|OPA1_uc003ftk.2_Silent_p.L535L|OPA1_uc003ftl.2_Silent_p.L516L|OPA1_uc003ftn.2_Silent_p.L498L	p.L534L	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	17	1836	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		534			Mitochondrial intermembrane (By similarity).		D3DNW4	Silent	SNP	ENST00000392438.3	37	c.1602A>G	CCDS43186.1																																																																																				0.368	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		21	13	0	0	0	0.014323	0	21	13				
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	G	T	rs113394891	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:194080147G>T	ENST00000347624.3	-	2	1711	c.1626C>A	c.(1624-1626)gcC>gcA	p.A542A	LRRC15_ENST00000428839.1_Silent_p.A548A|LRRC15_ENST00000439944.2_Silent_p.A548A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	542					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.A542A(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTACAATGGCGGCAATGGCCA	0.597																																							uc003ftu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1624-1626)GCC>GCA		leucine rich repeat containing 15 isoform b							64.0	65.0	64.0					3																	194080147		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194080147G>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1626C>A	3.37:g.194080147G>T						LRRC15_uc003ftt.2_Silent_p.A548A	p.A542A	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1712	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		542			Helical; (Potential).		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.1626C>A	CCDS3306.1																																																																																				0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			105	72	1	0	3.01496e-42	0.01441	4.23787e-42	105	72				
PIGZ	80235	broad.mit.edu	37	3	196675122	196675122	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:196675122G>A	ENST00000412723.1	-	3	792	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	216					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.L216F(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATGCCTCCAAGAAGCCAGCTG	0.637																																							uc003fxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(646-648)CTT>TTT		phosphatidylinositol glycan anchor biosynthesis,							59.0	68.0	65.0					3																	196675122		2203	4299	6502	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196675122G>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.646C>T	3.37:g.196675122G>A	ENSP00000413405:p.Leu216Phe						p.L216F	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	793	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		216			Helical; (Potential).		Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.646C>T	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390052	0.61956	.	.	ENSG00000119227	ENST00000412723	T	0.64085	-0.08	5.13	4.19	0.49359	.	0.145674	0.31963	N	0.006798	T	0.74749	0.3757	M	0.82056	2.57	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.75428	-0.3321	10	0.51188	T	0.08	-17.7197	7.1217	0.25448	0.0:0.2015:0.5176:0.2809	.	216	Q86VD9	PIGZ_HUMAN	F	216	ENSP00000413405:L216F	ENSP00000413405:L216F	L	-	1	0	PIGZ	198159519	0.973000	0.33851	1.000000	0.80357	0.941000	0.58515	0.527000	0.22987	2.567000	0.86603	0.549000	0.68633	CTT		0.637	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		18	129	0	0	0	0.007413	0	18	129				
ZNF595	152687	broad.mit.edu	37	4	53308	53308	+	5'UTR	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:53308G>T	ENST00000509152.2	+	0	111				ZNF595_ENST00000526473.2_5'UTR|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CACAGCCTCTGCCTCCCGTTG	0.607																																							uc003fzt.3		NA																	0					0						c.e3+1		zinc finger protein 718							126.0	104.0	111.0					4																	53308		692	1591	2283	SO:0001623	5_prime_UTR_variant	255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:53308G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.-75G>T	4.37:g.53308G>T						ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_5'UTR|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR		NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	3	64	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Splice_Site	SNP	ENST00000509152.2	37	c.-69_splice																																																																																					0.607	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		10	127	1	0	1.58986e-06	0.008291	1.81627e-06	10	127				
SPON2	10417	broad.mit.edu	37	4	1165838	1165838	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:1165838C>T	ENST00000290902.5	-	2	354	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	SPON2_ENST00000431380.1_Missense_Mutation_p.A8T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	8					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CCCAGGGCGGCGGCCGGGCTG	0.726																																							uc003gcn.3		NA																	0				central_nervous_system(1)	1						c.(22-24)GCC>ACC		spondin 2, extracellular matrix protein							13.0	18.0	17.0					4																	1165838		2175	4248	6423	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165838C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.22G>A	4.37:g.1165838C>T	ENSP00000290902:p.Ala8Thr					SPON2_uc003gco.3_Missense_Mutation_p.A8T|SPON2_uc010ibr.2_Missense_Mutation_p.A8T|SPON2_uc003gcm.1_5'Flank	p.A8T	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	1	49	-			8					D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.22G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385260	0.42308	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765;ENST00000515004;ENST00000502483;ENST00000514490;ENST00000509233;ENST00000511679	T;T;T;T;T	0.30182	2.96;2.96;1.55;1.54;1.54	2.97	-5.93	0.02254	.	3.330570	0.00714	N	0.000855	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.13522	-1.0506	10	0.18276	T	0.48	.	1.7657	0.03001	0.5189:0.1679:0.1104:0.2028	.	8;8;8	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	T	8	ENSP00000290902:A8T;ENSP00000394832:A8T;ENSP00000424542:A8T;ENSP00000425871:A8T;ENSP00000422516:A8T	ENSP00000290902:A8T	A	-	1	0	SPON2	1155838	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-1.127000	0.03251	-2.052000	0.00902	-0.723000	0.03601	GCC		0.726	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			7	27	0	0	0	0.00308	0	7	27				
NOP14	8602	broad.mit.edu	37	4	2948195	2948195	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:2948195C>T	ENST00000314262.6	-	11	1627	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.E527K|NOP14_ENST00000416614.2_Missense_Mutation_p.E527K|NOP14_ENST00000502735.1_Missense_Mutation_p.E527K|NOP14-AS1_ENST00000505731.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	527					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCTTCCATCTCATGCATCGCA	0.473																																							uc003ggj.1		NA																	0				pancreas(1)	1						c.(1579-1581)GAG>AAG		probable nucleolar complex protein 14							121.0	115.0	117.0					4																	2948195		2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2948195C>T	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1579G>A	4.37:g.2948195C>T	ENSP00000315674:p.Glu527Lys					C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.E273K|NOP14_uc003ggk.3_Missense_Mutation_p.E527K|NOP14_uc003ggl.2_Missense_Mutation_p.E527K	p.E527K	NM_003703	NP_003694	P78316	NOP14_HUMAN			11	1651	-			527					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1579G>A	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281446	0.80692	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.48	5.48	0.80851	.	0.294964	0.40728	N	0.001032	T	0.41096	0.1144	M	0.66439	2.03	0.46798	D	0.999205	P;P;P	0.44521	0.503;0.801;0.837	B;B;B	0.43331	0.173;0.339;0.416	T	0.43015	-0.9417	10	0.87932	D	0	-22.9395	18.9346	0.92580	0.0:1.0:0.0:0.0	.	320;527;527	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	K	527;527;527;527;426	ENSP00000405068:E527K;ENSP00000315674:E527K;ENSP00000427415:E527K;ENSP00000381146:E527K	ENSP00000315674:E527K	E	-	1	0	NOP14	2917993	0.999000	0.42202	1.000000	0.80357	0.777000	0.43975	4.259000	0.58828	2.572000	0.86782	0.491000	0.48974	GAG		0.473	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		6	71	0	0	0	0.00308	0	6	71				
RGS12	6002	broad.mit.edu	37	4	3424297	3424297	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:3424297G>T	ENST00000344733.5	+	11	3937	c.3033G>T	c.(3031-3033)aaG>aaT	p.K1011N	RGS12_ENST00000338806.4_Splice_Site_p.K363N|RGS12_ENST00000382788.3_Splice_Site_p.K1011N|RGS12_ENST00000538395.1_Splice_Site_p.K353N|RGS12_ENST00000306648.7_Splice_Site_p.K409N|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Splice_Site_p.K1011N	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1011	RBD 1. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.K1011N(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGGGACAAGGTACTGGGCC	0.677																																							uc003ggw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3031-3033)AAG>AAT		regulator of G-protein signalling 12 isoform 1							26.0	29.0	28.0					4																	3424297		2200	4299	6499	SO:0001630	splice_region_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3424297G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3033+1G>T	4.37:g.3424297G>T						RGS12_uc003ggv.2_Missense_Mutation_p.K1011N|RGS12_uc003ggy.1_Missense_Mutation_p.K409N|RGS12_uc003ggz.2_Missense_Mutation_p.K363N|RGS12_uc010icu.1_Missense_Mutation_p.K210N|RGS12_uc011bvs.1_Missense_Mutation_p.K353N|RGS12_uc003gha.2_Missense_Mutation_p.K353N|RGS12_uc010icv.2_Missense_Mutation_p.K210N|RGS12_uc003ghb.2_Missense_Mutation_p.K210N	p.K1011N	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	3937	+			1011			RBD 1.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3033G>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166437	0.94768	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.46451	1.16;1.17;1.17;0.93;0.87;0.95	4.7	4.7	0.59300	Raf-like Ras-binding (3);	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	M	0.73962	2.25	0.80722	D	1	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	0.97110	0.999;0.997;0.999;1.0;0.996;0.999;1.0;1.0	T	0.70565	-0.4837	10	0.72032	D	0.01	-38.4056	16.6528	0.85221	0.0:0.0:1.0:0.0	.	353;210;210;353;363;409;1011;1011	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	N	1011;1011;1011;409;363;353	ENSP00000339381:K1011N;ENSP00000338509:K1011N;ENSP00000372238:K1011N;ENSP00000304459:K409N;ENSP00000342133:K363N;ENSP00000438888:K353N	ENSP00000304459:K409N	K	+	3	2	RGS12	3394095	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.477000	0.97925	2.165000	0.68154	0.655000	0.94253	AAG		0.677	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	Missense_Mutation	20	16	1	0	2.37509e-13	0.010504	3.0465e-13	20	16				
OTOP1	133060	broad.mit.edu	37	4	4199621	4199621	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:4199621C>A	ENST00000296358.4	-	5	964	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	314					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.G314C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACTGCGCCCACCATGACC	0.577																																							uc003ghp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(940-942)GGC>TGC		otopetrin 1							61.0	56.0	58.0					4																	4199621		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199621C>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.940G>T	4.37:g.4199621C>A	ENSP00000296358:p.Gly314Cys						p.G314C	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	970	-			314			Helical; (Potential).		A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.940G>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753174	0.49362	.	.	ENSG00000163982	ENST00000296358	T	0.63580	-0.05	4.8	4.8	0.61643	.	0.052646	0.85682	D	0.000000	T	0.81336	0.4801	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84745	0.0753	10	0.87932	D	0	.	18.2431	0.89974	0.0:1.0:0.0:0.0	.	314	Q7RTM1	OTOP1_HUMAN	C	314	ENSP00000296358:G314C	ENSP00000296358:G314C	G	-	1	0	OTOP1	4250522	1.000000	0.71417	0.556000	0.28293	0.017000	0.09413	7.308000	0.78929	2.387000	0.81309	0.404000	0.27445	GGC		0.577	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		26	36	1	0	3.28513e-13	0.003954	4.20265e-13	26	36				
TADA2B	93624	broad.mit.edu	37	4	7056721	7056721	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:7056721A>C	ENST00000310074.7	+	2	1392	c.1203A>C	c.(1201-1203)ctA>ctC	p.L401L	TADA2B_ENST00000512388.1_Silent_p.L326L|TADA2B_ENST00000515646.1_Silent_p.L309L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	401					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L401L(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACAAAGTCCTAAAGAAAAGGA	0.488																																							uc003gjw.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1201-1203)CTA>CTC		transcriptional adaptor 2 (ADA2 homolog,							33.0	34.0	34.0					4																	7056721		1850	4080	5930	SO:0001819	synonymous_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056721A>C	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1203A>C	4.37:g.7056721A>C						TADA2B_uc010idi.2_Silent_p.L326L	p.L401L	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			2	1354	+			401					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	c.1203A>C	CCDS47007.1																																																																																				0.488	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		11	32	0	0	0	0.008291	0	11	32				
ACOX3	8310	broad.mit.edu	37	4	8418229	8418229	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:8418229C>T	ENST00000356406.5	-	2	97	c.20G>A	c.(19-21)gGa>gAa	p.G7E	ACOX3_ENST00000413009.2_Missense_Mutation_p.G7E|ACOX3_ENST00000503233.1_Missense_Mutation_p.G7E	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	7					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.G7E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGTGTCGCCTCCTTCCACAGT	0.572																																							uc010idk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(19-21)GGA>GAA		acyl-Coenzyme A oxidase 3 isoform a							64.0	64.0	64.0					4																	8418229		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8418229C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.20G>A	4.37:g.8418229C>T	ENSP00000348775:p.Gly7Glu					ACOX3_uc003glc.3_Missense_Mutation_p.G7E|ACOX3_uc003gld.3_Missense_Mutation_p.G7E|ACOX3_uc003gle.1_5'Flank	p.G7E	NM_003501	NP_003492	O15254	ACOX3_HUMAN			2	165	-			7					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.20G>A	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	6.791	0.514932	0.12944	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.48201	0.82;0.82;0.82	3.63	-0.687	0.11320	.	0.804978	0.10661	N	0.648685	T	0.23451	0.0567	N	0.21448	0.665	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.09377	0.004;0.001	T	0.28618	-1.0038	10	0.02654	T	1	-1.1003	4.1622	0.10289	0.0:0.3553:0.3328:0.3119	.	7;7	O15254-2;O15254	.;ACOX3_HUMAN	E	7	ENSP00000413994:G7E;ENSP00000348775:G7E;ENSP00000421625:G7E	ENSP00000348775:G7E	G	-	2	0	ACOX3	8469129	0.007000	0.16637	0.000000	0.03702	0.010000	0.07245	0.912000	0.28597	-0.310000	0.08766	0.555000	0.69702	GGA		0.572	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			4	39	0	0	0	0.009096	0	4	39				
DRD5	1816	broad.mit.edu	37	4	9784051	9784051	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:9784051T>A	ENST00000304374.2	+	1	794	c.398T>A	c.(397-399)gTc>gAc	p.V133D		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	133					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)	p.V133D(2)		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)	AACCTGTGCGTCATCAGCGTG	0.627																																							uc003gmb.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(397-399)GTC>GAC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						46.0	43.0	44.0					4																	9784051		2203	4300	6503	SO:0001583	missense	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.chr4:9784051T>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.398T>A	4.37:g.9784051T>A	ENSP00000306129:p.Val133Asp						p.V133D	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	794	+			133			Helical; Name=3; (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.398T>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	t	19.88	3.909736	0.72983	.	.	ENSG00000169676	ENST00000304374	T	0.42900	0.96	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.286851	0.33290	N	0.005080	T	0.73946	0.3652	H	0.96861	3.895	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.83074	-0.0141	10	0.87932	D	0	.	12.8864	0.58047	0.0:0.0:0.0:1.0	.	133	P21918	DRD5_HUMAN	D	133	ENSP00000306129:V133D	ENSP00000306129:V133D	V	+	2	0	DRD5	9393149	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.504000	0.81646	1.824000	0.53156	0.254000	0.18369	GTC		0.627	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			16	28	0	0	0	0.004007	0	16	28				
KLB	152831	broad.mit.edu	37	4	39448475	39448475	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:39448475G>A	ENST00000257408.4	+	4	2226	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	710	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G710E(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCTACGGGGCGGCGCAC	0.657																																							uc003gua.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2128-2130)GGG>GAG		klotho beta							50.0	53.0	52.0					4																	39448475		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448475G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2129G>A	4.37:g.39448475G>A	ENSP00000257408:p.Gly710Glu					KLB_uc011byj.1_Missense_Mutation_p.G701E	p.G710E	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			4	2226	+			710			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2129G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.211593	0.01555	.	.	ENSG00000134962	ENST00000257408	T	0.28454	1.61	5.75	3.0	0.34707	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.475270	0.24037	N	0.042127	T	0.07999	0.0200	N	0.01048	-1.04	0.21184	N	0.999765	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39165	-0.9627	10	0.02654	T	1	-7.0465	8.2025	0.31432	0.315:0.0:0.685:0.0	.	701;710	B7ZL50;Q86Z14	.;KLOTB_HUMAN	E	710	ENSP00000257408:G710E	ENSP00000257408:G710E	G	+	2	0	KLB	39124870	0.001000	0.12720	0.492000	0.27490	0.533000	0.34776	-0.023000	0.12456	0.315000	0.23110	0.491000	0.48974	GGG		0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		19	47	0	0	0	0.008871	0	19	47				
N4BP2	55728	broad.mit.edu	37	4	40099000	40099000	+	Missense_Mutation	SNP	C	C	T	rs533904341		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:40099000C>T	ENST00000261435.6	+	3	456	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	14					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.R14W(2)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAATCCTTTTCGGAAGACTGC	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18803	0.0		0.0	False		,,,				2504	0.0						uc003guy.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(40-42)CGG>TGG		Nedd4 binding protein 2							117.0	114.0	115.0					4																	40099000		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40099000C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.40C>T	4.37:g.40099000C>T	ENSP00000261435:p.Arg14Trp					N4BP2_uc010ifq.2_5'UTR	p.R14W	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			3	378	+			14					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.40C>T	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969429	0.74246	.	.	ENSG00000078177	ENST00000261435	T	0.25085	1.82	5.2	4.27	0.50696	.	0.000000	0.38058	N	0.001828	T	0.29458	0.0734	N	0.08118	0	0.31809	N	0.627389	D	0.89917	1.0	D	0.79784	0.993	T	0.34153	-0.9840	10	0.87932	D	0	.	13.0469	0.58931	0.2838:0.7162:0.0:0.0	.	14	Q86UW6	N4BP2_HUMAN	W	14	ENSP00000261435:R14W	ENSP00000261435:R14W	R	+	1	2	N4BP2	39775395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.137000	0.50562	2.413000	0.81919	0.655000	0.94253	CGG		0.413	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		13	27	0	0	0	0.004007	0	13	27				
RBM47	54502	broad.mit.edu	37	4	40440598	40440598	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:40440598C>G	ENST00000381793.2	-	3	709	c.313G>C	c.(313-315)Gac>Cac	p.D105H	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.D105H|RBM47_ENST00000514014.1_Missense_Mutation_p.D67H|RBM47_ENST00000295971.7_Missense_Mutation_p.D105H|RBM47_ENST00000381795.6_Missense_Mutation_p.D105H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	105	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D105H(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGTCAAAGTCCATCATGAGG	0.632																																							uc003gvc.2		NA																	3	Substitution - Missense(3)		lung(3)	breast(3)	3						c.(313-315)GAC>CAC		RNA binding motif protein 47 isoform a							76.0	68.0	71.0					4																	40440598		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440598C>G	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.313G>C	4.37:g.40440598C>G	ENSP00000371212:p.Asp105His					RBM47_uc003gvd.2_Missense_Mutation_p.D105H|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.D67H|RBM47_uc003gvg.1_Missense_Mutation_p.D105H	p.D105H	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1023	-			105			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.313G>C	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176576	0.78564	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782;ENST00000507180;ENST00000511598	T;T;T;T;T;T;T;T;T;T;T	0.55760	2.77;0.5;2.77;0.5;0.5;2.77;0.5;0.5;0.5;0.5;0.5	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.87578	0.998;0.978	T	0.78620	-0.2133	10	0.87932	D	0	-42.4054	19.5736	0.95432	0.0:1.0:0.0:0.0	.	105;105	A0AV96-2;A0AV96	.;RBM47_HUMAN	H	105;105;105;105;67;105;105;105;105;105;105	ENSP00000320108:D105H;ENSP00000371212:D105H;ENSP00000371214:D105H;ENSP00000295971:D105H;ENSP00000423243:D67H;ENSP00000422564:D105H;ENSP00000421589:D105H;ENSP00000423527:D105H;ENSP00000426542:D105H;ENSP00000423398:D105H;ENSP00000424019:D105H	ENSP00000295971:D105H	D	-	1	0	RBM47	40135355	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.813000	0.86123	2.635000	0.89317	0.313000	0.20887	GAC		0.632	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		13	70	0	0	0	0.003163	0	13	70				
SLC30A9	10463	broad.mit.edu	37	4	42024921	42024921	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:42024921A>G	ENST00000264451.7	+	5	681	c.501A>G	c.(499-501)gtA>gtG	p.V167V		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	167					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V167V(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTTTACTGTATACTTGAGAT	0.323																																							uc003gwl.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(499-501)GTA>GTG		solute carrier family 30 (zinc transporter),							81.0	86.0	84.0					4																	42024921		2203	4299	6502	SO:0001819	synonymous_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42024921A>G	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.501A>G	4.37:g.42024921A>G						SLC30A9_uc011byx.1_5'UTR	p.V167V	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN			5	647	+			167					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	c.501A>G	CCDS3465.1																																																																																				0.323	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			4	21	0	0	0	0.000602	0	4	21				
LRRC66	339977	broad.mit.edu	37	4	52869406	52869406	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:52869406C>T	ENST00000343457.3	-	2	655	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	217						integral component of membrane (GO:0016021)		p.D217N(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTGAGGTCCTTGAAGGCT	0.343																																							uc003gzi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(649-651)GAC>AAC		leucine rich repeat containing 66							91.0	85.0	87.0					4																	52869406		1805	4069	5874	SO:0001583	missense	339977					integral to membrane		g.chr4:52869406C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.649G>A	4.37:g.52869406C>T	ENSP00000341944:p.Asp217Asn						p.D217N	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			2	662	-			217			LRR 5.			Missense_Mutation	SNP	ENST00000343457.3	37	c.649G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	7.718	0.696527	0.15106	.	.	ENSG00000188993	ENST00000343457	T	0.54479	0.57	5.55	3.49	0.39957	.	0.422934	0.20594	N	0.089300	T	0.38746	0.1052	N	0.11154	0.105	0.24562	N	0.993962	P	0.48350	0.909	P	0.51324	0.666	T	0.12502	-1.0545	10	0.28530	T	0.3	-9.8408	6.8722	0.24127	0.0:0.735:0.0:0.265	.	217	Q68CR7	LRC66_HUMAN	N	217	ENSP00000341944:D217N	ENSP00000341944:D217N	D	-	1	0	LRRC66	52564163	0.998000	0.40836	1.000000	0.80357	0.046000	0.14306	0.282000	0.18829	0.631000	0.30412	0.655000	0.94253	GAC		0.343	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		17	19	0	0	0	0.004007	0	17	19				
PPAT	5471	broad.mit.edu	37	4	57261580	57261580	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:57261580C>G	ENST00000264220.2	-	11	1629	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	498					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.E498Q(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	CCACTCTTTTCAAAACATTCC	0.358																																							uc003hbr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1492-1494)GAA>CAA		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						95.0	89.0	91.0					4																	57261580		2203	4295	6498	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57261580C>G		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1492G>C	4.37:g.57261580C>G	ENSP00000264220:p.Glu498Gln						p.E498Q	NM_002703	NP_002694	Q06203	PUR1_HUMAN			11	1694	-	Glioma(25;0.08)|all_neural(26;0.101)		498						Missense_Mutation	SNP	ENST00000264220.2	37	c.1492G>C	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620574	0.14193	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.28	3.37	0.38596	.	0.643446	0.16027	N	0.233033	T	0.38506	0.1043	L	0.41492	1.28	0.27795	N	0.942673	B	0.02656	0.0	B	0.04013	0.001	T	0.21280	-1.0250	9	0.23302	T	0.38	-16.1494	13.7646	0.62988	0.0:0.7073:0.2927:0.0	.	498	Q06203	PUR1_HUMAN	Q	498	.	ENSP00000264220:E498Q	E	-	1	0	PPAT	56956337	0.387000	0.25188	0.866000	0.34008	0.130000	0.20726	1.422000	0.34826	1.316000	0.45131	0.650000	0.86243	GAA		0.358	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		3	12	0	0	0	0.004672	0	3	12				
EPHA5	2044	broad.mit.edu	37	4	66467425	66467425	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:66467425A>G	ENST00000273854.3	-	3	1444	c.844T>C	c.(844-846)Tgg>Cgg	p.W282R	EPHA5_ENST00000511294.1_Missense_Mutation_p.W282R|EPHA5_ENST00000354839.4_Missense_Mutation_p.W282R|EPHA5_ENST00000432638.2_Missense_Mutation_p.W282R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	282	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.W282R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCACCAGCCACTCCCCTTCG	0.532										TSP Lung(17;0.13)																													uc003hcy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(844-846)TGG>CGG		ephrin receptor EphA5 isoform a precursor							76.0	79.0	78.0					4																	66467425		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467425A>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.844T>C	4.37:g.66467425A>G	ENSP00000273854:p.Trp282Arg	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.W213R|EPHA5_uc003hcz.2_Missense_Mutation_p.W282R|EPHA5_uc011cah.1_Missense_Mutation_p.W282R|EPHA5_uc011cai.1_Missense_Mutation_p.W282R|EPHA5_uc003hda.2_Missense_Mutation_p.W282R	p.W282R	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	1037	-			282			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.844T>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131393	0.77549	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;D;T;T	0.83837	1.64;-1.77;1.64;-1.3	5.93	5.93	0.95920	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.64402	D	0.000020	D	0.93239	0.7846	M	0.92923	3.36	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.94653	0.7841	10	0.87932	D	0	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	282;282;282;282	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	R	282	ENSP00000273854:W282R;ENSP00000389208:W282R;ENSP00000346899:W282R;ENSP00000427638:W282R	ENSP00000273854:W282R	W	-	1	0	EPHA5	66150020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.271000	0.75665	0.533000	0.62120	TGG		0.532	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		13	20	0	0	0	0.00245	0	13	20				
UGT2B11	10720	broad.mit.edu	37	4	70070363	70070363	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:70070363A>G	ENST00000446444.1	-	5	1103	c.1095T>C	c.(1093-1095)caT>caC	p.H365H	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	365					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H365H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGTTTTTGGATGACCTAGGA	0.378																																							uc003heh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1093-1095)CAT>CAC		UDP glucuronosyltransferase 2 family,							37.0	40.0	39.0					4																	70070363		2109	4125	6234	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070363A>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1095T>C	4.37:g.70070363A>G						uc003hei.1_Intron	p.H365H	NM_001073	NP_001064	O75310	UDB11_HUMAN			5	1104	-			365					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.1095T>C	CCDS3527.1																																																																																				0.378	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		7	31	0	0	0	0.001984	0	7	31				
ANKRD17	26057	broad.mit.edu	37	4	73962875	73962875	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:73962875A>C	ENST00000358602.4	-	27	5252	c.5136T>G	c.(5134-5136)cgT>cgG	p.R1712R	ANKRD17_ENST00000509867.2_Silent_p.R1599R|ANKRD17_ENST00000330838.6_Silent_p.R1461R	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1712					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1712R(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTTTGCCCACGCTTAGGAC	0.388																																							uc003hgp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(5134-5136)CGT>CGG		ankyrin repeat domain protein 17 isoform a							261.0	262.0	261.0					4																	73962875		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73962875A>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5136T>G	4.37:g.73962875A>C						ANKRD17_uc003hgo.2_Silent_p.R1599R|ANKRD17_uc003hgq.2_Silent_p.R1461R|ANKRD17_uc003hgr.2_Silent_p.R1711R	p.R1712R	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		27	5253	-	Breast(15;0.000295)		1712					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.5136T>G	CCDS34004.1																																																																																				0.388	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		50	66	0	0	0	0.01441	0	50	66				
HELQ	113510	broad.mit.edu	37	4	84339310	84339310	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:84339310T>C	ENST00000295488.3	-	16	3161	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	HELQ_ENST00000510985.1_Missense_Mutation_p.K933R	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1000					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.K1000R(2)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTCAGCTTCTTGGTAAGTTC	0.348								Other identified genes with known or suspected DNA repair function																															uc003hom.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(2998-3000)AAG>AGG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							151.0	162.0	158.0					4																	84339310		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84339310T>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2999A>G	4.37:g.84339310T>C	ENSP00000295488:p.Lys1000Arg					HELQ_uc010ikb.2_Missense_Mutation_p.K933R|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.K1000R	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			16	3178	-			1000					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2999A>G	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	8.348	0.830170	0.16749	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.76316	-1.01;-1.01	4.67	3.46	0.39613	.	0.061421	0.64402	D	0.000005	T	0.60586	0.2280	N	0.21097	0.63	0.40785	D	0.983207	B;B	0.32071	0.355;0.052	B;B	0.24974	0.057;0.042	T	0.54423	-0.8296	10	0.23891	T	0.37	-46.9447	11.347	0.49567	0.0:0.0:0.1526:0.8474	.	933;1000	E3W980;Q8TDG4	.;HELQ_HUMAN	R	1000;933	ENSP00000295488:K1000R;ENSP00000424539:K933R	ENSP00000295488:K1000R	K	-	2	0	HELQ	84558334	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.869000	0.56062	0.640000	0.30582	-0.661000	0.03856	AAG		0.348	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		47	55	0	0	0	0.01441	0	47	55				
CENPE	1062	broad.mit.edu	37	4	104067129	104067129	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:104067129G>C	ENST00000265148.3	-	30	4359	c.4270C>G	c.(4270-4272)Ctc>Gtc	p.L1424V	CENPE_ENST00000380026.3_Missense_Mutation_p.L1399V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1424					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L1424V(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GACAATCCGAGCATTTCTATT	0.363																																							uc003hxb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(4270-4272)CTC>GTC		centromere protein E							152.0	144.0	147.0					4																	104067129		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104067129G>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4270C>G	4.37:g.104067129G>C	ENSP00000265148:p.Leu1424Val					CENPE_uc003hxc.1_Missense_Mutation_p.L1399V	p.L1424V	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	30	4360	-			1424			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.4270C>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	6.929	0.541209	0.13250	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72615	-0.67;-0.67	5.14	4.29	0.51040	.	.	.	.	.	T	0.70988	0.3287	L	0.39898	1.24	0.09310	N	1	P;D	0.60575	0.705;0.988	B;P	0.54759	0.178;0.76	T	0.60271	-0.7296	9	0.45353	T	0.12	.	9.8023	0.40773	0.0:0.1518:0.6909:0.1573	.	1399;1424	Q02224-3;Q02224	.;CENPE_HUMAN	V	1424;1424;1399	ENSP00000265148:L1424V;ENSP00000369365:L1399V	ENSP00000265148:L1424V	L	-	1	0	CENPE	104286578	0.002000	0.14202	0.392000	0.26245	0.062000	0.15995	0.755000	0.26405	1.126000	0.42016	0.643000	0.83706	CTC		0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	46	0	0	0	0.001168	0	6	46				
PAPSS1	9061	broad.mit.edu	37	4	108576016	108576016	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:108576016C>A	ENST00000265174.4	-	8	1208	c.936G>T	c.(934-936)gcG>gcT	p.A312A	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.A312A(2)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CTTCATGAGTCGCAGTCAGAA	0.458																																							uc003hyk.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(934-936)GCG>GCT		3'-phosphoadenosine 5'-phosphosulfate synthase							93.0	95.0	94.0					4																	108576016		2203	4300	6503	SO:0001819	synonymous_variant	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108576016C>A	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.936G>T	4.37:g.108576016C>A						PAPSS1_uc011cfh.1_RNA	p.A312A	NM_005443	NP_005434	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	8	1020	-		Hepatocellular(203;0.217)	312			Adenylyl-sulfate kinase.		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Silent	SNP	ENST00000265174.4	37	c.936G>T	CCDS3676.1																																																																																				0.458	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			29	38	1	0	4.59853e-10	0.005443	5.62042e-10	29	38				
NEUROG2	63973	broad.mit.edu	37	4	113436310	113436310	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:113436310G>T	ENST00000313341.3	-	2	648	c.322C>A	c.(322-324)Cgc>Agc	p.R108S	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	108					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)	p.R108S(2)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TTCTTGATGCGCTGCACCGTC	0.687																																							uc003ias.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(322-324)CGC>AGC		neurogenin 2							37.0	36.0	36.0					4																	113436310		2203	4300	6503	SO:0001583	missense	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436310G>T	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.322C>A	4.37:g.113436310G>T	ENSP00000317333:p.Arg108Ser						p.R108S	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	649	-		Ovarian(17;0.156)	108					Q8N416	Missense_Mutation	SNP	ENST00000313341.3	37	c.322C>A	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586989	0.28268	.	.	ENSG00000178403	ENST00000313341	D	0.91792	-2.91	3.55	2.64	0.31445	.	0.155641	0.24422	U	0.038668	D	0.85217	0.5646	N	0.24115	0.695	0.39590	D	0.969574	B	0.29671	0.254	B	0.35278	0.199	T	0.82575	-0.0389	10	0.39692	T	0.17	-12.3475	8.4221	0.32707	0.0:0.0:0.6092:0.3908	.	108	Q9H2A3	NGN2_HUMAN	S	108	ENSP00000317333:R108S	ENSP00000317333:R108S	R	-	1	0	NEUROG2	113655759	0.256000	0.24012	1.000000	0.80357	0.715000	0.41141	0.328000	0.19681	1.820000	0.53075	0.467000	0.42956	CGC		0.687	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		23	36	1	0	1.10513e-12	0.014323	1.40636e-12	23	36				
NDST4	64579	broad.mit.edu	37	4	115750957	115750957	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:115750957T>C	ENST00000264363.2	-	13	3166	c.2488A>G	c.(2488-2490)Atg>Gtg	p.M830V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	830	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.M830V(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTGGATCCATAGGTGGATAT	0.343																																							uc003ibu.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2488-2490)ATG>GTG		heparan sulfate N-deacetylase/N-sulfotransferase							90.0	90.0	90.0					4																	115750957		2203	4299	6502	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115750957T>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2488A>G	4.37:g.115750957T>C	ENSP00000264363:p.Met830Val					NDST4_uc010imw.2_RNA	p.M830V	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	13	3167	-		Ovarian(17;0.156)	830			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2488A>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128045	0.77549	.	.	ENSG00000138653	ENST00000264363	D	0.84070	-1.8	5.59	5.59	0.84812	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	L	0.47016	1.485	0.58432	D	0.999998	D	0.58620	0.983	D	0.64877	0.93	D	0.87278	0.2290	10	0.45353	T	0.12	.	16.0568	0.80812	0.0:0.0:0.0:1.0	.	830	Q9H3R1	NDST4_HUMAN	V	830	ENSP00000264363:M830V	ENSP00000264363:M830V	M	-	1	0	NDST4	115970406	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.556000	0.82233	2.245000	0.73994	0.519000	0.50382	ATG		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		8	8	0	0	0	0.00308	0	8	8				
NDST4	64579	broad.mit.edu	37	4	115769466	115769466	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:115769466A>T	ENST00000264363.2	-	9	2523	c.1845T>A	c.(1843-1845)ctT>ctA	p.L615L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	615	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.L615L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGGATGCATAAGAAGAAATA	0.318																																							uc003ibu.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(1843-1845)CTT>CTA		heparan sulfate N-deacetylase/N-sulfotransferase							100.0	100.0	100.0					4																	115769466		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115769466A>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1845T>A	4.37:g.115769466A>T						NDST4_uc010imw.2_RNA	p.L615L	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	9	2524	-		Ovarian(17;0.156)	615			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1845T>A	CCDS3706.1																																																																																				0.318	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		8	14	0	0	0	0.00308	0	8	14				
PRDM5	11107	broad.mit.edu	37	4	121738051	121738051	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:121738051G>C	ENST00000264808.3	-	6	919	c.679C>G	c.(679-681)Cta>Gta	p.L227V	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	227					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L227V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GACTCCTTTAGACTGCTTTTC	0.368																																							uc003idn.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(679-681)CTA>GTA		PR domain containing 5							151.0	156.0	154.0					4																	121738051		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121738051G>C	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.679C>G	4.37:g.121738051G>C	ENSP00000264808:p.Leu227Val					PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	p.L227V	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			6	929	-			227					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.679C>G	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781977	0.31502	.	.	ENSG00000138738	ENST00000264808	T	0.09630	2.96	5.85	3.2	0.36748	Zinc finger, C2H2 (1);	0.330383	0.32301	N	0.006290	T	0.07818	0.0196	N	0.20986	0.625	0.19300	N	0.999971	B	0.19817	0.039	B	0.21917	0.037	T	0.29366	-1.0014	10	0.42905	T	0.14	-0.6978	9.6537	0.39912	0.2685:0.0:0.7315:0.0	.	227	Q9NQX1	PRDM5_HUMAN	V	227	ENSP00000264808:L227V	ENSP00000264808:L227V	L	-	1	2	PRDM5	121957501	0.998000	0.40836	0.942000	0.38095	0.986000	0.74619	2.832000	0.48152	0.377000	0.24735	0.655000	0.94253	CTA		0.368	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			15	56	0	0	0	0.004007	0	15	56				
TNIP3	79931	broad.mit.edu	37	4	122063033	122063033	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:122063033G>T	ENST00000509841.1	-	12	1132	c.1054C>A	c.(1054-1056)Cac>Aac	p.H352N	TNIP3_ENST00000057513.3_Missense_Mutation_p.H275N|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Missense_Mutation_p.H345N|TNIP3_ENST00000454328.1_Missense_Mutation_p.H275N	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.H275N(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCTTGCAGGTGGAAAACCAAG	0.502																																							uc010ing.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(823-825)CAC>AAC		TNFAIP3 interacting protein 3							83.0	78.0	80.0					4																	122063033		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122063033G>T	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.1054C>A	4.37:g.122063033G>T	ENSP00000426613:p.His352Asn					TNIP3_uc010inh.2_Missense_Mutation_p.H275N|TNIP3_uc011cgj.1_Missense_Mutation_p.H333N	p.H275N	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			9	1019	-			275						Missense_Mutation	SNP	ENST00000509841.1	37	c.823C>A	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512268	0.44660	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841;ENST00000515036	T;T;T;T	0.47869	0.83;0.83;0.84;0.83	4.77	2.49	0.30216	.	0.962366	0.08610	N	0.920167	T	0.57858	0.2082	L	0.50333	1.59	0.09310	N	1	P;D	0.69078	0.557;0.997	B;D	0.63793	0.368;0.918	T	0.40979	-0.9534	10	0.39692	T	0.17	0.143	7.9738	0.30143	0.2384:0.0:0.7616:0.0	.	345;275	B4DVF5;Q96KP6	.;TNIP3_HUMAN	N	275;275;345;352;8	ENSP00000057513:H275N;ENSP00000411817:H275N;ENSP00000427106:H345N;ENSP00000426613:H352N	ENSP00000057513:H275N	H	-	1	0	TNIP3	122282483	0.182000	0.23173	0.001000	0.08648	0.010000	0.07245	1.306000	0.33505	0.411000	0.25702	0.655000	0.94253	CAC		0.502	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		10	16	1	0	2.80697e-09	0.010729	3.40495e-09	10	16				
SLC25A31	83447	broad.mit.edu	37	4	128651782	128651782	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:128651782G>A	ENST00000281154.4	+	1	250	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	28					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.G28R(2)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCTGGCCGGCGGAGTCGCGGC	0.602																																							uc003ifl.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(82-84)GGA>AGA		solute carrier family 25 (mitochondrial carrier;							53.0	51.0	52.0					4																	128651782		2203	4300	6503	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128651782G>A	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.82G>A	4.37:g.128651782G>A	ENSP00000281154:p.Gly28Arg						p.G28R	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			1	228	+			28			Solcar 1.|Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000281154.4	37	c.82G>A	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552054	0.45487	.	.	ENSG00000151475	ENST00000281154	T	0.81247	-1.47	4.96	4.11	0.48088	Mitochondrial carrier domain (2);	0.000000	0.47093	D	0.000249	D	0.93507	0.7928	H	0.98918	4.37	0.47949	D	0.999554	D	0.89917	1.0	D	0.85130	0.997	D	0.95101	0.8230	10	0.87932	D	0	-12.3599	12.6426	0.56718	0.0:0.1666:0.8334:0.0	.	28	Q9H0C2	ADT4_HUMAN	R	28	ENSP00000281154:G28R	ENSP00000281154:G28R	G	+	1	0	SLC25A31	128871232	1.000000	0.71417	0.085000	0.20634	0.001000	0.01503	5.902000	0.69869	1.297000	0.44761	-0.176000	0.13171	GGA		0.602	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		40	37	0	0	0	0.009718	0	40	37				
MFSD8	256471	broad.mit.edu	37	4	128843023	128843023	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:128843023T>A	ENST00000296468.3	-	11	1221	c.1094A>T	c.(1093-1095)cAg>cTg	p.Q365L	MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320L|MFSD8_ENST00000515130.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.Q365L(2)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACCTTCCCACTGTATTTTGGG	0.368																																							uc003ifp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(1093-1095)CAG>CTG		major facilitator superfamily domain containing							67.0	69.0	68.0					4																	128843023		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128843023T>A	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1094A>T	4.37:g.128843023T>A	ENSP00000296468:p.Gln365Leu					MFSD8_uc011cgu.1_Missense_Mutation_p.Q320L|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_RNA	p.Q365L	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			11	1257	-			365			Extracellular (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.1094A>T	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141991	0.77775	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	D;D	0.85484	-1.99;-1.9	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059551	0.64402	D	0.000002	D	0.88028	0.6327	M	0.68952	2.095	0.80722	D	1	P	0.49253	0.921	P	0.52957	0.714	D	0.86178	0.1604	10	0.25751	T	0.34	-6.1231	15.1685	0.72850	0.0:0.0:0.0:1.0	.	365	Q8NHS3	MFSD8_HUMAN	L	365;320	ENSP00000296468:Q365L;ENSP00000425000:Q320L	ENSP00000296468:Q365L	Q	-	2	0	MFSD8	129062473	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.012000	0.64017	2.170000	0.68504	0.459000	0.35465	CAG		0.368	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		8	13	0	0	0	0.004482	0	8	13				
PCDH10	57575	broad.mit.edu	37	4	134072994	134072994	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:134072994C>G	ENST00000264360.5	+	1	2525	c.1699C>G	c.(1699-1701)Caa>Gaa	p.Q567E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	567	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q567E(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CATAGTGGATCAAAATGACAA	0.637																																							uc003iha.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1699-1701)CAA>GAA		protocadherin 10 isoform 1 precursor							37.0	42.0	40.0					4																	134072994		2135	4184	6319	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072994C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1699C>G	4.37:g.134072994C>G	ENSP00000264360:p.Gln567Glu					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.Q567E	p.Q567E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2525	+			567			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1699C>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126669	0.56721	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.60548	0.18	4.3	4.3	0.51218	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.41001	D	0.000964	T	0.67543	0.2904	L	0.39514	1.22	0.58432	D	0.999992	D;P	0.56287	0.975;0.947	D;P	0.67103	0.949;0.677	T	0.70510	-0.4852	10	0.56958	D	0.05	.	16.5626	0.84570	0.0:1.0:0.0:0.0	.	567;567	Q9P2E7;Q96SF0	PCD10_HUMAN;.	E	567	ENSP00000264360:Q567E	ENSP00000264360:Q567E	Q	+	1	0	PCDH10	134292444	1.000000	0.71417	0.996000	0.52242	0.563000	0.35712	4.712000	0.61888	2.217000	0.71921	0.655000	0.94253	CAA		0.637	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		46	66	0	0	0	0.010771	0	46	66				
SCOC	60592	broad.mit.edu	37	4	141302217	141302217	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:141302217A>G	ENST00000608372.1	+	4	466	c.439A>G	c.(439-441)Agt>Ggt	p.S147G	SCOC_ENST00000394203.3_Missense_Mutation_p.S110G|SCOC_ENST00000394205.3_Missense_Mutation_p.S110G|SCOC_ENST00000394201.4_Missense_Mutation_p.S70G|SCOC_ENST00000338517.4_Missense_Mutation_p.S110G|SCOC_ENST00000510586.1_Missense_Mutation_p.S70G|SCOC_ENST00000506597.1_Missense_Mutation_p.S119G|SCOC_ENST00000512749.1_Missense_Mutation_p.S70G|SCOC_ENST00000506322.1_Missense_Mutation_p.S70G|SCOC_ENST00000502535.1_Missense_Mutation_p.S70G			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	147					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.S147G(2)|p.S110G(2)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GTCAGCTTCTAGTGTTTTTCA	0.338																																							uc003iif.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(439-441)AGT>GGT		short coiled-coil protein isoform 1							43.0	45.0	44.0					4																	141302217		2202	4294	6496	SO:0001583	missense	60592					Golgi apparatus|nucleus	protein binding	g.chr4:141302217A>G	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.439A>G	4.37:g.141302217A>G	ENSP00000477352:p.Ser147Gly					SCOC_uc003iib.2_Missense_Mutation_p.S110G|SCOC_uc011che.1_Missense_Mutation_p.S110G|SCOC_uc003iid.2_Missense_Mutation_p.S109G|SCOC_uc011chf.1_Missense_Mutation_p.S110G|SCOC_uc011chg.1_Missense_Mutation_p.S82G|SCOC_uc011chh.1_Missense_Mutation_p.S146G|SCOC_uc003iig.2_Missense_Mutation_p.S119G	p.S147G	NM_001153484	NP_001146956	Q9UIL1	SCOC_HUMAN			4	466	+	all_hematologic(180;0.162)		147					B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	ENST00000608372.1	37	c.439A>G	CCDS54806.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427018	0.83667	.	.	ENSG00000153130	ENST00000394205;ENST00000338517;ENST00000394203;ENST00000506322;ENST00000512749;ENST00000394201;ENST00000506597;ENST00000502535	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.998	D;D;D;D;D	0.83275	0.987;0.996;0.996;0.942;0.942	T	0.77536	-0.2551	9	0.87932	D	0	-27.1139	15.746	0.77944	1.0:0.0:0.0:0.0	.	42;119;147;109;110	Q9UIL1-4;E9PB65;Q9UIL1;Q9UIL1-3;Q9UIL1-2	.;.;SCOC_HUMAN;.;.	G	110;110;110;70;70;147;119;70	.	ENSP00000345262:S110G	S	+	1	0	SCOC	141521667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.271000	0.95698	2.130000	0.65690	0.477000	0.44152	AGT		0.338	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257274.2			6	11	0	0	0	0.001168	0	6	11				
ZNF330	27309	broad.mit.edu	37	4	142143645	142143645	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:142143645G>T	ENST00000262990.4	+	2	348	c.120G>T	c.(118-120)atG>atT	p.M40I	ZNF330_ENST00000421169.2_Splice_Site_p.W4L	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	40						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.M40I(2)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					ATGCCTCAATGGTATCAGCTT	0.363																																							uc003iiq.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(118-120)ATG>ATT		zinc finger protein 330							90.0	88.0	89.0					4																	142143645		2203	4300	6503	SO:0001630	splice_region_variant	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142143645G>T	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.120+1G>T	4.37:g.142143645G>T						ZNF330_uc011chl.1_Missense_Mutation_p.W4L	p.M40I	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			2	340	+	all_hematologic(180;0.162)		40					B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.120G>T	CCDS3754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.087155|5.087155	0.94100|0.94100	.|.	.|.	ENSG00000109445|ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738|ENST00000421169	T;T;T;T|T	0.35605|0.38560	1.3;1.3;1.3;1.3|1.13	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63474|0.63474	0.2514|0.2514	M|M	0.80982|0.80982	2.52|2.52	0.44117|0.44117	D|D	0.996898|0.996898	B|D	0.12630|0.63880	0.006|0.993	B|D	0.16722|0.70227	0.016|0.968	T|T	0.60994|0.60994	-0.7152|-0.7152	10|9	0.87932|0.02654	D|T	0|1	-15.4267|-15.4267	19.9462|19.9462	0.97183|0.97183	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	40|4	Q9Y3S2|E9PDK6	ZN330_HUMAN|.	I|L	40|4	ENSP00000262990:M40I;ENSP00000422599:M40I;ENSP00000422966:M40I;ENSP00000422251:M40I|ENSP00000397397:W4L	ENSP00000262990:M40I|ENSP00000397397:W4L	M|W	+|+	3|2	0|0	ZNF330|ZNF330	142363095|142363095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	9.176000|9.176000	0.94839|0.94839	2.717000|2.717000	0.92951|0.92951	0.585000|0.585000	0.79938|0.79938	ATG|TGG		0.363	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487	Missense_Mutation	8	14	1	0	7.48243e-07	0.006214	8.60894e-07	8	14				
INPP4B	8821	broad.mit.edu	37	4	143181690	143181690	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:143181690G>A	ENST00000513000.1	-	12	1076	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S	INPP4B_ENST00000508116.1_Missense_Mutation_p.P215S|INPP4B_ENST00000509777.1_Missense_Mutation_p.P215S|INPP4B_ENST00000262992.4_Missense_Mutation_p.P215S|INPP4B_ENST00000308502.4_Missense_Mutation_p.P215S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	215					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.P215S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACACTTTCCGGGGCTGTACAT	0.279																																							uc003iix.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(643-645)CCG>TCG		inositol polyphosphate-4-phosphatase, type II,							53.0	53.0	53.0					4																	143181690		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143181690G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.643C>T	4.37:g.143181690G>A	ENSP00000425487:p.Pro215Ser					INPP4B_uc003iiw.3_Missense_Mutation_p.P215S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.P30S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.P86S	p.P215S	NM_003866	NP_003857	O15327	INP4B_HUMAN			12	1238	-	all_hematologic(180;0.158)		215					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.643C>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795098	0.31777	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.52	3.78	0.43462	.	0.221687	0.37219	N	0.002193	T	0.12178	0.0296	N	0.04508	-0.205	0.32457	N	0.544574	B;B	0.26081	0.141;0.036	B;B	0.26202	0.067;0.028	T	0.21518	-1.0243	10	0.14656	T	0.56	.	6.5521	0.22440	0.1539:0.0:0.6999:0.1463	.	86;215	B7Z6T2;O15327	.;INP4B_HUMAN	S	215;215;215;86;215;215;30;30;215;86	ENSP00000425487:P215S;ENSP00000262992:P215S;ENSP00000308441:P215S;ENSP00000423954:P215S;ENSP00000422793:P215S;ENSP00000426207:P30S;ENSP00000427250:P215S;ENSP00000421065:P86S	ENSP00000262992:P215S	P	-	1	0	INPP4B	143401140	0.996000	0.38824	0.954000	0.39281	0.988000	0.76386	1.385000	0.34408	0.674000	0.31244	0.655000	0.94253	CCG		0.279	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		8	15	0	0	0	0.00308	0	8	15				
PRMT9	90826	broad.mit.edu	37	4	148582162	148582162	+	Silent	SNP	G	G	T	rs201785835		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:148582162G>T	ENST00000322396.6	-	7	1223	c.981C>A	c.(979-981)atC>atA	p.I327I	PRMT10_ENST00000541232.1_Silent_p.I214I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		327	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.I327I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTGGCAAATGGATACCAGCAA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		15542	0.001		0.0	False		,,,				2504	0.0						uc003ilc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(979-981)ATC>ATA		protein arginine methyltransferase 10							59.0	63.0	62.0					4																	148582162		2203	4300	6503	SO:0001819	synonymous_variant	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148582162G>T																												ENST00000322396.6:c.981C>A	4.37:g.148582162G>T						PRMT10_uc003ilb.2_5'UTR|PRMT10_uc003ild.2_Silent_p.I214I	p.I327I	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			7	1123	-			327					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	ENST00000322396.6	37	c.981C>A	CCDS3771.1																																																																																				0.373	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			6	35	1	0	8.12818e-05	0.001984	8.78788e-05	6	35				
LRBA	987	broad.mit.edu	37	4	151520208	151520208	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:151520208A>C	ENST00000357115.3	-	38	6240	c.5997T>G	c.(5995-5997)ccT>ccG	p.P1999P	LRBA_ENST00000507224.1_Silent_p.P1999P|LRBA_ENST00000535741.1_Silent_p.P1999P|LRBA_ENST00000510413.1_Silent_p.P1999P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1999						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P1999P(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCGATCCTAGAGGGTTACGCA	0.502																																							uc010ipj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(3)|skin(1)	7						c.(5995-5997)CCT>CCG		LPS-responsive vesicle trafficking, beach and							149.0	128.0	135.0					4																	151520208		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151520208A>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5997T>G	4.37:g.151520208A>C						LRBA_uc003ilt.3_Silent_p.P658P|LRBA_uc003ilu.3_Silent_p.P1999P	p.P1999P	NM_006726	NP_006717	P50851	LRBA_HUMAN			38	6471	-	all_hematologic(180;0.151)		1999					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.5997T>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	A	4.551	0.102385	0.08731	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.56529	0.1991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57225	-0.7848	4	.	.	.	.	6.196	0.20550	0.8025:0.0:0.1975:0.0	.	.	.	.	R	652	.	.	L	-	2	0	LRBA	151739658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.212000	0.58514	2.242000	0.73789	0.477000	0.44152	CTC		0.502	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			15	47	0	0	0	0.00245	0	15	47				
NPY2R	4887	broad.mit.edu	37	4	156136166	156136166	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:156136166G>T	ENST00000329476.3	+	2	1564	c.1075G>T	c.(1075-1077)Gct>Tct	p.A359S	NPY2R_ENST00000506608.1_Missense_Mutation_p.A359S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	359					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.A359S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GACATTCAAGGCTAAAAAGAA	0.498																																							uc003ioq.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)	3						c.(1075-1077)GCT>TCT		neuropeptide Y receptor Y2							86.0	89.0	88.0					4																	156136166		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136166G>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.1075G>T	4.37:g.156136166G>T	ENSP00000332591:p.Ala359Ser					NPY2R_uc003ior.2_Missense_Mutation_p.A359S	p.A359S	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1570	+	all_hematologic(180;0.24)	Renal(120;0.0854)	359			Cytoplasmic (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.1075G>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	7.137	0.581115	0.13686	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70399	-0.48;-0.48	5.74	2.06	0.26882	.	0.338132	0.27258	N	0.020191	T	0.43478	0.1249	N	0.16567	0.415	0.25933	N	0.98297	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.02654	T	1	.	5.1067	0.14787	0.067:0.1227:0.4301:0.3802	.	359	P49146	NPY2R_HUMAN	S	359	ENSP00000332591:A359S;ENSP00000426366:A359S	ENSP00000332591:A359S	A	+	1	0	NPY2R	156355616	0.822000	0.29219	0.987000	0.45799	0.971000	0.66376	0.845000	0.27668	0.066000	0.16515	-0.165000	0.13383	GCT		0.498	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		9	28	1	0	0.000442599	0.006214	0.000469777	9	28				
RAPGEF2	9693	broad.mit.edu	37	4	160259585	160259585	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:160259585C>T	ENST00000264431.4	+	12	2194	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	592					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.S580L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTATTGCAGTCACATCATCGC	0.383																																							uc003iqg.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1774-1776)TCA>TTA		Rap guanine nucleotide exchange factor 2							189.0	173.0	178.0					4																	160259585		1976	4176	6152	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160259585C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1775C>T	4.37:g.160259585C>T	ENSP00000264431:p.Ser592Leu						p.S592L	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	12	2085	+	all_hematologic(180;0.24)		592					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.1775C>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974256	0.74246	.	.	ENSG00000109756	ENST00000264431	T	0.37235	1.21	5.63	5.63	0.86233	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.40543	1.245	0.80722	D	1	B	0.18610	0.029	B	0.17098	0.017	T	0.05354	-1.0890	10	0.27785	T	0.31	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	592	Q9Y4G8	RPGF2_HUMAN	L	592	ENSP00000264431:S592L	ENSP00000264431:S592L	S	+	2	0	RAPGEF2	160479035	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.398000	0.79919	2.654000	0.90174	0.650000	0.86243	TCA		0.383	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		12	39	0	0	0	0.013537	0	12	39				
MARCH1	55016	broad.mit.edu	37	4	165118606	165118606	+	Intron	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:165118606G>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L86L(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATAGATGCGTGAGGTTTGGAC	0.418																																							uc011cjk.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(256-258)CTC>CTT		acidic nuclear phosphoprotein 32C							144.0	147.0	146.0					4																	165118606		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118606G>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85792C>T	4.37:g.165118606G>A						MARCH1_uc003iqs.1_Intron	p.L86L	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	258	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	86			LRR 3.		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.258C>T	CCDS54814.1																																																																																				0.418	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		24	64	0	0	0	0.00333	0	24	64				
ADAM29	11086	broad.mit.edu	37	4	175898412	175898412	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr4:175898412T>G	ENST00000359240.3	+	5	2406	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	ADAM29_ENST00000445694.1_Missense_Mutation_p.I579R|ADAM29_ENST00000514159.1_Missense_Mutation_p.I579R|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.I579R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	579	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I579R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCAATGACATAATGTGCTGG	0.423																																					Ovarian(140;1727 1835 21805 25838 41440)	Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1735-1737)ATA>AGA		ADAM metallopeptidase domain 29 preproprotein							200.0	184.0	189.0					4																	175898412		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898412T>G	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1736T>G	4.37:g.175898412T>G	ENSP00000352177:p.Ile579Arg					ADAM29_uc003iud.2_Missense_Mutation_p.I579R|ADAM29_uc010irr.2_Missense_Mutation_p.I579R|ADAM29_uc011cki.1_Missense_Mutation_p.I579R	p.I579R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2406	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	579			Cys-rich.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1736T>G	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.747909	0.30955	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	3.69	-7.39	0.01402	ADAM, cysteine-rich (2);	1.493360	0.04949	U	0.460040	T	0.27384	0.0672	M	0.76727	2.345	0.09310	N	1	P	0.48089	0.905	P	0.49047	0.599	T	0.35724	-0.9777	9	.	.	.	.	4.1209	0.10104	0.2043:0.4536:0.207:0.1351	.	579	Q9UKF5	ADA29_HUMAN	R	579	ENSP00000352177:I579R;ENSP00000414544:I579R;ENSP00000384229:I579R;ENSP00000423517:I579R	.	I	+	2	0	ADAM29	176134987	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.479000	0.00983	-2.975000	0.00285	-1.156000	0.01807	ATA		0.423	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				10	86	0	0	0	0.013537	0	10	86				
IRX2	153572	broad.mit.edu	37	5	2748737	2748737	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:2748737G>C	ENST00000382611.6	-	3	1333	c.1085C>G	c.(1084-1086)tCa>tGa	p.S362*	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Nonsense_Mutation_p.S362*	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	362					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCCCCGGTTGAggccggcgc	0.736																																							uc003jda.2		NA																	0				skin(1)	1						c.(1084-1086)TCA>TGA		iroquois homeobox 2							11.0	12.0	12.0					5																	2748737		2138	4181	6319	SO:0001587	stop_gained	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748737G>C	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1085C>G	5.37:g.2748737G>C	ENSP00000372056:p.Ser362*					IRX2_uc003jdb.2_Nonsense_Mutation_p.S362*	p.S362*	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1327	-			362					Q68A19|Q7Z2I7	Nonsense_Mutation	SNP	ENST00000382611.6	37	c.1085C>G	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058651	0.76074	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	.	.	.	4.66	3.77	0.43336	.	0.396553	0.25851	N	0.027894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-9.4904	12.4777	0.55823	0.0823:0.0:0.9177:0.0	.	.	.	.	X	362	.	ENSP00000307006:S362X	S	-	2	0	IRX2	2801737	1.000000	0.71417	0.040000	0.18447	0.015000	0.08874	5.508000	0.67006	2.289000	0.77006	0.561000	0.74099	TCA		0.736	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			3	11	0	0	0	0.001168	0	3	11				
ADAMTS16	170690	broad.mit.edu	37	5	5303476	5303476	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:5303476C>T	ENST00000274181.7	+	19	3023	c.2885C>T	c.(2884-2886)tCg>tTg	p.S962L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	962	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S962L(2)		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						CACTATGACTCGGAGCCAGTC	0.711																																							uc003jdl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2884-2886)TCG>TTG		ADAM metallopeptidase with thrombospondin type 1							8.0	11.0	10.0					5																	5303476		2003	4138	6141	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303476C>T	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.2885C>T	5.37:g.5303476C>T	ENSP00000274181:p.Ser962Leu					ADAMTS16_uc003jdk.1_Missense_Mutation_p.S962L	p.S962L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			19	3023	+			962			TSP type-1 3.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2885C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	5.527	0.282143	0.10458	.	.	ENSG00000145536	ENST00000274181	T	0.54279	0.58	4.69	-0.486	0.12064	.	1.834890	0.02512	N	0.091679	T	0.38772	0.1053	L	0.27975	0.815	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.16394	-1.0404	10	0.44086	T	0.13	.	4.4478	0.11606	0.1534:0.4105:0.0:0.4361	.	962;962	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	L	962	ENSP00000274181:S962L	ENSP00000274181:S962L	S	+	2	0	ADAMTS16	5356476	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.958000	0.03857	-0.361000	0.08125	-0.781000	0.03364	TCG		0.711	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		4	5	0	0	0	0.000602	0	4	5				
CMBL	134147	broad.mit.edu	37	5	10288575	10288575	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:10288575G>A	ENST00000296658.3	-	3	702	c.282C>T	c.(280-282)ttC>ttT	p.F94F	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	94						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.F94F(2)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						GCCACTCAGGGAAGATAGACC	0.507																																							uc003jes.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(280-282)TTC>TTT		carboxymethylenebutenolidase							116.0	112.0	114.0					5																	10288575		2203	4300	6503	SO:0001819	synonymous_variant	134147					cytosol	hydrolase activity|protein binding	g.chr5:10288575G>A		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.282C>T	5.37:g.10288575G>A							p.F94F	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			3	733	-			94					D3DTC7|Q8TED6	Silent	SNP	ENST00000296658.3	37	c.282C>T	CCDS3878.1																																																																																				0.507	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		19	44	0	0	0	0.012319	0	19	44				
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Splice_Site	SNP	G	G	T	rs199649365	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:11082809G>T	ENST00000304623.8	-	16	2976	c.2787C>A	c.(2785-2787)atC>atA	p.I929I	CTNND2_ENST00000511377.1_Splice_Site_p.I838I|CTNND2_ENST00000503622.1_Splice_Site_p.I592I|CTNND2_ENST00000359640.2_Splice_Site_p.I871I|CTNND2_ENST00000458100.2_Splice_Site_p.I496I|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					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)		p.I929I(2)		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						AGAACATACCGATGAGCTCCT	0.507																																							uc003jfa.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2785-2787)ATC>ATA		catenin (cadherin-associated protein), delta 2							132.0	115.0	120.0					5																	11082809		2203	4300	6503	SO:0001630	splice_region_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.chr5:11082809G>T	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.2788+1C>A	5.37:g.11082809G>T						CTNND2_uc010itt.2_Silent_p.I838I|CTNND2_uc011cmy.1_Silent_p.I592I|CTNND2_uc011cmz.1_Silent_p.I496I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.I521I	p.I929I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	2932	-			929					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2787C>A	CCDS3881.1																																																																																				0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	Silent	19	57	1	0	2.94398e-08	0.007413	3.5067e-08	19	57				
FBXL7	23194	broad.mit.edu	37	5	15928326	15928326	+	Missense_Mutation	SNP	G	G	T	rs548322966		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:15928326G>T	ENST00000504595.1	+	3	936	c.455G>T	c.(454-456)cGg>cTg	p.R152L	FBXL7_ENST00000329673.7_Missense_Mutation_p.R140L|FBXL7_ENST00000510662.1_Missense_Mutation_p.R105L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	152	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R152L(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGGACCCGCGGCTCTGGAGG	0.662																																							uc003jfn.1		NA																	2	Substitution - Missense(2)	p.R152W(1)	lung(2)	ovary(2)|lung(1)	3						c.(454-456)CGG>CTG		F-box and leucine-rich repeat protein 7							16.0	20.0	19.0					5																	15928326		2065	4208	6273	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928326G>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.455G>T	5.37:g.15928326G>T	ENSP00000423630:p.Arg152Leu						p.R152L	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	936	+			152			F-box.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.455G>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831707	0.50845	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.38401	1.14;1.14;1.14	5.46	4.58	0.56647	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.28274	0.84	0.58432	D	0.999999	B	0.24258	0.1	B	0.25405	0.06	T	0.06110	-1.0845	10	0.40728	T	0.16	.	14.6188	0.68569	0.0715:0.0:0.9285:0.0	.	152	Q9UJT9	FBXL7_HUMAN	L	152;105;140	ENSP00000423630:R152L;ENSP00000425184:R105L;ENSP00000329632:R140L	ENSP00000329632:R140L	R	+	2	0	FBXL7	15981326	1.000000	0.71417	0.996000	0.52242	0.876000	0.50452	7.973000	0.88032	2.576000	0.86940	0.561000	0.74099	CGG		0.662	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		5	12	1	0	1.6384e-10	0.001984	2.01778e-10	5	12				
FBXL7	23194	broad.mit.edu	37	5	15936692	15936692	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:15936692C>T	ENST00000504595.1	+	4	1354	c.873C>T	c.(871-873)caC>caT	p.H291H	FBXL7_ENST00000329673.7_Silent_p.H279H|FBXL7_ENST00000510662.1_Silent_p.H244H|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	291					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.H291H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAGGCCTGCACACCATCGCGG	0.622																																							uc003jfn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(871-873)CAC>CAT		F-box and leucine-rich repeat protein 7							68.0	69.0	69.0					5																	15936692		2195	4293	6488	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936692C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.873C>T	5.37:g.15936692C>T							p.H291H	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1354	+			291			LRR 5.		B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.873C>T	CCDS54833.1																																																																																				0.622	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		6	35	0	0	0	0.001168	0	6	35				
CDH12	1010	broad.mit.edu	37	5	21760782	21760782	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:21760782T>C	ENST00000382254.1	-	13	2604	c.1518A>G	c.(1516-1518)atA>atG	p.I506M	CDH12_ENST00000522262.1_Missense_Mutation_p.I466M|CDH12_ENST00000504376.2_Missense_Mutation_p.I506M|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I506M(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTATCTGAATTATCTGCAACA	0.403										HNSCC(59;0.17)																													uc010iuc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1516-1518)ATA>ATG		cadherin 12, type 2 preproprotein							106.0	112.0	110.0					5																	21760782		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21760782T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1518A>G	5.37:g.21760782T>C	ENSP00000371689:p.Ile506Met	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.I466M|CDH12_uc003jgk.2_Missense_Mutation_p.I506M|uc003jgj.2_Intron	p.I506M	NM_004061	NP_004052	P55289	CAD12_HUMAN			10	1976	-			506			Extracellular (Potential).|Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1518A>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022210	0.54683	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51817	0.69;0.69;0.69	5.19	-4.31	0.03698	Cadherin (3);Cadherin-like (1);	0.099373	0.64402	D	0.000002	T	0.45637	0.1352	L	0.55213	1.73	0.35106	D	0.765721	B;B	0.27192	0.084;0.171	B;B	0.39971	0.315;0.283	T	0.53287	-0.8460	10	0.72032	D	0.01	.	12.2667	0.54683	0.0:0.1183:0.6268:0.2548	.	466;506	B7Z2U6;P55289	.;CAD12_HUMAN	M	506;506;466	ENSP00000423577:I506M;ENSP00000371689:I506M;ENSP00000428786:I466M	ENSP00000371689:I506M	I	-	3	3	CDH12	21796539	0.776000	0.28616	0.984000	0.44739	0.993000	0.82548	-0.162000	0.10012	-0.639000	0.05502	0.528000	0.53228	ATA		0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		16	33	0	0	0	0.003163	0	16	33				
CDH10	1008	broad.mit.edu	37	5	24593464	24593464	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:24593464C>A	ENST00000264463.4	-	2	643	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	46					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G46C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAATTTTGCCATCACTCCTT	0.418										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(136-138)GGC>TGC		cadherin 10, type 2 preproprotein							135.0	130.0	131.0					5																	24593464		2203	4299	6502	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593464C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.136G>T	5.37:g.24593464C>A	ENSP00000264463:p.Gly46Cys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G46C	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	468	-			46					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.136G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026925	0.75390	.	.	ENSG00000040731	ENST00000264463	T	0.56275	0.47	4.37	4.37	0.52481	.	0.176948	0.50627	D	0.000119	T	0.60971	0.2310	M	0.64404	1.975	0.51012	D	0.999902	D	0.57899	0.981	P	0.51193	0.662	T	0.67385	-0.5684	10	0.62326	D	0.03	.	16.3044	0.82842	0.0:1.0:0.0:0.0	.	46	Q9Y6N8	CAD10_HUMAN	C	46	ENSP00000264463:G46C	ENSP00000264463:G46C	G	-	1	0	CDH10	24629221	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.110000	0.64622	2.145000	0.66743	0.585000	0.79938	GGC		0.418	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	22	1	0	0.00198382	0.001984	0.00206488	7	22				
ADAMTS12	81792	broad.mit.edu	37	5	33527444	33527444	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:33527444G>A	ENST00000504830.1	-	24	4969	c.4634C>T	c.(4633-4635)tCa>tTa	p.S1545L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1460L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1545	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1545L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAACTGGCTGACAGTTTGTC	0.438										HNSCC(64;0.19)																													uc003jia.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4633-4635)TCA>TTA		ADAM metallopeptidase with thrombospondin type 1							123.0	114.0	117.0					5																	33527444		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527444G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4634C>T	5.37:g.33527444G>A	ENSP00000422554:p.Ser1545Leu	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1460L	p.S1545L	NM_030955	NP_112217	P58397	ATS12_HUMAN			24	4797	-			1545			PLAC.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4634C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770016	0.90020	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61158	0.15;0.13	5.93	5.93	0.95920	PLAC (1);	0.131721	0.53938	D	0.000056	T	0.64483	0.2602	M	0.71581	2.175	0.80722	D	1	P;P	0.40180	0.705;0.58	B;B	0.44044	0.439;0.254	T	0.67469	-0.5663	10	0.66056	D	0.02	.	15.8369	0.78805	0.0:0.0:1.0:0.0	.	1460;1545	P58397-3;P58397	.;ATS12_HUMAN	L	1545;1460	ENSP00000422554:S1545L;ENSP00000344847:S1460L	ENSP00000344847:S1460L	S	-	2	0	ADAMTS12	33563201	0.997000	0.39634	0.461000	0.27105	0.974000	0.67602	5.318000	0.65829	2.805000	0.96524	0.655000	0.94253	TCA		0.438	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		11	43	0	0	0	0.010729	0	11	43				
SLC45A2	51151	broad.mit.edu	37	5	33947350	33947350	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:33947350C>T	ENST00000296589.4	-	6	1432	c.1286G>A	c.(1285-1287)aGc>aAc	p.S429N	SLC45A2_ENST00000342059.3_Missense_Mutation_p.S370N|SLC45A2_ENST00000382102.3_Missense_Mutation_p.S429N	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	429					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.S429N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACCAAACAGGCTGCACAGGAC	0.507																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1285-1287)AGC>AAC		membrane-associated transporter protein isoform							185.0	183.0	184.0					5																	33947350		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947350C>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1286G>A	5.37:g.33947350C>T	ENSP00000296589:p.Ser429Asn					SLC45A2_uc003jie.2_Missense_Mutation_p.S429N	p.S429N	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			6	1378	-			429			Helical; Name=10; (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1286G>A	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768902	0.31320	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102	D;D;D	0.95518	-3.73;-3.73;-3.73	5.62	3.84	0.44239	Major facilitator superfamily domain, general substrate transporter (1);	0.782162	0.12869	N	0.432484	D	0.95726	0.8610	M	0.72894	2.215	0.35538	D	0.802808	P;P	0.44877	0.845;0.592	P;P	0.49140	0.568;0.601	D	0.94909	0.8063	10	0.52906	T	0.07	-1.4622	11.4286	0.50027	0.0693:0.1312:0.7996:0.0	.	429;429	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	N	429;370;429	ENSP00000296589:S429N;ENSP00000341014:S370N;ENSP00000371534:S429N	ENSP00000296589:S429N	S	-	2	0	SLC45A2	33983107	0.320000	0.24616	0.001000	0.08648	0.117000	0.20001	3.415000	0.52700	0.731000	0.32448	-0.165000	0.13383	AGC		0.507	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		27	107	0	0	0	0.005443	0	27	107				
SPEF2	79925	broad.mit.edu	37	5	35654779	35654779	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:35654779G>C	ENST00000356031.3	+	7	1083	c.929G>C	c.(928-930)aGa>aCa	p.R310T	SPEF2_ENST00000282469.6_Missense_Mutation_p.R310T|SPEF2_ENST00000509059.1_Missense_Mutation_p.R310T|SPEF2_ENST00000440995.2_Missense_Mutation_p.R310T	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	310					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.R310T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGGAGAAAAGACGGCGGAAA	0.388																																							uc003jjo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(928-930)AGA>ACA		KPL2 protein isoform 1							82.0	81.0	82.0					5																	35654779		2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35654779G>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.929G>C	5.37:g.35654779G>C	ENSP00000348314:p.Arg310Thr					SPEF2_uc003jjn.1_Missense_Mutation_p.R310T|SPEF2_uc003jjq.3_Missense_Mutation_p.R310T	p.R310T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1040	+	all_lung(31;7.56e-05)		310					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.929G>C	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062142	0.93846	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.17370	2.28;3.24;2.28;3.24	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.991;0.995;0.998	T	0.39702	-0.9601	10	0.87932	D	0	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	310;310;310	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	T	310	ENSP00000282469:R310T;ENSP00000348314:R310T;ENSP00000421593:R310T;ENSP00000412125:R310T	ENSP00000282469:R310T	R	+	2	0	SPEF2	35690536	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.073000	0.89498	2.704000	0.92352	0.655000	0.94253	AGA		0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		6	31	0	0	0	0.001168	0	6	31				
SPEF2	79925	broad.mit.edu	37	5	35776497	35776497	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:35776497G>T	ENST00000356031.3	+	29	4371	c.4217G>T	c.(4216-4218)aGt>aTt	p.S1406I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_5'Flank|SPEF2_ENST00000440995.2_Splice_Site_p.S1401I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1406					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.S1406I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAATGGCCAGGTAAAGTACT	0.308																																							uc003jjo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(4216-4218)AGT>ATT		KPL2 protein isoform 1							142.0	133.0	136.0					5																	35776497		1821	4077	5898	SO:0001630	splice_region_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35776497G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4217+1G>T	5.37:g.35776497G>T						SPEF2_uc003jjp.1_Missense_Mutation_p.S892I|SPEF2_uc003jjr.2_5'UTR	p.S1406I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		29	4328	+	all_lung(31;7.56e-05)		1406					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.4217G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011108	0.75046	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.12984	2.63;2.63	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.01844	-1.1262	10	0.87932	D	0	.	17.1918	0.86881	0.0:0.0:1.0:0.0	.	1401;1406	Q9C093-2;Q9C093	.;SPEF2_HUMAN	I	1406;1401	ENSP00000348314:S1406I;ENSP00000412125:S1401I	ENSP00000348314:S1406I	S	+	2	0	SPEF2	35812254	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.795000	0.69074	2.800000	0.96347	0.455000	0.32223	AGT		0.308	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Missense_Mutation	8	30	1	0	5.68852e-11	0.004482	7.05961e-11	8	30				
C6	729	broad.mit.edu	37	5	41149361	41149361	+	Missense_Mutation	SNP	C	C	A	rs115220610		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:41149361C>A	ENST00000263413.3	-	17	2869	c.2605G>T	c.(2605-2607)Gac>Tac	p.D869Y	C6_ENST00000337836.5_Missense_Mutation_p.D869Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	869	C5b-binding domain.|Factor I module (FIM) 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTTCCCAGTCATAGCAGGTG	0.423																																							uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2605-2607)GAC>TAC		complement component 6 precursor							248.0	239.0	242.0					5																	41149361		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149361C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2605G>T	5.37:g.41149361C>A	ENSP00000263413:p.Asp869Tyr					C6_uc003jml.1_Missense_Mutation_p.D869Y	p.D869Y	NM_000065	NP_000056	P13671	CO6_HUMAN			17	2815	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	869			Complement control factor I module 2.|C5b-binding domain.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2605G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377948	0.61735	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61040	0.14;0.14	5.79	4.92	0.64577	Factor I / membrane attack complex (1);	0.192779	0.53938	D	0.000054	T	0.58652	0.2137	N	0.19112	0.55	0.50313	D	0.999862	D	0.63046	0.992	P	0.58391	0.838	T	0.64702	-0.6345	10	0.72032	D	0.01	-15.9616	14.6908	0.69085	0.0:0.9304:0.0:0.0696	.	869	P13671	CO6_HUMAN	Y	869	ENSP00000338861:D869Y;ENSP00000263413:D869Y	ENSP00000263413:D869Y	D	-	1	0	C6	41185118	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	3.311000	0.51919	1.455000	0.47813	0.655000	0.94253	GAC		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			25	125	1	0	2.98393e-07	0.00278	3.46613e-07	25	125				
C6	729	broad.mit.edu	37	5	41199909	41199909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:41199909C>A	ENST00000263413.3	-	4	670	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	C6_ENST00000337836.5_Nonsense_Mutation_p.E136*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	136					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.E136*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGCCTCTTCAATTTTGCAG	0.428																																							uc003jmk.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(406-408)GAA>TAA		complement component 6 precursor							120.0	118.0	119.0					5																	41199909		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41199909C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.406G>T	5.37:g.41199909C>A	ENSP00000263413:p.Glu136*					C6_uc003jml.1_Nonsense_Mutation_p.E136*	p.E136*	NM_000065	NP_000056	P13671	CO6_HUMAN			4	616	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	136						Nonsense_Mutation	SNP	ENST00000263413.3	37	c.406G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	37	6.045054	0.97231	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	6.02	6.02	0.97574	.	0.154798	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-27.4876	19.3087	0.94175	0.0:1.0:0.0:0.0	.	.	.	.	X	136	.	ENSP00000263413:E136X	E	-	1	0	C6	41235666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.191000	0.50981	2.857000	0.98124	0.650000	0.86243	GAA		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			11	35	1	0	2.27111e-07	0.013537	2.64023e-07	11	35				
PLCXD3	345557	broad.mit.edu	37	5	41381966	41381966	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:41381966T>G	ENST00000377801.3	-	2	848	c.774A>C	c.(772-774)aaA>aaC	p.K258N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.K258N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	258					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.K258N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGCCACCCCTTTGACCACAG	0.423																																							uc003jmm.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(772-774)AAA>AAC		phosphatidylinositol-specific phospholipase C, X							81.0	86.0	84.0					5																	41381966		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41381966T>G		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.774A>C	5.37:g.41381966T>G	ENSP00000367032:p.Lys258Asn						p.K258N	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	876	-			258					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.774A>C	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.280750	0.59758	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	2.82	0.32997	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.043889	0.85682	D	0.000000	T	0.65048	0.2654	L	0.59436	1.845	0.58432	D	0.999998	D	0.57899	0.981	D	0.67231	0.95	T	0.59021	-0.7532	9	0.17369	T	0.5	-17.0114	8.9125	0.35561	0.0:0.3328:0.0:0.6672	.	258	Q63HM9	PLCX3_HUMAN	N	258	.	ENSP00000333751:K258N	K	-	3	2	PLCXD3	41417723	0.773000	0.28580	1.000000	0.80357	0.997000	0.91878	-0.087000	0.11215	0.207000	0.20607	0.533000	0.62120	AAA		0.423	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		5	38	0	0	0	0.001168	0	5	38				
MRPS30	10884	broad.mit.edu	37	5	44811251	44811251	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:44811251G>T	ENST00000507110.1	+	2	780	c.742G>T	c.(742-744)Gca>Tca	p.A248S	RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	248					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A248S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CAAGCAACTCGCAGAGGTAAG	0.368																																							uc003joh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(742-744)GCA>TCA		mitochondrial ribosomal protein S30							127.0	127.0	127.0					5																	44811251		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44811251G>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.742G>T	5.37:g.44811251G>T	ENSP00000424328:p.Ala248Ser					MRPS30_uc003joi.1_RNA	p.A248S	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			2	780	+	Lung NSC(6;8.08e-07)		248					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.742G>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832141	0.32421	.	.	ENSG00000112996	ENST00000507110	T	0.17691	2.26	4.88	1.98	0.26296	.	0.325429	0.36303	N	0.002672	T	0.05823	0.0152	N	0.02011	-0.69	0.22779	N	0.998744	B	0.10296	0.003	B	0.11329	0.006	T	0.32666	-0.9898	10	0.41790	T	0.15	1.1027	6.937	0.24472	0.1369:0.6707:0.1219:0.0706	.	248	Q9NP92	RT30_HUMAN	S	248	ENSP00000424328:A248S	ENSP00000424328:A248S	A	+	1	0	MRPS30	44847008	0.231000	0.23751	0.567000	0.28434	0.537000	0.34900	0.712000	0.25779	0.269000	0.21961	-0.147000	0.13772	GCA		0.368	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		5	26	1	0	0.000602214	0.000602	0.000636401	5	26				
GPX8	493869	broad.mit.edu	37	5	54456044	54456044	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:54456044G>A	ENST00000503787.1	+	1	99	c.24G>A	c.(22-24)ccG>ccA	p.P8P	CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000515370.1_Silent_p.P8P|GPX8_ENST00000296734.6_Silent_p.P8P|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000381375.2_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	8					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.P8P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CAGCTTACCCGCTAAAATGTT	0.443																																							uc003jpq.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(22-24)CCG>CCA		glutathione peroxidase 8	Glutathione(DB00143)						78.0	78.0	78.0					5																	54456044		2203	4300	6503	SO:0001819	synonymous_variant	493869				response to oxidative stress	integral to membrane	glutathione peroxidase activity	g.chr5:54456044G>A	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.24G>A	5.37:g.54456044G>A						CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Silent_p.P8P|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Silent_p.P8P	p.P8P	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN			1	61	+			8						Silent	SNP	ENST00000503787.1	37	c.24G>A	CCDS34156.1																																																																																				0.443	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		10	27	0	0	0	0.008291	0	10	27				
SKIV2L2	23517	broad.mit.edu	37	5	54603803	54603803	+	5'UTR	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:54603803C>G	ENST00000230640.5	+	0	216				DHX29_ENST00000251636.5_5'Flank|SKIV2L2_ENST00000545714.1_5'Flank	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CGCGGGGCATCGTGGGTAGGA	0.587																																					Melanoma(2;92 134 23744 29976 33782)	Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NA																	0				ovary(1)|skin(1)	2						c.(-40--36)ATCGT>ATGGT		superkiller viralicidic activity 2-like 2							70.0	65.0	67.0					5																	54603803		2203	4300	6503	SO:0001623	5_prime_UTR_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54603803C>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.-39C>G	5.37:g.54603803C>G						SKIV2L2_uc011cqi.1_Translation_Start_Site|DHX29_uc003jpx.2_5'Flank|DHX29_uc010ivw.2_5'Flank		NM_015360	NP_056175	P42285	SK2L2_HUMAN			1	228	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)						Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Translation_Start_Site	SNP	ENST00000230640.5	37	c.-38C>G	CCDS3967.1																																																																																				0.587	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			11	65	0	0	0	0.013537	0	11	65				
SLC38A9	153129	broad.mit.edu	37	5	54960619	54960619	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:54960619G>A	ENST00000396865.2	-	8	1190	c.599C>T	c.(598-600)tCg>tTg	p.S200L	SLC38A9_ENST00000515629.1_Missense_Mutation_p.S137L|SLC38A9_ENST00000318672.3_Missense_Mutation_p.S200L|SLC38A9_ENST00000539768.1_Missense_Mutation_p.S200L|SLC38A9_ENST00000512595.1_Missense_Mutation_p.S173L|SLC38A9_ENST00000416547.2_Missense_Mutation_p.S76L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	200					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAGGAGACTCGACCACTGCCC	0.368																																							uc003jqf.2		NA																	0					0						c.(598-600)TCG>TTG		solute carrier family 38, member 9							50.0	48.0	49.0					5																	54960619		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54960619G>A		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.599C>T	5.37:g.54960619G>A	ENSP00000380074:p.Ser200Leu					SLC38A9_uc003jqd.2_Missense_Mutation_p.S137L|SLC38A9_uc010ivx.2_Missense_Mutation_p.S173L|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Missense_Mutation_p.S71L	p.S200L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			8	800	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	200			Helical; (Potential).		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.599C>T	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121716	0.77436	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233;ENST00000512208	T;T;T;T;T;T;T;T	0.01804	4.63;4.63;4.63;4.63;4.63;4.63;4.63;4.63	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.05456	0.0144	L	0.36672	1.1	0.80722	D	1	P;D	0.89917	0.691;1.0	B;D	0.79108	0.153;0.992	T	0.49204	-0.8964	10	0.02654	T	1	-11.9901	19.618	0.95643	0.0:0.0:1.0:0.0	.	173;200	B3KXV1;Q8NBW4	.;S38A9_HUMAN	L	200;200;200;137;76;173;200;137	ENSP00000380074:S200L;ENSP00000316596:S200L;ENSP00000437771:S200L;ENSP00000420934:S137L;ENSP00000397429:S76L;ENSP00000427335:S173L;ENSP00000423219:S200L;ENSP00000426413:S137L	ENSP00000316596:S200L	S	-	2	0	SLC38A9	54996376	1.000000	0.71417	0.977000	0.42913	0.986000	0.74619	8.030000	0.88816	2.635000	0.89317	0.650000	0.86243	TCG		0.368	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		3	25	0	0	0	0.009096	0	3	25				
ANKRD55	79722	broad.mit.edu	37	5	55407437	55407437	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:55407437C>A	ENST00000341048.4	-	10	1289	c.1138G>T	c.(1138-1140)Gac>Tac	p.D380Y	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.D337Y|ANKRD55_ENST00000434982.2_Missense_Mutation_p.D92Y	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	380								p.D380Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTGATGATGTCATTGACTTCT	0.463																																							uc003jqu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1138-1140)GAC>TAC		ankyrin repeat domain 55 isoform 1							307.0	295.0	299.0					5																	55407437		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407437C>A	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1138G>T	5.37:g.55407437C>A	ENSP00000342295:p.Asp380Tyr					ANKRD55_uc003jqt.2_Missense_Mutation_p.D92Y	p.D380Y	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			10	1290	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	379					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.1138G>T	CCDS34161.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.76|19.76	3.886824|3.886824	0.72410|0.72410	.|.	.|.	ENSG00000164512|ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982|ENST00000505970	T;T;T|.	0.57752|.	0.69;0.38;0.86|.	5.59|5.59	4.72|4.72	0.59763|0.59763	.|.	0.062143|.	0.64402|.	D|.	0.000008|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.34521|0.34521	1.04|1.04	0.53688|0.53688	D|D	0.99997|0.99997	D;D|.	0.76494|.	0.998;0.999|.	P;D|.	0.69142|.	0.879;0.962|.	T|T	0.49184|0.49184	-0.8966|-0.8966	10|6	0.72032|0.21540	D|T	0.01|0.41	.|.	14.7228|14.7228	0.69320|0.69320	0.0:0.9301:0.0:0.0699|0.0:0.9301:0.0:0.0699	.|.	380;379|.	B3KVT8;Q3KP44|.	.;ANR55_HUMAN|.	Y|I	380;380;337;92|124	ENSP00000342295:D380Y;ENSP00000424230:D337Y;ENSP00000429421:D92Y|.	ENSP00000342295:D380Y|ENSP00000422370:M124I	D|M	-|-	1|3	0|0	ANKRD55|ANKRD55	55443194|55443194	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.870000|0.870000	0.49936|0.49936	4.785000|4.785000	0.62418|0.62418	1.503000|1.503000	0.48686|0.48686	0.650000|0.650000	0.86243|0.86243	GAC|ATG		0.463	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		40	203	1	0	4.44401e-20	0.010771	5.99694e-20	40	203				
TRIM23	373	broad.mit.edu	37	5	64910024	64910024	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:64910024C>T	ENST00000231524.9	-	3	638	c.267G>A	c.(265-267)ttG>ttA	p.L89L	TRIM23_ENST00000274327.7_Silent_p.L89L|TRIM23_ENST00000381018.3_Silent_p.L89L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	89					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATTTTTTTTCAATCCCCAGA	0.353																																							uc003jty.2		NA																	0				ovary(3)|lung(1)	4						c.(265-267)TTG>TTA		ADP-ribosylation factor domain protein 1 isoform							94.0	100.0	98.0					5																	64910024		2203	4300	6503	SO:0001819	synonymous_variant	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64910024C>T	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.267G>A	5.37:g.64910024C>T						TRIM23_uc003jtw.2_Silent_p.L89L|TRIM23_uc003jtx.2_Silent_p.L89L	p.L89L	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	3	353	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	89					Q9BZY4|Q9BZY5	Silent	SNP	ENST00000231524.9	37	c.267G>A	CCDS3987.1																																																																																				0.353	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		4	47	0	0	0	0.000602	0	4	47				
BDP1	55814	broad.mit.edu	37	5	70806253	70806253	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:70806253G>A	ENST00000358731.4	+	17	3597	c.3334G>A	c.(3334-3336)Ggt>Agt	p.G1112S	BDP1_ENST00000380675.2_De_novo_Start_OutOfFrame	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1112	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G1112S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAGCCTCTAGGTGAAATGCA	0.433																																							uc003kbp.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(3334-3336)GGT>AGT		transcription factor-like nuclear regulator							75.0	75.0	75.0					5																	70806253		1819	4082	5901	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806253G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3334G>A	5.37:g.70806253G>A	ENSP00000351575:p.Gly1112Ser					BDP1_uc003kbn.1_Missense_Mutation_p.G1112S|BDP1_uc003kbo.2_Missense_Mutation_p.G1112S	p.G1112S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3597	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1112			6.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3334G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	5.724	0.318141	0.10845	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.26373	1.74	2.79	1.91	0.25777	.	4.545860	0.00582	N	0.000338	T	0.15478	0.0373	N	0.19112	0.55	0.18873	N	0.999986	B;P;B	0.35307	0.076;0.494;0.093	B;B;B	0.32533	0.031;0.147;0.041	T	0.19778	-1.0295	10	0.09843	T	0.71	.	5.6053	0.17377	0.1597:0.0:0.8403:0.0	.	1112;1112;1112	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	S	1112;692	ENSP00000351575:G1112S	ENSP00000351575:G1112S	G	+	1	0	BDP1	70842009	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.278000	0.18753	0.730000	0.32425	0.205000	0.17691	GGT		0.433	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		9	31	0	0	0	0.006214	0	9	31				
DMGDH	29958	broad.mit.edu	37	5	78340326	78340326	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:78340326G>A	ENST00000255189.3	-	6	823	c.795C>T	c.(793-795)ctC>ctT	p.L265L	DMGDH_ENST00000380311.4_Silent_p.L64L|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	265					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.L265L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAACCGGAATGAGAGGATGTT	0.373																																							uc003kfs.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(793-795)CTC>CTT		dimethylglycine dehydrogenase precursor							101.0	91.0	94.0					5																	78340326		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78340326G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.795C>T	5.37:g.78340326G>A						DMGDH_uc011cte.1_Silent_p.L115L|DMGDH_uc011ctf.1_Silent_p.L64L|DMGDH_uc011ctg.1_Intron	p.L265L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	6	801	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	265					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.795C>T	CCDS4044.1																																																																																				0.373	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		13	32	0	0	0	0.013537	0	13	32				
BHMT	635	broad.mit.edu	37	5	78422045	78422045	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:78422045C>A	ENST00000274353.5	+	6	909	c.802C>A	c.(802-804)Cca>Aca	p.P268T	BHMT_ENST00000524080.1_Missense_Mutation_p.P115T|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	268	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.P268T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCCAGAATTCCCATTTGGTAA	0.433																																							uc003kfu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(802-804)CCA>ACA		betaine-homocysteine methyltransferase	L-Methionine(DB00134)						88.0	75.0	80.0					5																	78422045		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78422045C>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.802C>A	5.37:g.78422045C>A	ENSP00000274353:p.Pro268Thr					BHMT_uc011cti.1_Missense_Mutation_p.P115T	p.P268T	NM_001713	NP_001704	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	6	907	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	268			Hcy-binding.		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.802C>A	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728728	0.69074	.	.	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.14391	2.51;2.51	5.66	5.66	0.87406	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.74674	0.959;0.984	T	0.05402	-1.0887	10	0.30078	T	0.28	-29.4066	20.1253	0.97977	0.0:1.0:0.0:0.0	.	115;268	E5RJH0;Q93088	.;BHMT1_HUMAN	T	268;115;115	ENSP00000274353:P268T;ENSP00000428240:P115T	ENSP00000274353:P268T	P	+	1	0	BHMT	78457801	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	7.459000	0.80802	2.832000	0.97577	0.655000	0.94253	CCA		0.433	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		7	31	1	0	1.06961e-07	0.00308	1.25857e-07	7	31				
SPZ1	84654	broad.mit.edu	37	5	79616095	79616095	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79616095C>G	ENST00000296739.4	+	1	306	c.61C>G	c.(61-63)Cct>Gct	p.P21A		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	21					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P21A(2)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAACCCTACTCCTGATCCTCA	0.473																																							uc003kgn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(61-63)CCT>GCT		spermatogenic leucine zipper 1							241.0	240.0	240.0					5																	79616095		1935	4152	6087	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616095C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.61C>G	5.37:g.79616095C>G	ENSP00000369611:p.Pro21Ala					uc011ctk.1_RNA	p.P21A	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	306	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	21					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.61C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422014	0.25639	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.79454	-1.27;-0.8	4.19	-0.1	0.13621	.	0.444670	0.19293	N	0.117857	T	0.63141	0.2486	L	0.42245	1.32	0.09310	N	1	B	0.26602	0.154	B	0.27262	0.078	T	0.51996	-0.8634	10	0.44086	T	0.13	-0.1896	2.4446	0.04503	0.23:0.3553:0.3146:0.1002	.	21	Q9BXG8	SPZ1_HUMAN	A	21	ENSP00000426530:P21A;ENSP00000369611:P21A	ENSP00000369611:P21A	P	+	1	0	SPZ1	79651851	0.000000	0.05858	0.006000	0.13384	0.080000	0.17528	-0.869000	0.04232	-0.043000	0.13513	-0.502000	0.04539	CCT		0.473	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		31	135	0	0	0	0.013726	0	31	135				
ANKRD34B	340120	broad.mit.edu	37	5	79855043	79855043	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79855043C>T	ENST00000338682.3	-	5	1468	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	266						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E266K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGAGCTCCTCTTGCAATGAA	0.517																																							uc010jam.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(796-798)GAG>AAG		ankyrin repeat domain 34B							52.0	57.0	55.0					5																	79855043		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855043C>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.796G>A	5.37:g.79855043C>T	ENSP00000339802:p.Glu266Lys					ANKRD34B_uc003kgw.2_Missense_Mutation_p.E266K|ANKRD34B_uc010jan.2_Missense_Mutation_p.E266K	p.E266K	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1146	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	266					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.796G>A	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046949	0.93740	.	.	ENSG00000189127	ENST00000338682	T	0.26660	1.72	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000002	T	0.52141	0.1716	M	0.72894	2.215	0.58432	D	0.999999	D	0.62365	0.991	D	0.66847	0.947	T	0.50145	-0.8862	10	0.87932	D	0	-25.2872	19.0001	0.92830	0.0:1.0:0.0:0.0	.	266	A5PLL1	AN34B_HUMAN	K	266	ENSP00000339802:E266K	ENSP00000339802:E266K	E	-	1	0	ANKRD34B	79890799	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	3.487000	0.53222	2.832000	0.97577	0.655000	0.94253	GAG		0.517	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		7	52	0	0	0	0.001984	0	7	52				
PJA2	9867	broad.mit.edu	37	5	108714382	108714382	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:108714382T>A	ENST00000361189.2	-	4	1045	c.806A>T	c.(805-807)cAa>cTa	p.Q269L	PJA2_ENST00000361557.3_Missense_Mutation_p.Q269L|PJA2_ENST00000511624.1_5'Flank	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	269					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q269L(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTATTTTGTTGTTTCGTACT	0.403																																							uc003kos.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(805-807)CAA>CTA		praja 2, RING-H2 motif containing							123.0	141.0	135.0					5																	108714382		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108714382T>A	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.806A>T	5.37:g.108714382T>A	ENSP00000354775:p.Gln269Leu						p.Q269L	NM_014819	NP_055634	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	4	1026	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	269					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.806A>T	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	T	2.671	-0.277511	0.05679	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05199	3.48;3.48	4.83	2.26	0.28386	.	0.586022	0.17001	N	0.190907	T	0.05044	0.0135	L	0.44542	1.39	0.20703	N	0.999862	B	0.16396	0.017	B	0.18263	0.021	T	0.36696	-0.9737	10	0.34782	T	0.22	-5.9987	1.5328	0.02539	0.1389:0.1638:0.1435:0.5537	.	269	O43164	PJA2_HUMAN	L	269	ENSP00000354775:Q269L;ENSP00000355284:Q269L	ENSP00000354775:Q269L	Q	-	2	0	PJA2	108742281	0.292000	0.24362	0.991000	0.47740	0.563000	0.35712	0.574000	0.23714	0.810000	0.34279	0.533000	0.62120	CAA		0.403	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		13	46	0	0	0	0.013537	0	13	46				
EPB41L4A	64097	broad.mit.edu	37	5	111519791	111519791	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:111519791C>A	ENST00000261486.5	-	18	1820	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	515						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.W515L(2)|p.W142L(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TACAGCTTCCCACTGAGGCGC	0.453																																							uc003kpv.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1543-1545)TGG>TTG		erythrocyte protein band 4.1-like 4							136.0	124.0	128.0					5																	111519791		1872	4101	5973	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111519791C>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1544G>T	5.37:g.111519791C>A	ENSP00000261486:p.Trp515Leu					EPB41L4A_uc003kpp.1_Missense_Mutation_p.W142L	p.W515L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	18	1818	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	515					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1544G>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068037	0.93950	.	.	ENSG00000129595	ENST00000261486	D	0.83163	-1.69	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91666	0.7366	M	0.76328	2.33	0.51482	D	0.999924	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.91184	0.4978	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	515;142	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	L	515	ENSP00000261486:W515L	ENSP00000261486:W515L	W	-	2	0	EPB41L4A	111547690	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.071000	0.71229	2.941000	0.99782	0.655000	0.94253	TGG		0.453	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			9	34	1	0	0.00829132	0.008291	0.00852017	9	34				
MCC	4163	broad.mit.edu	37	5	112406907	112406907	+	Silent	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:112406907T>C	ENST00000302475.4	-	10	1802	c.1239A>G	c.(1237-1239)caA>caG	p.Q413Q	MCC_ENST00000515367.2_Silent_p.Q350Q|MCC_ENST00000408903.3_Silent_p.Q603Q|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	413					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q603Q(2)|p.Q413Q(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGTCATTTTGGGATTTGA	0.428																																							uc003kqj.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1237-1239)CAA>CAG		mutated in colorectal cancers isoform 2							215.0	196.0	202.0					5																	112406907		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112406907T>C		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1239A>G	5.37:g.112406907T>C						MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.Q603Q|MCC_uc011cwb.1_Silent_p.Q413Q|MCC_uc010jcd.1_Silent_p.Q375Q	p.Q413Q	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	10	1769	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	413					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.1239A>G	CCDS4111.1																																																																																				0.428	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		26	92	0	0	0	0.005443	0	26	92				
FEM1C	56929	broad.mit.edu	37	5	114879140	114879140	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:114879140C>A	ENST00000274457.3	-	2	612	c.51G>T	c.(49-51)cgG>cgT	p.R17R		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	17					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.R17R(2)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGGTGAGAAGCCGGAGTTTGC	0.468																																							uc003krb.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)	3						c.(49-51)CGG>CGT		feminization 1 homolog a							54.0	59.0	58.0					5																	114879140		2202	4300	6502	SO:0001819	synonymous_variant	56929					cytoplasm		g.chr5:114879140C>A		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.51G>T	5.37:g.114879140C>A							p.R17R	NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	2	613	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	17			ANK 1.		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	37	c.51G>T	CCDS4118.1																																																																																				0.468	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		12	48	1	0	5.50884e-06	0.013537	6.16718e-06	12	48				
LVRN	206338	broad.mit.edu	37	5	115298888	115298888	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:115298888C>A	ENST00000357872.4	+	1	698	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		192						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L192I(2)									GGTGCTGGAGCTCAGTGAGCC	0.632																																							uc003kro.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(574-576)CTC>ATC		laeverin							21.0	22.0	21.0					5																	115298888		2199	4294	6493	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298888C>A																												ENST00000357872.4:c.574C>A	5.37:g.115298888C>A	ENSP00000350541:p.Leu192Ile					AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	p.L192I	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			1	738	+			192			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.574C>A	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389122	0.61956	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06142	3.34	4.6	4.6	0.57074	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.45126	D	0.000397	T	0.25195	0.0612	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01169	-1.1430	10	0.62326	D	0.03	.	12.9406	0.58340	0.0:1.0:0.0:0.0	.	192	Q6Q4G3	AMPQ_HUMAN	I	192;181	ENSP00000350541:L192I	ENSP00000350541:L192I	L	+	1	0	AC010282.1	115326787	1.000000	0.71417	0.986000	0.45419	0.325000	0.28411	3.079000	0.50104	2.105000	0.64084	0.655000	0.94253	CTC		0.632	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			8	23	1	0	0.000274275	0.004482	0.000292399	8	23				
FBN2	2201	broad.mit.edu	37	5	127728854	127728854	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:127728854C>A	ENST00000508053.1	-	16	2413	c.1439G>T	c.(1438-1440)gGa>gTa	p.G480V	FBN2_ENST00000508989.1_Missense_Mutation_p.G447V|FBN2_ENST00000262464.4_Missense_Mutation_p.G480V			P35556	FBN2_HUMAN	fibrillin 2	480					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G480V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGTCCCTGTCCCCCGGCCCC	0.512																																							uc003kuu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1438-1440)GGA>GTA		fibrillin 2 precursor							76.0	88.0	84.0					5																	127728854		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728854C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1439G>T	5.37:g.127728854C>A	ENSP00000424571:p.Gly480Val					FBN2_uc003kuv.2_Missense_Mutation_p.G447V	p.G480V	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1878	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	480					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1439G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807558	0.31961	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.85702	-1.87;-1.87;-2.02	4.02	4.02	0.46733	.	0.170515	0.39475	N	0.001344	D	0.85596	0.5733	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.80745	-0.1245	10	0.11485	T	0.65	.	17.4572	0.87610	0.0:1.0:0.0:0.0	.	447;480	D6RJI3;P35556	.;FBN2_HUMAN	V	480;480;447	ENSP00000262464:G480V;ENSP00000424571:G480V;ENSP00000425596:G447V	ENSP00000262464:G480V	G	-	2	0	FBN2	127756753	1.000000	0.71417	0.991000	0.47740	0.164000	0.22412	3.808000	0.55598	2.516000	0.84829	0.563000	0.77884	GGA		0.512	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		18	77	1	0	9.7654e-05	0.007413	0.000105501	18	77				
TRPC7	57113	broad.mit.edu	37	5	135651315	135651315	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:135651315G>T	ENST00000513104.1	-	3	1215	c.933C>A	c.(931-933)atC>atA	p.I311I	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	311					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I311I(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCGAGTTTGATCCGGCTCA	0.517																																							uc003lbn.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(928-930)ATC>ATA		transient receptor potential cation channel,							86.0	89.0	88.0					5																	135651315		1967	4162	6129	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135651315G>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.933C>A	5.37:g.135651315G>T						TRPC7_uc010jef.1_Silent_p.I302I|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	p.I310I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	933	-			311			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.930C>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.571	1.120971	0.20877	.	.	ENSG00000069018	ENST00000502753	.	.	.	5.64	4.77	0.60923	.	.	.	.	.	T	0.56124	0.1964	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54970	-0.8213	4	.	.	.	-26.1008	6.4046	0.21658	0.1582:0.0:0.6921:0.1496	.	.	.	.	K	311	.	.	Q	-	1	0	TRPC7	135679214	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.390000	0.20768	1.623000	0.50342	0.650000	0.86243	CAA		0.517	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		7	23	1	0	1.12685e-05	0.004482	1.25378e-05	7	23				
ANKHD1	54882	broad.mit.edu	37	5	139909060	139909060	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:139909060G>T	ENST00000360839.2	+	29	6683	c.6529G>T	c.(6529-6531)Gtg>Ttg	p.V2177L	ANKHD1_ENST00000297183.6_Missense_Mutation_p.V2177L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V2177L|ANKHD1_ENST00000544120.1_Missense_Mutation_p.V560L|SNORD45_ENST00000363181.1_RNA	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2177						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V2177L(4)		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)			ACCAGCTGCAGTGCAGCTTTC	0.443																																							uc003lfs.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)	6						c.(6529-6531)GTG>TTG		ANKHD1-EIF4EBP3 protein							134.0	135.0	135.0					5																	139909060		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139909060G>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.6529G>T	5.37:g.139909060G>T	ENSP00000354085:p.Val2177Leu					ANKHD1_uc003lfr.2_Missense_Mutation_p.V2177L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.V916L|ANKHD1_uc003lfw.2_Missense_Mutation_p.V815L|ANKHD1_uc010jfl.2_Missense_Mutation_p.V612L|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.V314L	p.V2177L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6653	+			2177					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.6529G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.17|12.17	1.857839|1.857839	0.32791|0.32791	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|T;T;T;T;T;T;T	.|0.68624	.|-0.28;-0.34;1.81;1.79;1.37;-0.34;0.8	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.160277	.|0.43110	.|D	.|0.000604	T|T	0.60560|0.60560	0.2278|0.2278	L|L	0.37630|0.37630	1.12|1.12	0.44702|0.44702	D|D	0.997696|0.997696	.|B;B;B;P;B;B	.|0.34662	.|0.324;0.131;0.28;0.462;0.435;0.131	.|B;B;B;B;B;B	.|0.34489	.|0.085;0.12;0.184;0.091;0.057;0.168	T|T	0.60667|0.60667	-0.7218|-0.7218	5|10	.|0.44086	.|T	.|0.13	.|.	19.2495|19.2495	0.93917|0.93917	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|560;607;560;2177;2177;2177	.|Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	I|L	667;627|2177;2177;2177;833;699;560;2177;188	.|ENSP00000354085:V2177L;ENSP00000297183:V2177L;ENSP00000393204:V833L;ENSP00000390034:V699L;ENSP00000437687:V560L;ENSP00000432016:V2177L;ENSP00000396882:V188L	.|ENSP00000396882:V188L	S|V	+|+	2|1	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139889244|139889244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	6.605000|6.605000	0.74155|0.74155	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	AGT|GTG		0.443	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		25	99	1	0	4.26978e-12	0.00333	5.40045e-12	25	99				
PCDHA4	56144	broad.mit.edu	37	5	140189081	140189081	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140189081T>C	ENST00000530339.1	+	1	2309	c.2309T>C	c.(2308-2310)aTg>aCg	p.M770T	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.M770T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.M770T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	770	6 X 4 AA repeats of P-X-X-P.				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)	p.M770T(4)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGACCTCATGGCCTTCAGC	0.562																																							uc003lhi.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(2)	6						c.(2308-2310)ATG>ACG		protocadherin alpha 4 isoform 1 precursor							120.0	126.0	124.0					5																	140189081		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140189081T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2309T>C	5.37:g.140189081T>C	ENSP00000435300:p.Met770Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.M770T|PCDHA4_uc011daa.1_Missense_Mutation_p.M770T	p.M770T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2410	+			770			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2309T>C	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	t	14.59	2.579880	0.46006	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.17370	2.28;2.28;2.28	3.83	3.83	0.44106	.	0.130004	0.34156	U	0.004215	T	0.46718	0.1407	H	0.94582	3.555	0.24151	N	0.995696	D;D;B	0.63046	0.985;0.992;0.209	D;P;B	0.63283	0.913;0.811;0.137	T	0.48592	-0.9022	10	0.62326	D	0.03	.	9.3052	0.37870	0.0:0.0909:0.0:0.9091	.	770;770;770	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	770	ENSP00000423470:M770T;ENSP00000349344:M770T;ENSP00000435300:M770T	ENSP00000349344:M770T	M	+	2	0	PCDHA4	140169265	0.999000	0.42202	0.999000	0.59377	0.736000	0.42039	2.229000	0.42990	1.521000	0.48983	0.397000	0.26171	ATG		0.562	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		25	74	0	0	0	0.003954	0	25	74				
PCDHAC1	56135	broad.mit.edu	37	5	140308879	140308879	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140308879G>A	ENST00000253807.2	+	1	2402	c.2402G>A	c.(2401-2403)aGg>aAg	p.R801K	PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R801K|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	801					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)	p.R801K(2)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGGAATAGGAAAGGGGAT	0.448																																							uc003lih.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(2401-2403)AGG>AAG		protocadherin alpha subfamily C, 1 isoform 1							117.0	110.0	113.0					5																	140308879		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140308879G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2402G>A	5.37:g.140308879G>A	ENSP00000253807:p.Arg801Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R801K	p.R801K	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2578	+			801			Cytoplasmic (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2402G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865691	0.17250	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50001	0.76;2.86	5.83	5.83	0.93111	.	.	.	.	.	T	0.44561	0.1299	N	0.22421	0.69	0.22610	N	0.998939	B;D	0.62365	0.044;0.991	B;P	0.56751	0.017;0.805	T	0.24548	-1.0157	9	0.06099	T	0.92	.	13.0773	0.59093	0.0:0.0:0.7346:0.2654	.	801;801	Q9H158;Q9H158-2	PCDC1_HUMAN;.	K	801	ENSP00000386356:R801K;ENSP00000253807:R801K	ENSP00000253807:R801K	R	+	2	0	PCDHAC1	140289063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.033000	0.41136	2.757000	0.94681	0.563000	0.77884	AGG		0.448	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		15	57	0	0	0	0.006122	0	15	57				
PCDHB4	56131	broad.mit.edu	37	5	140501728	140501728	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140501728G>C	ENST00000194152.1	+	1	148	c.148G>C	c.(148-150)Gat>Cat	p.D50H	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	50	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D50H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCCAAGGATCTGGGCCT	0.542																																							uc003lip.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(148-150)GAT>CAT		protocadherin beta 4 precursor							87.0	88.0	88.0					5																	140501728		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501728G>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.148G>C	5.37:g.140501728G>C	ENSP00000194152:p.Asp50His						p.D50H	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	148	+			50			Cadherin 1.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.148G>C	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700241	0.68501	.	.	ENSG00000081818	ENST00000194152	T	0.62105	0.05	4.66	4.66	0.58398	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.81513	0.4838	H	0.94808	3.585	0.53688	D	0.999974	P	0.44281	0.831	P	0.52386	0.697	D	0.87069	0.2158	9	0.87932	D	0	.	17.7061	0.88310	0.0:0.0:1.0:0.0	.	50	Q9Y5E5	PCDB4_HUMAN	H	50	ENSP00000194152:D50H	ENSP00000194152:D50H	D	+	1	0	PCDHB4	140481912	1.000000	0.71417	0.947000	0.38551	0.672000	0.39443	9.535000	0.98064	2.570000	0.86706	0.655000	0.94253	GAT		0.542	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		8	59	0	0	0	0.00308	0	8	59				
PCDHB5	26167	broad.mit.edu	37	5	140515957	140515957	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140515957A>C	ENST00000231134.5	+	1	1158	c.941A>C	c.(940-942)tAt>tCt	p.Y314S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y314S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCATATTATAACGTGGAA	0.453																																							uc003liq.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(940-942)TAT>TCT		protocadherin beta 5 precursor							92.0	101.0	98.0					5																	140515957		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515957A>C	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.941A>C	5.37:g.140515957A>C	ENSP00000231134:p.Tyr314Ser						p.Y314S	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1158	+			314			Cadherin 3.|Extracellular (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.941A>C	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487657	0.64074	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.70045	-0.45	5.3	5.3	0.74995	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.90103	0.6908	H	0.99682	4.7	0.40078	D	0.976099	D	0.71674	0.998	D	0.76071	0.987	D	0.94830	0.7995	9	0.87932	D	0	.	15.5311	0.75964	1.0:0.0:0.0:0.0	.	314	Q9Y5E4	PCDB5_HUMAN	S	314;98	ENSP00000231134:Y314S	ENSP00000231134:Y314S	Y	+	2	0	PCDHB5	140496141	0.691000	0.27709	0.030000	0.17652	0.990000	0.78478	3.307000	0.51888	2.139000	0.66308	0.413000	0.27773	TAT		0.453	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		25	111	0	0	0	0.007291	0	25	111				
PCDHB5	26167	broad.mit.edu	37	5	140516601	140516601	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140516601C>T	ENST00000231134.5	+	1	1802	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R529C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGAGTTCCGCGTGGGAGC	0.682																																							uc003liq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1585-1587)CGC>TGC		protocadherin beta 5 precursor							49.0	53.0	52.0					5																	140516601		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516601C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1585C>T	5.37:g.140516601C>T	ENSP00000231134:p.Arg529Cys						p.R529C	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1802	+			529			Extracellular (Potential).|Cadherin 5.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1585C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268519	0.40095	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.01767	4.65	4.59	-7.75	0.01236	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.04815	0.0130	L	0.48260	1.515	0.09310	N	1	D	0.65815	0.995	D	0.65140	0.932	T	0.02484	-1.1152	9	0.54805	T	0.06	.	13.5169	0.61545	0.2747:0.1341:0.5912:0.0	.	529	Q9Y5E4	PCDB5_HUMAN	C	529;313	ENSP00000231134:R529C	ENSP00000231134:R529C	R	+	1	0	PCDHB5	140496785	0.000000	0.05858	0.299000	0.25016	0.807000	0.45602	-3.389000	0.00488	-0.955000	0.03636	0.430000	0.28490	CGC		0.682	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		27	77	0	0	0	0.004656	0	27	77				
PCDHB8	56128	broad.mit.edu	37	5	140558439	140558439	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140558439A>G	ENST00000239444.2	+	1	1069	c.824A>G	c.(823-825)aAc>aGc	p.N275S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N275S(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGAGTCAACGGAGAGATT	0.423																																							uc011dai.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)	4						c.(823-825)AAC>AGC		protocadherin beta 8 precursor							177.0	241.0	220.0					5																	140558439		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558439A>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.824A>G	5.37:g.140558439A>G	ENSP00000239444:p.Asn275Ser					PCDHB16_uc003liv.2_5'Flank	p.N275S	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1010	+			275			Cadherin 3.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.824A>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809899	0.31961	.	.	ENSG00000120322	ENST00000239444	T	0.60040	0.22	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72993	0.3530	M	0.91038	3.17	0.09310	N	1	P	0.42203	0.773	P	0.48334	0.574	T	0.67688	-0.5606	9	0.54805	T	0.06	.	13.0458	0.58925	1.0:0.0:0.0:0.0	.	275	Q9UN66	PCDB8_HUMAN	S	275	ENSP00000239444:N275S	ENSP00000239444:N275S	N	+	2	0	PCDHB8	140538623	0.991000	0.36638	0.004000	0.12327	0.351000	0.29236	6.271000	0.72569	1.558000	0.49541	0.477000	0.44152	AAC		0.423	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		30	78	0	0	0	0.007291	0	30	78				
PCDHB8	56128	broad.mit.edu	37	5	140559471	140559471	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140559471G>T	ENST00000239444.2	+	1	2101	c.1856G>T	c.(1855-1857)tGg>tTg	p.W619L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	619	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGTGTGTGGGCGCACAAT	0.692																																							uc011dai.1		NA																	0				skin(4)	4						c.(1855-1857)TGG>TTG		protocadherin beta 8 precursor							16.0	19.0	18.0					5																	140559471		1815	3753	5568	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559471G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1856G>T	5.37:g.140559471G>T	ENSP00000239444:p.Trp619Leu					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.W619L	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2042	+			619			Cadherin 6.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1856G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408672	0.42715	.	.	ENSG00000120322	ENST00000239444	T	0.50548	0.74	4.22	3.35	0.38373	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.57873	0.2083	L	0.41236	1.265	0.33800	D	0.626549	P	0.34562	0.457	P	0.59171	0.853	T	0.67745	-0.5591	9	0.72032	D	0.01	.	8.4574	0.32908	0.0892:0.1555:0.7554:0.0	.	619	Q9UN66	PCDB8_HUMAN	L	619	ENSP00000239444:W619L	ENSP00000239444:W619L	W	+	2	0	PCDHB8	140539655	0.358000	0.24947	1.000000	0.80357	0.664000	0.39144	0.897000	0.28390	0.779000	0.33543	0.298000	0.19748	TGG		0.692	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		16	76	1	0	9.17885e-22	0.003271	1.24791e-21	16	76				
PCDHB16	57717	broad.mit.edu	37	5	140567886	140567886	+	IGR	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140567886A>T	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAGATGTACAGTTTTGAT	0.368																																							uc003liw.1		NA																	0					0						c.(994-996)ACA>TCA		protocadherin beta 9 precursor							64.0	67.0	66.0					5																	140567886		2055	4252	6307	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567886A>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567886A>T							p.T332S	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	994	+			332			Extracellular (Potential).|Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.994A>T	CCDS4251.1																																																																																				0.368	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		7	30	0	0	0	0.00308	0	7	30				
SLC25A2	83884	broad.mit.edu	37	5	140683365	140683366	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140683365_140683366CA>TT	ENST00000239451.4	-	1	246_247	c.67_68TG>AA	c.(67-69)TGt>AAt	p.C23N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	23					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.C23N(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AGTCAGTACACACGCTGTCCCC	0.599																																							uc003ljf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)TGT>AAT		solute carrier family 25 member 2	L-Ornithine(DB00129)																																			SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683365_140683366CA>TT	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.67_68delinsTT	5.37:g.140683365_140683366delinsTT	ENSP00000239451:p.Cys23Asn						p.C23N	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	247_248	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	23			Helical; Name=1; (Potential).|Solcar 1.		Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	DNP	ENST00000239451.4	37	c.67_68TG>AA	CCDS4258.1																																																																																				0.599	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		8	50	0	0	0	0.004672	0	8	50				
PCDHGB3	56102	broad.mit.edu	37	5	140751805	140751805	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140751805G>T	ENST00000576222.1	+	1	1975	c.1844G>T	c.(1843-1845)gGg>gTg	p.G615V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGCCCGGGCTGTTCAGC	0.687																																							uc003ljw.1		NA																	0					0						c.(1843-1845)GGG>GTG		protocadherin gamma subfamily B, 3 isoform 1							46.0	54.0	51.0					5																	140751805		2200	4292	6492	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751805G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1844G>T	5.37:g.140751805G>T	ENSP00000461862:p.Gly615Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.G615V|PCDHGA6_uc011dau.1_5'Flank	p.G615V	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1844	+			615			Extracellular (Potential).|Cadherin 6.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1844G>T	CCDS58980.1																																																																																				0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		16	88	1	0	1.15088e-07	0.004007	1.34873e-07	16	88				
PCDHGA7	56108	broad.mit.edu	37	5	140762481	140762481	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140762481G>C	ENST00000518325.1	+	1	15	c.15G>C	c.(13-15)ccG>ccC	p.P5P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	5					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P5P(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCAGCCGAGGGGCGGGG	0.612											OREG0016858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003lka.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)CCG>CCC		protocadherin gamma subfamily A, 7 isoform 1							57.0	68.0	64.0					5																	140762481		1882	4106	5988	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762481G>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.15G>C	5.37:g.140762481G>C			OREG0016858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.P5P	p.P5P	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	15	+			5					B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.15G>C	CCDS54927.1																																																																																				0.612	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		13	86	0	0	0	0.004007	0	13	86				
PCDHGB6	56100	broad.mit.edu	37	5	140788971	140788971	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140788971A>T	ENST00000520790.1	+	1	1202	c.1202A>T	c.(1201-1203)tAc>tTc	p.Y401F	PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y401F(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAATAACTACTACAAACTG	0.458																																							uc003lkj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1201-1203)TAC>TTC		protocadherin gamma subfamily B, 6 isoform 1							55.0	58.0	57.0					5																	140788971		1945	4157	6102	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788971A>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1202A>T	5.37:g.140788971A>T	ENSP00000428603:p.Tyr401Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.Y401F	p.Y401F	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1202	+			401			Extracellular (Potential).|Cadherin 4.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1202A>T	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	10.47	1.358892	0.24598	.	.	ENSG00000253305	ENST00000520790	T	0.20069	2.1	5.36	4.17	0.49024	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19644	0.0472	L	0.39326	1.205	0.22185	N	0.999304	B;B	0.20459	0.045;0.02	B;B	0.29598	0.104;0.044	T	0.23297	-1.0192	9	0.36615	T	0.2	.	9.2563	0.37586	0.6881:0.0:0.0:0.3119	.	401;401	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	F	401	ENSP00000428603:Y401F	ENSP00000428603:Y401F	Y	+	2	0	PCDHGB6	140769155	0.000000	0.05858	0.997000	0.53966	0.797000	0.45037	0.556000	0.23438	0.828000	0.34709	0.460000	0.39030	TAC		0.458	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		13	33	0	0	0	0.013537	0	13	33				
PCDHGB6	56100	broad.mit.edu	37	5	140789165	140789165	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140789165C>G	ENST00000520790.1	+	1	1396	c.1396C>G	c.(1396-1398)Ccg>Gcg	p.P466A	PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P466A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGAACAACCCGCCAGGAGC	0.567																																							uc003lkj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1396-1398)CCG>GCG		protocadherin gamma subfamily B, 6 isoform 1							39.0	45.0	43.0					5																	140789165		2099	4217	6316	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789165C>G	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1396C>G	5.37:g.140789165C>G	ENSP00000428603:p.Pro466Ala					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.P466A	p.P466A	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1396	+			466			Extracellular (Potential).|Cadherin 5.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1396C>G	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	7.778	0.708846	0.15239	.	.	ENSG00000253305	ENST00000520790	T	0.54071	0.59	5.35	4.43	0.53597	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.52917	0.1764	L	0.49640	1.575	0.09310	N	1	P;P	0.38535	0.635;0.474	P;B	0.44811	0.461;0.444	T	0.44236	-0.9341	9	0.35671	T	0.21	.	11.3562	0.49617	0.1391:0.726:0.1349:0.0	.	466;466	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	A	466	ENSP00000428603:P466A	ENSP00000428603:P466A	P	+	1	0	PCDHGB6	140769349	0.000000	0.05858	0.785000	0.31869	0.011000	0.07611	0.409000	0.21082	2.506000	0.84524	0.563000	0.77884	CCG		0.567	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		10	44	0	0	0	0.006214	0	10	44				
PCDHGA12	26025	broad.mit.edu	37	5	140811320	140811320	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140811320A>G	ENST00000252085.3	+	1	1136	c.994A>G	c.(994-996)Aaa>Gaa	p.K332E	PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K332E(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGCCAAAGTCCTGAT	0.517																																							uc003lkt.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(1)|skin(1)	4						c.(994-996)AAA>GAA		protocadherin gamma subfamily A, 12 isoform 1							134.0	125.0	128.0					5																	140811320		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811320A>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.994A>G	5.37:g.140811320A>G	ENSP00000252085:p.Lys332Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.K332E	p.K332E	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1163	+			332			Cadherin 3.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.994A>G	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	a	16.59	3.165891	0.57476	.	.	ENSG00000253159	ENST00000252085	T	0.01725	4.67	4.36	4.36	0.52297	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05777	0.0151	M	0.73430	2.235	0.23243	N	0.998053	P;P	0.49185	0.768;0.92	B;P	0.48524	0.331;0.58	T	0.12372	-1.0550	9	0.72032	D	0.01	.	13.4098	0.60935	1.0:0.0:0.0:0.0	.	332;332	O60330-2;O60330	.;PCDGC_HUMAN	E	332	ENSP00000252085:K332E	ENSP00000252085:K332E	K	+	1	0	PCDHGA12	140791504	0.002000	0.14202	1.000000	0.80357	0.996000	0.88848	1.321000	0.33678	1.835000	0.53391	0.533000	0.62120	AAA		0.517	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		22	76	0	0	0	0.00278	0	22	76				
PCDHGC4	56098	broad.mit.edu	37	5	140864842	140864842	+	Silent	SNP	G	G	T	rs77402299		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:140864842G>T	ENST00000306593.1	+	1	102	c.102G>T	c.(100-102)ccG>ccT	p.P34P	PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	34	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P34P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCTACCCGGTCCCAGAGG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17953	0.0		0.0	False		,,,				2504	0.001						uc003lky.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(100-102)CCG>CCT		protocadherin gamma subfamily C, 4 isoform 1							66.0	68.0	67.0					5																	140864842		2203	4300	6503	SO:0001819	synonymous_variant	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140864842G>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.102G>T	5.37:g.140864842G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.P34P	p.P34P	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	102	+			34			Cadherin 1.|Extracellular (Potential).		Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.102G>T	CCDS4262.1																																																																																				0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		15	56	1	0	1.15088e-07	0.004007	1.34873e-07	15	56				
PCDH1	5097	broad.mit.edu	37	5	141233739	141233739	+	Missense_Mutation	SNP	G	G	C	rs538122125	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:141233739G>C	ENST00000287008.3	-	5	3729	c.3582C>G	c.(3580-3582)ttC>ttG	p.F1194L	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1194L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TACTGTGGGAGAAGGCACTGT	0.677																																					Ovarian(132;1609 1739 4190 14731 45037)	Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3580-3582)TTC>TTG		protocadherin 1 isoform 2 precursor							34.0	36.0	35.0					5																	141233739		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233739G>C	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3582C>G	5.37:g.141233739G>C	ENSP00000287008:p.Phe1194Leu						p.F1194L	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3699	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3582C>G	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236003	0.39498	.	.	ENSG00000156453	ENST00000287008	T	0.60424	0.19	5.22	4.36	0.52297	.	0.000000	0.42548	U	0.000699	T	0.46852	0.1414	L	0.46157	1.445	0.80722	D	1	B	0.32071	0.355	B	0.29077	0.098	T	0.47142	-0.9140	10	0.49607	T	0.09	.	8.3594	0.32351	0.1796:0.0:0.8204:0.0	.	1194	Q08174-2	.	L	1194	ENSP00000287008:F1194L	ENSP00000287008:F1194L	F	-	3	2	PCDH1	141213923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.759000	0.47573	1.344000	0.45657	0.448000	0.29417	TTC		0.677	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		6	15	0	0	0	0.001168	0	6	15				
KIAA0141	9812	broad.mit.edu	37	5	141318258	141318258	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:141318258C>T	ENST00000432126.2	+	12	1616	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	KIAA0141_ENST00000194118.4_Silent_p.S494S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	494					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)		p.S494S(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGCCTCCAGCAGGGCTA	0.567																																							uc003lls.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1480-1482)TCC>TCT		hypothetical protein LOC9812 precursor							87.0	87.0	87.0					5																	141318258		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141318258C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1482C>T	5.37:g.141318258C>T						KIAA0141_uc003llt.2_Silent_p.S494S|KIAA0141_uc003llu.1_RNA	p.S494S	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1604	+		all_hematologic(541;0.118)	494			TPR 7.		Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.1482C>T	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	C	4.820	0.152463	0.09185	.	.	ENSG00000081791	ENST00000507481	.	.	.	5.22	0.0579	0.14325	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24512	-1.0158	4	.	.	.	-4.5504	3.3796	0.07249	0.1783:0.4261:0.0:0.3956	.	.	.	.	L	196	.	.	P	+	2	0	KIAA0141	141298442	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.142000	0.16096	0.083000	0.17047	0.655000	0.94253	CCA		0.567	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		11	103	0	0	0	0.010729	0	11	103				
LARS	51520	broad.mit.edu	37	5	145537160	145537160	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:145537160C>A	ENST00000394434.2	-	10	1037	c.871G>T	c.(871-873)Gct>Tct	p.A291S	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Missense_Mutation_p.A237S|LARS_ENST00000274562.9_Missense_Mutation_p.A264S|LARS_ENST00000545646.1_Missense_Mutation_p.A245S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	291	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.A291S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGAGTAGCAGCCACCAAGAAA	0.373																																							uc003lnx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(871-873)GCT>TCT		leucyl-tRNA synthetase	L-Leucine(DB00149)						57.0	52.0	54.0					5																	145537160		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145537160C>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.871G>T	5.37:g.145537160C>A	ENSP00000377954:p.Ala291Ser					LARS_uc011dbq.1_Missense_Mutation_p.A245S|LARS_uc011dbr.1_Missense_Mutation_p.A237S|LARS_uc011dbs.1_Missense_Mutation_p.A264S	p.A291S	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1109	-			291			Editing domain.		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.871G>T	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272998	0.59649	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.5	4.63	0.57726	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.109591	0.64402	D	0.000010	D	0.89808	0.6822	H	0.94385	3.53	0.80722	D	1	B;P;P	0.40731	0.258;0.728;0.584	P;P;P	0.54140	0.662;0.618;0.743	D	0.91890	0.5523	10	0.56958	D	0.05	-11.7708	16.6349	0.85050	0.0:0.8698:0.1302:0.0	.	264;245;291	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	S	291;245;237;264	ENSP00000377954:A291S;ENSP00000437791:A245S;ENSP00000426005:A237S;ENSP00000274562:A264S	ENSP00000274562:A264S	A	-	1	0	LARS	145517353	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	7.765000	0.85310	1.450000	0.47717	-0.175000	0.13238	GCT		0.373	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		7	21	1	0	2.0095e-06	0.001984	2.28488e-06	7	21				
LARS	51520	broad.mit.edu	37	5	145537167	145537167	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:145537167G>A	ENST00000394434.2	-	10	1030	c.864C>T	c.(862-864)ttC>ttT	p.F288F	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Silent_p.F234F|LARS_ENST00000274562.9_Silent_p.F261F|LARS_ENST00000545646.1_Silent_p.F242F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	288	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.F288F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGCCACCAAGAAAATATTTT	0.378																																							uc003lnx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)TTC>TTT		leucyl-tRNA synthetase	L-Leucine(DB00149)						50.0	47.0	48.0					5																	145537167		2203	4300	6503	SO:0001819	synonymous_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145537167G>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.864C>T	5.37:g.145537167G>A						LARS_uc011dbq.1_Silent_p.F242F|LARS_uc011dbr.1_Silent_p.F234F|LARS_uc011dbs.1_Silent_p.F261F	p.F288F	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1102	-			288			Editing domain.		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	c.864C>T	CCDS34265.1																																																																																				0.378	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		6	19	0	0	0	0.001168	0	6	19				
ARHGEF37	389337	broad.mit.edu	37	5	149001437	149001437	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149001437A>T	ENST00000333677.6	+	9	1310	c.1147A>T	c.(1147-1149)Agt>Tgt	p.S383C		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	383	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S383C(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGAGGTGGGCAGTGTGACCTA	0.592																																							uc003lra.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1147-1149)AGT>TGT		hypothetical protein LOC389337							67.0	80.0	76.0					5																	149001437		2093	4218	6311	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149001437A>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1147A>T	5.37:g.149001437A>T	ENSP00000328083:p.Ser383Cys						p.S383C	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			9	1211	+			383			BAR.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1147A>T	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211449	0.79240	.	.	ENSG00000183111	ENST00000333677	T	0.60672	0.17	5.96	5.96	0.96718	BAR (2);	0.129665	0.56097	D	0.000040	T	0.70430	0.3223	L	0.60455	1.87	0.48901	D	0.999722	D	0.89917	1.0	D	0.79108	0.992	T	0.73104	-0.4088	10	0.72032	D	0.01	-3.8908	10.4588	0.44567	0.9273:0.0:0.0727:0.0	.	383	A1IGU5	ARH37_HUMAN	C	383	ENSP00000328083:S383C	ENSP00000328083:S383C	S	+	1	0	ARHGEF37	148981630	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.118000	0.71583	2.285000	0.76669	0.533000	0.62120	AGT		0.592	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		21	58	0	0	0	0.00278	0	21	58				
PDE6A	5145	broad.mit.edu	37	5	149274852	149274852	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149274852G>T	ENST00000255266.5	-	13	1741	c.1622C>A	c.(1621-1623)gCc>gAc	p.A541D		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	541					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.A541D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CCGCACCAGGGCCTGTGAACA	0.542																																							uc003lrg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1621-1623)GCC>GAC		phosphodiesterase 6A							114.0	84.0	94.0					5																	149274852		2203	4300	6503	SO:0001630	splice_region_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149274852G>T		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1621-1C>A	5.37:g.149274852G>T							p.A541D	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		13	1742	-			541					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1622C>A	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553669	0.45487	.	.	ENSG00000132915	ENST00000255266	T	0.77098	-1.07	5.28	4.41	0.53225	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.240414	0.41396	D	0.000881	T	0.68742	0.3034	L	0.41236	1.265	0.29987	N	0.817248	B	0.27068	0.167	B	0.29598	0.104	T	0.68750	-0.5326	10	0.87932	D	0	.	8.651	0.34035	0.175:0.0:0.825:0.0	.	541	P16499	PDE6A_HUMAN	D	541	ENSP00000255266:A541D	ENSP00000255266:A541D	A	-	2	0	PDE6A	149255045	0.790000	0.28787	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	1.372000	0.46190	0.650000	0.86243	GCC		0.542	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2		Missense_Mutation	7	36	1	0	0.00198382	0.001984	0.00206488	7	36				
CSF1R	1436	broad.mit.edu	37	5	149433914	149433914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149433914C>A	ENST00000286301.3	-	21	3025	c.2734G>T	c.(2734-2736)Gag>Tag	p.E912*		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	912					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.E912*(4)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGGCCTGCTCCTGAAGGAAG	0.612																																							uc003lrl.2		NA																	4	Substitution - Nonsense(4)		lung(4)	haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(2734-2736)GAG>TAG		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						70.0	60.0	63.0					5																	149433914		2203	4300	6503	SO:0001587	stop_gained	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149433914C>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2734G>T	5.37:g.149433914C>A	ENSP00000286301:p.Glu912*					CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Nonsense_Mutation_p.E912*	p.E912*	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		20	2929	-			912			Cytoplasmic (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Nonsense_Mutation	SNP	ENST00000286301.3	37	c.2734G>T	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	41	8.966583	0.99019	.	.	ENSG00000182578	ENST00000286301	.	.	.	5.42	1.68	0.24146	.	0.473099	0.19445	N	0.114094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	8.474	0.33001	0.0:0.4524:0.0:0.5476	.	.	.	.	X	912	.	ENSP00000286301:E912X	E	-	1	0	CSF1R	149414107	1.000000	0.71417	0.915000	0.36163	0.763000	0.43281	1.788000	0.38714	0.023000	0.15187	0.563000	0.77884	GAG		0.612	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		21	75	1	0	1.9806e-07	0.014323	2.31548e-07	21	75				
TCOF1	6949	broad.mit.edu	37	5	149749093	149749093	+	Splice_Site	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:149749093G>A	ENST00000504761.2	+	6	567	c.567G>A	c.(565-567)ggG>ggA	p.G189G	TCOF1_ENST00000451292.1_Splice_Site_p.G189G|TCOF1_ENST00000439160.2_Splice_Site_p.G189G|TCOF1_ENST00000377797.3_Splice_Site_p.G189G|TCOF1_ENST00000323668.7_Splice_Site_p.G189G|TCOF1_ENST00000445265.2_Splice_Site_p.G189G|TCOF1_ENST00000513346.1_Splice_Site_p.G189G|TCOF1_ENST00000394269.3_Splice_Site_p.G189G			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	189					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.G189G(4)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCCTCAGGGATGGTGTCAG	0.627																																							uc003lry.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|large_intestine(1)	3						c.(565-567)GGG>GGA		Treacher Collins-Franceschetti syndrome 1							86.0	76.0	80.0					5																	149749093		2203	4300	6503	SO:0001630	splice_region_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149749093G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.566-1G>A	5.37:g.149749093G>A						TCOF1_uc003lrw.2_Silent_p.G189G|TCOF1_uc011dch.1_Silent_p.G189G|TCOF1_uc003lrz.2_Silent_p.G189G|TCOF1_uc003lrx.2_Silent_p.G189G|TCOF1_uc003lsa.2_Silent_p.G189G	p.G189G	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	675	+		all_hematologic(541;0.224)	189					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.567G>A	CCDS54936.1																																																																																				0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656	Silent	16	49	0	0	0	0.007413	0	16	49				
FAT2	2196	broad.mit.edu	37	5	150924904	150924904	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:150924904C>A	ENST00000261800.5	-	9	5796	c.5784G>T	c.(5782-5784)ctG>ctT	p.L1928L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1928					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1928L(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGGATTCAGCACAGATA	0.478																																							uc003lue.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5782-5784)CTG>CTT		FAT tumor suppressor 2 precursor							117.0	120.0	119.0					5																	150924904		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924904C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5784G>T	5.37:g.150924904C>A						GM2A_uc011dcs.1_Intron	p.L1928L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5797	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1928			Extracellular (Potential).		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.5784G>T	CCDS4317.1																																																																																				0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		25	85	1	0	1.64293e-13	0.00333	2.1111e-13	25	85				
G3BP1	10146	broad.mit.edu	37	5	151170615	151170615	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:151170615G>T	ENST00000394123.3	+	4	488	c.343G>T	c.(343-345)Gct>Tct	p.A115S	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.A115S			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	115	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.A115S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTTTGTCCTTGCTCCTGAGGT	0.393																																							uc003lun.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(343-345)GCT>TCT		Ras-GTPase-activating protein SH3-domain-binding							257.0	232.0	240.0					5																	151170615		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151170615G>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.343G>T	5.37:g.151170615G>T	ENSP00000377681:p.Ala115Ser					G3BP1_uc010jhy.1_Missense_Mutation_p.A115S|G3BP1_uc003lum.2_Missense_Mutation_p.A115S|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	p.A115S	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	514	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	115			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.343G>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189509	0.94923	.	.	ENSG00000145907	ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878	T;T	0.79033	-1.23;-1.23	4.69	4.69	0.59074	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	H	0.95780	3.72	0.80722	D	1	D;P	0.64830	0.994;0.646	D;P	0.79784	0.993;0.66	D	0.94367	0.7592	9	.	.	.	-9.9882	17.9837	0.89150	0.0:0.0:1.0:0.0	.	115;115	E5RJU8;Q13283	.;G3BP1_HUMAN	S	115;115;115;125	ENSP00000377681:A115S;ENSP00000348578:A115S	.	A	+	1	0	G3BP1	151150808	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.636000	0.98440	2.313000	0.78055	0.455000	0.32223	GCT		0.393	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		8	36	1	0	5.18039e-06	0.00308	5.81293e-06	8	36				
GALNT10	55568	broad.mit.edu	37	5	153796519	153796519	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:153796519T>G	ENST00000297107.6	+	12	1936	c.1799T>G	c.(1798-1800)tTc>tGc	p.F600C	GALNT10_ENST00000377657.3_Missense_Mutation_p.F273C|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F538C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	600					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F600C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TTGGAAAAATTCAATAGGAAC	0.542																																							uc003lvh.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1798-1800)TTC>TGC		GalNAc transferase 10 isoform a							117.0	112.0	114.0					5																	153796519		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153796519T>G	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1799T>G	5.37:g.153796519T>G	ENSP00000297107:p.Phe600Cys					GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.F441C|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.F271C	p.F600C	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		12	1931	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	600			Lumenal (Potential).		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1799T>G	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269408	0.80469	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.62941	0.38;0.48;-0.01	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	M	0.78049	2.395	0.80722	D	1	D;D;D	0.69078	0.996;0.991;0.997	D;P;P	0.64595	0.927;0.605;0.639	T	0.81504	-0.0903	10	0.72032	D	0.01	.	15.7905	0.78357	0.0:0.0:0.0:1.0	.	538;271;600	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	C	600;538;273	ENSP00000297107:F600C;ENSP00000366889:F538C;ENSP00000366885:F273C	ENSP00000297107:F600C	F	+	2	0	GALNT10	153776712	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.516000	0.81772	2.127000	0.65507	0.528000	0.53228	TTC		0.542	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		19	59	0	0	0	0.007413	0	19	59				
HAVCR1	26762	broad.mit.edu	37	5	156482498	156482498	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:156482498A>G	ENST00000339252.3	-	2	625	c.93T>C	c.(91-93)tcT>tcC	p.S31S	HAVCR1_ENST00000523175.1_Silent_p.S31S|HAVCR1_ENST00000522693.1_Silent_p.S31S|HAVCR1_ENST00000425854.1_Silent_p.S31S|HAVCR1_ENST00000544197.1_Silent_p.S31S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.S31S(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTAGTGTGACAGATGGACCTG	0.468																																							uc010jij.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(91-93)TCT>TCC		hepatitis A virus cellular receptor 1							47.0	50.0	49.0					5																	156482498		1957	4151	6108	SO:0001819	synonymous_variant	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482498A>G	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.93T>C	5.37:g.156482498A>G						HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Silent_p.S31S|HAVCR1_uc011ddm.1_Silent_p.S31S	p.S31S	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	278	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	31			Extracellular (Potential).|Ig-like V-type.		O43656	Silent	SNP	ENST00000339252.3	37	c.93T>C	CCDS43392.1																																																																																				0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			4	15	0	0	0	0.000602	0	4	15				
THG1L	54974	broad.mit.edu	37	5	157158442	157158442	+	5'UTR	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:157158442G>A	ENST00000231198.7	+	0	238					NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)						protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTTTCCGCGTGTAGAATGT	0.562																																							uc003lxd.2		NA																	0					0						c.(-8--4)GCGTG>GCATG		interphase cytoplasmic foci protein 45							99.0	95.0	97.0					5																	157158442		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157158442G>A	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.-7G>A	5.37:g.157158442G>A						THG1L_uc011ddu.1_Translation_Start_Site		NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	120	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)						D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Translation_Start_Site	SNP	ENST00000231198.7	37	c.-6G>A	CCDS4341.1																																																																																				0.562	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		11	29	0	0	0	0.010729	0	11	29				
DOCK2	1794	broad.mit.edu	37	5	169267790	169267790	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:169267790C>G	ENST00000256935.8	+	27	2813	c.2733C>G	c.(2731-2733)atC>atG	p.I911M	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.I403M|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	911					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.I911M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCAGGAGATCATGGTCCAGC	0.473																																							uc003maf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(2731-2733)ATC>ATG		dedicator of cytokinesis 2							141.0	115.0	124.0					5																	169267790		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169267790C>G	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2733C>G	5.37:g.169267790C>G	ENSP00000256935:p.Ile911Met					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.I403M	p.I911M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	2813	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	911					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2733C>G	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497773	0.64186	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.24350	1.86;1.86;1.86	5.37	3.53	0.40419	.	0.048513	0.85682	D	0.000000	T	0.22205	0.0535	L	0.56340	1.77	0.80722	D	1	B;B	0.34103	0.437;0.077	B;B	0.35353	0.201;0.05	T	0.04991	-1.0913	10	0.56958	D	0.05	.	4.3778	0.11279	0.1758:0.6238:0.0:0.2004	.	403;911	E7ERW7;Q92608	.;DOCK2_HUMAN	M	911;292;403;115	ENSP00000256935:I911M;ENSP00000429283:I403M;ENSP00000428841:I115M	ENSP00000256935:I911M	I	+	3	3	DOCK2	169200368	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.490000	0.22403	0.580000	0.29522	0.650000	0.86243	ATC		0.473	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		3	30	0	0	0	0.004672	0	3	30				
NKX2-5	1482	broad.mit.edu	37	5	172659655	172659655	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:172659655C>A	ENST00000329198.4	-	2	1165	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	298					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G298W(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCAAGTCCCCGACGCCGAAG	0.667																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	Esophageal Squamous(72;810 1219 2387 13420 44943)	uc003mcm.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(892-894)GGG>TGG		NK2 transcription factor related, locus 5							32.0	34.0	34.0					5																	172659655		2203	4299	6502	SO:0001583	missense	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172659655C>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.892G>T	5.37:g.172659655C>A	ENSP00000327758:p.Gly298Trp						p.G298W	NM_004387	NP_004378	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1068	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	298					A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	c.892G>T	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666754	0.67814	.	.	ENSG00000183072	ENST00000329198	D	0.91843	-2.92	4.26	3.39	0.38822	.	0.284400	0.25584	N	0.029676	D	0.95149	0.8428	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94160	0.7413	10	0.42905	T	0.14	.	12.2077	0.54361	0.0:0.9167:0.0:0.0833	.	298	P52952	NKX25_HUMAN	W	298	ENSP00000327758:G298W	ENSP00000327758:G298W	G	-	1	0	NKX2-5	172592261	0.997000	0.39634	1.000000	0.80357	0.882000	0.50991	3.742000	0.55097	1.008000	0.39264	0.542000	0.68232	GGG		0.667	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			11	37	1	0	3.07112e-06	0.010729	3.46216e-06	11	37				
HRH2	3274	broad.mit.edu	37	5	175111256	175111256	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:175111256G>C	ENST00000231683.2	+	1	2793	c.1020G>C	c.(1018-1020)ctG>ctC	p.L340L	HRH2_ENST00000377291.2_Silent_p.L340L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	340					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	AGAAACCCCTGAAGCTCCAGG	0.592																																							uc003mdd.2		NA																	0				ovary(1)	1						c.(1018-1020)CTG>CTC		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						80.0	88.0	86.0					5																	175111256		2203	4300	6503	SO:0001819	synonymous_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111256G>C		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.1020G>C	5.37:g.175111256G>C						HRH2_uc003mdc.3_Silent_p.L340L	p.L340L	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2793	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	340			Cytoplasmic (Potential).		B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.1020G>C	CCDS4395.1																																																																																				0.592	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			9	106	0	0	0	0.006214	0	9	106				
GPRIN1	114787	broad.mit.edu	37	5	176025235	176025235	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:176025235T>A	ENST00000303991.4	-	2	1778	c.1601A>T	c.(1600-1602)aAg>aTg	p.K534M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	534					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.K534M(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAGCCGCCTTTCCAGAGGC	0.662																																							uc003meo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1600-1602)AAG>ATG		G protein-regulated inducer of neurite outgrowth							43.0	43.0	43.0					5																	176025235		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176025235T>A	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1601A>T	5.37:g.176025235T>A	ENSP00000305839:p.Lys534Met						p.K534M	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1776	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	534					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.1601A>T	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209090	0.39003	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.14640	2.49	2.85	1.6	0.23607	.	.	.	.	.	T	0.10981	0.0268	L	0.40543	1.245	0.09310	N	1	P	0.37573	0.6	B	0.36885	0.235	T	0.20907	-1.0261	9	0.56958	D	0.05	1.7822	5.6576	0.17650	0.2646:0.0:0.0:0.7354	.	534	Q7Z2K8	GRIN1_HUMAN	M	534	ENSP00000305839:K534M	ENSP00000305839:K534M	K	-	2	0	GPRIN1	175957841	0.000000	0.05858	0.009000	0.14445	0.014000	0.08584	0.352000	0.20113	0.046000	0.15833	0.370000	0.22315	AAG		0.662	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		27	60	0	0	0	0.010818	0	27	60				
CLK4	57396	broad.mit.edu	37	5	178040602	178040602	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178040602C>G	ENST00000316308.4	-	7	866	c.698G>C	c.(697-699)gGt>gCt	p.G233A		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.G233A(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		ACAAACATGACCATGATGATC	0.348																																							uc003mjf.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(697-699)GGT>GCT		CDC-like kinase 4							106.0	104.0	105.0					5																	178040602		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178040602C>G	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.698G>C	5.37:g.178040602C>G	ENSP00000316948:p.Gly233Ala					CLK4_uc003mjg.1_Missense_Mutation_p.G197A|CLK4_uc010jku.1_Missense_Mutation_p.G53A|CLK4_uc003mjh.1_Missense_Mutation_p.G53A|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.G233A|CLK4_uc011dgh.1_Missense_Mutation_p.G53A	p.G233A	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	7	806	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	233			Protein kinase.			Missense_Mutation	SNP	ENST00000316308.4	37	c.698G>C	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575891	0.86645	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.21734	1.99	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.34700	-0.9818	10	0.87932	D	0	.	16.4975	0.84249	0.0:1.0:0.0:0.0	.	233;233;233	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	A	233	ENSP00000316948:G233A	ENSP00000316948:G233A	G	-	2	0	CLK4	177973208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.478000	0.83669	0.591000	0.81541	GGT		0.348	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			10	35	0	0	0	0.006214	0	10	35				
ZFP2	80108	broad.mit.edu	37	5	178358866	178358866	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178358866A>G	ENST00000361362.2	+	5	1082	c.552A>G	c.(550-552)aaA>aaG	p.K184K	ZFP2_ENST00000503510.2_Silent_p.K184K|ZFP2_ENST00000520301.1_Silent_p.K184K|ZFP2_ENST00000523286.1_Silent_p.K184K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K184K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CCGGAGAGAAACCCTATCAGT	0.398																																							uc003mjn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(550-552)AAA>AAG		zinc finger protein 2 homolog							50.0	48.0	49.0					5																	178358866		2203	4300	6503	SO:0001819	synonymous_variant	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358866A>G	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.552A>G	5.37:g.178358866A>G						ZFP2_uc010jky.2_Silent_p.K184K|ZFP2_uc010jkx.1_Silent_p.K184K	p.K184K	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1061	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	184					A5PLN5|B7ZM23|Q9H6Z6	Silent	SNP	ENST00000361362.2	37	c.552A>G	CCDS4440.1																																																																																				0.398	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		3	25	0	0	0	0.000602	0	3	25				
ZNF354C	30832	broad.mit.edu	37	5	178506897	178506897	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:178506897G>C	ENST00000315475.6	+	5	1770	c.1464G>C	c.(1462-1464)agG>agC	p.R488S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R488S(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACATGAGAGGATCCACACTG	0.393																																							uc003mju.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1462-1464)AGG>AGC		zinc finger protein 354C							90.0	96.0	94.0					5																	178506897		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506897G>C		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1464G>C	5.37:g.178506897G>C	ENSP00000324064:p.Arg488Ser						p.R488S	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1579	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	488			C2H2-type 10.		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.1464G>C	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086740	0.36855	.	.	ENSG00000177932	ENST00000315475	T	0.24151	1.87	4.22	-5.77	0.02369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41627	0.1167	M	0.77103	2.36	0.30966	N	0.723078	D	0.71674	0.998	D	0.67382	0.951	T	0.48456	-0.9034	9	0.59425	D	0.04	-17.7205	7.213	0.25945	0.4137:0.1312:0.4552:0.0	.	488	Q86Y25	Z354C_HUMAN	S	488	ENSP00000324064:R488S	ENSP00000324064:R488S	R	+	3	2	ZNF354C	178439503	0.000000	0.05858	0.921000	0.36526	0.248000	0.25809	-1.581000	0.02119	-1.204000	0.02648	-0.218000	0.12543	AGG		0.393	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			9	26	0	0	0	0.004482	0	9	26				
HNRNPH1	3187	broad.mit.edu	37	5	179044535	179044535	+	Nonsense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:179044535G>C	ENST00000356731.5	-	8	2572	c.1037C>G	c.(1036-1038)tCa>tGa	p.S346*	HNRNPH1_ENST00000510411.1_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000329433.6_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000393432.4_Nonsense_Mutation_p.S346*|HNRNPH1_ENST00000511300.2_Nonsense_Mutation_p.S76*|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000442819.2_Nonsense_Mutation_p.S346*			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	346	2 X 16 AA Gly-rich approximate repeats.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGTCTTTTGACATAGCTGC	0.408																																							uc003mkf.3		NA																	0					0						c.(1036-1038)TCA>TGA		heterogeneous nuclear ribonucleoprotein H1							124.0	120.0	121.0					5																	179044535		2203	4300	6503	SO:0001587	stop_gained	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044535G>C	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1037C>G	5.37:g.179044535G>C	ENSP00000349168:p.Ser346*					HNRNPH1_uc011dgn.1_Nonsense_Mutation_p.S76*|HNRNPH1_uc003mkg.3_Nonsense_Mutation_p.S254*|HNRNPH1_uc003mke.3_Nonsense_Mutation_p.S346*|HNRNPH1_uc003mkh.3_Nonsense_Mutation_p.S346*	p.S346*	NM_005520	NP_005511	P31943	HNRH1_HUMAN			9	1143	-			346			RRM 3.|2 X 16 AA Gly-rich approximate repeats.		B3KW86|D3DWQ2|Q6IBM4	Nonsense_Mutation	SNP	ENST00000356731.5	37	c.1037C>G	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.222171|5.222171	0.95139|0.95139	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000511300;ENST00000519033;ENST00000523921	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.75838|.	0.3904|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72218|.	-0.4357|.	3|.	.|0.38643	.|T	.|0.18	-4.3735|-4.3735	20.1615|20.1615	0.98135|0.98135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	221|346;346;346;346;346;76;102;160	.|.	.|ENSP00000327539:S346X	Q|S	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178977141|178977141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.813000|9.813000	0.99286|0.99286	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.408	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		5	74	0	0	0	0.001168	0	5	74				
OR2Y1	134083	broad.mit.edu	37	5	180166157	180166157	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180166157C>A	ENST00000307832.2	-	1	942	c.902G>T	c.(901-903)tGg>tTg	p.W301L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W301L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|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)			TAGTACTTTCCACAGAGCCCC	0.418																																							uc003mmf.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(901-903)TGG>TTG		olfactory receptor, family 2, subfamily Y,							89.0	99.0	96.0					5																	180166157		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166157C>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.902G>T	5.37:g.180166157C>A	ENSP00000312403:p.Trp301Leu						p.W301L	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	902	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	301			Cytoplasmic (Potential).		B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.902G>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	c	9.321	1.058036	0.19987	.	.	ENSG00000174339	ENST00000307832	T	0.34072	1.38	4.41	1.45	0.22620	.	1.203490	0.06202	N	0.683401	T	0.22003	0.0530	N	0.11818	0.18	0.21822	N	0.999521	B	0.20671	0.047	B	0.21151	0.033	T	0.29058	-1.0024	10	0.62326	D	0.03	.	5.9475	0.19227	0.0:0.5434:0.0:0.4566	.	301	Q8NGV0	OR2Y1_HUMAN	L	301	ENSP00000312403:W301L	ENSP00000312403:W301L	W	-	2	0	OR2Y1	180098763	0.001000	0.12720	0.053000	0.19242	0.001000	0.01503	-0.018000	0.12568	0.510000	0.28216	-0.424000	0.05967	TGG		0.418	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		18	89	1	0	1.33834e-09	0.007413	1.62889e-09	18	89				
OR2V2	285659	broad.mit.edu	37	5	180581966	180581966	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180581966C>A	ENST00000328275.1	+	1	24	c.24C>A	c.(22-24)tcC>tcA	p.S8S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S8S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACCAGTCCTACACAGATG	0.507																																							uc011dhj.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(22-24)TCC>TCA		olfactory receptor, family 2, subfamily V,							232.0	185.0	201.0					5																	180581966		2203	4300	6503	SO:0001819	synonymous_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180581966C>A	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.24C>A	5.37:g.180581966C>A							p.S8S	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	24	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	8			Extracellular (Potential).		Q6IFL6|Q8NGV1	Silent	SNP	ENST00000328275.1	37	c.24C>A	CCDS4461.1																																																																																				0.507	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			22	62	1	0	1.55469e-16	0.00333	2.06157e-16	22	62				
OR2V2	285659	broad.mit.edu	37	5	180582444	180582444	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180582444C>T	ENST00000328275.1	+	1	502	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P168S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGAATTTCCCCTACTGTGG	0.473																																							uc011dhj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(502-504)CCC>TCC		olfactory receptor, family 2, subfamily V,							270.0	259.0	262.0					5																	180582444		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582444C>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.502C>T	5.37:g.180582444C>T	ENSP00000332185:p.Pro168Ser						p.P168S	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	502	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	168			Extracellular (Potential).		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.502C>T	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	6.103	0.387252	0.11581	.	.	ENSG00000182613	ENST00000328275	T	0.37058	1.22	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36778	N	0.002408	T	0.34483	0.0899	L	0.27053	0.805	0.09310	N	1	P	0.48640	0.913	P	0.51582	0.674	T	0.11227	-1.0596	10	0.39692	T	0.17	.	12.3661	0.55230	0.0:1.0:0.0:0.0	.	168	Q96R30	OR2V2_HUMAN	S	168	ENSP00000332185:P168S	ENSP00000332185:P168S	P	+	1	0	OR2V2	180515050	0.000000	0.05858	0.351000	0.25721	0.046000	0.14306	-0.127000	0.10547	1.821000	0.53095	0.305000	0.20034	CCC		0.473	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			29	143	0	0	0	0.007291	0	29	143				
OR2V2	285659	broad.mit.edu	37	5	180582654	180582654	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:180582654G>T	ENST00000328275.1	+	1	712	c.712G>T	c.(712-714)Gcc>Tcc	p.A238S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A238S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAAAAAGGCCCTGGCCAC	0.572																																							uc011dhj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(712-714)GCC>TCC		olfactory receptor, family 2, subfamily V,							139.0	134.0	136.0					5																	180582654		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582654G>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.712G>T	5.37:g.180582654G>T	ENSP00000332185:p.Ala238Ser						p.A238S	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	712	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	238			Helical; Name=6; (Potential).		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.712G>T	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.701155	0.30142	.	.	ENSG00000182613	ENST00000328275	T	0.00359	7.87	3.48	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36972	N	0.002318	T	0.00580	0.0019	M	0.93197	3.39	0.35109	D	0.765948	P	0.42827	0.791	P	0.44860	0.462	T	0.50550	-0.8815	10	0.72032	D	0.01	.	10.0862	0.42419	0.0:0.0:0.7979:0.2021	.	238	Q96R30	OR2V2_HUMAN	S	238	ENSP00000332185:A238S	ENSP00000332185:A238S	A	+	1	0	OR2V2	180515260	1.000000	0.71417	0.700000	0.30305	0.043000	0.13939	4.867000	0.63013	0.788000	0.33755	-0.856000	0.03024	GCC		0.572	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			16	62	1	0	1.37285e-15	0.004007	1.80234e-15	16	62				
HUS1B	135458	broad.mit.edu	37	6	656540	656540	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:656540C>A	ENST00000380907.2	-	1	423	c.405G>T	c.(403-405)cgG>cgT	p.R135R	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	135					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)		p.R135R(2)		endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TGGGAAGCACCCGCACGGGCA	0.731																																							uc003mtg.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(403-405)CGG>CGT		HUS1 checkpoint protein B							19.0	23.0	21.0					6																	656540		2178	4254	6432	SO:0001819	synonymous_variant	135458							g.chr6:656540C>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.405G>T	6.37:g.656540C>A						EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	p.R135R	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	425	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	135					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.405G>T	CCDS4470.1																																																																																				0.731	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		52	29	1	0	1.74971e-23	0.01441	2.39677e-23	52	29				
GMDS	2762	broad.mit.edu	37	6	1930451	1930451	+	Silent	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:1930451A>T	ENST00000380815.4	-	7	926	c.657T>A	c.(655-657)gtT>gtA	p.V219V	GMDS_ENST00000530927.1_Silent_p.V189V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	219					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)	p.V219V(2)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TTTTTCGAGTAACGAAATTAG	0.433																																							uc003mtq.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(655-657)GTT>GTA		GDP-mannose 4,6-dehydratase							81.0	76.0	78.0					6																	1930451		2203	4300	6503	SO:0001819	synonymous_variant	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1930451A>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.657T>A	6.37:g.1930451A>T							p.V219V	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	7	847	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	219					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	c.657T>A	CCDS4474.1																																																																																				0.433	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			33	18	0	0	0	0.010818	0	33	18				
CDYL	9425	broad.mit.edu	37	6	4892412	4892412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:4892412G>T	ENST00000328908.5	+	4	783	c.652G>T	c.(652-654)Gag>Tag	p.E218*	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_Nonsense_Mutation_p.E32*|CDYL_ENST00000397588.3_Nonsense_Mutation_p.E164*|CDYL_ENST00000449732.2_Nonsense_Mutation_p.E32*			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	218	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.E218*(2)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGAGAGCCCTGAGAAACTGGA	0.597																																							uc003mwi.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(652-654)GAG>TAG		chromodomain protein, Y chromosome-like isoform							52.0	57.0	55.0					6																	4892412		2203	4300	6503	SO:0001587	stop_gained	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892412G>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.652G>T	6.37:g.4892412G>T	ENSP00000330512:p.Glu218*					CDYL_uc003mwj.2_Nonsense_Mutation_p.E164*|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Nonsense_Mutation_p.E32*|CDYL_uc011dhy.1_Nonsense_Mutation_p.E32*	p.E218*	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	783	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	218					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Nonsense_Mutation	SNP	ENST00000328908.5	37	c.652G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.462674	0.98299	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	.	.	.	5.55	5.55	0.83447	.	0.225841	0.34314	N	0.004071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5062	0.90898	0.0:0.0:1.0:0.0	.	.	.	.	X	218;164;32;32	.	.	E	+	1	0	CDYL	4837411	1.000000	0.71417	0.955000	0.39395	0.403000	0.30841	6.522000	0.73783	2.615000	0.88500	0.650000	0.86243	GAG		0.597	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		16	23	1	0	2.31682e-05	0.003163	2.54658e-05	16	23				
NEDD9	4739	broad.mit.edu	37	6	11185641	11185641	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:11185641T>A	ENST00000379446.5	-	7	2425	c.2259A>T	c.(2257-2259)gcA>gcT	p.A753A	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.A753A	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	753	Divergent helix-loop-helix motif.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.A753A(6)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCAGTTTGTGTGCACTGAGGA	0.547																																							uc003mzv.2		NA																	6	Substitution - coding silent(6)		lung(6)		0						c.(2257-2259)GCA>GCT		neural precursor cell expressed, developmentally							204.0	163.0	177.0					6																	11185641		2203	4300	6503	SO:0001819	synonymous_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11185641T>A	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2259A>T	6.37:g.11185641T>A						NEDD9_uc010joz.2_Silent_p.A753A|NEDD9_uc003mzw.3_Silent_p.A607A	p.A753A	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		7	2426	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	753			Divergent helix-loop-helix motif.		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.2259A>T	CCDS4520.1																																																																																				0.547	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		60	57	0	0	0	0.01441	0	60	57				
CD83	9308	broad.mit.edu	37	6	14131775	14131775	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:14131775A>T	ENST00000379153.3	+	3	349	c.178A>T	c.(178-180)Atg>Ttg	p.M60L		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	60	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.M60L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TGAAGAGAGGATGGAGACACC	0.507																																							uc003nbi.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(178-180)ATG>TTG		CD83 antigen isoform a							82.0	77.0	79.0					6																	14131775		2203	4300	6503	SO:0001583	missense	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14131775A>T	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.178A>T	6.37:g.14131775A>T	ENSP00000368450:p.Met60Leu					CD83_uc003nbh.2_Missense_Mutation_p.M60L	p.M60L	NM_004233	NP_004224	Q01151	CD83_HUMAN			3	356	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	60			Extracellular (Potential).|Ig-like V-type.		Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	c.178A>T	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	A	4.607	0.112779	0.08831	.	.	ENSG00000112149	ENST00000379153	T	0.61742	0.08	5.39	-5.72	0.02406	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.485140	0.03929	N	0.284849	T	0.07818	0.0196	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08911	-1.0699	10	0.02654	T	1	-0.1011	8.8815	0.35378	0.2033:0.5514:0.2453:0.0	.	60	Q01151	CD83_HUMAN	L	60	ENSP00000368450:M60L	ENSP00000368450:M60L	M	+	1	0	CD83	14239754	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-1.786000	0.01766	-1.203000	0.02652	0.533000	0.62120	ATG		0.507	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			22	20	0	0	0	0.012319	0	22	20				
MYLIP	29116	broad.mit.edu	37	6	16143378	16143378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:16143378C>T	ENST00000356840.3	+	4	790	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	MYLIP_ENST00000349606.4_Nonsense_Mutation_p.Q17*|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	198	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)	p.Q198*(1)		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)			TAGCGAAGGGCAGAAACTGCT	0.443																																							uc003nbq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(592-594)CAG>TAG		myosin regulatory light chain interacting							160.0	157.0	158.0					6																	16143378		2203	4300	6503	SO:0001587	stop_gained	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16143378C>T	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.592C>T	6.37:g.16143378C>T	ENSP00000349298:p.Gln198*					MYLIP_uc003nbr.2_Nonsense_Mutation_p.Q17*	p.Q198*	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		4	829	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	198			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Nonsense_Mutation	SNP	ENST00000356840.3	37	c.592C>T	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	C	41	8.913886	0.99000	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.9047	0.97002	0.0:1.0:0.0:0.0	.	.	.	.	X	198;17	.	ENSP00000008686:Q17X	Q	+	1	0	MYLIP	16251357	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.367000	0.79558	2.763000	0.94921	0.655000	0.94253	CAG		0.443	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		6	56	0	0	0	0.001984	0	6	56				
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					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)	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567																																							uc003nhk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(205-207)GAC>AAC		histone cluster 1, H2bi							162.0	155.0	158.0					6																	26273408		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273408G>A	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.205G>A	6.37:g.26273408G>A	ENSP00000366962:p.Asp69Asn					HIST1H3G_uc003nhi.2_5'Flank	p.D69N	NM_003525	NP_003516	P62807	H2B1C_HUMAN			1	205	+			69					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.205G>A	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	16.12	3.031722	0.54790	.	.	ENSG00000168242	ENST00000377733	T	0.28454	1.61	4.5	4.5	0.54988	.	.	.	.	.	T	0.57504	0.2058	H	0.94582	3.555	0.34166	D	0.669283	.	.	.	.	.	.	T	0.72994	-0.4122	7	0.62326	D	0.03	.	15.8093	0.78543	0.0:0.0:1.0:0.0	.	.	.	.	N	69	ENSP00000366962:D69N	ENSP00000366962:D69N	D	+	1	0	HIST1H2BI	26381387	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	7.642000	0.83385	2.058000	0.61347	0.563000	0.77884	GAC		0.567	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		38	170	0	0	0	0.003755	0	38	170				
HMGN4	10473	broad.mit.edu	37	6	26545530	26545530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:26545530A>G	ENST00000377575.2	+	2	273	c.96A>G	c.(94-96)ccA>ccG	p.P32P		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	32						chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P32P(2)		lung(2)|skin(1)	3						CTGCTAAACCAGCTCCTCCAA	0.502																																							uc003nig.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(94-96)CCA>CCG		high mobility group nucleosomal binding domain							84.0	75.0	78.0					6																	26545530		2203	4300	6503	SO:0001819	synonymous_variant	10473					chromatin|nucleus	DNA binding	g.chr6:26545530A>G	U90549	CCDS4615.1	6p21.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000182952	ENSG00000182952		"""High-mobility group / Canonical"""	4989	protein-coding gene	gene with protein product			"""high-mobility group (nonhistone chromosomal) protein 17-like 3"""	HMG17L3		9149941, 11410162	Standard	NM_006353		Approved	NHC	uc003nig.3	O00479	OTTHUMG00000014458	ENST00000377575.2:c.96A>G	6.37:g.26545530A>G							p.P32P	NM_006353	NP_006344	O00479	HMGN4_HUMAN			2	334	+			32					B2R4I6|Q53XL9	Silent	SNP	ENST00000377575.2	37	c.96A>G	CCDS4615.1																																																																																				0.502	HMGN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040123.2			21	26	0	0	0	0.008871	0	21	26				
ZNF184	7738	broad.mit.edu	37	6	27420806	27420806	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:27420806G>A	ENST00000211936.6	-	6	816	c.532C>T	c.(532-534)Cct>Tct	p.P178S	ZNF184_ENST00000377419.1_Missense_Mutation_p.P178S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	178					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.P178S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTATTTACAGGGCCTTTTTCC	0.403																																							uc003njj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(532-534)CCT>TCT		zinc finger protein 184							241.0	239.0	239.0					6																	27420806		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420806G>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.532C>T	6.37:g.27420806G>A	ENSP00000211936:p.Pro178Ser					ZNF184_uc010jqv.2_Missense_Mutation_p.P178S|ZNF184_uc003nji.2_Missense_Mutation_p.P178S	p.P178S	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	1343	-			178					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.532C>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505146	0.26949	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.05649	3.41;3.41	5.05	1.01	0.19927	.	0.390886	0.18977	N	0.125991	T	0.00666	0.0022	N	0.03000	-0.44	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.47623	-0.9103	10	0.27082	T	0.32	.	2.731	0.05227	0.0911:0.1619:0.413:0.3339	.	178	Q99676	ZN184_HUMAN	S	178	ENSP00000211936:P178S;ENSP00000366636:P178S	ENSP00000211936:P178S	P	-	1	0	ZNF184	27528785	0.003000	0.15002	0.000000	0.03702	0.438000	0.31896	1.251000	0.32862	0.674000	0.31244	0.555000	0.69702	CCT		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		58	66	0	0	0	0.01441	0	58	66				
HIST1H3H	8357	broad.mit.edu	37	6	27777984	27777984	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:27777984G>A	ENST00000369163.2	+	1	143	c.133G>A	c.(133-135)Ggt>Agt	p.G45S	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	45					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CTATCGGCCTGGTACAGTGGC	0.652																																							uc003njm.2		NA																	0				ovary(1)	1						c.(133-135)GGT>AGT		histone cluster 1, H3h							47.0	48.0	48.0					6																	27777984		2203	4300	6503	SO:0001583	missense	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27777984G>A	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.133G>A	6.37:g.27777984G>A	ENSP00000358160:p.Gly45Ser					HIST1H2BL_uc003njl.2_5'Flank	p.G45S	NM_003536	NP_003527	P68431	H31_HUMAN			1	143	+			45					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	c.133G>A	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.281185	0.59758	.	.	ENSG00000203813	ENST00000369163	T	0.49720	0.77	4.33	4.33	0.51752	.	.	.	.	.	T	0.58163	0.2103	.	.	.	0.45515	D	0.998473	.	.	.	.	.	.	T	0.64626	-0.6363	6	0.72032	D	0.01	.	16.683	0.85297	0.0:0.0:1.0:0.0	.	.	.	.	S	45	ENSP00000358160:G45S	ENSP00000358160:G45S	G	+	1	0	HIST1H3H	27885963	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	7.503000	0.81632	2.329000	0.79093	0.655000	0.94253	GGT		0.652	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		4	57	0	0	0	0.000602	0	4	57				
ZNF165	7718	broad.mit.edu	37	6	28056879	28056879	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:28056879G>A	ENST00000377325.1	+	4	1645	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	363					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)	p.Q363Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGGCATCAGAGAATCCACA	0.433																																							uc003nkg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1087-1089)CAG>CAA		zinc finger protein 165							55.0	56.0	55.0					6																	28056879		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056879G>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1089G>A	6.37:g.28056879G>A						ZNF165_uc003nkh.2_Silent_p.Q363Q|ZNF165_uc003nki.3_Silent_p.Q363Q|ZSCAN12P1_uc003nkj.3_5'Flank	p.Q363Q	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	2173	+			363			C2H2-type 2.			Silent	SNP	ENST00000377325.1	37	c.1089G>A	CCDS4643.1																																																																																				0.433	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		6	23	0	0	0	0.001984	0	6	23				
ZNF311	282890	broad.mit.edu	37	6	28963357	28963357	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:28963357C>T	ENST00000377179.3	-	7	1934	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E474E(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCCCACACTCCTCACACCTGT	0.493																																							uc003nlu.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1420-1422)GAG>GAA		zinc finger protein 311							185.0	143.0	158.0					6																	28963357		1511	2709	4220	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963357C>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1422G>A	6.37:g.28963357C>T						ZNF311_uc011dlk.1_Silent_p.E382E|ZNF311_uc003nlv.2_Silent_p.E382E	p.E474E	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			7	1935	-			474			C2H2-type 9.		A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.1422G>A	CCDS34357.1																																																																																				0.493	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		28	33	0	0	0	0.00632	0	28	33				
C2	717	broad.mit.edu	37	6	31901508	31901508	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:31901508G>A	ENST00000299367.5	+	4	840	c.564G>A	c.(562-564)gaG>gaA	p.E188E	C2_ENST00000469372.1_Missense_Mutation_p.S20N|C2_ENST00000418949.2_Silent_p.E188E|CFB_ENST00000456570.1_Silent_p.E126E|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Silent_p.E126E|C2_ENST00000452323.2_Silent_p.E65E|C2_ENST00000442278.2_Silent_p.E56E	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	188	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.E188E(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGTCTTCGGAGCGGGAGTGCC	0.647																																							uc003nyf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(562-564)GAG>GAA		complement component 2 isoform 1 preproprotein							70.0	62.0	65.0					6																	31901508		1511	2709	4220	SO:0001819	synonymous_variant	717				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr6:31901508G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.564G>A	6.37:g.31901508G>A						C2_uc003nyc.2_Missense_Mutation_p.S20N|C2_uc011doo.1_Missense_Mutation_p.S20N|C2_uc011dop.1_Silent_p.E65E|C2_uc003nye.3_Silent_p.E188E|C2_uc010jtk.2_Silent_p.E56E|C2_uc011doq.1_Silent_p.E159E|C2_uc003nyg.2_Silent_p.E56E|CFB_uc011dor.1_Silent_p.E126E	p.E188E	NM_000063	NP_000054	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	4	828	+		Ovarian(999;0.00965)	188			Sushi 3.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	c.564G>A	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345883	0.24426	.	.	ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000383177	D;D	0.90676	-2.52;-2.71	5.49	2.31	0.28768	.	.	.	.	.	T	0.71367	0.3331	.	.	.	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.63111	-0.6710	7	.	.	.	-14.484	8.117	0.30948	0.2932:0.0:0.7068:0.0	.	20;20	B4DQI1;E9PDZ0	.;.	N	20;20;20;53	ENSP00000418923:S20N;ENSP00000417482:S20N	.	S	+	2	0	C2	32009487	1.000000	0.71417	0.452000	0.26994	0.184000	0.23303	2.157000	0.42320	0.712000	0.32039	0.558000	0.71614	AGC		0.647	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			45	44	0	0	0	0.013114	0	45	44				
SKIV2L	6499	broad.mit.edu	37	6	31927146	31927146	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:31927146T>A	ENST00000375394.2	+	2	208	c.95T>A	c.(94-96)cTg>cAg	p.L32Q	NELFE_ENST00000375425.5_5'Flank|MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000544581.1_5'UTR|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000444811.2_5'Flank|NELFE_ENST00000375429.3_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	32					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.L32Q(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTGGGAGCTGCTGAACTTG	0.587																																							uc003nyn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(94-96)CTG>CAG		superkiller viralicidic activity 2-like homolog							203.0	234.0	223.0					6																	31927146		1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31927146T>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.95T>A	6.37:g.31927146T>A	ENSP00000364543:p.Leu32Gln					RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|MIR1236_hsa-mir-1236|MI0006326_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_5'UTR	p.L32Q	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			2	484	+			32					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.95T>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241362	0.58995	.	.	ENSG00000204351	ENST00000375394	T	0.49432	0.78	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.33847	0.0877	L	0.44542	1.39	0.80722	D	1	P	0.39157	0.662	B	0.43575	0.424	T	0.38585	-0.9654	10	0.87932	D	0	-3.4548	12.2335	0.54500	0.0:0.0:0.0:1.0	.	32	Q15477	SKIV2_HUMAN	Q	32	ENSP00000364543:L32Q	ENSP00000364543:L32Q	L	+	2	0	SKIV2L	32035125	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	5.189000	0.65098	2.084000	0.62774	0.533000	0.62120	CTG		0.587	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			173	168	0	0	0	0.01441	0	173	168				
TNXB	7148	broad.mit.edu	37	6	32017941	32017941	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:32017941C>A	ENST00000375244.3	-	27	9474	c.9273G>T	c.(9271-9273)ctG>ctT	p.L3091L	TNXB_ENST00000375247.2_Silent_p.L3089L			P22105	TENX_HUMAN	tenascin XB	3136					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.L3156L(2)|p.L3091L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTACTGGACCAGGAAGTGGT	0.642																																							uc003nzl.2		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(9265-9267)CTG>CTT		tenascin XB isoform 1 precursor							64.0	69.0	67.0					6																	32017941		1214	2523	3737	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017941C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9273G>T	6.37:g.32017941C>A							p.L3089L	NM_019105	NP_061978	P22105	TENX_HUMAN			27	9469	-			3136			Fibronectin type-III 23.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9267G>T																																																																																					0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		35	62	1	0	3.62531e-18	0.004289	4.84264e-18	35	62				
TNXB	7148	broad.mit.edu	37	6	32037579	32037579	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:32037579C>T	ENST00000375244.3	-	15	5539	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1780K			P22105	TENX_HUMAN	tenascin XB	1862	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.E1867K(1)|p.E1780K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCAGCTCCTCCCCCAGACGG	0.577																																							uc003nzl.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(5338-5340)GAG>AAG		tenascin XB isoform 1 precursor							25.0	28.0	27.0					6																	32037579		1960	4145	6105	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037579C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5338G>A	6.37:g.32037579C>T	ENSP00000364393:p.Glu1780Lys						p.E1780K	NM_019105	NP_061978	P22105	TENX_HUMAN			15	5540	-			1862			Fibronectin type-III 11.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5338G>A		.	.	.	.	.	.	.	.	.	.	C	14.52	2.560356	0.45590	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04406	3.63;3.63	5.5	4.64	0.57946	.	0.515641	0.16418	N	0.215293	T	0.01353	0.0044	L	0.42245	1.32	0.22096	N	0.99937	B	0.25441	0.126	B	0.23419	0.046	T	0.44559	-0.9320	10	0.06236	T	0.91	.	11.6899	0.51510	0.0:0.9161:0.0:0.0839	.	1780	P22105-3	.	K	1780	ENSP00000364393:E1780K;ENSP00000364396:E1780K	ENSP00000364393:E1780K	E	-	1	0	TNXB	32145557	0.059000	0.20769	1.000000	0.80357	0.996000	0.88848	1.488000	0.35551	1.333000	0.45449	0.591000	0.81541	GAG		0.577	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	24	0	0	0	0.006214	0	9	24				
PSMB8	5696	broad.mit.edu	37	6	32805830	32805830	+	IGR	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:32805830A>C	ENST00000374882.3	-	0	1124				TAP2_ENST00000374897.2_Missense_Mutation_p.F61V|TAP2_ENST00000374899.4_Missense_Mutation_p.F61V|TAP2_ENST00000452392.2_Missense_Mutation_p.F61V	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|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)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.F61V(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	GTCCCCACAAATCCCAGCAGC	0.667																																					NSCLC(48;53 1172 10859 13624 22883)		uc003occ.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(181-183)TTT>GTT		transporter 2, ATP-binding cassette, sub-family							52.0	56.0	54.0					6																	32805830		1510	2708	4218	SO:0001628	intergenic_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32805830A>C		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805830A>C						TAP2_uc011dqf.1_Missense_Mutation_p.F61V|TAP2_uc003ocb.1_Missense_Mutation_p.F61V|TAP2_uc003ocd.2_Missense_Mutation_p.F61V	p.F61V	NM_018833	NP_061313	Q03519	TAP2_HUMAN			1	212	-			61			Helical; Name=2; (Potential).		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.181T>G	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	A	4.177	0.031442	0.08101	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;T	0.88896	-2.44;-2.44;-0.08	4.62	-9.24	0.00669	.	3.290320	0.00725	N	0.000917	T	0.53126	0.1777	N	0.14661	0.345	0.25172	N	0.990274	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.59048	-0.7527	9	0.16896	T	0.51	6.8163	6.6256	0.22828	0.1324:0.2898:0.4821:0.0958	.	61;62;61;61	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	V	61	ENSP00000364034:F61V;ENSP00000364032:F61V;ENSP00000391806:F61V	ENSP00000364032:F61V	F	-	1	0	XXbac-BPG246D15.9;TAP2	32913808	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.223000	0.02962	-2.302000	0.00657	-0.463000	0.05309	TTT		0.667	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		17	91	0	0	0	0.004007	0	17	91				
TAPBP	6892	broad.mit.edu	37	6	33272866	33272866	+	Silent	SNP	G	G	A	rs145473025	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:33272866G>A	ENST00000489157.1	-	3	719	c.507C>T	c.(505-507)ttC>ttT	p.F169F	TAPBP_ENST00000434618.2_Silent_p.F256F|TAPBP_ENST00000456592.2_Silent_p.F256F|TAPBP_ENST00000475304.1_Silent_p.F274F|TAPBP_ENST00000426633.2_Silent_p.F256F			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	256					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)	p.F256F(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TAGGCAGCCAGAAGGTCCCAT	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		17448	0.0		0.001	False		,,,				2504	0.001						uc003odx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(766-768)TTC>TTT		tapasin isoform 1 precursor		G	,,	1,4405	2.1+/-5.4	0,1,2202	104.0	104.0	104.0		768,768,507	2.0	1.0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TAPBP	NM_003190.4,NM_172208.2,NM_172209.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	256/449,256/505,169/362	33272866	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272866G>A	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.507C>T	6.37:g.33272866G>A						TAPBP_uc010jus.1_Silent_p.F274F|TAPBP_uc003ody.2_Silent_p.F256F|TAPBP_uc003odz.2_Silent_p.F256F|TAPBP_uc010jut.1_Silent_p.F169F|TAPBP_uc011drc.1_Silent_p.F256F	p.F256F	NM_003190	NP_003181	O15533	TPSN_HUMAN			4	939	-			256			Lumenal (Potential).		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Silent	SNP	ENST00000489157.1	37	c.768C>T	CCDS34427.2																																																																																				0.582	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			24	114	0	0	0	0.005443	0	24	114				
NUDT3	11165	broad.mit.edu	37	6	34263448	34263448	+	Silent	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:34263448C>G	ENST00000607016.1	-	3	536	c.225G>C	c.(223-225)ggG>ggC	p.G75G	RPS10-NUDT3_ENST00000605528.1_Silent_p.G194G	NM_006703.3	NP_006694.1	O95989	NUDT3_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 3	75	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287)	p.G75G(2)		lung(2)	2						TTCCCAATGTCCCTTTTACTC	0.308																																					GBM(96;1206 1939 18658 39482)	GBM(96;1206 1939 18658 39482)	uc003ojl.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(223-225)GGG>GGC		nudix-type motif 3							89.0	85.0	87.0					6																	34263448		2202	4300	6502	SO:0001819	synonymous_variant	11165				cell-cell signaling|diadenosine polyphosphate catabolic process|diphosphoinositol polyphosphate catabolic process	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|magnesium ion binding	g.chr6:34263448C>G	AF062530	CCDS4791.1	6p21.2	2014-07-16			ENSG00000272325	ENSG00000272325		"""Nudix motif containing"""	8050	protein-coding gene	gene with protein product		609228				9822604	Standard	NM_006703		Approved	DIPP		O95989	OTTHUMG00000014545	ENST00000607016.1:c.225G>C	6.37:g.34263448C>G							p.G75G	NM_006703	NP_006694	O95989	NUDT3_HUMAN			3	527	-			75	G->A: Loss of function.		Nudix hydrolase.		B2R8N4	Silent	SNP	ENST00000607016.1	37	c.225G>C	CCDS4791.1																																																																																				0.308	NUDT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040224.2			8	28	0	0	0	0.004482	0	8	28				
SLC26A8	116369	broad.mit.edu	37	6	35927260	35927260	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:35927260C>T	ENST00000490799.1	-	16	2193	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	SLC26A8_ENST00000355574.2_Missense_Mutation_p.D614N|SLC26A8_ENST00000394602.2_Missense_Mutation_p.D509N	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.D614N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCCAGATCATCACAGTTGCAG	0.363																																							uc003olm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1840-1842)GAT>AAT		solute carrier family 26, member 8 isoform a							79.0	85.0	83.0					6																	35927260		2202	4300	6502	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35927260C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1840G>A	6.37:g.35927260C>T	ENSP00000417638:p.Asp614Asn					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.D196N|SLC26A8_uc003oln.2_Missense_Mutation_p.D614N|SLC26A8_uc003oll.2_Missense_Mutation_p.D509N	p.D614N	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			16	1951	-			614			STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.1840G>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421062	0.62622	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.96396	-3.59;-4.0;-3.59	5.19	5.19	0.71726	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.536609	0.19305	N	0.117546	D	0.95843	0.8647	L	0.46157	1.445	0.30562	N	0.764401	D;D;D	0.71674	0.997;0.989;0.998	D;P;D	0.66351	0.911;0.787;0.943	D	0.92946	0.6376	10	0.35671	T	0.21	.	14.6635	0.68891	0.0:1.0:0.0:0.0	.	614;509;196	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	N	614;509;614	ENSP00000417638:D614N;ENSP00000378100:D509N;ENSP00000347778:D614N	ENSP00000347778:D614N	D	-	1	0	SLC26A8	36035238	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	4.300000	0.59079	2.591000	0.87537	0.650000	0.86243	GAT		0.363	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			13	62	0	0	0	0.001855	0	13	62				
GLO1	2739	broad.mit.edu	37	6	38670747	38670747	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:38670747C>A	ENST00000373365.4	-	1	170	c.84G>T	c.(82-84)aaG>aaT	p.K28N		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	28					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)	p.K28N(1)		lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	CTGTGCCCACCTTGGTACTGG	0.721																																							uc003ooc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)AAG>AAT		glyoxalase I	Glutathione(DB00143)						14.0	16.0	15.0					6																	38670747		2193	4283	6476	SO:0001630	splice_region_variant	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38670747C>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.84+1G>T	6.37:g.38670747C>A							p.K28N	NM_006708	NP_006699	Q04760	LGUL_HUMAN			1	206	-			28					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	c.84G>T	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076730	0.55753	.	.	ENSG00000124767	ENST00000373365	T	0.30714	1.52	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	N	0.08118	0	0.58432	D	0.999999	B	0.12013	0.005	B	0.12156	0.007	T	0.18461	-1.0336	9	.	.	.	-35.7987	15.093	0.72211	0.0:1.0:0.0:0.0	.	28	Q04760	LGUL_HUMAN	N	28	ENSP00000362463:K28N	.	K	-	3	2	GLO1	38778725	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	3.273000	0.51623	2.941000	0.99782	0.655000	0.94253	AAG		0.721	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708	Missense_Mutation	15	16	1	0	2.61681e-11	0.00245	3.27271e-11	15	16				
TSPO2	222642	broad.mit.edu	37	6	41010795	41010795	+	Missense_Mutation	SNP	G	G	A	rs148297848	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:41010795G>A	ENST00000373161.1	+	2	316	c.71G>A	c.(70-72)cGt>cAt	p.R24H	TSPO2_ENST00000470917.1_Missense_Mutation_p.R24H|TSPO2_ENST00000373158.2_Missense_Mutation_p.R24H	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	24					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)	p.R24H(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGTTCACTCGTGATCACATG	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20224	0.0		0.0	False		,,,				2504	0.0						uc003opj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(70-72)CGT>CAT		benzodiazapine receptor (peripheral)-like 1		G	HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	172.0	143.0	152.0		71,71	-3.6	0.0	6	dbSNP_134	152	0,8600		0,0,4300	yes	missense,missense	TSPO2	NM_001010873.2,NM_001159726.1	29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	24/171,24/171	41010795	4,13002	2203	4300	6503	SO:0001583	missense	222642				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	g.chr6:41010795G>A		CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.71G>A	6.37:g.41010795G>A	ENSP00000362255:p.Arg24His					UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Missense_Mutation_p.V34M|TSPO2_uc011dub.1_Missense_Mutation_p.R24H	p.R24H	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN			2	372	+			24					B2RPR2|B7ZMN8|Q3SX82	Missense_Mutation	SNP	ENST00000373161.1	37	c.71G>A	CCDS34444.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.972	-0.699883	0.03279	9.08E-4	0.0	ENSG00000112212	ENST00000373161;ENST00000373158;ENST00000470917	T;T;T	0.45276	0.9;0.9;0.9	4.26	-3.61	0.04556	.	0.633629	0.15438	N	0.262358	T	0.06462	0.0166	N	0.13352	0.335	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.35724	-0.9777	10	0.22109	T	0.4	0.3245	6.1327	0.20215	0.611:0.1704:0.2186:0.0	.	24	Q5TGU0	TSPO2_HUMAN	H	24	ENSP00000362255:R24H;ENSP00000362252:R24H;ENSP00000419985:R24H	ENSP00000362252:R24H	R	+	2	0	TSPO2	41118773	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	-0.081000	0.11321	-0.594000	0.05836	-0.378000	0.06908	CGT		0.552	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040493.1	NM_001010873.2		68	73	0	0	0	0.01441	0	68	73				
GLTSCR1L	23506	broad.mit.edu	37	6	42796998	42796998	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:42796998C>T	ENST00000314073.5	+	6	1103	c.927C>T	c.(925-927)gtC>gtT	p.V309V	GLTSCR1L_ENST00000394168.1_Silent_p.V309V			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	309																	CAAATAAAGTCCCAATTAATA	0.388																																							uc003osn.1		NA																	0				ovary(1)	1						c.(925-927)GTC>GTT		hypothetical protein LOC23506							144.0	152.0	149.0					6																	42796998		2203	4300	6503	SO:0001819	synonymous_variant	23506							g.chr6:42796998C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.927C>T	6.37:g.42796998C>T						KIAA0240_uc003osm.1_Silent_p.V309V|KIAA0240_uc011duw.1_Silent_p.V309V|KIAA0240_uc003oso.1_Silent_p.V309V|KIAA0240_uc003osp.1_Silent_p.V309V	p.V309V	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		6	1078	+	Colorectal(47;0.196)		309					A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	c.927C>T	CCDS34451.1																																																																																				0.388	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		17	132	0	0	0	0.00499	0	17	132				
PEX6	5190	broad.mit.edu	37	6	42934376	42934376	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:42934376C>T	ENST00000304611.8	-	10	2050	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	PEX6_ENST00000244546.4_Missense_Mutation_p.E661K	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	661					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCATCCTCCTCAGTCAAGCCA	0.597																																							uc003otf.2		NA																	0				ovary(1)	1						c.(1981-1983)GAG>AAG		peroxisomal biogenesis factor 6							131.0	142.0	138.0					6																	42934376		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42934376C>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1981G>A	6.37:g.42934376C>T	ENSP00000303511:p.Glu661Lys					PEX6_uc010jya.2_RNA	p.E661K	NM_000287	NP_000278	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		10	2074	-			661					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.1981G>A	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685730	0.47991	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.95307	-3.38;-3.67	5.11	5.11	0.69529	.	0.225800	0.43919	D	0.000512	D	0.90669	0.7073	L	0.39245	1.2	0.58432	D	0.999998	P	0.42735	0.788	B	0.42851	0.4	D	0.91648	0.5332	10	0.51188	T	0.08	-17.05	18.1615	0.89709	0.0:1.0:0.0:0.0	.	661	Q13608	PEX6_HUMAN	K	661	ENSP00000303511:E661K;ENSP00000244546:E661K	ENSP00000244546:E661K	E	-	1	0	PEX6	43042354	0.996000	0.38824	0.994000	0.49952	0.930000	0.56654	3.791000	0.55469	2.379000	0.81126	0.462000	0.41574	GAG		0.597	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		8	192	0	0	0	0.006214	0	8	192				
CAPN11	11131	broad.mit.edu	37	6	44144038	44144038	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:44144038T>A	ENST00000398776.1	+	9	1002	c.964T>A	c.(964-966)Tgg>Agg	p.W322R	CAPN11_ENST00000542245.1_Missense_Mutation_p.W322R	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	322	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.W322R(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGAATCCCTGGGGCCGGAT	0.597																																							uc003owt.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(964-966)TGG>AGG		calpain 11							81.0	84.0	83.0					6																	44144038		1938	4132	6070	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144038T>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.964T>A	6.37:g.44144038T>A	ENSP00000381758:p.Trp322Arg					CAPN11_uc011dvn.1_5'Flank	p.W322R	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1002	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		322			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.964T>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118639	0.77323	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.99319	-5.74;-5.74	3.82	3.82	0.43975	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.44688	D	0.000425	D	0.99775	0.9907	H	0.99949	5.025	0.47621	D	0.999476	D	0.89917	1.0	D	0.97110	1.0	D	0.96671	0.9496	10	0.87932	D	0	.	12.7736	0.57436	0.0:0.0:0.0:1.0	.	322	Q9UMQ6	CAN11_HUMAN	R	322	ENSP00000381758:W322R;ENSP00000441078:W322R	ENSP00000381758:W322R	W	+	1	0	CAPN11	44252016	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.832000	0.86757	1.977000	0.57605	0.459000	0.35465	TGG		0.597	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			29	30	0	0	0	0.012213	0	29	30				
GPR115	221393	broad.mit.edu	37	6	47684541	47684541	+	Splice_Site	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:47684541G>T	ENST00000283303.2	+	7	2190		c.e7-1		RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Splice_Site|GPR115_ENST00000371220.1_Splice_Site	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(2)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTTGCCACAGGGTTTTTTCA	0.393																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	2	Unknown(2)		lung(2)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.e7-1		G-protein coupled receptor 115 precursor							97.0	90.0	92.0					6																	47684541		2203	4300	6503	SO:0001630	splice_region_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47684541G>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1933-1G>T	6.37:g.47684541G>T						GPR115_uc003oyz.1_Splice_Site_p.G702_splice|GPR115_uc003ozb.1_Splice_Site_p.G643_splice	p.G645_splice	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			7	2191	+								B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Splice_Site	SNP	ENST00000283303.2	37	c.1933_splice	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395191	0.83011	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3763	0.87392	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR115	47792500	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.676000	0.84012	2.860000	0.98153	0.655000	0.94253	.		0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	Intron	20	23	1	0	2.37509e-13	0.010504	3.0465e-13	20	23				
PGK2	5232	broad.mit.edu	37	6	49754596	49754596	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:49754596G>C	ENST00000304801.3	-	1	457	c.305C>G	c.(304-306)gCa>gGa	p.A102G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	102					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.A102G(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCACTTCTGCGCCTACACA	0.532																																							uc003ozu.2		NA																	2	Substitution - Missense(2)	p.A102S(1)	lung(2)	ovary(1)	1						c.(304-306)GCA>GGA		phosphoglycerate kinase 2							120.0	113.0	116.0					6																	49754596		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754596G>C	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.305C>G	6.37:g.49754596G>C	ENSP00000305995:p.Ala102Gly						p.A102G	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	412	-	Lung NSC(77;0.0402)		102					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.305C>G	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.656991	0.14580	.	.	ENSG00000170950	ENST00000304801	D	0.92099	-2.97	4.09	2.23	0.28157	Phosphoglycerate kinase, N-terminal (1);	0.641145	0.17456	N	0.173605	T	0.77968	0.4210	L	0.39245	1.2	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.71862	-0.4464	10	0.66056	D	0.02	4.6424	6.8684	0.24106	0.0974:0.0:0.7287:0.174	.	102	P07205	PGK2_HUMAN	G	102	ENSP00000305995:A102G	ENSP00000305995:A102G	A	-	2	0	PGK2	49862555	0.730000	0.28100	0.030000	0.17652	0.184000	0.23303	4.039000	0.57325	0.626000	0.30322	0.585000	0.79938	GCA		0.532	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			41	38	0	0	0	0.006999	0	41	38				
DST	667	broad.mit.edu	37	6	56401663	56401663	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:56401663G>C	ENST00000361203.3	-	58	16058	c.16051C>G	c.(16051-16053)Cag>Gag	p.Q5351E	DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q3265E|DST_ENST00000421834.2_Missense_Mutation_p.Q3265E|DST_ENST00000446842.2_Missense_Mutation_p.Q5027E|DST_ENST00000244364.6_Missense_Mutation_p.Q2939E|DST_ENST00000370769.4_Missense_Mutation_p.Q5353E|DST_ENST00000370754.5_Missense_Mutation_p.Q5531E|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5351					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q5353E(1)|p.Q2939E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAGCACTCTGAATAAGGCCT	0.423																																							uc003pdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(10327-10329)CAG>GAG		dystonin isoform 2							137.0	136.0	136.0					6																	56401663		1992	4185	6177	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56401663G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16051C>G	6.37:g.56401663G>C	ENSP00000354508:p.Gln5351Glu					DST_uc003pcz.3_Missense_Mutation_p.Q3265E|DST_uc011dxj.1_Missense_Mutation_p.Q3294E|DST_uc011dxk.1_Missense_Mutation_p.Q3305E|DST_uc003pcy.3_Missense_Mutation_p.Q2939E	p.Q3443E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		56	10355	-	Lung NSC(77;0.103)		5351			Spectrin 7.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.10327C>G		.	.	.	.	.	.	.	.	.	.	G	21.5	4.160431	0.78226	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.79	5.79	0.91817	.	0.000000	0.49305	D	0.000141	T	0.65481	0.2695	M	0.83953	2.67	0.24605	N	0.99376	D;D;D;D;D	0.76494	0.995;0.997;0.994;0.997;0.999	D;D;D;D;D	0.83275	0.991;0.996;0.983;0.992;0.978	T	0.59815	-0.7383	9	0.20046	T	0.44	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	3265;5353;5531;5351;2939	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	2939;5531;5353;3265;5027;3265;5351	ENSP00000244364:Q2939E;ENSP00000359790:Q5531E;ENSP00000359805:Q5353E;ENSP00000400883:Q3265E;ENSP00000393645:Q5027E;ENSP00000359824:Q3265E;ENSP00000354508:Q5351E	ENSP00000244364:Q2939E	Q	-	1	0	DST	56509622	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.670000	0.98625	2.744000	0.94065	0.650000	0.86243	CAG		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	51	0	0	0	0.00308	0	7	51				
BAI3	577	broad.mit.edu	37	6	69640530	69640530	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:69640530A>G	ENST00000370598.1	+	4	1658	c.837A>G	c.(835-837)caA>caG	p.Q279Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	279					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q279Q(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTCAGGAACAAGCTGATGCTG	0.333																																							uc003pev.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(835-837)CAA>CAG		brain-specific angiogenesis inhibitor 3							98.0	94.0	96.0					6																	69640530		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69640530A>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.837A>G	6.37:g.69640530A>G						BAI3_uc010kak.2_Silent_p.Q279Q	p.Q279Q	NM_001704	NP_001695	O60242	BAI3_HUMAN			4	1285	+		all_lung(197;0.212)	279			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.837A>G	CCDS4968.1																																																																																				0.333	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			3	9	0	0	0	0.004672	0	3	9				
BAI3	577	broad.mit.edu	37	6	69758130	69758130	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:69758130C>G	ENST00000370598.1	+	14	2982	c.2161C>G	c.(2161-2163)Cca>Gca	p.P721A		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	721					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P721A(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCAACTTTCCAATGAAAGG	0.363																																							uc003pev.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2161-2163)CCA>GCA		brain-specific angiogenesis inhibitor 3							71.0	77.0	75.0					6																	69758130		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69758130C>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2161C>G	6.37:g.69758130C>G	ENSP00000359630:p.Pro721Ala					BAI3_uc010kak.2_Missense_Mutation_p.P721A	p.P721A	NM_001704	NP_001695	O60242	BAI3_HUMAN			14	2609	+		all_lung(197;0.212)	721			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2161C>G	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664230	0.88251	.	.	ENSG00000135298	ENST00000370598	T	0.30981	1.51	5.34	5.34	0.76211	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.66084	0.941	T	0.46707	-0.9172	10	0.87932	D	0	.	19.3965	0.94608	0.0:1.0:0.0:0.0	.	721	O60242	BAI3_HUMAN	A	721	ENSP00000359630:P721A	ENSP00000359630:P721A	P	+	1	0	BAI3	69814851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.664000	0.90586	0.655000	0.94253	CCA		0.363	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			15	6	0	0	0	0.004007	0	15	6				
COL9A1	1297	broad.mit.edu	37	6	71004033	71004033	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:71004033G>A	ENST00000357250.6	-	5	691	c.533C>T	c.(532-534)tCc>tTc	p.S178F	COL9A1_ENST00000370496.3_Missense_Mutation_p.S178F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	178	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.S178F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATGCCACTGGGAATCAAACAA	0.423																																							uc003pfg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(532-534)TCC>TTC		alpha 1 type IX collagen isoform 1 precursor							131.0	129.0	130.0					6																	71004033		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004033G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.533C>T	6.37:g.71004033G>A	ENSP00000349790:p.Ser178Phe						p.S178F	NM_001851	NP_001842	P20849	CO9A1_HUMAN			5	692	-			178			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.533C>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577126	0.65878	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.14144	4.38;2.53	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.213014	0.42821	D	0.000647	T	0.18299	0.0439	L	0.51422	1.61	0.80722	D	1	D	0.61697	0.99	P	0.56514	0.8	T	0.00080	-1.2110	10	0.66056	D	0.02	.	15.1085	0.72338	0.0:0.0:0.8584:0.1416	.	178	P20849	CO9A1_HUMAN	F	178	ENSP00000349790:S178F;ENSP00000359527:S178F	ENSP00000349790:S178F	S	-	2	0	COL9A1	71060754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.802000	0.62539	2.890000	0.99128	0.650000	0.86243	TCC		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			21	70	0	0	0	0.010504	0	21	70				
RNGTT	8732	broad.mit.edu	37	6	89638909	89638909	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:89638909G>C	ENST00000369485.4	-	3	438	c.252C>G	c.(250-252)atC>atG	p.I84M	RNGTT_ENST00000369475.3_Missense_Mutation_p.I84M|RNGTT_ENST00000538899.1_Missense_Mutation_p.I24M|RNGTT_ENST00000265607.6_Missense_Mutation_p.I84M	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	84	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)	p.I84M(2)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTATATATTTGATTCCTTCTT	0.269																																							uc003pmr.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(250-252)ATC>ATG		RNA guanylyltransferase and 5'-phosphatase							33.0	35.0	34.0					6																	89638909		2201	4287	6488	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89638909G>C	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.252C>G	6.37:g.89638909G>C	ENSP00000358497:p.Ile84Met					RNGTT_uc003pms.2_Missense_Mutation_p.I84M|RNGTT_uc011dzu.1_Missense_Mutation_p.I24M|RNGTT_uc003pmt.2_Missense_Mutation_p.I84M	p.I84M	NM_003800	NP_003791	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	3	472	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	84			TPase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.252C>G	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621277	0.46736	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.52	4.65	0.58169	Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.83692	2.655	0.58432	D	0.999999	B;B;B;B	0.33022	0.153;0.394;0.154;0.186	B;B;B;B	0.42692	0.148;0.395;0.177;0.271	D	0.86175	0.1602	10	0.49607	T	0.09	.	9.4016	0.38435	0.206:0.0:0.794:0.0	.	24;84;84;84	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	M	84;84;24;55;84	ENSP00000358497:I84M;ENSP00000265607:I84M;ENSP00000442609:I24M;ENSP00000358487:I84M	ENSP00000265607:I84M	I	-	3	3	RNGTT	89695628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.009000	0.29886	1.467000	0.48044	0.561000	0.74099	ATC		0.269	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			4	14	0	0	0	0.000602	0	4	14				
GABRR1	2569	broad.mit.edu	37	6	89890150	89890150	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:89890150G>C	ENST00000454853.2	-	9	1117	c.1007C>G	c.(1006-1008)cCg>cGg	p.P336R	GABRR1_ENST00000435811.1_Missense_Mutation_p.P319R|GABRR1_ENST00000369451.3_Missense_Mutation_p.P249R	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	336					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.P330R(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGAGACGCGCGGCATGGAGGC	0.532																																							uc003pna.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1006-1008)CCG>CGG		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						159.0	127.0	138.0					6																	89890150		2203	4300	6503	SO:0001583	missense	2569				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|GABA-A receptor activity	g.chr6:89890150G>C		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1007C>G	6.37:g.89890150G>C	ENSP00000412673:p.Pro336Arg					GABRR1_uc011dzv.1_Missense_Mutation_p.P313R	p.P336R	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	9	1462	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	336					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.1007C>G	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109639	0.77096	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.99382	-5.8;-5.8;-5.8	5.25	5.25	0.73442	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97558	1.0096	9	.	.	.	-15.2332	18.8726	0.92322	0.0:0.0:1.0:0.0	.	319;336	P24046-2;P24046	.;GBRR1_HUMAN	R	336;319;249;249	ENSP00000412673:P336R;ENSP00000394687:P319R;ENSP00000358463:P249R	.	P	-	2	0	GABRR1	89946869	1.000000	0.71417	0.960000	0.40013	0.414000	0.31173	9.869000	0.99810	2.435000	0.82474	0.557000	0.71058	CCG		0.532	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			28	43	0	0	0	0.012213	0	28	43				
UBE2J1	51465	broad.mit.edu	37	6	90039433	90039433	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:90039433G>A	ENST00000435041.2	-	8	1200	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	308					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.L308L(2)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCGTTTGCCAGATATATTCGT	0.403																																							uc010kcb.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(922-924)CTG>TTG		ubiquitin-conjugating enzyme E2, J1							84.0	77.0	80.0					6																	90039433		2203	4300	6503	SO:0001819	synonymous_variant	51465					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr6:90039433G>A	AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.922C>T	6.37:g.90039433G>A						UBE2J1_uc003pnc.2_Silent_p.L308L	p.L308L	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0139)	9	1095	-		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)	308			Lumenal (Potential).		A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Silent	SNP	ENST00000435041.2	37	c.922C>T	CCDS5021.1																																																																																				0.403	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021		19	17	0	0	0	0.008871	0	19	17				
BACH2	60468	broad.mit.edu	37	6	90642323	90642323	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:90642323G>T	ENST00000257749.4	-	9	3037	c.2330C>A	c.(2329-2331)cCc>cAc	p.P777H	BACH2_ENST00000537989.1_Missense_Mutation_p.P777H|BACH2_ENST00000343122.3_Missense_Mutation_p.P777H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	777						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.P777H(4)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGGGTCCGGGGGGAGCCGC	0.632																																							uc011eab.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2329-2331)CCC>CAC		BTB and CNC homology 1, basic leucine zipper							39.0	47.0	44.0					6																	90642323		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90642323G>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2330C>A	6.37:g.90642323G>T	ENSP00000257749:p.Pro777His					BACH2_uc003pnw.2_Missense_Mutation_p.P777H	p.P777H	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	9	3139	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	777					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.2330C>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439012	0.25900	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38077	1.16;1.16;1.16	4.98	4.03	0.46877	.	0.130407	0.53938	D	0.000043	T	0.17195	0.0413	L	0.34521	1.04	0.39202	D	0.963166	D	0.57257	0.979	P	0.46975	0.533	T	0.10222	-1.0639	10	0.72032	D	0.01	-25.8127	4.0377	0.09737	0.3072:0.0:0.6928:0.0	.	777	Q9BYV9	BACH2_HUMAN	H	777	ENSP00000257749:P777H;ENSP00000437473:P777H;ENSP00000345642:P777H	ENSP00000257749:P777H	P	-	2	0	BACH2	90699044	0.986000	0.35501	0.826000	0.32828	0.053000	0.15095	2.901000	0.48695	2.579000	0.87056	0.561000	0.74099	CCC		0.632	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		54	47	1	0	2.31418e-15	0.01441	3.03266e-15	54	47				
EPHA7	2045	broad.mit.edu	37	6	94068026	94068026	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:94068026A>C	ENST00000369303.4	-	4	1120	c.936T>G	c.(934-936)tgT>tgG	p.C312W		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	312	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.C312W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACCCATCTTCACATTCACATC	0.458																																							uc003poe.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(934-936)TGT>TGG		ephrin receptor EphA7 precursor							119.0	111.0	114.0					6																	94068026		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94068026A>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.936T>G	6.37:g.94068026A>C	ENSP00000358309:p.Cys312Trp					EPHA7_uc003pof.2_Missense_Mutation_p.C312W|EPHA7_uc011eac.1_Missense_Mutation_p.C312W	p.C312W	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	4	1177	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	312			Extracellular (Potential).|Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.936T>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394560	0.62066	.	.	ENSG00000135333	ENST00000369303	T	0.65916	-0.18	5.71	3.36	0.38483	Growth factor, receptor (1);	0.095363	0.64402	D	0.000001	T	0.73745	0.3626	M	0.88570	2.965	0.80722	D	1	P;D;D	0.76494	0.729;0.999;0.999	B;D;D	0.74674	0.365;0.97;0.984	T	0.77861	-0.2430	10	0.87932	D	0	.	10.5602	0.45142	0.8925:0.0:0.1075:0.0	.	312;312;312	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	W	312	ENSP00000358309:C312W	ENSP00000358309:C312W	C	-	3	2	EPHA7	94124747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.139000	0.50577	0.460000	0.27045	0.533000	0.62120	TGT		0.458	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			4	21	0	0	0	0.009096	0	4	21				
UFL1	23376	broad.mit.edu	37	6	96997630	96997631	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:96997630_96997631GG>TT	ENST00000369278.4	+	15	1839_1840	c.1773_1774GG>TT	c.(1771-1776)tcGGat>tcTTat	p.D592Y		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	592					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.D592Y(2)									TCTTAGCTTCGGATTTAATGAT	0.396																																							uc003por.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1771-1776)TCGGAT>TCTTAT		hypothetical protein LOC23376																																				SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96997630_96997631GG>TT	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	Exception_encountered	6.37:g.96997630_96997631delinsTT	ENSP00000358283:p.Asp592Tyr					KIAA0776_uc010kck.2_RNA	p.D592Y	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	15	1821_1822	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	592					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	DNP	ENST00000369278.4	37	c.1773_1774GG>TT	CCDS5034.1																																																																																				0.396	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		11	20	0	0	0	0.004672	0	11	20				
CCNC	892	broad.mit.edu	37	6	99997442	99997442	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:99997442C>T	ENST00000520429.1	-	9	985	c.540G>A	c.(538-540)gtG>gtA	p.V180V	CCNC_ENST00000518714.1_Silent_p.V180V|CCNC_ENST00000523799.1_Silent_p.V95V|CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000369220.4_Silent_p.V179V|CCNC_ENST00000520371.1_Silent_p.V180V|CCNC_ENST00000523985.1_Silent_p.V95V	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	180					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)		p.V180V(2)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGTATCATTCACTATCCTCC	0.363																																					GBM(57;273 1020 40094 44454 49348)	GBM(57;273 1020 40094 44454 49348)	uc003pqe.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(538-540)GTG>GTA		cyclin C isoform a							105.0	90.0	95.0					6																	99997442		2203	4300	6503	SO:0001819	synonymous_variant	892				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	g.chr6:99997442C>T		CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.540G>A	6.37:g.99997442C>T						uc003pqc.2_Intron|CCNC_uc003pqd.2_Silent_p.V95V|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Silent_p.V179V|CCNC_uc011eah.1_Silent_p.V95V	p.V180V	NM_005190	NP_005181	P24863	CCNC_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.064)	9	827	-		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	180					B4DPZ1|Q9H543	Silent	SNP	ENST00000520429.1	37	c.540G>A	CCDS34502.1																																																																																				0.363	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190		4	7	0	0	0	0.009096	0	4	7				
NR2E1	7101	broad.mit.edu	37	6	108502082	108502082	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:108502082G>T	ENST00000368986.4	+	7	1519	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	NR2E1_ENST00000368983.3_Missense_Mutation_p.V308L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	271	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V271L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TTTACAAGAGGTGGTGGCTCG	0.423																																							uc003psg.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(811-813)GTG>TTG		nuclear receptor subfamily 2, group E, member 1							140.0	131.0	134.0					6																	108502082		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108502082G>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.811G>T	6.37:g.108502082G>T	ENSP00000357982:p.Val271Leu						p.V271L	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	7	1566	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	271			Ligand-binding (By similarity).		Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.811G>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916003	0.52546	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96265	-3.96;-3.96	5.02	5.02	0.67125	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.056583	0.64402	D	0.000001	D	0.85927	0.5811	N	0.03050	-0.425	0.80722	D	1	B	0.14012	0.009	B	0.18561	0.022	T	0.80547	-0.1334	10	0.35671	T	0.21	.	18.5138	0.90928	0.0:0.0:1.0:0.0	.	271	Q9Y466	NR2E1_HUMAN	L	271;308	ENSP00000357982:V271L;ENSP00000357979:V308L	ENSP00000357979:V308L	V	+	1	0	NR2E1	108608775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.614000	0.88457	0.655000	0.94253	GTG		0.423	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			37	46	1	0	4.62619e-21	0.004289	6.26023e-21	37	46				
FIG4	9896	broad.mit.edu	37	6	110098260	110098260	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:110098260G>A	ENST00000230124.3	+	16	2010	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	FIG4_ENST00000441478.2_Missense_Mutation_p.R352K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	629					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.R629K(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CCAACAAGAAGAAGGTATTTT	0.353																																							uc003ptt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1885-1887)AGA>AAA		Sac domain-containing inositol phosphatase 3							47.0	50.0	49.0					6																	110098260		2203	4298	6501	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110098260G>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1886G>A	6.37:g.110098260G>A	ENSP00000230124:p.Arg629Lys					FIG4_uc011eau.1_Missense_Mutation_p.R352K	p.R629K	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	16	2101	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	629					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1886G>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830932	0.32329	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.51071	1.97;0.72	5.21	4.34	0.51931	.	0.222193	0.42294	D	0.000727	T	0.12603	0.0306	N	0.24115	0.695	0.35761	D	0.82014	B;B	0.28291	0.206;0.001	B;B	0.28011	0.085;0.001	T	0.06499	-1.0823	10	0.02654	T	1	-20.6422	11.9178	0.52776	0.1453:0.0:0.8547:0.0	.	352;629	F5H8L9;Q92562	.;FIG4_HUMAN	K	352;629	ENSP00000399443:R352K;ENSP00000230124:R629K	ENSP00000230124:R629K	R	+	2	0	FIG4	110204953	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.798000	0.38814	1.331000	0.45412	0.561000	0.74099	AGA		0.353	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		6	15	0	0	0	0.001168	0	6	15				
RSPH4A	345895	broad.mit.edu	37	6	116949479	116949479	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:116949479C>T	ENST00000229554.5	+	3	1746	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Silent_p.L537L	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	537	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.L537L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGATTGATCTAGTAGAATC	0.428									Kartagener syndrome																														uc003pxe.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1609-1611)CTA>TTA		radial spoke head 4 homolog A isoform 1							130.0	133.0	132.0					6																	116949479		2203	4300	6503	SO:0001819	synonymous_variant	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949479C>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1609C>T	6.37:g.116949479C>T						RSPH4A_uc010kee.2_Silent_p.L537L	p.L537L	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			3	1754	+			537			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	c.1609C>T	CCDS34521.1																																																																																				0.428	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		13	53	0	0	0	0.00245	0	13	53				
NKAIN2	154215	broad.mit.edu	37	6	124676442	124676442	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:124676442G>T	ENST00000368417.1	+	3	282	c.222G>T	c.(220-222)acG>acT	p.T74T	NKAIN2_ENST00000546092.1_Silent_p.T74T|NKAIN2_ENST00000368416.1_Silent_p.T74T|NKAIN2_ENST00000545433.1_Silent_p.T59T|NKAIN2_ENST00000476571.1_3'UTR	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T74T(2)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCTGGGTTACGTGGAATGTGT	0.388																																							uc003pzo.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(220-222)ACG>ACT		T-cell lymphoma breakpoint-associated target 1							306.0	279.0	288.0					6																	124676442		2203	4300	6503	SO:0001819	synonymous_variant	154215					integral to membrane|plasma membrane		g.chr6:124676442G>T	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.222G>T	6.37:g.124676442G>T						NKAIN2_uc003pzn.1_Silent_p.T74T|NKAIN2_uc003pzp.2_Silent_p.T73T|NKAIN2_uc010keq.2_Silent_p.T74T|NKAIN2_uc010ker.2_5'UTR	p.T74T	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	3	499	+			74			Helical; (Potential).		Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	c.222G>T	CCDS34526.1																																																																																				0.388	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		31	41	1	0	3.86903e-22	0.013726	5.27496e-22	31	41				
SOGA3	387104	broad.mit.edu	37	6	127796797	127796797	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:127796797G>A	ENST00000525778.1	-	6	3119	c.2374C>T	c.(2374-2376)Ctc>Ttc	p.L792F	SOGA3_ENST00000368268.2_Missense_Mutation_p.L792F|SOGA3_ENST00000465909.2_Missense_Mutation_p.L792F|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_Missense_Mutation_p.L792F|SOGA3_ENST00000481848.2_Missense_Mutation_p.L792F			Q5TF21	SOGA3_HUMAN	SOGA family member 3	792					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L792F(1)									GTGGGCGTGAGGCAGCGGATG	0.697																																							uc003qbd.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2374-2376)CTC>TTC		hypothetical protein LOC387104 precursor							22.0	28.0	26.0					6																	127796797		2125	4232	6357	SO:0001583	missense	387104					integral to membrane		g.chr6:127796797G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2374C>T	6.37:g.127796797G>A	ENSP00000434570:p.Leu792Phe					C6orf174_uc003qbc.2_5'UTR	p.L792F	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3239	-			792						Missense_Mutation	SNP	ENST00000525778.1	37	c.2374C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371596	0.61624	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.52	5.52	0.82312	.	0.059882	0.64402	D	0.000002	T	0.28764	0.0713	L	0.51422	1.61	0.80722	D	1	D	0.61080	0.989	P	0.58331	0.837	T	0.00920	-1.1514	10	0.37606	T	0.19	-14.0823	13.694	0.62567	0.0737:0.0:0.9263:0.0	.	792	Q5TF21	CF174_HUMAN	F	792	ENSP00000451768:L792F;ENSP00000357251:L792F;ENSP00000434570:L792F;ENSP00000435559:L792F	ENSP00000435559:L792F	L	-	1	0	C6orf174	127838490	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.257000	0.65473	2.593000	0.87608	0.462000	0.41574	CTC		0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		43	36	0	0	0	0.00874	0	43	36				
LAMA2	3908	broad.mit.edu	37	6	129649547	129649547	+	Missense_Mutation	SNP	C	C	T	rs368379507	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:129649547C>T	ENST00000421865.2	+	29	4350	c.4301C>T	c.(4300-4302)tCg>tTg	p.S1434L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1434	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.S1434L(3)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGAAACATCGATATGCCAG	0.537													C|||	4	0.000798722	0.0	0.0	5008	,	,		18212	0.0		0.0	False		,,,				2504	0.0041						uc003qbn.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(8)|breast(1)|skin(1)	10						c.(4300-4302)TCG>TTG		laminin alpha 2 subunit isoform a precursor		C	LEU/SER,LEU/SER	0,4406		0,0,2203	156.0	126.0	137.0		4301,4301	4.3	0.6	6		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1434/3123,1434/3119	129649547	1,13005	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129649547C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4301C>T	6.37:g.129649547C>T	ENSP00000400365:p.Ser1434Leu					LAMA2_uc003qbo.2_Missense_Mutation_p.S1434L	p.S1434L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4406	+			1434			Laminin EGF-like 15.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4301C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154097	0.78114	0.0	1.16E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.60040	0.22	5.15	4.27	0.50696	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	N	0.17312	0.475	0.47698	D	0.999494	D;D	0.69078	0.997;0.99	P;P	0.61132	0.884;0.758	T	0.59473	-0.7448	10	0.66056	D	0.02	.	15.5824	0.76455	0.0:0.8615:0.1385:0.0	.	1434;1434	A6NF00;P24043	.;LAMA2_HUMAN	L	1434	ENSP00000400365:S1434L	ENSP00000346769:S1434L	S	+	2	0	LAMA2	129691240	1.000000	0.71417	0.576000	0.28549	0.950000	0.60333	6.477000	0.73591	1.143000	0.42306	0.467000	0.42956	TCG		0.537	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			43	58	0	0	0	0.011902	0	43	58				
TMEM200A	114801	broad.mit.edu	37	6	130762590	130762590	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:130762590C>A	ENST00000296978.3	+	3	1894	c.1023C>A	c.(1021-1023)gtC>gtA	p.V341V	TMEM200A_ENST00000392429.1_Silent_p.V341V|TMEM200A_ENST00000545622.1_Silent_p.V341V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	341						integral component of membrane (GO:0016021)		p.V341V(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAGCCCGTCAGCACAGTGC	0.498																																							uc003qca.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1021-1023)GTC>GTA		transmembrane protein 200A							89.0	84.0	85.0					6																	130762590		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762590C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1023C>A	6.37:g.130762590C>A						TMEM200A_uc010kfh.2_Silent_p.V341V|TMEM200A_uc010kfi.2_Silent_p.V341V|TMEM200A_uc003qcb.2_Silent_p.V341V	p.V341V	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1894	+			341			Cytoplasmic (Potential).		Q96PX5	Silent	SNP	ENST00000296978.3	37	c.1023C>A	CCDS5140.1																																																																																				0.498	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		6	41	1	0	5.9392e-07	0.001168	6.8551e-07	6	41				
TMEM200A	114801	broad.mit.edu	37	6	130762655	130762655	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:130762655T>C	ENST00000296978.3	+	3	1959	c.1088T>C	c.(1087-1089)aTg>aCg	p.M363T	TMEM200A_ENST00000392429.1_Missense_Mutation_p.M363T|TMEM200A_ENST00000545622.1_Missense_Mutation_p.M363T	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	363						integral component of membrane (GO:0016021)		p.M363T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AAGTCATCTATGGCTCTCGGA	0.527																																							uc003qca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1087-1089)ATG>ACG		transmembrane protein 200A							81.0	81.0	81.0					6																	130762655		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762655T>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1088T>C	6.37:g.130762655T>C	ENSP00000296978:p.Met363Thr					TMEM200A_uc010kfh.2_Missense_Mutation_p.M363T|TMEM200A_uc010kfi.2_Missense_Mutation_p.M363T|TMEM200A_uc003qcb.2_Missense_Mutation_p.M363T	p.M363T	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1959	+			363			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1088T>C	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.087568	0.00367	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.333636	0.28544	N	0.014965	T	0.11281	0.0275	N	0.19112	0.55	0.30498	N	0.770725	B	0.02656	0.0	B	0.01281	0.0	T	0.08848	-1.0702	9	0.02654	T	1	-16.7613	10.6765	0.45789	0.0:0.0709:0.0:0.9291	.	363	Q86VY9	T200A_HUMAN	T	363	.	ENSP00000296978:M363T	M	+	2	0	TMEM200A	130804348	1.000000	0.71417	0.999000	0.59377	0.141000	0.21300	4.578000	0.60929	2.263000	0.75096	0.533000	0.62120	ATG		0.527	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		8	35	0	0	0	0.00308	0	8	35				
PDE7B	27115	broad.mit.edu	37	6	136512860	136512860	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:136512860A>T	ENST00000308191.6	+	13	1538	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	412					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.Q412L(2)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	AACAAGGCCCAGTGGAAGAGC	0.637																																							uc003qgp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1234-1236)CAG>CTG		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						42.0	37.0	38.0					6																	136512860		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136512860A>T	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1235A>T	6.37:g.136512860A>T	ENSP00000310661:p.Gln412Leu					uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.Q464L	p.Q412L	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	13	1538	+	Colorectal(23;0.24)		412					Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.1235A>T	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	A	2.291	-0.362530	0.05103	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.75821	-0.97	5.17	5.17	0.71159	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.198155	0.44285	D	0.000473	T	0.39911	0.1096	N	0.08118	0	0.42561	D	0.993146	B;B	0.26672	0.156;0.088	B;B	0.25759	0.037;0.063	T	0.43147	-0.9409	10	0.30078	T	0.28	.	13.8698	0.63612	1.0:0.0:0.0:0.0	.	464;412	A1E5M1;Q9NP56	.;PDE7B_HUMAN	L	412;548	ENSP00000310661:Q412L	ENSP00000310661:Q412L	Q	+	2	0	PDE7B	136554553	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	4.941000	0.63540	2.076000	0.62316	0.533000	0.62120	CAG		0.637	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			7	13	0	0	0	0.00308	0	7	13				
BCLAF1	9774	broad.mit.edu	37	6	136594296	136594296	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:136594296G>A	ENST00000531224.1	-	7	2134	c.1882C>T	c.(1882-1884)Cta>Tta	p.L628L	BCLAF1_ENST00000527759.1_Silent_p.L626L|BCLAF1_ENST00000527536.1_Silent_p.L628L|BCLAF1_ENST00000392348.2_Silent_p.L626L|BCLAF1_ENST00000353331.4_Silent_p.L626L|BCLAF1_ENST00000530767.1_Silent_p.L455L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	628					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.L628L(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)		CGCTCGTTTAGGGTCATTGCA	0.408																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1882-1884)CTA>TTA		BCL2-associated transcription factor 1 isoform							216.0	216.0	216.0					6																	136594296		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136594296G>A	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.1882C>T	6.37:g.136594296G>A						BCLAF1_uc003qgw.1_Silent_p.L455L|BCLAF1_uc003qgy.1_Silent_p.L626L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L626L	p.L628L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	7	2135	-	Colorectal(23;0.24)		628					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1882C>T	CCDS5177.1																																																																																				0.408	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		3	87	0	0	0	0.009096	0	3	87				
SHPRH	257218	broad.mit.edu	37	6	146256096	146256096	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:146256096C>A	ENST00000367505.2	-	13	3201	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	SHPRH_ENST00000438092.2_Missense_Mutation_p.Q979H|SHPRH_ENST00000367503.3_Missense_Mutation_p.Q979H|SHPRH_ENST00000275233.7_Missense_Mutation_p.Q979H			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	979					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)	p.Q979H(2)		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)		GACAGCAGGCCTGTCTGAGCC	0.443																																							uc003qlf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2935-2937)CAG>CAT		SNF2 histone linker PHD RING helicase isoform a							74.0	75.0	75.0					6																	146256096		1907	4130	6037	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146256096C>A	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.2937G>T	6.37:g.146256096C>A	ENSP00000356475:p.Gln979His					SHPRH_uc003qld.2_Missense_Mutation_p.Q979H|SHPRH_uc003qle.2_Missense_Mutation_p.Q979H|SHPRH_uc003qlg.1_Missense_Mutation_p.Q535H|SHPRH_uc003qlj.1_Missense_Mutation_p.Q868H|SHPRH_uc003qlh.2_5'Flank	p.Q979H	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	13	3336	-		Ovarian(120;0.0365)	979					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2937G>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	31	5.061001	0.93846	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	5.91	5.91	0.95273	SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.97876	0.9302	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.98212	1.0473	10	0.87932	D	0	-18.6772	20.2983	0.98569	0.0:1.0:0.0:0.0	.	868;979;979	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	H	979	ENSP00000356475:Q979H;ENSP00000356473:Q979H;ENSP00000412797:Q979H;ENSP00000275233:Q979H	ENSP00000275233:Q979H	Q	-	3	2	SHPRH	146297789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.971000	0.63749	2.802000	0.96397	0.655000	0.94253	CAG		0.443	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		20	20	1	0	1.56452e-12	0.007413	1.98922e-12	20	20				
SASH1	23328	broad.mit.edu	37	6	148846478	148846478	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:148846478G>T	ENST00000367467.3	+	11	1736	c.1261G>T	c.(1261-1263)Ggc>Tgc	p.G421C	AL033378.1_ENST00000411390.2_RNA	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	421					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.G421C(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCTGCACGTTGGCAGTAATAA	0.423																																							uc003qme.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1261-1263)GGC>TGC		SAM and SH3 domain containing 1							185.0	172.0	177.0					6																	148846478		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148846478G>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1261G>T	6.37:g.148846478G>T	ENSP00000356437:p.Gly421Cys					SASH1_uc011eeb.1_Missense_Mutation_p.G182C|SASH1_uc003qmf.1_5'UTR	p.G421C	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	11	1736	+		Ovarian(120;0.0169)	421					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1261G>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214783	0.79352	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.43294	0.95	5.63	4.76	0.60689	.	0.100219	0.64402	D	0.000002	T	0.46425	0.1392	L	0.44542	1.39	0.47308	D	0.999381	D;D	0.76494	0.999;0.999	D;D	0.70016	0.922;0.967	T	0.52653	-0.8547	10	0.72032	D	0.01	-20.1216	14.8434	0.70243	0.0692:0.0:0.9308:0.0	.	402;421	Q6P4R9;O94885	.;SASH1_HUMAN	C	421;182	ENSP00000356437:G421C	ENSP00000356437:G421C	G	+	1	0	SASH1	148888171	1.000000	0.71417	0.951000	0.38953	0.815000	0.46073	6.237000	0.72345	1.527000	0.49086	-0.136000	0.14681	GGC		0.423	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		46	61	1	0	1.5774e-09	0.01441	1.91824e-09	46	61				
C6orf211	79624	broad.mit.edu	37	6	151789697	151789697	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:151789697G>T	ENST00000367294.3	+	5	1037	c.778G>T	c.(778-780)Gtt>Ttt	p.V260F	C6orf211_ENST00000545879.1_Missense_Mutation_p.V141F	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	260								p.V260F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTTGAGCTTGTTACAGATTT	0.358																																							uc003qok.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(778-780)GTT>TTT		hypothetical protein LOC79624							135.0	138.0	137.0					6																	151789697		2203	4300	6503	SO:0001583	missense	79624						protein binding	g.chr6:151789697G>T	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.778G>T	6.37:g.151789697G>T	ENSP00000356263:p.Val260Phe					C6orf211_uc011ees.1_Missense_Mutation_p.V141F	p.V260F	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	1037	+			260					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.778G>T	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684183	0.14907	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.04502	3.61;3.61	6.02	-5.6	0.02497	Domain of unknown function DUF89 (2);	0.400878	0.26887	N	0.021998	T	0.00496	0.0016	N	0.20766	0.605	0.21499	N	0.999666	B	0.02656	0.0	B	0.06405	0.002	T	0.44742	-0.9308	10	0.02654	T	1	.	2.7981	0.05407	0.4553:0.089:0.2741:0.1815	.	260	Q9H993	CF211_HUMAN	F	260;141	ENSP00000356263:V260F;ENSP00000444121:V141F	ENSP00000356263:V260F	V	+	1	0	C6orf211	151831390	0.002000	0.14202	0.007000	0.13788	0.880000	0.50808	-0.092000	0.11129	-1.096000	0.03046	0.650000	0.86243	GTT		0.358	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		50	43	1	0	2.29192e-23	0.01441	3.13358e-23	50	43				
TIAM2	26230	broad.mit.edu	37	6	155500537	155500537	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:155500537C>A	ENST00000461783.3	+	14	3927	c.2654C>A	c.(2653-2655)cCa>cAa	p.P885Q	TIAM2_ENST00000456144.1_Missense_Mutation_p.P885Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.P909Q|TIAM2_ENST00000367174.2_Missense_Mutation_p.P261Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.P221Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.P197Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.P885Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.P885Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	885					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P885Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAAGTCTTTCCACTAAATGTT	0.373																																							uc003qqb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(2653-2655)CCA>CAA		T-cell lymphoma invasion and metastasis 2							235.0	233.0	234.0					6																	155500537		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500537C>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2654C>A	6.37:g.155500537C>A	ENSP00000437188:p.Pro885Gln					TIAM2_uc003qqe.2_Missense_Mutation_p.P885Q|TIAM2_uc010kjj.2_Missense_Mutation_p.P418Q|TIAM2_uc003qqf.2_Missense_Mutation_p.P261Q|TIAM2_uc011efl.1_Missense_Mutation_p.P221Q|TIAM2_uc003qqg.2_Missense_Mutation_p.P197Q	p.P885Q	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	14	3927	+		Ovarian(120;0.196)	885					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2654C>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176347	0.57692	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.09	5.09	0.68999	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.55834	1.745	0.44194	D	0.997019	P;D;D;D	0.62365	0.609;0.991;0.991;0.985	B;P;P;P	0.58130	0.168;0.785;0.833;0.614	T	0.31696	-0.9934	10	0.40728	T	0.16	.	17.0676	0.86563	0.0:1.0:0.0:0.0	.	221;885;909;885	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	Q	885;1131;885;885;885;261;909;885;197;221	ENSP00000437188:P885Q;ENSP00000434901:P885Q;ENSP00000407746:P885Q;ENSP00000327315:P885Q;ENSP00000356142:P261Q;ENSP00000353528:P909Q;ENSP00000433348:P885Q;ENSP00000407183:P197Q;ENSP00000435335:P221Q	ENSP00000327315:P885Q	P	+	2	0	TIAM2	155542229	0.988000	0.35896	0.791000	0.31998	0.218000	0.24690	4.304000	0.59104	2.537000	0.85549	0.655000	0.94253	CCA		0.373	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		26	34	1	0	8.24728e-16	0.004656	1.0847e-15	26	34				
SNX9	51429	broad.mit.edu	37	6	158342655	158342655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:158342655G>T	ENST00000392185.3	+	10	1213	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	348	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.E348*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTCAGAAAGTGAAGTTTTCCA	0.438																																							uc003qqv.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1042-1044)GAA>TAA		sorting nexin 9							86.0	81.0	83.0					6																	158342655		2203	4300	6503	SO:0001587	stop_gained	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158342655G>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1042G>T	6.37:g.158342655G>T	ENSP00000376024:p.Glu348*						p.E348*	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	10	1215	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	348			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Nonsense_Mutation	SNP	ENST00000392185.3	37	c.1042G>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	43	10.424686	0.99402	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	.	.	.	5.68	5.68	0.88126	.	0.167059	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.3781	17.9642	0.89094	0.0:0.0:1.0:0.0	.	.	.	.	X	348;348;148	.	ENSP00000252631:E148X	E	+	1	0	SNX9	158262643	1.000000	0.71417	0.805000	0.32314	0.653000	0.38743	9.325000	0.96381	2.159000	0.67721	0.459000	0.35465	GAA		0.438	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			8	16	1	0	0.00621372	0.006214	0.00639427	8	16				
IGF2R	3482	broad.mit.edu	37	6	160510217	160510217	+	Missense_Mutation	SNP	G	G	T	rs561422835		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:160510217G>T	ENST00000356956.1	+	43	6547	c.6399G>T	c.(6397-6399)caG>caT	p.Q2133H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2133					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.Q2133H(2)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGAGGTGCAGATGGTGAATG	0.502																																							uc003qta.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(6397-6399)CAG>CAT		insulin-like growth factor 2 receptor precursor							69.0	65.0	67.0					6																	160510217		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160510217G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6399G>T	6.37:g.160510217G>T	ENSP00000349437:p.Gln2133His						p.Q2133H	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	43	6547	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2133			14.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6399G>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858990	0.17178	.	.	ENSG00000197081	ENST00000356956	T	0.02177	4.41	5.03	-3.59	0.04583	Mannose-6-phosphate receptor, binding (1);	0.732533	0.13155	N	0.409548	T	0.00440	0.0014	N	0.22421	0.69	0.20307	N	0.999919	B	0.06786	0.001	B	0.08055	0.003	T	0.45220	-0.9276	10	0.37606	T	0.19	-18.3187	2.2874	0.04130	0.3328:0.3107:0.2571:0.0993	.	2133	P11717	MPRI_HUMAN	H	2133	ENSP00000349437:Q2133H	ENSP00000349437:Q2133H	Q	+	3	2	IGF2R	160430207	0.965000	0.33210	0.193000	0.23327	0.463000	0.32649	0.184000	0.16939	-0.516000	0.06470	-0.305000	0.09177	CAG		0.502	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		19	29	1	0	3.32936e-07	0.006122	3.86121e-07	19	29				
THBS2	7058	broad.mit.edu	37	6	169632775	169632775	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:169632775G>T	ENST00000366787.3	-	13	2165	c.1916C>A	c.(1915-1917)gCc>gAc	p.A639D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	639					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A639D(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCGTCTTGGCTGCTTCCAG	0.597																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(1915-1917)GCC>GAC		thrombospondin 2 precursor							75.0	81.0	79.0					6																	169632775		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632775G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1916C>A	6.37:g.169632775G>T	ENSP00000355751:p.Ala639Asp						p.A639D	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	13	2164	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	639			EGF-like 2; calcium-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1916C>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992773	0.54041	.	.	ENSG00000186340	ENST00000366787	D	0.81821	-1.54	4.1	4.1	0.47936	Epidermal growth factor-like (1);	0.000000	0.40728	U	0.001025	D	0.88247	0.6385	M	0.81239	2.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90442	0.4432	10	0.87932	D	0	-62.893	16.7015	0.85350	0.0:0.0:1.0:0.0	.	639	P35442	TSP2_HUMAN	D	639	ENSP00000355751:A639D	ENSP00000355751:A639D	A	-	2	0	THBS2	169374700	1.000000	0.71417	0.081000	0.20488	0.018000	0.09664	9.248000	0.95456	1.996000	0.58369	0.478000	0.44815	GCC		0.597	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		44	57	1	0	1.89013e-27	0.01441	2.62126e-27	44	57				
TBP	6908	broad.mit.edu	37	6	170871103	170871103	+	Silent	SNP	G	G	A	rs149441883	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr6:170871103G>A	ENST00000392092.2	+	3	558	c.279G>A	c.(277-279)caG>caA	p.Q93Q	TBP_ENST00000540980.1_Silent_p.Q73Q|TBP_ENST00000230354.6_Silent_p.Q93Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	93	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.		cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcaacaggcag	0.612													G|||	7	0.00139776	0.0015	0.0029	5008	,	,		13775	0.0		0.002	False		,,,				2504	0.001						uc003qxt.2		NA																	0				ovary(1)	1						c.(277-279)CAG>CAA		TATA box binding protein							28.0	33.0	31.0					6																	170871103		1986	3826	5812	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871103G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.279G>A	6.37:g.170871103G>A						TBP_uc003qxu.2_Silent_p.Q93Q|TBP_uc011ehf.1_Silent_p.Q73Q|TBP_uc011ehg.1_Silent_p.Q93Q	p.Q93Q	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	511	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	93		Missing.	Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.279G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	45	0	0	0	0.000602	0	4	45				
INTS1	26173	broad.mit.edu	37	7	1519959	1519959	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:1519959G>A	ENST00000404767.3	-	30	4153	c.4068C>T	c.(4066-4068)ttC>ttT	p.F1356F	INTS1_ENST00000389470.4_Silent_p.F1555F	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1356					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTGGAGGAACATGCCAG	0.662																																							uc003skn.2		NA																	0					0						c.(4066-4068)TTC>TTT		integrator complex subunit 1							32.0	36.0	35.0					7																	1519959		2095	4190	6285	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1519959G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4068C>T	7.37:g.1519959G>A							p.F1356F	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	30	4169	-		Ovarian(82;0.0253)	1356					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.4068C>T	CCDS47526.1																																																																																				0.662	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			5	18	0	0	0	0.000602	0	5	18				
INTS1	26173	broad.mit.edu	37	7	1523686	1523686	+	Missense_Mutation	SNP	C	C	G	rs200985889		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:1523686C>G	ENST00000404767.3	-	25	3467	c.3382G>C	c.(3382-3384)Gtg>Ctg	p.V1128L	INTS1_ENST00000389470.4_Missense_Mutation_p.V1290L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1128					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.V1290L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATGCGCCTCACGTAGCGTGAG	0.662																																							uc003skn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3382-3384)GTG>CTG		integrator complex subunit 1							87.0	98.0	94.0					7																	1523686		2169	4255	6424	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1523686C>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3382G>C	7.37:g.1523686C>G	ENSP00000385722:p.Val1128Leu					INTS1_uc003skp.1_Missense_Mutation_p.V475L	p.V1128L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	25	3483	-		Ovarian(82;0.0253)	1128					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3382G>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	0.807	-0.753408	0.03041	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.64991	-0.13;-0.13	4.94	4.94	0.65067	.	0.123344	0.56097	D	0.000038	T	0.31670	0.0804	N	0.03324	-0.35	0.36772	D	0.883849	B;B	0.14438	0.01;0.004	B;B	0.15870	0.008;0.014	T	0.36456	-0.9747	10	0.02654	T	1	.	9.5547	0.39332	0.0:0.8681:0.0:0.1319	.	1296;1128	A4D213;Q8N201	.;INT1_HUMAN	L	1128;1290	ENSP00000385722:V1128L;ENSP00000374121:V1290L	ENSP00000374121:V1290L	V	-	1	0	INTS1	1490212	1.000000	0.71417	0.874000	0.34290	0.536000	0.34869	3.548000	0.53670	2.296000	0.77279	0.561000	0.74099	GTG		0.662	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			21	44	0	0	0	0.012319	0	21	44				
TTYH3	80727	broad.mit.edu	37	7	2686509	2686509	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:2686509C>T	ENST00000258796.7	+	2	351	c.146C>T	c.(145-147)gCc>gTc	p.A49V	TTYH3_ENST00000403167.1_5'Flank|TTYH3_ENST00000407643.1_Missense_Mutation_p.A49V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	49					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGGGGGCCGCCGCCCTGGCC	0.726																																							uc003smp.2		NA																	0					0						c.(145-147)GCC>GTC		tweety 3							20.0	20.0	20.0					7																	2686509		2190	4291	6481	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2686509C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.146C>T	7.37:g.2686509C>T	ENSP00000258796:p.Ala49Val					TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank	p.A49V	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	2	333	+		Ovarian(82;0.0112)	49			Helical; Name=1; (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.146C>T	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	C	6.103	0.387274	0.11581	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000400376	T;T;T	0.08193	3.12;3.12;3.12	4.95	1.66	0.24008	.	0.394694	0.27039	N	0.021222	T	0.01835	0.0058	N	0.00991	-1.07	0.31427	N	0.67354	B	0.02656	0.0	B	0.04013	0.001	T	0.43376	-0.9395	10	0.02654	T	1	.	5.5395	0.17030	0.0:0.3662:0.0:0.6338	.	49	Q9C0H2	TTYH3_HUMAN	V	49;49;56	ENSP00000258796:A49V;ENSP00000385316:A49V;ENSP00000383227:A56V	ENSP00000258796:A49V	A	+	2	0	TTYH3	2653035	0.112000	0.22096	0.003000	0.11579	0.862000	0.49288	3.208000	0.51114	0.498000	0.27948	0.555000	0.69702	GCC		0.726	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		5	15	0	0	0	0.001984	0	5	15				
SDK1	221935	broad.mit.edu	37	7	4116637	4116637	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:4116637G>C	ENST00000404826.2	+	21	3157	c.3018G>C	c.(3016-3018)caG>caC	p.Q1006H	SDK1_ENST00000389531.3_Missense_Mutation_p.Q1006H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1006	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q1006H(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGGCTATCAGATCTCTTGGG	0.542																																							uc003smx.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)|ovary(2)|skin(1)	6						c.(3016-3018)CAG>CAC		sidekick 1 precursor							126.0	99.0	108.0					7																	4116637		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4116637G>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3018G>C	7.37:g.4116637G>C	ENSP00000385899:p.Gln1006His					SDK1_uc010kso.2_Missense_Mutation_p.Q282H	p.Q1006H	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	21	3157	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1006			Fibronectin type-III 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3018G>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568404	0.28003	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57907	0.37;0.37	5.37	3.22	0.36961	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.227140	0.32175	N	0.006462	T	0.52289	0.1725	L	0.42008	1.315	0.09310	N	1	P;P	0.48764	0.742;0.915	P;P	0.51229	0.482;0.663	T	0.43540	-0.9385	10	0.44086	T	0.13	.	11.2916	0.49254	0.2235:0.0:0.7765:0.0	.	1006;1006	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	H	1006	ENSP00000385899:Q1006H;ENSP00000374182:Q1006H	ENSP00000374182:Q1006H	Q	+	3	2	SDK1	4083163	0.998000	0.40836	0.119000	0.21687	0.105000	0.19272	2.481000	0.45215	1.275000	0.44379	0.650000	0.86243	CAG		0.542	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		9	32	0	0	0	0.004482	0	9	32				
PHF14	9678	broad.mit.edu	37	7	11022767	11022767	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:11022767C>T	ENST00000403050.3	+	3	1333	c.881C>T	c.(880-882)tCt>tTt	p.S294F	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	294					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S294F(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CTGACCCTATCTCAAAGCAAG	0.413																																							uc003sry.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(880-882)TCT>TTT		PHD finger protein 14 isoform 2							60.0	60.0	60.0					7																	11022767		1975	4147	6122	SO:0001583	missense	9678						zinc ion binding	g.chr7:11022767C>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.881C>T	7.37:g.11022767C>T	ENSP00000385795:p.Ser294Phe					PHF14_uc011jxi.1_Intron|PHF14_uc003srz.2_Missense_Mutation_p.S294F|PHF14_uc011jxj.1_Intron	p.S294F	NM_014660	NP_055475	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	3	1316	+			294					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.881C>T	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335366	0.60853	.	.	ENSG00000106443	ENST00000403050	T	0.30714	1.52	4.74	4.74	0.60224	.	0.187641	0.47852	D	0.000208	T	0.43875	0.1267	L	0.27053	0.805	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.75484	0.986;0.986	T	0.37842	-0.9688	10	0.46703	T	0.11	.	17.9159	0.88950	0.0:1.0:0.0:0.0	.	294;294	A8MSQ1;O94880	.;PHF14_HUMAN	F	294	ENSP00000385795:S294F	ENSP00000385795:S294F	S	+	2	0	PHF14	10989292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.447000	0.82792	0.655000	0.94253	TCT		0.413	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		3	15	0	0	0	0.009096	0	3	15				
THSD7A	221981	broad.mit.edu	37	7	11485703	11485703	+	Nonsense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:11485703T>A	ENST00000423059.4	-	13	3300	c.3049A>T	c.(3049-3051)Aga>Tga	p.R1017*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1017	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1017*(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGTTACATCTAGATGTTTCC	0.428										HNSCC(18;0.044)																													uc003ssf.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(3049-3051)AGA>TGA		thrombospondin, type I, domain containing 7A							284.0	261.0	268.0					7																	11485703		1936	4153	6089	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11485703T>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3049A>T	7.37:g.11485703T>A	ENSP00000406482:p.Arg1017*	HNSCC(18;0.044)					p.R1017*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3301	-			1017			TSP type-1 10.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.3049A>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	42	9.497438	0.99187	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.63	1.96	0.26148	.	0.048801	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	14.0336	0.64632	0.0:0.0:0.5353:0.4647	.	.	.	.	X	1017	.	ENSP00000262042:R1017X	R	-	1	2	THSD7A	11452228	1.000000	0.71417	0.976000	0.42696	0.864000	0.49448	3.942000	0.56614	0.388000	0.25054	0.528000	0.53228	AGA		0.428	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		28	73	0	0	0	0.007291	0	28	73				
TWISTNB	221830	broad.mit.edu	37	7	19748388	19748388	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:19748388C>G	ENST00000222567.5	-	1	322	c.252G>C	c.(250-252)gaG>gaC	p.E84D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	84					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.E84D(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATCGGTACCTCTCAGAATAGC	0.562											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003sup.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)GAG>GAC		TWIST neighbor							115.0	104.0	108.0					7																	19748388		2203	4300	6503	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19748388C>G	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.252G>C	7.37:g.19748388C>G	ENSP00000222567:p.Glu84Asp		OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735		p.E84D	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			1	273	-			84					A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.252G>C	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946280	0.73672	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	1.23	0.21249	RNA polymerase Rpb7, N-terminal (1);	0.310402	0.34828	N	0.003648	T	0.58906	0.2155	L	0.47190	1.495	0.41445	D	0.987941	D	0.58970	0.984	P	0.60173	0.87	T	0.53258	-0.8464	9	0.17369	T	0.5	-12.9631	9.0989	0.36656	0.0:0.7615:0.0:0.2385	.	84	Q3B726	RPA43_HUMAN	D	84	.	ENSP00000222567:E84D	E	-	3	2	TWISTNB	19714913	0.999000	0.42202	0.999000	0.59377	0.756000	0.42949	0.529000	0.23019	0.132000	0.18615	0.655000	0.94253	GAG		0.562	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			11	50	0	0	0	0.008291	0	11	50				
DNAH11	8701	broad.mit.edu	37	7	21723442	21723442	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:21723442G>A	ENST00000409508.3	+	32	5532	c.5501G>A	c.(5500-5502)cGt>cAt	p.R1834H	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1841H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1841	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1841H(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCAACTTCGTCACCGATGG	0.443									Kartagener syndrome																														uc003svc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5521-5523)CGT>CAT		dynein, axonemal, heavy chain 11							304.0	285.0	291.0					7																	21723442		1930	4120	6050	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21723442G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5501G>A	7.37:g.21723442G>A	ENSP00000475939:p.Arg1834His						p.R1841H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			33	5553	+			1841			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5522G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.112583	0.94339	.	.	ENSG00000105877	ENST00000328843	T	0.52526	0.66	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74825	-0.3533	9	0.87932	D	0	.	19.9467	0.97184	0.0:0.0:1.0:0.0	.	1841	Q96DT5	DYH11_HUMAN	H	1841	ENSP00000330671:R1841H	ENSP00000330671:R1841H	R	+	2	0	DNAH11	21689967	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.959000	0.87885	2.814000	0.96858	0.563000	0.77884	CGT		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		13	148	0	0	0	0.003163	0	13	148				
CDCA7L	55536	broad.mit.edu	37	7	21947917	21947917	+	Missense_Mutation	SNP	C	C	T	rs201734057		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:21947917C>T	ENST00000406877.3	-	4	791	c.512G>A	c.(511-513)cGc>cAc	p.R171H	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R137H|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R125H	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	171					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R171H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATTCTGTAAGCGTGCGCTAGA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20417	0.0		0.001	False		,,,				2504	0.0						uc010kuk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(511-513)CGC>CAC		cell division cycle associated 7-like isoform 1							95.0	85.0	89.0					7																	21947917		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21947917C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.512G>A	7.37:g.21947917C>T	ENSP00000383986:p.Arg171His					CDCA7L_uc003sve.3_Missense_Mutation_p.R137H|CDCA7L_uc010kul.2_Missense_Mutation_p.R125H|CDCA7L_uc003svf.3_Missense_Mutation_p.R170H|CDCA7L_uc011jyk.1_Missense_Mutation_p.R171H	p.R171H	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			4	632	-			171					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.512G>A	CCDS5374.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.456	0.643755	0.14451	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000457951	T;T;T;T	0.45276	0.9;0.91;0.91;0.95	5.95	-1.27	0.09347	.	1.522340	0.03774	N	0.260228	T	0.32526	0.0832	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25745	-1.0123	10	0.34782	T	0.22	-9.296	8.6903	0.34262	0.0:0.4287:0.1045:0.4669	.	171;125;171;170	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	H	137;171;125;124	ENSP00000348523:R137H;ENSP00000383986:R171H;ENSP00000363045:R125H;ENSP00000406616:R124H	ENSP00000348523:R137H	R	-	2	0	CDCA7L	21914442	0.000000	0.05858	0.001000	0.08648	0.160000	0.22226	-0.409000	0.07160	-0.126000	0.11682	-0.140000	0.14226	CGC		0.428	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		20	36	0	0	0	0.008871	0	20	36				
OSBPL3	26031	broad.mit.edu	37	7	24911677	24911677	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:24911677T>A	ENST00000313367.2	-	3	559	c.108A>T	c.(106-108)gaA>gaT	p.E36D	OSBPL3_ENST00000353930.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E36D|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E36D|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E36D	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	36					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.E36D(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTTCCACCACTTCCCAGCTGT	0.413																																							uc003sxf.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(106-108)GAA>GAT		oxysterol-binding protein-like protein 3 isoform							95.0	88.0	90.0					7																	24911677		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24911677T>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.108A>T	7.37:g.24911677T>A	ENSP00000315410:p.Glu36Asp					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.E36D|OSBPL3_uc003sxh.2_Missense_Mutation_p.E36D|OSBPL3_uc003sxi.2_Missense_Mutation_p.E36D	p.E36D	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			3	513	-			36					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.108A>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217873	0.79352	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069;ENST00000415162;ENST00000441059;ENST00000415952	T;T;T;T;T;T;T;T;T;T	0.29655	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;1.56	6.02	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	M	0.71581	2.175	0.51482	D	0.999925	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;0.997	T	0.48198	-0.9056	10	0.72032	D	0.01	-1.2736	9.2592	0.37601	0.0:0.2619:0.0:0.7381	.	36;36;36;36	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	D	36	ENSP00000315410:E36D;ENSP00000315331:E36D;ENSP00000315277:E36D;ENSP00000389779:E36D;ENSP00000379708:E36D;ENSP00000379706:E36D;ENSP00000386953:E36D;ENSP00000407829:E36D;ENSP00000403374:E36D;ENSP00000411249:E36D	ENSP00000315410:E36D	E	-	3	2	OSBPL3	24878202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.811000	0.27198	0.522000	0.28464	0.533000	0.62120	GAA		0.413	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			20	31	0	0	0	0.008871	0	20	31				
HOXA1	3198	broad.mit.edu	37	7	27135155	27135155	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:27135155C>A	ENST00000343060.4	-	1	438	c.377G>T	c.(376-378)tGc>tTc	p.C126F	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_Intron	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	126					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.C126F(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCGGGAGCGCACTGGGGGTA	0.567																																							uc003sye.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(376-378)TGC>TTC		homeobox A1 isoform a							76.0	80.0	78.0					7																	27135155		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135155C>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.377G>T	7.37:g.27135155C>A	ENSP00000343246:p.Cys126Phe					HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank	p.C126F	NM_005522	NP_005513	P49639	HXA1_HUMAN			1	471	-			126					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.377G>T	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625695	0.66901	.	.	ENSG00000105991	ENST00000343060	T	0.33654	1.4	4.88	4.88	0.63580	.	0.204858	0.52532	D	0.000067	T	0.55369	0.1916	M	0.66939	2.045	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.47971	-0.9075	10	0.21540	T	0.41	.	15.0535	0.71894	0.0:1.0:0.0:0.0	.	126	P49639	HXA1_HUMAN	F	126	ENSP00000343246:C126F	ENSP00000343246:C126F	C	-	2	0	HOXA1	27101680	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.083000	0.64456	2.543000	0.85770	0.462000	0.41574	TGC		0.567	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			19	83	1	0	5.35267e-07	0.007413	6.18796e-07	19	83				
HOXA4	3201	broad.mit.edu	37	7	27169157	27169157	+	Missense_Mutation	SNP	C	C	A	rs145032542	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:27169157C>A	ENST00000360046.5	-	2	715	c.650G>T	c.(649-651)cGc>cTc	p.R217L	HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.R217L|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	217					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R217L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGTTCGAGAGCGCTTAGGCTC	0.592																																							uc003sym.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(649-651)CGC>CTC		homeobox A4							62.0	61.0	62.0					7																	27169157		2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169157C>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.650G>T	7.37:g.27169157C>A	ENSP00000353151:p.Arg217Leu					HOXA3_uc003syk.2_5'Flank	p.R217L	NM_002141	NP_002132	Q00056	HXA4_HUMAN			2	697	-			217			Homeobox.		A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.650G>T	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.17|15.17	2.753414|2.753414	0.49362|0.49362	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000548581|ENST00000360046;ENST00000428284	.|D;D	.|0.97114	.|-4.25;-4.25	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.127964	.|0.31797	.|N	.|0.007058	D|D	0.99045|0.99045	0.9673|0.9673	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.99360|0.99360	1.0917|1.0917	6|10	0.87932|0.87932	D|D	0|0	.|.	18.9816|18.9816	0.92757|0.92757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|217	.|Q00056	.|HXA4_HUMAN	S|L	17|217	.|ENSP00000353151:R217L;ENSP00000408845:R217L	ENSP00000447249:A17S|ENSP00000353151:R217L	A|R	-|-	1|2	0|0	HOXA4|HOXA4	27135682|27135682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.788000|7.788000	0.85771|0.85771	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	GCT|CGC		0.592	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			16	57	1	0	0.006122	0.006122	0.00630884	16	57				
CREB5	9586	broad.mit.edu	37	7	28848855	28848855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:28848855C>T	ENST00000357727.2	+	9	1468	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q353*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q327*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q221*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q327*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	360					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q360*(1)|p.Q221*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACAGCCACCCCAGCCCACAGG	0.637																																							uc003szq.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(2)	2						c.(1078-1080)CAG>TAG		cAMP responsive element binding protein 5							51.0	56.0	54.0					7																	28848855		2203	4300	6503	SO:0001587	stop_gained	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28848855C>T	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1078C>T	7.37:g.28848855C>T	ENSP00000350359:p.Gln360*					CREB5_uc003szo.2_Nonsense_Mutation_p.Q327*|CREB5_uc003szr.2_Nonsense_Mutation_p.Q353*|CREB5_uc003szs.2_Nonsense_Mutation_p.Q221*	p.Q360*	NM_182898	NP_878901	Q02930	CREB5_HUMAN			9	1468	+			360					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Nonsense_Mutation	SNP	ENST00000357727.2	37	c.1078C>T	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808647	0.90707	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	.	.	.	6.17	6.17	0.99709	.	0.099682	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-19.6811	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	327;360;353;327;186;221	.	ENSP00000350359:Q360X	Q	+	1	0	CREB5	28815380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.852000	0.55934	2.941000	0.99782	0.655000	0.94253	CAG		0.637	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		10	96	0	0	0	0.008291	0	10	96				
GARS	2617	broad.mit.edu	37	7	30649288	30649288	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:30649288C>A	ENST00000389266.3	+	7	1064	c.823C>A	c.(823-825)Cca>Aca	p.P275T		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	275					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.P275T(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCTATCCCCTCCAGTGTCTTT	0.358																																							uc003tbm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(823-825)CCA>ACA		glycyl-tRNA synthetase	Glycine(DB00145)						109.0	105.0	106.0					7																	30649288		1825	4074	5899	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30649288C>A	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.823C>A	7.37:g.30649288C>A	ENSP00000373918:p.Pro275Thr						p.P275T	NM_002047	NP_002038	P41250	SYG_HUMAN			7	1180	+			275					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.823C>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017606	0.75161	.	.	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	5.75	4.87	0.63330	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91329	0.5088	10	0.87932	D	0	-10.1838	12.8925	0.58080	0.0:0.9212:0.0:0.0788	.	275	P41250	SYG_HUMAN	T	275	ENSP00000373918:P275T	ENSP00000373918:P275T	P	+	1	0	GARS	30615813	1.000000	0.71417	0.495000	0.27527	0.804000	0.45430	7.734000	0.84928	1.591000	0.50007	0.655000	0.94253	CCA		0.358	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		14	27	1	0	0.000151284	0.001855	0.000163198	14	27				
INMT	11185	broad.mit.edu	37	7	30793439	30793439	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:30793439C>G	ENST00000013222.5	+	2	263	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V	INMT_ENST00000409539.1_Missense_Mutation_p.L82V|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.L82V	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	83					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.L83V(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						AGACATCACTCTCTCCGACTT	0.567																																							uc003tbs.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(247-249)CTC>GTC		indolethylamine N-methyltransferase							217.0	202.0	207.0					7																	30793439		2203	4300	6503	SO:0001583	missense	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30793439C>G		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.247C>G	7.37:g.30793439C>G	ENSP00000013222:p.Leu83Val					FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.L82V	p.L83V	NM_006774	NP_006765	O95050	INMT_HUMAN			2	263	+			83					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	c.247C>G	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	C	0.984	-0.696144	0.03279	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.09538	2.97;2.97	4.07	-1.85	0.07784	.	1.767180	0.03672	N	0.244182	T	0.07052	0.0179	N	0.16790	0.44	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.39057	-0.9632	10	0.18276	T	0.48	-21.985	8.6251	0.33883	0.2595:0.2105:0.53:0.0	.	82;83	B8ZZ69;O95050	.;INMT_HUMAN	V	83;82	ENSP00000013222:L83V;ENSP00000386961:L82V	ENSP00000013222:L83V	L	+	1	0	INMT	30759964	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-0.291000	0.08343	-0.158000	0.11040	0.655000	0.94253	CTC		0.567	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		89	250	0	0	0	0.01441	0	89	250				
GHRHR	2692	broad.mit.edu	37	7	31011704	31011704	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31011704C>T	ENST00000326139.2	+	6	637	c.591C>T	c.(589-591)ttC>ttT	p.F197F	GHRHR_ENST00000409316.1_Missense_Mutation_p.S15F|GHRHR_ENST00000409904.3_Silent_p.F133F|GHRHR_ENST00000461424.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	197					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.F197F(2)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ACTGCAGCTTCTCCACTGTAA	0.582																																							uc003tbx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(589-591)TTC>TTT		growth hormone releasing hormone receptor	Sermorelin(DB00010)						72.0	56.0	61.0					7																	31011704		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31011704C>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.591C>T	7.37:g.31011704C>T						GHRHR_uc003tbw.1_Silent_p.F197F|GHRHR_uc003tby.2_Silent_p.F133F|GHRHR_uc003tbz.2_Missense_Mutation_p.S15F	p.F197F	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			6	639	+			197			Extracellular (Potential).		Q99863	Silent	SNP	ENST00000326139.2	37	c.591C>T	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	C	4.928	0.172342	0.09391	.	.	ENSG00000106128	ENST00000409316	.	.	.	4.42	3.52	0.40303	.	.	.	.	.	T	0.47930	0.1472	.	.	.	0.80722	D	1	P	0.52316	0.952	P	0.45310	0.476	T	0.41270	-0.9518	6	.	.	.	.	9.8779	0.41216	0.0:0.7807:0.2193:0.0	.	15	Q9HB43	.	F	15	.	.	S	+	2	0	GHRHR	30978229	0.996000	0.38824	1.000000	0.80357	0.079000	0.17450	0.384000	0.20668	1.011000	0.39340	0.561000	0.74099	TCT		0.582	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			10	30	0	0	0	0.010729	0	10	30				
NEUROD6	63974	broad.mit.edu	37	7	31378209	31378209	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31378209A>G	ENST00000297142.3	-	2	996	c.674T>C	c.(673-675)cTt>cCt	p.L225P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	225					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L225P(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAATTATCAAGAGTCCCATG	0.527																																							uc003tch.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(673-675)CTT>CCT		neurogenic differentiation 6							106.0	90.0	95.0					7																	31378209		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378209A>G	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.674T>C	7.37:g.31378209A>G	ENSP00000297142:p.Leu225Pro						p.L225P	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	1027	-			225					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.674T>C	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965860	0.34659	.	.	ENSG00000164600	ENST00000297142	T	0.64618	-0.11	5.32	5.32	0.75619	Neurogenic differentiation factor, domain of unknown function (1);	0.172567	0.52532	D	0.000080	T	0.68888	0.3050	L	0.40543	1.245	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.66224	-0.5977	10	0.29301	T	0.29	-20.6455	15.2875	0.73838	1.0:0.0:0.0:0.0	.	225	Q96NK8	NDF6_HUMAN	P	225	ENSP00000297142:L225P	ENSP00000297142:L225P	L	-	2	0	NEUROD6	31344734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.355000	0.73041	2.008000	0.58898	0.528000	0.53228	CTT		0.527	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		41	75	0	0	0	0.00874	0	41	75				
PDE1C	5137	broad.mit.edu	37	7	31793152	31793152	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31793152A>T	ENST00000396191.1	-	18	2431	c.1976T>A	c.(1975-1977)tTg>tAg	p.L659*	PDE1C_ENST00000321453.7_Nonsense_Mutation_p.L659*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.L719*	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	659					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.L659*(2)|p.L719*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AAAATGACGCAAAGGAGGCTT	0.483																																							uc003tcm.1		NA																	4	Substitution - Nonsense(4)		lung(4)	skin(3)|central_nervous_system(1)	4						c.(1975-1977)TTG>TAG		phosphodiesterase 1C							102.0	97.0	99.0					7																	31793152		876	1991	2867	SO:0001587	stop_gained	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31793152A>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1976T>A	7.37:g.31793152A>T	ENSP00000379494:p.Leu659*					PDE1C_uc003tcn.1_Nonsense_Mutation_p.L659*|PDE1C_uc003tco.1_Nonsense_Mutation_p.L719*	p.L659*	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		18	2445	-			659					B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP	ENST00000396191.1	37	c.1976T>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	A	42	9.489968	0.99186	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453	.	.	.	5.36	5.36	0.76844	.	1.184540	0.06013	N	0.649805	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9628	0.58468	1.0:0.0:0.0:0.0	.	.	.	.	X	719;659;659	.	ENSP00000318105:L659X	L	-	2	0	PDE1C	31759677	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	4.977000	0.63792	2.250000	0.74265	0.482000	0.46254	TTG		0.483	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			16	45	0	0	0	0.00499	0	16	45				
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:31877577C>T	ENST00000396191.1	-	10	1444	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000396184.3_Missense_Mutation_p.R330Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TACCAAGGTTCGAAACTCCCT	0.388																																							uc003tcm.1		NA																	6	Substitution - Missense(6)		lung(6)	skin(3)|central_nervous_system(1)	4						c.(988-990)CGA>CAA		phosphodiesterase 1C							177.0	181.0	180.0					7																	31877577		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31877577C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.989G>A	7.37:g.31877577C>T	ENSP00000379494:p.Arg330Gln					PDE1C_uc003tcn.1_Missense_Mutation_p.R330Q|PDE1C_uc003tco.1_Missense_Mutation_p.R390Q|PDE1C_uc003tcr.2_Missense_Mutation_p.R330Q|PDE1C_uc003tcs.2_Missense_Mutation_p.R330Q	p.R330Q	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		10	1458	-			330			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.989G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250320	0.95305	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.75	5.75	0.90469	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92231	0.7536	H	0.94222	3.51	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.61722	0.869;0.893;0.795	D	0.93834	0.7130	10	0.87932	D	0	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	330;390;330	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	Q	390;330;330;330;330	ENSP00000379496:R390Q;ENSP00000379494:R330Q;ENSP00000318105:R330Q;ENSP00000379487:R330Q;ENSP00000379485:R330Q	ENSP00000318105:R330Q	R	-	2	0	PDE1C	31844102	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.779000	0.85648	2.716000	0.92895	0.655000	0.94253	CGA		0.388	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			33	84	0	0	0	0.013726	0	33	84				
LSM5	23658	broad.mit.edu	37	7	32529942	32529942	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:32529942C>A	ENST00000450169.2	-	1	88	c.36G>T	c.(34-36)ctG>ctT	p.L12L	LSM5_ENST00000410044.1_5'UTR|LSM5_ENST00000409782.1_5'UTR|LSM5_ENST00000409292.1_5'Flank|LSM5_ENST00000409909.3_Intron|LSM5_ENST00000409952.3_Intron|LSM5_ENST00000409987.1_Silent_p.L12L	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	12					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.L12L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CTAAGGGCAGCAGCTGCGACG	0.617																																							uc003tct.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)CTG>CTT		LSM5 homolog, U6 small nuclear RNA associated							85.0	68.0	74.0					7																	32529942		2203	4300	6503	SO:0001819	synonymous_variant	23658				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr7:32529942C>A	AF182291	CCDS5438.1, CCDS47571.1	7p14.3	2003-02-17			ENSG00000106355	ENSG00000106355			17162	protein-coding gene	gene with protein product		607285				10369684, 12515382	Standard	NM_001130710		Approved	YER146W	uc003tct.2	Q9Y4Y9	OTTHUMG00000022913	ENST00000450169.2:c.36G>T	7.37:g.32529942C>A						LSM5_uc003tcu.2_RNA|LSM5_uc011kag.1_Intron|LSM5_uc011kah.1_Intron	p.L12L	NM_012322	NP_036454	Q9Y4Y9	LSM5_HUMAN	GBM - Glioblastoma multiforme(11;0.152)		1	82	-			12						Silent	SNP	ENST00000450169.2	37	c.36G>T	CCDS5438.1																																																																																				0.617	LSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215102.2			14	66	1	0	4.7546e-09	0.004007	5.75307e-09	14	66				
NPSR1	387129	broad.mit.edu	37	7	34889224	34889224	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:34889224A>T	ENST00000360581.1	+	9	1201	c.1073A>T	c.(1072-1074)gAg>gTg	p.E358V	NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.E292V|NPSR1_ENST00000381539.3_Nonstop_Mutation_p.*391C	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	358						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.E358V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAGAGAACTGAGAGGCATGAG	0.488																																							uc003teg.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(1072-1074)GAG>GTG		G protein-coupled receptor for asthma	Halothane(DB01159)						135.0	122.0	126.0					7																	34889224		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34889224A>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.1073A>T	7.37:g.34889224A>T	ENSP00000353788:p.Glu358Val					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Nonstop_Mutation_p.*391C|NPSR1_uc010kwt.1_Missense_Mutation_p.E205V|NPSR1_uc010kwu.1_Missense_Mutation_p.E148V|NPSR1_uc010kwv.1_Missense_Mutation_p.E292V|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	p.E358V	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			9	1201	+			358			Cytoplasmic (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.1073A>T	CCDS5444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.13|11.13	1.549242|1.549242	0.27652|0.27652	.|.	.|.	ENSG00000187258|ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000334481|ENST00000381539	T;T|.	0.76060|.	-0.83;-0.99|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|.	.|.	.|.	.|.	T|.	0.55513|.	0.1925|.	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	P;P|.	0.46220|.	0.874;0.624|.	P;B|.	0.45712|.	0.491;0.261|.	T|.	0.50566|.	-0.8813|.	9|.	0.52906|.	T|.	0.07|.	.|.	14.4679|14.4679	0.67497|0.67497	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	292;358|.	Q6W5P4-2;Q6W5P4|.	.;NPSR1_HUMAN|.	V|C	358;292;161|391	ENSP00000353788:E358V;ENSP00000370953:E292V|.	ENSP00000334093:E161V|.	E|X	+|+	2|3	0|0	NPSR1|NPSR1	34855749|34855749	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.088000|0.088000	0.18126|0.18126	5.820000|5.820000	0.69250|0.69250	2.203000|2.203000	0.70933|0.70933	0.454000|0.454000	0.30748|0.30748	GAG|TGA		0.488	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		26	68	0	0	0	0.00632	0	26	68				
EEPD1	80820	broad.mit.edu	37	7	36194191	36194191	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:36194191A>G	ENST00000242108.4	+	2	976	c.258A>G	c.(256-258)gtA>gtG	p.V86V	EEPD1_ENST00000534978.1_Silent_p.V86V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	86					DNA repair (GO:0006281)		DNA binding (GO:0003677)	p.V86V(2)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCAGTGGTGTAGGCGCCACCA	0.612																																							uc003tfa.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(256-258)GTA>GTG		endonuclease/exonuclease/phosphatase family							77.0	75.0	76.0					7																	36194191		2203	4300	6503	SO:0001819	synonymous_variant	80820				DNA repair		DNA binding	g.chr7:36194191A>G	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.258A>G	7.37:g.36194191A>G							p.V86V	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			2	898	+			86					Q96K64|Q9C0F7	Silent	SNP	ENST00000242108.4	37	c.258A>G	CCDS34619.1																																																																																				0.612	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		23	68	0	0	0	0.00278	0	23	68				
EEPD1	80820	broad.mit.edu	37	7	36336752	36336752	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:36336752T>C	ENST00000242108.4	+	7	2184	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P	EEPD1_ENST00000534978.1_Missense_Mutation_p.L489P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	489					DNA repair (GO:0006281)		DNA binding (GO:0003677)	p.L489P(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCGAAGTCTCTGGACAACATC	0.463																																							uc003tfa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1465-1467)CTG>CCG		endonuclease/exonuclease/phosphatase family							130.0	121.0	124.0					7																	36336752		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36336752T>C	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1466T>C	7.37:g.36336752T>C	ENSP00000242108:p.Leu489Pro						p.L489P	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			7	2106	+			489					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.1466T>C	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582648	0.86748	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95756	-3.8;-3.8	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);	0.072209	0.64402	D	0.000020	D	0.96577	0.8883	L	0.60455	1.87	0.80722	D	1	D	0.62365	0.991	P	0.60541	0.876	D	0.97047	0.9761	10	0.72032	D	0.01	-12.7973	15.9281	0.79635	0.0:0.0:0.0:1.0	.	489	Q7L9B9	EEPD1_HUMAN	P	489	ENSP00000242108:L489P;ENSP00000442692:L489P	ENSP00000242108:L489P	L	+	2	0	EEPD1	36303277	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.945000	0.70226	2.231000	0.72958	0.459000	0.35465	CTG		0.463	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		3	25	0	0	0	0.009096	0	3	25				
CDK13	8621	broad.mit.edu	37	7	40134118	40134118	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:40134118G>C	ENST00000181839.4	+	14	4683	c.4078G>C	c.(4078-4080)Gct>Cct	p.A1360P	CDK13_ENST00000340829.5_Missense_Mutation_p.A1300P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1360					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.A1360P(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGCAGTTCTGCTCCACCACT	0.438																																							uc003thh.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|ovary(1)	5						c.(4078-4080)GCT>CCT		cell division cycle 2-like 5 isoform 1							184.0	180.0	182.0					7																	40134118		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40134118G>C	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4078G>C	7.37:g.40134118G>C	ENSP00000181839:p.Ala1360Pro					CDK13_uc003thi.3_Missense_Mutation_p.A1300P|CDK13_uc003thj.2_Missense_Mutation_p.A411P|CDK13_uc003thk.2_Missense_Mutation_p.A293P	p.A1360P	NM_003718	NP_003709	Q14004	CDK13_HUMAN			14	4360	+			1360					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.4078G>C	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837894	0.50951	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.47528	0.84;0.84	5.54	5.54	0.83059	.	.	.	.	.	T	0.33760	0.0874	N	0.04508	-0.205	0.31124	N	0.708511	P;P	0.52316	0.908;0.952	P;P	0.48454	0.578;0.502	T	0.20306	-1.0279	8	.	.	.	-5.0493	14.2395	0.65948	0.0:0.0:0.8145:0.1855	.	1300;1360	Q14004-2;Q14004	.;CDK13_HUMAN	P	1360;1300	ENSP00000181839:A1360P;ENSP00000340557:A1300P	.	A	+	1	0	CDK13	40100643	0.993000	0.37304	1.000000	0.80357	0.940000	0.58332	2.786000	0.47790	2.603000	0.88011	0.655000	0.94253	GCT		0.438	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		32	81	0	0	0	0.008361	0	32	81				
AEBP1	165	broad.mit.edu	37	7	44149840	44149840	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:44149840C>A	ENST00000223357.3	+	11	1600	c.1295C>A	c.(1294-1296)gCg>gAg	p.A432E	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	432	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A432E(2)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TATGATGGTGCGTGGTGTGCC	0.632																																							uc003tkb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1294-1296)GCG>GAG		adipocyte enhancer binding protein 1 precursor							109.0	89.0	96.0					7																	44149840		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44149840C>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1295C>A	7.37:g.44149840C>A	ENSP00000223357:p.Ala432Glu					AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	p.A432E	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			11	1600	+			432			Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.1295C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.868148	0.72065	.	.	ENSG00000106624	ENST00000223357	D	0.97906	-4.6	5.24	5.24	0.73138	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99060	1.0830	10	0.87932	D	0	-39.1436	18.4274	0.90613	0.0:1.0:0.0:0.0	.	432	Q8IUX7	AEBP1_HUMAN	E	432	ENSP00000223357:A432E	ENSP00000223357:A432E	A	+	2	0	AEBP1	44116365	1.000000	0.71417	0.478000	0.27316	0.006000	0.05464	7.651000	0.83577	2.458000	0.83093	0.561000	0.74099	GCG		0.632	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		14	44	1	0	1.5842e-08	0.001855	1.8979e-08	14	44				
GCK	2645	broad.mit.edu	37	7	44184835	44184835	+	Missense_Mutation	SNP	C	C	T	rs193922274		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:44184835C>T	ENST00000403799.3	-	10	1767	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	GCK_ENST00000395796.3_Missense_Mutation_p.S432N|GCK_ENST00000437084.1_Missense_Mutation_p.S416N|GCK_ENST00000345378.2_Missense_Mutation_p.S434N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	433	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.S433N(1)|p.S434N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATCTCGCAGCTGGGCGTCAG	0.657																																							uc003tkl.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|lung(1)	4						c.(1297-1299)AGC>AAC		glucokinase isoform 1							26.0	29.0	28.0					7																	44184835		2203	4299	6502	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44184835C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1298G>A	7.37:g.44184835C>T	ENSP00000384247:p.Ser433Asn					GCK_uc003tkh.1_Missense_Mutation_p.S106N|GCK_uc003tki.1_Missense_Mutation_p.S111N|GCK_uc003tkj.1_Missense_Mutation_p.S432N|GCK_uc003tkk.1_Missense_Mutation_p.S434N	p.S433N	NM_000162	NP_000153	P35557	HXK4_HUMAN			10	1768	-			433					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1298G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049474	0.36181	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68;-4.68	5.83	4.02	0.46733	Hexokinase, C-terminal (1);	0.418331	0.31834	N	0.006982	D	0.89989	0.6875	N	0.02181	-0.65	0.28786	N	0.899561	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.81057	-0.1105	10	0.15499	T	0.54	-34.0889	11.5224	0.50560	0.0:0.8523:0.0:0.1477	.	433;434;432;416;433	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	N	117;433;432;434;416	ENSP00000338009:S117N;ENSP00000384247:S433N;ENSP00000379142:S432N;ENSP00000223366:S434N;ENSP00000402840:S416N	ENSP00000338009:S117N	S	-	2	0	GCK	44151360	0.097000	0.21791	1.000000	0.80357	0.994000	0.84299	0.481000	0.22260	0.796000	0.33947	0.561000	0.74099	AGC		0.657	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			10	22	0	0	0	0.006214	0	10	22				
H2AFV	94239	broad.mit.edu	37	7	44875224	44875224	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:44875224G>C	ENST00000308153.4	-	4	320	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	H2AFV_ENST00000446531.1_Missense_Mutation_p.L77V|H2AFV_ENST00000350771.3_Missense_Mutation_p.L51V|H2AFV_ENST00000349299.3_Missense_Mutation_p.L39V|H2AFV_ENST00000222690.6_Missense_Mutation_p.L77V|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000437072.1_Missense_Mutation_p.L39V|H2AFV_ENST00000521529.1_Intron	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	77						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L77V(1)|p.L77I(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TTTACTTTGAGATCCTTAGAA	0.463																																							uc003tma.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(229-231)CTC>GTC		H2A histone family, member V isoform 1							112.0	93.0	99.0					7																	44875224		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44875224G>C	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.229C>G	7.37:g.44875224G>C	ENSP00000308405:p.Leu77Val					H2AFV_uc003tlz.2_Missense_Mutation_p.L77V|H2AFV_uc011kca.1_5'Flank|H2AFV_uc003tmb.2_Missense_Mutation_p.L39V|H2AFV_uc003tmc.2_Intron|H2AFV_uc003tmd.2_Missense_Mutation_p.L51V	p.L77V	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN			4	384	-			77					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.229C>G	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180624	0.78677	.	.	ENSG00000105968	ENST00000222690;ENST00000437072;ENST00000349299;ENST00000308153;ENST00000350771;ENST00000446531	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.68	4.79	0.61399	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	D	0.84079	0.5393	M	0.92738	3.34	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.983;0.992;0.985	D;D;D;D	0.72338	0.911;0.943;0.977;0.928	D	0.85562	0.1228	9	0.44086	T	0.13	-11.944	12.9118	0.58184	0.0809:0.0:0.9191:0.0	.	51;39;77;77	A6NKY0;A6NFA8;Q71UI9;A6NN01	.;.;H2AV_HUMAN;.	V	77;39;39;77;51;77	ENSP00000222690:L77V;ENSP00000397115:L39V;ENSP00000342714:L39V;ENSP00000308405:L77V;ENSP00000340708:L51V;ENSP00000406901:L77V	ENSP00000222690:L77V	L	-	1	0	H2AFV	44841749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.515000	0.53429	2.698000	0.92095	0.585000	0.79938	CTC		0.463	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		8	37	0	0	0	0.004482	0	8	37				
TNS3	64759	broad.mit.edu	37	7	47343137	47343137	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:47343137G>T	ENST00000398879.1	-	22	3234	c.2868C>A	c.(2866-2868)ccC>ccA	p.P956P	TNS3_ENST00000311160.9_Silent_p.P956P|TNS3_ENST00000355730.3_Silent_p.P716P			Q68CZ2	TENS3_HUMAN	tensin 3	956					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.P956P(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGAAACCATGGGCTTGGGGC	0.607																																							uc003tnv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2866-2868)CCC>CCA		tensin 3							13.0	17.0	16.0					7																	47343137		2018	4178	6196	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47343137G>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2868C>A	7.37:g.47343137G>T						TNS3_uc003tnw.2_Silent_p.P956P	p.P956P	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			22	3235	-			956					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.2868C>A	CCDS5506.2																																																																																				0.607	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		5	24	1	0	0.000602214	0.000602	0.000636401	5	24				
PKD1L1	168507	broad.mit.edu	37	7	47882629	47882629	+	Silent	SNP	C	C	A	rs148252365		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:47882629C>A	ENST00000289672.2	-	34	5426	c.5376G>T	c.(5374-5376)ctG>ctT	p.L1792L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1792					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L1792L(3)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGGCCCGGCAGGGAAGCTT	0.468																																							uc003tny.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5374-5376)CTG>CTT		polycystin-1L1							60.0	61.0	60.0					7																	47882629		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47882629C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5376G>T	7.37:g.47882629C>A							p.L1792L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			34	5376	-			1792			Cytoplasmic (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.5376G>T	CCDS34633.1																																																																																				0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		24	58	1	0	1.74197e-06	0.00632	1.98848e-06	24	58				
VWC2	375567	broad.mit.edu	37	7	49842403	49842403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:49842403G>T	ENST00000340652.4	+	3	1349	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	265	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)		p.E265*(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCCTGTGTACGAGCCTGATCA	0.577																																							uc003tot.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(793-795)GAG>TAG		von Willebrand factor C domain containing 2							271.0	179.0	211.0					7																	49842403		2203	4300	6503	SO:0001587	stop_gained	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842403G>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.793G>T	7.37:g.49842403G>T	ENSP00000341819:p.Glu265*						p.E265*	NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN			3	1349	+			265			VWFC 2.		Q6UXE2	Nonsense_Mutation	SNP	ENST00000340652.4	37	c.793G>T	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	44	10.820704	0.99473	.	.	ENSG00000188730	ENST00000340652	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	19.0139	0.92886	0.0:0.0:1.0:0.0	.	.	.	.	X	265	.	ENSP00000341819:E265X	E	+	1	0	VWC2	49812949	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.869000	0.99810	2.484000	0.83849	0.650000	0.86243	GAG		0.577	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		18	40	1	0	9.16793e-09	0.00499	1.10106e-08	18	40				
COBL	23242	broad.mit.edu	37	7	51261234	51261234	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:51261234G>T	ENST00000265136.7	-	3	463	c.298C>A	c.(298-300)Cca>Aca	p.P100T	COBL_ENST00000441453.1_Missense_Mutation_p.P100T|COBL_ENST00000395542.2_Missense_Mutation_p.P100T|COBL_ENST00000395540.2_Missense_Mutation_p.P100T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	100					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.P100T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTGGGATGGATTCAGGTGG	0.423																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(298-300)CCA>ACA		cordon-bleu homolog							93.0	82.0	86.0					7																	51261234		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51261234G>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.298C>A	7.37:g.51261234G>T	ENSP00000265136:p.Pro100Thr					COBL_uc003tps.2_Missense_Mutation_p.P100T|COBL_uc011kcl.1_Missense_Mutation_p.P100T|COBL_uc010kzc.2_Missense_Mutation_p.P100T|COBL_uc003tpt.2_Missense_Mutation_p.P100T|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Missense_Mutation_p.P16T	p.P100T	NM_015198	NP_056013	O75128	COBL_HUMAN			3	483	-	Glioma(55;0.08)		100					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.298C>A	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.896061|4.896061	0.91962|0.91962	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281|ENST00000452534	T;T|.	0.36699|.	1.55;1.24|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Cordon-bleu domain (1);|.	0.000000|.	0.39407|.	N|.	0.001379|.	D|D	0.82903|0.82903	0.5138|0.5138	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;0.999;1.0;0.999|.	D|D	0.84151|0.84151	0.0423|0.0423	10|5	0.72032|.	D|.	0.01|.	.|.	18.5559|18.5559	0.91085|0.91085	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	100;100;100;100;100|.	O75128-3;O75128-5;O75128-7;O75128;O75128-2|.	.;.;.;COBL_HUMAN;.|.	T|Y	100;100;100;100;84|18	ENSP00000265136:P100T;ENSP00000378912:P100T|.	ENSP00000265136:P100T|.	P|S	-|-	1|2	0|0	COBL|COBL	51228728|51228728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.437000|9.437000	0.97535|0.97535	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.423	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		10	20	1	0	1.58986e-06	0.008291	1.81627e-06	10	20				
POM121L12	285877	broad.mit.edu	37	7	53103547	53103547	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:53103547C>T	ENST00000408890.4	+	1	199	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	61								p.S61S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGACTCAGAGCCATATTCAGT	0.701																																							uc003tpz.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(181-183)AGC>AGT		POM121 membrane glycoprotein-like 12							29.0	35.0	33.0					7																	53103547		1957	4152	6109	SO:0001819	synonymous_variant	285877							g.chr7:53103547C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.183C>T	7.37:g.53103547C>T							p.S61S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	199	+			61					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.183C>T	CCDS43584.1																																																																																				0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		27	57	0	0	0	0.003954	0	27	57				
POM121L12	285877	broad.mit.edu	37	7	53103731	53103731	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:53103731G>T	ENST00000408890.4	+	1	383	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	123								p.G123W(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATGAAAGGGGGGCTGTGTCG	0.701																																							uc003tpz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(367-369)GGG>TGG		POM121 membrane glycoprotein-like 12							29.0	35.0	33.0					7																	53103731		1986	4133	6119	SO:0001583	missense	285877							g.chr7:53103731G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.367G>T	7.37:g.53103731G>T	ENSP00000386133:p.Gly123Trp						p.G123W	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	383	+			123					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.367G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	5.572	0.290336	0.10567	.	.	ENSG00000221900	ENST00000408890	T	0.22134	1.97	2.52	-5.04	0.02964	.	.	.	.	.	T	0.06735	0.0172	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.36089	-0.9762	9	0.62326	D	0.03	.	5.9635	0.19313	0.0:0.2673:0.5251:0.2076	.	123	Q8N7R1	P1L12_HUMAN	W	123	ENSP00000386133:G123W	ENSP00000386133:G123W	G	+	1	0	POM121L12	53071225	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.620000	0.02046	-1.211000	0.02624	-0.521000	0.04368	GGG		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		14	43	1	0	2.23348e-06	0.004007	2.53163e-06	14	43				
EGFR	1956	broad.mit.edu	37	7	55259501	55259501	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:55259501C>T	ENST00000275493.2	+	21	2736	c.2559C>T	c.(2557-2559)atC>atT	p.I853I	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.I800I|EGFR_ENST00000455089.1_Silent_p.I808I|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	853	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.I853I(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATGTCAAGATCACAGATTTTG	0.532		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		2	Substitution - coding silent(2)	p.I853T(1)|p.I853I(1)	ovary(1)|lung(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2557-2559)ATC>ATT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						112.0	103.0	106.0					7																	55259501		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259501C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2559C>T	7.37:g.55259501C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Silent_p.I808I|EGFR_uc011kco.1_Silent_p.I800I|uc003tqo.2_5'Flank	p.I853I	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2805	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		853			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.2559C>T	CCDS5514.1																																																																																				0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		8	72	0	0	0	0.00308	0	8	72				
ZNF713	349075	broad.mit.edu	37	7	55990964	55990965	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:55990964_55990965GG>CC	ENST00000429591.2	+	2	196_197	c.158_159GG>CC	c.(157-159)aGG>aCC	p.R53T	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.R53T	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R53T(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAACTACAGGAATCTAGTTG	0.51																																							uc003trc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(157-159)AGG>ACC		zinc finger protein 713																																				SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:55990964_55990965GG>CC	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	Exception_encountered	7.37:g.55990964_55990965delinsCC	ENSP00000416662:p.Arg53Thr					ZNF713_uc003tra.1_Missense_Mutation_p.R66T|MRPS17_uc003trb.2_Missense_Mutation_p.R53T	p.R53T	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	196_197	+	Breast(14;0.214)		53			KRAB.			Missense_Mutation	DNP	ENST00000429591.2	37	c.158_159GG>CC	CCDS34639.1																																																																																				0.510	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		23	56	0	0	0	0.004672	0	23	56				
POM121	9883	broad.mit.edu	37	7	72409924	72409924	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:72409924G>A	ENST00000434423.2	+	7	1417	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	POM121_ENST00000446813.1_Missense_Mutation_p.D208N|POM121_ENST00000257622.4_Missense_Mutation_p.D208N|POM121_ENST00000395270.1_Missense_Mutation_p.D208N|POM121_ENST00000358357.3_Missense_Mutation_p.D208N			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	473	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.D208N(4)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTGGCAGCAGACAGGGAGTC	0.488																																							uc003twk.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1417-1419)GAC>AAC		nuclear pore membrane protein 121							80.0	80.0	80.0					7																	72409924		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72409924G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1417G>A	7.37:g.72409924G>A	ENSP00000405562:p.Asp473Asn					POM121_uc003twj.2_Missense_Mutation_p.D208N|POM121_uc010lam.1_Missense_Mutation_p.D208N	p.D473N	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			7	1417	+		Lung NSC(55;0.163)	473			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.1417G>A		.	.	.	.	.	.	.	.	.	.	G	14.94	2.683984	0.47991	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	3.31	3.31	0.37934	.	0.000000	0.41605	D	0.000847	T	0.31167	0.0788	M	0.72894	2.215	0.28718	N	0.9032	D;D	0.67145	0.996;0.992	P;P	0.62885	0.9;0.908	T	0.05989	-1.0852	10	0.72032	D	0.01	.	11.8309	0.52295	0.0:0.0:1.0:0.0	.	208;473	A8MXF9;Q96HA1	.;P121A_HUMAN	N	208;208;208;208;473	ENSP00000393020:D208N;ENSP00000257622:D208N;ENSP00000378687:D208N;ENSP00000351124:D208N;ENSP00000405562:D473N	ENSP00000257622:D208N	D	+	1	0	POM121	72047860	1.000000	0.71417	0.843000	0.33291	0.006000	0.05464	4.764000	0.62264	1.838000	0.53458	0.391000	0.25812	GAC		0.488	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			6	13	0	0	0	0.004482	0	6	13				
TRIM50	135892	broad.mit.edu	37	7	72734212	72734212	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:72734212C>T	ENST00000333149.2	-	3	629	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000453152.1_Silent_p.L143L	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	143						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L143L(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTCCTGCTTCAGCTCAGAGA	0.597																																							uc010lbd.1		NA																	4	Substitution - coding silent(4)		lung(4)	skin(1)	1						c.(427-429)CTG>CTA		tripartite motif protein 50A							311.0	259.0	276.0					7																	72734212		2203	4300	6503	SO:0001819	synonymous_variant	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72734212C>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.429G>A	7.37:g.72734212C>T						FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.L143L|TRIM50_uc003txz.1_Silent_p.L143L	p.L143L	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			3	554	-			143			Potential.		Q86XT3	Silent	SNP	ENST00000333149.2	37	c.429G>A	CCDS34654.1																																																																																				0.597	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		28	121	0	0	0	0.007291	0	28	121				
DTX2	113878	broad.mit.edu	37	7	76111922	76111922	+	Silent	SNP	T	T	C	rs141436878	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:76111922T>C	ENST00000324432.5	+	5	876	c.366T>C	c.(364-366)acT>acC	p.T122T	DTX2_ENST00000446820.2_Silent_p.T122T|DTX2_ENST00000446600.1_Silent_p.T31T|DTX2_ENST00000413936.2_Silent_p.T122T|DTX2_ENST00000307569.8_Silent_p.T122T|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Silent_p.T122T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T122T(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCTCCTGGACTGCCTATGAAG	0.632													.|||	81	0.0161741	0.0	0.0	5008	,	,		15290	0.006		0.0	False		,,,				2504	0.0767						uc003uff.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(364-366)ACT>ACC		deltex 2 isoform a		C	,,,	0,4406		0,0,2203	55.0	52.0	53.0		366,366,366,366	-10.8	0.0	7	dbSNP_134	53	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTX2	NM_001102594.1,NM_001102595.1,NM_001102596.1,NM_020892.2	,,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,,	122/623,122/623,122/576,122/623	76111922	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76111922T>C		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.366T>C	7.37:g.76111922T>C						DTX2_uc011kgk.1_Silent_p.T31T|DTX2_uc003ufg.3_Silent_p.T122T|DTX2_uc003ufh.3_Silent_p.T122T|DTX2_uc003ufj.3_Silent_p.T122T	p.T122T	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			5	922	+			122			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.366T>C	CCDS5587.1																																																																																				0.632	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			35	50	0	0	0	0.013726	0	35	50				
SEMA3C	10512	broad.mit.edu	37	7	80546044	80546044	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:80546044A>G	ENST00000265361.3	-	2	615	c.54T>C	c.(52-54)tgT>tgC	p.C18C	SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000419255.2_Silent_p.C18C|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000544525.1_Silent_p.C36C	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	18					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.C18C(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCCTTTCACACAGATAGAAC	0.348																																							uc003uhj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(52-54)TGT>TGC		semaphorin 3C precursor							114.0	107.0	109.0					7																	80546044		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80546044A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.54T>C	7.37:g.80546044A>G						SEMA3C_uc011kgw.1_Silent_p.C36C|SEMA3C_uc011kgx.1_5'UTR	p.C18C	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			2	616	-			18					B4DRL8	Silent	SNP	ENST00000265361.3	37	c.54T>C	CCDS5596.1																																																																																				0.348	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		14	26	0	0	0	0.003163	0	14	26				
SEMA3D	223117	broad.mit.edu	37	7	84628913	84628913	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:84628913C>G	ENST00000284136.6	-	17	2220	c.2177G>C	c.(2176-2178)aGc>aCc	p.S726T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	726					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.S726T(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGGTCGAGGCTGAAGTTTGG	0.512																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(2176-2178)AGC>ACC		semaphorin 3D precursor							173.0	146.0	155.0					7																	84628913		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628913C>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2177G>C	7.37:g.84628913C>G	ENSP00000284136:p.Ser726Thr					SEMA3D_uc010led.2_Missense_Mutation_p.S726T|SEMA3D_uc003uib.2_Missense_Mutation_p.S365T	p.S726T	NM_152754	NP_689967	O95025	SEM3D_HUMAN			17	2217	-			726					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2177G>C	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617334	0.14129	.	.	ENSG00000153993	ENST00000284136	T	0.30981	1.51	5.73	5.73	0.89815	.	0.091989	0.85682	D	0.000000	T	0.20659	0.0497	L	0.28608	0.87	0.80722	D	1	P	0.34864	0.473	B	0.24848	0.056	T	0.07214	-1.0784	10	0.06099	T	0.92	.	19.9002	0.96983	0.0:1.0:0.0:0.0	.	726	O95025	SEM3D_HUMAN	T	726	ENSP00000284136:S726T	ENSP00000284136:S726T	S	-	2	0	SEMA3D	84466849	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.420000	0.59841	2.709000	0.92574	0.655000	0.94253	AGC		0.512	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		7	44	0	0	0	0.001984	0	7	44				
TRRAP	8295	broad.mit.edu	37	7	98509822	98509822	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:98509822G>A	ENST00000359863.4	+	18	2394	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E728K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E729K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	729					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)	p.E729K(4)		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)			AGCTGAAAATGAACAAATGCT	0.483																																							uc003upp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(2185-2187)GAA>AAA		transformation/transcription domain-associated							149.0	131.0	137.0					7																	98509822		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.chr7:98509822G>A	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.2185G>A	7.37:g.98509822G>A	ENSP00000352925:p.Glu729Lys					TRRAP_uc011kis.1_Missense_Mutation_p.E729K|TRRAP_uc003upr.2_Missense_Mutation_p.E421K	p.E729K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		18	2394	+	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)		729					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2185G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.477954|5.477954	0.96291|0.96291	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.63744|.	2.71;-0.06|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Armadillo-like helical (1);Armadillo-type fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86908|0.86908	0.6046|0.6046	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	D|D	0.89429|0.89429	0.3715|0.3715	10|5	0.87932|.	D|.	0|.	.|.	19.7617|19.7617	0.96321|0.96321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	729;443;729|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	K|I	729;729;727|443	ENSP00000352925:E729K;ENSP00000347733:E729K|.	ENSP00000347733:E729K|.	E|M	+|+	1|3	0|0	TRRAP|TRRAP	98347758|98347758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.671000|2.671000	0.90904|0.90904	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.483	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		23	37	0	0	0	0.00333	0	23	37				
CYP3A7	1551	broad.mit.edu	37	7	99308411	99308411	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99308411G>T	ENST00000336374.2	-	10	972	c.970C>A	c.(970-972)Cac>Aac	p.H324N	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	324					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.H324N(2)|p.H324Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ACATCAGGGTGAGTGGCCAGT	0.448																																							uc003uru.2		NA																	3	Substitution - Missense(3)		lung(2)|breast(1)	ovary(1)	1						c.(970-972)CAC>AAC		cytochrome P450, family 3, subfamily A,							91.0	78.0	83.0					7																	99308411		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99308411G>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.970C>A	7.37:g.99308411G>T	ENSP00000337450:p.His324Asn					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.H324N	NM_000765	NP_000756	P24462	CP3A7_HUMAN			10	1075	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		324					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.970C>A	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	g	0.204	-1.042063	0.01997	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.67865	-0.29	3.99	-0.889	0.10580	.	0.092127	0.64402	D	0.000001	T	0.41465	0.1160	N	0.10782	0.045	0.24844	N	0.992447	B	0.15930	0.015	B	0.31016	0.123	T	0.36456	-0.9747	10	0.02654	T	1	.	11.9749	0.53085	0.0:0.0:0.4353:0.5647	.	324	P24462	CP3A7_HUMAN	N	324	ENSP00000337450:H324N	ENSP00000292414:H324N	H	-	1	0	CYP3A7	99146347	0.998000	0.40836	0.444000	0.26895	0.231000	0.25187	2.655000	0.46707	-0.071000	0.12886	-0.493000	0.04662	CAC		0.448	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			16	15	1	0	1.3612e-06	0.003163	1.55873e-06	16	15				
AZGP1P1	646282	broad.mit.edu	37	7	99580996	99580996	+	RNA	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99580996C>A	ENST00000425474.1	+	0	317					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		AGACCCTGAACAACATCATGG	0.562																																							uc003usi.2		NA																	0					NA						c.(304-306)AAC>AAA		RecName: Full=Putative zinc-alpha-2-glycoprotein-like 2; Flags: Precursor;																																						0							g.chr7:99580996C>A	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99580996C>A							p.N102K							2	317	+									Missense_Mutation	SNP	ENST00000425474.1	37	c.306C>A																																																																																					0.562	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			12	15	1	0	1.61879e-10	0.013537	1.99532e-10	12	15				
ZSCAN21	7589	broad.mit.edu	37	7	99662084	99662084	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:99662084G>A	ENST00000292450.4	+	4	1430	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G388E|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.G388E	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	422					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G422G(2)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGAGTGTGGGAAAGCCTTCA	0.512																																							uc003uso.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1264-1266)GGG>GGA		zinc finger protein 38							70.0	65.0	67.0					7																	99662084		2203	4300	6503	SO:0001819	synonymous_variant	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99662084G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1266G>A	7.37:g.99662084G>A						ZSCAN21_uc003usn.1_Missense_Mutation_p.G387E|ZNF3_uc003usp.2_3'UTR	p.G422G	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1410	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		422			C2H2-type 6.		A4D2A6|D6W5T9|Q9H0B5	Silent	SNP	ENST00000292450.4	37	c.1266G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289140	0.59976	.	.	ENSG00000166529	ENST00000543588;ENST00000456748	T;T	0.02216	4.39;4.39	4.52	1.56	0.23342	.	0.000000	0.42821	D	0.000655	T	0.01835	0.0058	.	.	.	0.80722	D	1	P	0.35628	0.513	B	0.29524	0.103	T	0.59467	-0.7449	9	0.87932	D	0	.	4.0732	0.09892	0.0921:0.156:0.5843:0.1675	.	388	G3V1M0	.	E	388	ENSP00000441212:G388E;ENSP00000390960:G388E	ENSP00000390960:G388E	G	+	2	0	ZSCAN21	99500020	0.973000	0.33851	1.000000	0.80357	0.992000	0.81027	0.027000	0.13621	0.209000	0.20645	0.655000	0.94253	GGA		0.512	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		18	23	0	0	0	0.006122	0	18	23				
CUX1	1523	broad.mit.edu	37	7	101671405	101671405	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:101671405C>T	ENST00000292535.7	+	3	207	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	CUX1_ENST00000556210.1_Silent_p.L57L|CUX1_ENST00000360264.3_Silent_p.L68L|CUX1_ENST00000393824.3_Silent_p.L31L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Silent_p.L68L|CUX1_ENST00000546411.2_Silent_p.L57L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000549414.2_Silent_p.L57L|CUX1_ENST00000437600.4_Silent_p.L68L|CUX1_ENST00000292538.4_Silent_p.L68L|CUX1_ENST00000550008.2_Silent_p.L57L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	57					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.L57L(2)|p.L68L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGCCGCTGCTGAAGAGTTT	0.473																																							uc003uyx.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(169-171)CTG>TTG		cut-like homeobox 1 isoform a							83.0	78.0	80.0					7																	101671405		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101671405C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.169C>T	7.37:g.101671405C>T						CUX1_uc003uys.3_Silent_p.L68L|CUX1_uc003uyt.2_Silent_p.L68L|CUX1_uc011kkn.1_Silent_p.L31L|CUX1_uc003uyw.2_Silent_p.L68L|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Silent_p.L68L	p.L57L	NM_181552	NP_853530	P39880	CUX1_HUMAN			3	207	+			57			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.169C>T	CCDS5721.1																																																																																				0.473	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		10	30	0	0	0	0.013537	0	10	30				
NRCAM	4897	broad.mit.edu	37	7	107816974	107816974	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:107816974A>T	ENST00000425651.2	-	24	3051	c.3052T>A	c.(3052-3054)Tta>Ata	p.L1018I	NRCAM_ENST00000379024.4_Missense_Mutation_p.L999I|NRCAM_ENST00000351718.4_Missense_Mutation_p.L1002I|NRCAM_ENST00000379022.4_Missense_Mutation_p.L1018I|NRCAM_ENST00000379028.3_Missense_Mutation_p.L1018I|NRCAM_ENST00000413765.2_Missense_Mutation_p.L999I	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1018	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.L1002I(2)|p.L1018I(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTGAAATTTAAATTTTTTAAA	0.363																																							uc003vfb.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|breast(2)	5						c.(3052-3054)TTA>ATA		neuronal cell adhesion molecule isoform A							108.0	109.0	108.0					7																	107816974		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107816974A>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3052T>A	7.37:g.107816974A>T	ENSP00000401244:p.Leu1018Ile					NRCAM_uc003vfc.2_Missense_Mutation_p.L1002I|NRCAM_uc011kmk.1_Missense_Mutation_p.L1013I|NRCAM_uc003vfd.2_Missense_Mutation_p.L994I|NRCAM_uc003vfe.2_Missense_Mutation_p.L994I|NRCAM_uc011kmj.1_5'UTR	p.L1018I	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			27	3523	-			1018			Fibronectin type-III 4.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.3052T>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428364	0.83667	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.89	5.89	0.94794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94794	0.8319	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;0.973;0.967;0.999	D;D;D;P;D	0.91635	0.977;0.999;0.933;0.889;0.972	D	0.96012	0.9002	10	0.66056	D	0.02	.	16.3122	0.82883	1.0:0.0:0.0:0.0	.	1018;999;999;1002;1018	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	I	1018;1018;999;1018;1002;999;1018;1018	ENSP00000368314:L1018I;ENSP00000407858:L999I;ENSP00000325269:L1002I;ENSP00000368310:L999I;ENSP00000401244:L1018I;ENSP00000368308:L1018I	ENSP00000325269:L1002I	L	-	1	2	NRCAM	107604210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.371000	0.79600	2.254000	0.74563	0.528000	0.53228	TTA		0.363	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		24	18	0	0	0	0.00278	0	24	18				
C7orf66	154907	broad.mit.edu	37	7	108524185	108524185	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:108524185T>C	ENST00000379007.2	-	2	281	c.227A>G	c.(226-228)cAg>cGg	p.Q76R		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	76						integral component of membrane (GO:0016021)		p.Q76R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCTGTATCTCTGATCCATCAT	0.403																																							uc003vfo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(226-228)CAG>CGG		hypothetical protein LOC154907							188.0	161.0	170.0					7																	108524185		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524185T>C	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.227A>G	7.37:g.108524185T>C	ENSP00000368292:p.Gln76Arg						p.Q76R	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			2	275	-			76						Missense_Mutation	SNP	ENST00000379007.2	37	c.227A>G	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	T	4.367	0.067600	0.08436	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.5	-0.335	0.12662	.	.	.	.	.	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	P	0.42908	0.793	B	0.40375	0.327	T	0.12708	-1.0537	7	.	.	.	.	3.3086	0.07009	0.0:0.2127:0.2135:0.5738	.	76	A4D0T2	CG066_HUMAN	R	76	.	.	Q	-	2	0	C7orf66	108311421	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.036000	0.12185	-0.061000	0.13110	0.460000	0.39030	CAG		0.403	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		3	39	0	0	0	0.004672	0	3	39				
DOCK4	9732	broad.mit.edu	37	7	111379521	111379521	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:111379521T>A	ENST00000437633.1	-	47	5282	c.5026A>T	c.(5026-5028)Acc>Tcc	p.T1676S	DOCK4_ENST00000494651.2_Missense_Mutation_p.T559S|DOCK4_ENST00000428084.1_Missense_Mutation_p.T1685S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1676	Ser-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.T1676S(1)|p.T1673S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAGCTTGAGGTAGATGGACTT	0.468																																							uc003vfx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(5026-5028)ACC>TCC		dedicator of cytokinesis 4							47.0	51.0	49.0					7																	111379521		1980	4162	6142	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111379521T>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5026A>T	7.37:g.111379521T>A	ENSP00000404179:p.Thr1676Ser					DOCK4_uc011kml.1_Missense_Mutation_p.T557S|DOCK4_uc011kmm.1_Missense_Mutation_p.T583S|DOCK4_uc003vfw.2_Missense_Mutation_p.T1126S|DOCK4_uc003vfy.2_Missense_Mutation_p.T1721S|DOCK4_uc003vfv.2_5'UTR	p.T1676S	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			47	5295	-		Acute lymphoblastic leukemia(1;0.0441)	1676			Ser-rich.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.5026A>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.155295	0.38021	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	T;T;T	0.04654	4.29;3.58;4.29	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	N	0.17082	0.46	0.54753	D	0.999981	B;B;B;B;B	0.33022	0.15;0.394;0.324;0.274;0.394	B;B;B;B;B	0.32465	0.026;0.057;0.094;0.069;0.146	T	0.57458	-0.7808	10	0.17369	T	0.5	.	15.8177	0.78615	0.0:0.0:0.0:1.0	.	583;559;1721;1676;1685	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.;.;.;DOCK4_HUMAN;.	S	1664;1685;559;1676;1673	ENSP00000410746:T1685S;ENSP00000440944:T559S;ENSP00000404179:T1676S	ENSP00000345432:T1673S	T	-	1	0	DOCK4	111166757	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.977000	0.70492	2.323000	0.78572	0.533000	0.62120	ACC		0.468	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		2	0	0	0	0	0.004672	0	2	0				
PTPRZ1	5803	broad.mit.edu	37	7	121638051	121638051	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:121638051G>T	ENST00000393386.2	+	10	1642	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D411Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	411	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D411Y(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATGCCTACTGATAATCCTGG	0.348																																							uc003vjy.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1231-1233)GAT>TAT		protein tyrosine phosphatase, receptor-type,							100.0	93.0	95.0					7																	121638051		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121638051G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1231G>T	7.37:g.121638051G>T	ENSP00000377047:p.Asp411Tyr					PTPRZ1_uc003vjz.2_Missense_Mutation_p.D411Y	p.D411Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			10	1626	+			411			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1231G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038572	0.35989	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.54866	0.55;0.57	5.51	-2.52	0.06346	Immunoglobulin-like fold (1);	0.552920	0.18083	N	0.152230	T	0.51261	0.1664	L	0.59436	1.845	0.24276	N	0.995227	P;P	0.49447	0.828;0.924	B;P	0.48030	0.44;0.564	T	0.54510	-0.8283	10	0.87932	D	0	.	11.6027	0.51012	0.4399:0.0:0.5601:0.0	.	411;411	C9JFM0;P23471	.;PTPRZ_HUMAN	Y	411	ENSP00000377047:D411Y;ENSP00000410000:D411Y	ENSP00000377047:D411Y	D	+	1	0	PTPRZ1	121425287	0.949000	0.32298	0.000000	0.03702	0.316000	0.28119	1.601000	0.36773	-0.958000	0.03622	0.585000	0.79938	GAT		0.348	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	10	1	0	0.000602214	0.000602	0.000636401	5	10				
POT1	25913	broad.mit.edu	37	7	124499043	124499043	+	Missense_Mutation	SNP	C	C	G	rs202187871		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:124499043C>G	ENST00000357628.3	-	9	1268	c.670G>C	c.(670-672)Gat>Cat	p.D224H	POT1_ENST00000393329.1_Missense_Mutation_p.D93H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	224			D -> N (in CMM10). {ECO:0000269|PubMed:24686846}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.D224H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACATGGTTATCGTAGACTAAA	0.318																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(670-672)GAT>CAT		protection of telomeres 1 isoform 1							102.0	95.0	97.0					7																	124499043		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124499043C>G	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.670G>C	7.37:g.124499043C>G	ENSP00000350249:p.Asp224His					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.D93H|POT1_uc003vln.2_RNA	p.D224H	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			9	1271	-			224					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.670G>C	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748275	0.89663	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.76316	0.24;-1.01	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89145	0.3519	10	0.87932	D	0	-20.3592	19.4402	0.94817	0.0:1.0:0.0:0.0	.	224	Q9NUX5	POTE1_HUMAN	H	224;93;224;224;224;223	ENSP00000350249:D224H;ENSP00000377002:D93H	ENSP00000265391:D223H	D	-	1	0	POT1	124286279	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	5.957000	0.70323	2.838000	0.97847	0.591000	0.81541	GAT		0.318	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			3	16	0	0	0	0.006214	0	3	16				
NRF1	4899	broad.mit.edu	37	7	129357178	129357178	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:129357178G>T	ENST00000393232.1	+	9	1302	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D	NRF1_ENST00000223190.4_Missense_Mutation_p.E395D|NRF1_ENST00000353868.4_Missense_Mutation_p.E329D|NRF1_ENST00000311967.2_Missense_Mutation_p.E395D|NRF1_ENST00000539636.1_Missense_Mutation_p.E234D|NRF1_ENST00000393231.3_Missense_Mutation_p.E395D|NRF1_ENST00000393230.2_Missense_Mutation_p.E395D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	395	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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.E395D(2)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CTTCTCAGGAGATGCAGCAGG	0.572																																							uc003voz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1183-1185)GAG>GAT		nuclear respiratory factor 1							76.0	64.0	68.0					7																	129357178		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357178G>T	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1185G>T	7.37:g.129357178G>T	ENSP00000376924:p.Glu395Asp					NRF1_uc003vpa.2_Missense_Mutation_p.E395D|NRF1_uc011kpa.1_Missense_Mutation_p.E234D|NRF1_uc003vpb.2_Missense_Mutation_p.E395D	p.E395D	NM_005011	NP_005002	Q16656	NRF1_HUMAN			9	1302	+			395			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1185G>T	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985284	0.74474	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	4.65	0.58169	.	0.089275	0.85682	D	0.000000	T	0.42944	0.1225	L	0.38175	1.15	0.48975	D	0.999734	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.25916	-1.0118	9	0.19147	T	0.46	-1.3566	8.5064	0.33190	0.0769:0.0:0.7713:0.1518	.	395;395	Q96AN2;Q16656	.;NRF1_HUMAN	D	395;329;234;395;395;395;395	.	ENSP00000223190:E395D	E	+	3	2	NRF1	129144414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.088000	0.41663	1.357000	0.45904	0.650000	0.86243	GAG		0.572	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		16	26	1	0	1.3612e-06	0.003163	1.55873e-06	16	26				
PRSS1	5644	broad.mit.edu	37	7	142460350	142460350	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:142460350T>C	ENST00000311737.7	+	4	529	c.523T>C	c.(523-525)Tac>Cac	p.Y175H	PRSS1_ENST00000486171.1_Missense_Mutation_p.Y189H	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	175	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.Y175H(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TGAAGCCTCCTACCCTGGAAA	0.532																																							uc003wak.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|central_nervous_system(1)	2						c.(523-525)TAC>CAC		protease, serine, 1 preproprotein							274.0	267.0	270.0					7																	142460350		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460350T>C	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.523T>C	7.37:g.142460350T>C	ENSP00000308720:p.Tyr175His					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.Y115H	p.Y175H	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	540	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	175			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.523T>C	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405783	0.42715	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.94232	-3.38;-3.38;-1.76	3.32	3.32	0.38043	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96024	0.8705	M	0.81179	2.53	0.46901	D	0.999242	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95672	0.8724	10	0.56958	D	0.05	.	11.1867	0.48660	0.0:0.0:0.0:1.0	.	189;175	E7EQ64;P07477	.;TRY1_HUMAN	H	189;175;165;125	ENSP00000417854:Y189H;ENSP00000308720:Y175H;ENSP00000419912:Y125H	ENSP00000308720:Y175H	Y	+	1	0	PRSS1	142139924	1.000000	0.71417	0.827000	0.32855	0.034000	0.12701	6.232000	0.72313	1.462000	0.47948	0.332000	0.21555	TAC		0.532	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			68	159	0	0	0	0.01441	0	68	159				
EZH2	2146	broad.mit.edu	37	7	148513776	148513776	+	Splice_Site	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:148513776C>T	ENST00000460911.1	-	12	1578	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	EZH2_ENST00000483967.1_Splice_Site_p.R488Q|EZH2_ENST00000476773.1_Splice_Site_p.R488Q|EZH2_ENST00000320356.2_Splice_Site_p.R502Q|EZH2_ENST00000541220.1_Splice_Site_p.R488Q|EZH2_ENST00000350995.2_Splice_Site_p.R458Q|EZH2_ENST00000478654.1_Splice_Site_p.R488Q			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	497	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R502Q(2)|p.R458Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACAGACTCACCGGTGTTTCCT	0.453			Mis		DLBCL																																		uc003wfd.1		NA		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		4	Substitution - Missense(4)		lung(4)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1489-1491)CGG>CAG		enhancer of zeste 2 isoform a							102.0	87.0	92.0					7																	148513776		2203	4300	6503	SO:0001630	splice_region_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148513776C>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1490+1G>A	7.37:g.148513776C>T						EZH2_uc011kug.1_Missense_Mutation_p.R488Q|EZH2_uc003wfb.1_Missense_Mutation_p.R502Q|EZH2_uc003wfc.1_Missense_Mutation_p.R458Q|EZH2_uc011kuh.1_Missense_Mutation_p.R488Q|EZH2_uc011kui.1_3'UTR	p.R497Q	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		12	1656	-	Melanoma(164;0.15)		497					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1490G>A	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.188548	0.78789	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.88842	2.985	0.80722	D	1	D;B;B;B;B	0.89917	1.0;0.142;0.008;0.178;0.009	D;B;B;B;B	0.81914	0.995;0.173;0.018;0.115;0.006	D	0.92314	0.5860	9	.	.	.	.	19.1601	0.93527	0.0:1.0:0.0:0.0	.	488;488;497;458;502	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	Q	488;502;497;458;488;488;488	ENSP00000417062:R488Q;ENSP00000320147:R502Q;ENSP00000419711:R497Q;ENSP00000223193:R458Q;ENSP00000443219:R488Q;ENSP00000419050:R488Q;ENSP00000419856:R488Q	.	R	-	2	0	EZH2	148144709	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.387000	0.79785	2.520000	0.84964	0.585000	0.79938	CGG		0.453	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	Missense_Mutation	20	22	0	0	0	0.010504	0	20	22				
ZNF425	155054	broad.mit.edu	37	7	148802277	148802277	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:148802277C>T	ENST00000378061.2	-	4	818	c.686G>A	c.(685-687)gGg>gAg	p.G229E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	229					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G229E(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCGGACTTCCCTCTGGACGA	0.532																																							uc003wfj.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)	3						c.(685-687)GGG>GAG		zinc finger protein 425							83.0	86.0	85.0					7																	148802277		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802277C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.686G>A	7.37:g.148802277C>T	ENSP00000367300:p.Gly229Glu						p.G229E	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	759	-	Melanoma(164;0.15)		229					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.686G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080181	0.36662	.	.	ENSG00000204947	ENST00000378061	T	0.06608	3.28	2.62	2.62	0.31277	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.47827	0.558	T	0.43343	-0.9397	9	0.27785	T	0.31	.	7.5156	0.27598	0.0:0.7308:0.2692:0.0	.	229	Q6IV72	ZN425_HUMAN	E	229	ENSP00000367300:G229E	ENSP00000367300:G229E	G	-	2	0	ZNF425	148433210	0.000000	0.05858	0.097000	0.21041	0.588000	0.36517	-0.129000	0.10515	1.480000	0.48289	0.655000	0.94253	GGG		0.532	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		34	30	0	0	0	0.003271	0	34	30				
ABCB8	11194	broad.mit.edu	37	7	150739143	150739143	+	Silent	SNP	G	G	T	rs201093704		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:150739143G>T	ENST00000297504.6	+	15	1830	c.1764G>T	c.(1762-1764)gcG>gcT	p.A588A	ABCB8_ENST00000498578.1_Silent_p.A571A|ABCB8_ENST00000358849.4_Silent_p.A571A|ABCB8_ENST00000542328.1_Silent_p.A483A|ABCB8_ENST00000356058.4_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	588	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A571A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CCCGGGAAGCGAATGCTCACG	0.607																																							uc003wil.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)	3						c.(1762-1764)GCG>GCT		ATP-binding cassette, sub-family B, member 8							70.0	70.0	70.0					7																	150739143		2203	4300	6503	SO:0001819	synonymous_variant	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150739143G>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1764G>T	7.37:g.150739143G>T						ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.A571A|ABCB8_uc011kvd.1_Silent_p.A483A|ABCB8_uc003wim.3_Silent_p.A366A|ABCB8_uc003wik.3_Silent_p.A571A	p.A588A	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	1857	+			588			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	ENST00000297504.6	37	c.1764G>T																																																																																					0.607	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		19	65	1	0	5.35267e-07	0.007413	6.18796e-07	19	65				
FASTK	10922	broad.mit.edu	37	7	150774063	150774063	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:150774063C>T	ENST00000297532.6	-	9	1556	c.1479G>A	c.(1477-1479)gtG>gtA	p.V493V	FASTK_ENST00000482571.1_Silent_p.V466V|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000489884.1_5'UTR|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000353841.2_Silent_p.V352V	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	493	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)	p.V493V(1)		lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGCCCAGCAGCACCCGGCCGT	0.716																																							uc003wix.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(2)	4						c.(1477-1479)GTG>GTA		Fas-activated serine/threonine kinase isoform 1							21.0	25.0	24.0					7																	150774063		2201	4296	6497	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150774063C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1479G>A	7.37:g.150774063C>T						uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Silent_p.V254V|FASTK_uc003wiy.1_Silent_p.V352V|FASTK_uc003wiz.1_Silent_p.V466V|FASTK_uc003wja.1_3'UTR	p.V493V	NM_006712	NP_006703	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	9	1577	-			493			RAP.		A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.1479G>A	CCDS5918.1																																																																																				0.716	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		14	39	0	0	0	0.001855	0	14	39				
KMT2C	58508	broad.mit.edu	37	7	151945082	151945082	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:151945082G>C	ENST00000262189.6	-	14	2655	c.2437C>G	c.(2437-2439)Cca>Gca	p.P813A	KMT2C_ENST00000355193.2_Missense_Mutation_p.P813A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	813					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)	p.P813A(2)									TAAGTTGTTGGCATGATGTTT	0.448																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2437-2439)CCA>GCA		myeloid/lymphoid or mixed-lineage leukemia 3							423.0	374.0	390.0					7																	151945082		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.chr7:151945082G>C	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.2437C>G	7.37:g.151945082G>C	ENSP00000262189:p.Pro813Ala						p.P813A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2656	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	813					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2437C>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.39|19.39	3.819132|3.819132	0.71028|0.71028	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.84298	.|-1.82;-1.83	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.46145	.|D	.|0.000308	D|D	0.88894|0.88894	0.6561|0.6561	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.86816|0.86816	0.2001|0.2001	5|10	.|0.31617	.|T	.|0.26	.|.	19.7692|19.7692	0.96356|0.96356	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|813	.|Q8NEZ4	.|MLL3_HUMAN	G|A	8|813	.|ENSP00000262189:P813A;ENSP00000347325:P813A	.|ENSP00000262189:P813A	A|P	-|-	2|1	0|0	MLL3|MLL3	151576015|151576015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.319000|5.319000	0.65835|0.65835	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	124	0	0	0	0.00308	0	8	124				
TUSC3	7991	broad.mit.edu	37	8	15517098	15517098	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:15517098G>C	ENST00000503731.1	+	4	657	c.509G>C	c.(508-510)aGa>aCa	p.R170T	TUSC3_ENST00000509380.1_Missense_Mutation_p.R170T|TUSC3_ENST00000506802.1_Missense_Mutation_p.R170T|TUSC3_ENST00000382020.4_Missense_Mutation_p.R170T|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	170	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R170T(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GACCTCCAAAGAATTGGATTT	0.393																																							uc003wwt.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|central_nervous_system(1)	3						c.(508-510)AGA>ACA		tumor suppressor candidate 3 isoform a							116.0	112.0	114.0					8																	15517098		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15517098G>C	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.509G>C	8.37:g.15517098G>C	ENSP00000424544:p.Arg170Thr					TUSC3_uc003wwr.2_Missense_Mutation_p.R170T|TUSC3_uc003wws.2_Missense_Mutation_p.R170T|TUSC3_uc003wwu.2_Missense_Mutation_p.R170T|TUSC3_uc003wwv.2_Missense_Mutation_p.R170T|TUSC3_uc003www.2_Missense_Mutation_p.R170T|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R170T	p.R170T	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	4	719	+			170					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.509G>C	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069002	0.76301	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.52	5.52	0.82312	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.68952	2.095	0.51233	D	0.999915	P;P;D;D;P;P	0.59357	0.934;0.949;0.981;0.985;0.891;0.826	D;P;D;P;P;B	0.69142	0.929;0.719;0.962;0.836;0.626;0.446	T	0.45145	-0.9281	10	0.13853	T	0.58	-18.8928	18.809	0.92050	0.0:0.0:1.0:0.0	.	170;170;170;170;170;170	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	T	170	ENSP00000371450:R170T;ENSP00000425777:R170T;ENSP00000423426:R170T;ENSP00000424544:R170T	ENSP00000221167:R170T	R	+	2	0	TUSC3	15561469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.764000	0.94973	0.650000	0.86243	AGA		0.393	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		5	16	0	0	0	0.001984	0	5	16				
ADAM7	8756	broad.mit.edu	37	8	24359024	24359024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:24359024G>T	ENST00000175238.6	+	20	2226	c.2143G>T	c.(2143-2145)Gga>Tga	p.G715*	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.G487*|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.G715*|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	715						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G715*(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGAGAACAAAGGATACTTTGG	0.373																																							uc003xeb.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(3)|ovary(1)|kidney(1)	5						c.(2143-2145)GGA>TGA		a disintegrin and metalloproteinase domain 7							93.0	94.0	94.0					8																	24359024		2203	4300	6503	SO:0001587	stop_gained	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24359024G>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.2143G>T	8.37:g.24359024G>T	ENSP00000175238:p.Gly715*					ADAM7_uc003xec.2_Nonsense_Mutation_p.G487*	p.G715*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	20	2256	+		Prostate(55;0.0181)	715			Cytoplasmic (Potential).		A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	ENST00000175238.6	37	c.2143G>T	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627225	0.97718	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	4.37	4.37	0.52481	.	0.283649	0.25055	N	0.033482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.6066	0.56527	0.0:0.0:1.0:0.0	.	.	.	.	X	715;715;487;530	.	ENSP00000175238:G715X	G	+	1	0	ADAM7	24414914	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.046000	0.57376	2.438000	0.82558	0.563000	0.77884	GGA		0.373	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		11	21	1	0	0.00136819	0.013537	0.00143231	11	21				
TEX15	56154	broad.mit.edu	37	8	30704584	30704584	+	Silent	SNP	C	C	T	rs373976433		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:30704584C>T	ENST00000256246.2	-	1	2024	c.1950G>A	c.(1948-1950)acG>acA	p.T650T	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	650					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.T650T(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTTTTATCCGTATCAATTT	0.299													C|||	1	0.000199681	0.0	0.0	5008	,	,		20531	0.001		0.0	False		,,,				2504	0.0						uc003xil.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1948-1950)ACG>ACA		testis expressed 15		C		1,4405	2.1+/-5.4	0,1,2202	43.0	43.0	43.0		1950	-8.4	0.0	8		43	0,8592		0,0,4296	no	coding-synonymous	TEX15	NM_031271.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		650/2790	30704584	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	56154							g.chr8:30704584C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1950G>A	8.37:g.30704584C>T							p.T650T	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1950	-			650						Silent	SNP	ENST00000256246.2	37	c.1950G>A	CCDS6080.1																																																																																				0.299	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			9	19	0	0	0	0.006214	0	9	19				
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:35541202C>A	ENST00000404895.2	+	5	1036	c.708C>A	c.(706-708)atC>atA	p.I236I	UNC5D_ENST00000453357.2_Silent_p.I231I|UNC5D_ENST00000420357.1_Silent_p.I236I|UNC5D_ENST00000416672.1_Silent_p.I236I|UNC5D_ENST00000287272.2_Silent_p.I236I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	236	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.I231I(3)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCAACATCGTGGCTAAGA	0.532																																							uc003xjr.1		NA																	3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(706-708)ATC>ATA		unc-5 homolog D precursor							71.0	61.0	64.0					8																	35541202		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541202C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.708C>A	8.37:g.35541202C>A						UNC5D_uc003xjs.1_Silent_p.I231I|UNC5D_uc003xjt.1_Silent_p.I5I	p.I236I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	1036	+			236			Extracellular (Potential).|Ig-like C2-type.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.708C>A	CCDS6093.2																																																																																				0.532	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			9	13	1	0	2.17888e-05	0.006214	2.40588e-05	9	13				
KCNU1	157855	broad.mit.edu	37	8	36675196	36675196	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:36675196G>T	ENST00000399881.3	+	10	1061	c.1024G>T	c.(1024-1026)Gtg>Ttg	p.V342L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	342	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.V342L(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACATCACTGTGGACAGTGT	0.458																																							uc010lvw.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1024-1026)GTG>TTG		potassium channel, subfamily U, member 1							162.0	150.0	154.0					8																	36675196		1964	4149	6113	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36675196G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1024G>T	8.37:g.36675196G>T	ENSP00000382770:p.Val342Leu					KCNU1_uc003xjw.2_RNA	p.V342L	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	10	1111	+			342			RCK N-terminal.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.1024G>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	3.768	-0.048266	0.07407	.	.	ENSG00000215262	ENST00000399881	T	0.30448	1.53	5.31	4.43	0.53597	.	0.577501	0.12581	U	0.456381	T	0.14184	0.0343	N	0.17082	0.46	0.80722	D	1	P	0.43750	0.816	B	0.35813	0.211	T	0.06807	-1.0806	10	0.02654	T	1	-11.9862	9.4286	0.38595	0.0:0.1558:0.6829:0.1613	.	342	A8MYU2	KCNU1_HUMAN	L	342	ENSP00000382770:V342L	ENSP00000382770:V342L	V	+	1	0	KCNU1	36794354	0.998000	0.40836	0.046000	0.18839	0.906000	0.53458	3.497000	0.53295	1.335000	0.45486	0.655000	0.94253	GTG		0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		20	27	1	0	7.41877e-09	0.012319	8.93287e-09	20	27				
ADRB3	155	broad.mit.edu	37	8	37821747	37821747	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:37821747C>T	ENST00000345060.3	-	2	1711	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	406					activation of adenylate cyclase activity (GO:0007190)|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)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)	p.G406R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	TAAGAAACTCCCCAAGAAGCC	0.507																																							uc003xkr.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1216-1218)GGA>AGA		adrenergic, beta-3-, receptor	Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)						67.0	68.0	68.0					8																	37821747		2203	4300	6503	SO:0001583	missense	155				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity	g.chr8:37821747C>T	AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.1216G>A	8.37:g.37821747C>T	ENSP00000343782:p.Gly406Arg						p.G406R	NM_000025	NP_000016	P13945	ADRB3_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		2	1413	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	406			Cytoplasmic (By similarity).		Q4JFT4	Missense_Mutation	SNP	ENST00000345060.3	37	c.1216G>A	CCDS6099.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414294	0.62511	.	.	ENSG00000188778	ENST00000345060	T	0.56444	0.46	4.7	3.81	0.43845	.	0.727450	0.12093	N	0.500234	T	0.38878	0.1057	N	0.08118	0	0.20074	N	0.999934	D	0.59767	0.986	P	0.48454	0.578	T	0.16808	-1.0390	10	0.87932	D	0	.	9.0087	0.36129	0.0:0.8971:0.0:0.1029	.	406	P13945	ADRB3_HUMAN	R	406	ENSP00000343782:G406R	ENSP00000343782:G406R	G	-	1	0	ADRB3	37940904	0.052000	0.20516	0.407000	0.26434	0.978000	0.69477	1.352000	0.34033	1.185000	0.42971	0.591000	0.81541	GGA		0.507	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025		6	16	0	0	0	0.001984	0	6	16				
KAT6A	7994	broad.mit.edu	37	8	41834584	41834584	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:41834584C>T	ENST00000396930.3	-	8	1848	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	KAT6A_ENST00000265713.2_Silent_p.E435E|KAT6A_ENST00000485568.1_Silent_p.E435E|KAT6A_ENST00000406337.1_Silent_p.E435E	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	435	Interaction with PML.|Interaction with RUNX1-1.				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)	p.E435E(2)									TTCGATATTGCTCAGAGTAGT	0.448																																							uc010lxb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1303-1305)GAG>GAA		MYST histone acetyltransferase (monocytic							134.0	127.0	129.0					8																	41834584		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:41834584C>T	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.1305G>A	8.37:g.41834584C>T						MYST3_uc010lxc.2_Silent_p.E435E|MYST3_uc003xon.3_Silent_p.E435E|MYST3_uc010lxd.2_Silent_p.E435E	p.E435E	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)		8	1849	-	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)	435			Interaction with RUNX1-1.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.1305G>A	CCDS6124.1																																																																																				0.448	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		20	31	0	0	0	0.007413	0	20	31				
IKBKB	3551	broad.mit.edu	37	8	42176906	42176906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:42176906G>T	ENST00000520810.1	+	14	1669	c.1483G>T	c.(1483-1485)Gag>Tag	p.E495*	IKBKB_ENST00000379708.3_Nonsense_Mutation_p.E272*|IKBKB_ENST00000520835.1_Nonsense_Mutation_p.E493*|IKBKB_ENST00000416505.2_Nonsense_Mutation_p.E436*|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000522785.1_3'UTR	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	495					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.E495*(2)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|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;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GATTGACCTGGAGAAGTACAG	0.428											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003xow.1		NA																	2	Substitution - Nonsense(2)		lung(2)	breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1483-1485)GAG>TAG		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						121.0	113.0	116.0					8																	42176906		2203	4300	6503	SO:0001587	stop_gained	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42176906G>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1483G>T	8.37:g.42176906G>T	ENSP00000430684:p.Glu495*		OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	IKBKB_uc010lxh.1_Nonsense_Mutation_p.E390*|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Nonsense_Mutation_p.E272*|IKBKB_uc003xox.1_Nonsense_Mutation_p.E216*|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Nonsense_Mutation_p.E493*|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Nonsense_Mutation_p.E436*	p.E495*	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		14	1660	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|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)	495					B4DZ30|B4E0U4|O75327	Nonsense_Mutation	SNP	ENST00000520810.1	37	c.1483G>T	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	45	11.384937	0.99554	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	.	.	.	5.95	5.95	0.96441	.	0.047232	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.9698	0.97280	0.0:0.0:1.0:0.0	.	.	.	.	X	495;436;493;272	.	ENSP00000369030:E272X	E	+	1	0	IKBKB	42296063	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GAG		0.428	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			28	44	1	0	1.39806e-14	0.008361	1.82061e-14	28	44				
VDAC3	7419	broad.mit.edu	37	8	42259420	42259420	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:42259420C>T	ENST00000022615.4	+	7	506	c.438C>T	c.(436-438)ttC>ttT	p.F146F	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000392935.3_Silent_p.F147F|VDAC3_ENST00000521158.1_Silent_p.F147F			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	146					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)	p.F146F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGTTGGCCTTCGAAGGGTGGC	0.463																																							uc011lct.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(436-438)TTC>TTT		voltage-dependent anion channel 3 isoform b	Dihydroxyaluminium(DB01375)						113.0	112.0	112.0					8																	42259420		2203	4300	6503	SO:0001819	synonymous_variant	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42259420C>T	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.438C>T	8.37:g.42259420C>T						VDAC3_uc010lxk.2_3'UTR|VDAC3_uc003xpc.2_Silent_p.F147F	p.F146F	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	581	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	146					Q9UIS0	Silent	SNP	ENST00000022615.4	37	c.438C>T	CCDS6131.1																																																																																				0.463	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			13	92	0	0	0	0.00245	0	13	92				
SNTG1	54212	broad.mit.edu	37	8	51363276	51363276	+	Missense_Mutation	SNP	G	G	T	rs145685246		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:51363276G>T	ENST00000522124.1	+	8	1011	c.350G>T	c.(349-351)aGa>aTa	p.R117I	SNTG1_ENST00000276467.5_Missense_Mutation_p.R117I|SNTG1_ENST00000518864.1_Missense_Mutation_p.R117I|SNTG1_ENST00000517473.1_Missense_Mutation_p.R117I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	117	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.R117I(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGAAAATGTAGACATGAAGAA	0.323																																							uc010lxy.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)	5						c.(349-351)AGA>ATA		syntrophin, gamma 1							143.0	134.0	137.0					8																	51363276		2202	4299	6501	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51363276G>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.350G>T	8.37:g.51363276G>T	ENSP00000429842:p.Arg117Ile					SNTG1_uc003xqs.1_Missense_Mutation_p.R117I|SNTG1_uc010lxz.1_Missense_Mutation_p.R117I|SNTG1_uc011ldl.1_RNA	p.R117I	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			9	721	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	117			PDZ.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.350G>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577721	0.45902	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.4	4.52	0.55395	PDZ/DHR/GLGF (4);	0.043062	0.85682	D	0.000000	T	0.40743	0.1129	L	0.33137	0.985	0.80722	D	1	B;P	0.42123	0.27;0.771	B;P	0.49387	0.281;0.609	T	0.32534	-0.9903	10	0.66056	D	0.02	.	8.481	0.33043	0.176:0.0:0.824:0.0	.	117;117	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	117	ENSP00000429276:R117I;ENSP00000429842:R117I;ENSP00000431123:R117I;ENSP00000276467:R117I	ENSP00000276467:R117I	R	+	2	0	SNTG1	51525829	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.070000	0.57548	1.273000	0.44346	0.655000	0.94253	AGA		0.323	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	8	1	0	0.00024832	0.009096	0.000265313	4	8				
ATP6V1H	51606	broad.mit.edu	37	8	54708348	54708348	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:54708348C>T	ENST00000359530.2	-	9	992	c.729G>A	c.(727-729)atG>atA	p.M243I	ATP6V1H_ENST00000355221.3_Missense_Mutation_p.M225I|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.M243I|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.M203I	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	243					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.M225I(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TTGAAAAAATCATTTGATACT	0.378																																							uc003xrl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(727-729)ATG>ATA		ATPase, H+ transporting, lysosomal 50/57kDa, V1							67.0	72.0	71.0					8																	54708348		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54708348C>T	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.729G>A	8.37:g.54708348C>T	ENSP00000352522:p.Met243Ile					ATP6V1H_uc003xrk.2_Missense_Mutation_p.M203I|ATP6V1H_uc003xrm.2_Missense_Mutation_p.M243I|ATP6V1H_uc003xrn.2_Missense_Mutation_p.M225I|ATP6V1H_uc011ldv.1_Missense_Mutation_p.M163I|ATP6V1H_uc010lyd.2_Missense_Mutation_p.M179I	p.M243I	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		9	881	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	243					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.729G>A	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116878	0.56505	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	N	0.02539	-0.55	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.004;0.007	T	0.30387	-0.9980	9	0.13108	T	0.6	-23.4592	20.3539	0.98825	0.0:1.0:0.0:0.0	.	225;243	Q9UI12-2;Q9UI12	.;VATH_HUMAN	I	225;203;243;243	.	ENSP00000347359:M225I	M	-	3	0	ATP6V1H	54870901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	ATG		0.378	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		6	34	0	0	0	0.001984	0	6	34				
SDR16C5	195814	broad.mit.edu	37	8	57218183	57218183	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:57218183A>C	ENST00000303749.3	-	6	1446	c.809T>G	c.(808-810)tTg>tGg	p.L270W	SDR16C5_ENST00000396721.2_Missense_Mutation_p.L226W|SDR16C5_ENST00000522671.1_Missense_Mutation_p.L270W	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	270					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.L270W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GAAGTATAACAACTTTGGCAT	0.358																																							uc003xsy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(808-810)TTG>TGG		epidermal retinal dehydrogenase 2							98.0	98.0	98.0					8																	57218183		2203	4298	6501	SO:0001583	missense	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57218183A>C		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.809T>G	8.37:g.57218183A>C	ENSP00000307607:p.Leu270Trp					SDR16C5_uc010lyk.1_Missense_Mutation_p.L270W|SDR16C5_uc010lyl.1_Missense_Mutation_p.L226W	p.L270W	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN			6	1447	-			270			Helical; (Potential).		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	c.809T>G	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518111	0.27211	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671	D;D;T	0.90069	-2.61;-2.61;0.47	5.63	0.615	0.17608	NAD(P)-binding domain (1);	0.538677	0.20468	N	0.091751	T	0.81494	0.4834	N	0.25890	0.77	0.09310	N	1	B;P;B	0.42296	0.007;0.775;0.26	B;P;B	0.45474	0.023;0.482;0.246	T	0.71892	-0.4455	10	0.41790	T	0.15	.	5.9205	0.19080	0.4409:0.242:0.3171:0.0	.	226;270;270	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	W	226;270;270	ENSP00000379947:L226W;ENSP00000307607:L270W;ENSP00000431010:L270W	ENSP00000307607:L270W	L	-	2	0	SDR16C5	57380737	0.001000	0.12720	0.012000	0.15200	0.043000	0.13939	0.394000	0.20834	0.089000	0.17243	0.533000	0.62120	TTG		0.358	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		10	19	0	0	0	0.008291	0	10	19				
GGH	8836	broad.mit.edu	37	8	63930053	63930053	+	Splice_Site	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:63930053T>C	ENST00000260118.6	-	8	1236	c.834A>G	c.(832-834)gaA>gaG	p.E278E	RP11-659E9.2_ENST00000524309.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	278	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)	p.E278E(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	TCATATTACCTTCATTAACAA	0.358																																							uc003xuw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(832-834)GAA>GAG		gamma-glutamyl hydrolase precursor	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						80.0	81.0	81.0					8																	63930053		2203	4300	6503	SO:0001630	splice_region_variant	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63930053T>C	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.835+1A>G	8.37:g.63930053T>C							p.E278E	NM_003878	NP_003869	Q92820	GGH_HUMAN			8	1117	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	278			Gamma-glutamyl hydrolase.			Silent	SNP	ENST00000260118.6	37	c.834A>G	CCDS6177.1																																																																																				0.358	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1		Silent	7	36	0	0	0	0.008291	0	7	36				
EYA1	2138	broad.mit.edu	37	8	72123457	72123457	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:72123457C>A	ENST00000340726.3	-	17	2271	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	EYA1_ENST00000388741.2_Missense_Mutation_p.R510S|EYA1_ENST00000419131.1_Missense_Mutation_p.R509S|EYA1_ENST00000388743.2_Missense_Mutation_p.R543S|EYA1_ENST00000303824.7_Missense_Mutation_p.R538S|EYA1_ENST00000388740.3_Missense_Mutation_p.R511S|EYA1_ENST00000388742.4_Missense_Mutation_p.R544S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	544					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.R544S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCAAACCTTTGAATTA	0.358																																							uc003xys.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(1630-1632)AGG>AGT		eyes absent 1 isoform b							208.0	182.0	191.0					8																	72123457		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72123457C>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1632G>T	8.37:g.72123457C>A	ENSP00000342626:p.Arg544Ser					EYA1_uc003xyr.3_Missense_Mutation_p.R509S|EYA1_uc003xyt.3_Missense_Mutation_p.R511S|EYA1_uc010lzf.2_Missense_Mutation_p.R471S|EYA1_uc003xyu.2_Missense_Mutation_p.R544S|EYA1_uc011lfe.1_Missense_Mutation_p.R538S|EYA1_uc003xyv.2_Missense_Mutation_p.R422S	p.R544S	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		16	1919	-	Breast(64;0.046)		544					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1632G>T	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474818	0.84640	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.4	5.4	0.78164	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.96648	0.8906	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.996;1.0	D;D;D;D;D	0.87578	0.988;0.992;0.996;0.97;0.998	D	0.96868	0.9637	10	0.72032	D	0.01	-13.7326	12.9507	0.58399	0.0:0.9158:0.0:0.0842	.	538;471;511;544;509	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	S	544;544;512;511;538;510;543;509	ENSP00000373394:R544S;ENSP00000342626:R544S;ENSP00000373392:R511S;ENSP00000303221:R538S;ENSP00000373393:R510S;ENSP00000373395:R543S;ENSP00000410176:R509S	ENSP00000303221:R538S	R	-	3	2	EYA1	72286011	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.234000	0.51320	2.532000	0.85374	0.561000	0.74099	AGG		0.358	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		19	33	1	0	1.15919e-05	0.008871	1.28779e-05	19	33				
KCNB2	9312	broad.mit.edu	37	8	73480521	73480521	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:73480521G>C	ENST00000523207.1	+	2	1140	c.552G>C	c.(550-552)gaG>gaC	p.E184D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	184					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E184D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACTTGCTGGAGAAACCTAACT	0.458																																							uc003xzb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(550-552)GAG>GAC		potassium voltage-gated channel, Shab-related							76.0	82.0	80.0					8																	73480521		2200	4299	6499	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480521G>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.552G>C	8.37:g.73480521G>C	ENSP00000430846:p.Glu184Asp						p.E184D	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1140	+	Breast(64;0.137)		184			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.552G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530021	0.64860	.	.	ENSG00000182674	ENST00000523207	D	0.98178	-4.77	5.66	4.79	0.61399	.	0.380726	0.18731	U	0.132728	D	0.97334	0.9128	M	0.71206	2.165	0.45762	D	0.998658	B	0.28760	0.221	B	0.36378	0.223	D	0.96799	0.9588	10	0.56958	D	0.05	.	10.7501	0.46205	0.1471:0.0:0.8529:0.0	.	184	Q92953	KCNB2_HUMAN	D	184	ENSP00000430846:E184D	ENSP00000430846:E184D	E	+	3	2	KCNB2	73643075	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.125000	0.57931	1.536000	0.49237	-0.136000	0.14681	GAG		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		9	66	0	0	0	0.004482	0	9	66				
ZFHX4	79776	broad.mit.edu	37	8	77617456	77617456	+	Missense_Mutation	SNP	G	G	T	rs374979550		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77617456G>T	ENST00000521891.2	+	2	1581	c.1133G>T	c.(1132-1134)gGc>gTc	p.G378V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G378V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G378V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G378V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	378					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)	p.G378V(2)		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)			TTGCCGGCTGGCTTTGCCTTC	0.522										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1132-1134)GGC>GTC		zinc finger homeodomain 4							68.0	63.0	64.0					8																	77617456		1852	4096	5948	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617456G>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.1133G>T	8.37:g.77617456G>T	ENSP00000430497:p.Gly378Val	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G378V|ZFHX4_uc003yau.1_Missense_Mutation_p.G378V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G378V	p.G378V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1520	+			378					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1133G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997780	0.35226	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56941	0.43;0.47;0.45;0.44	5.53	4.66	0.58398	.	0.000000	0.45361	U	0.000367	T	0.64238	0.2580	L	0.51422	1.61	0.80722	D	1	P;P;D;P	0.54397	0.943;0.836;0.966;0.755	P;P;P;P	0.60473	0.753;0.626;0.875;0.738	T	0.68269	-0.5453	10	0.87932	D	0	.	14.7783	0.69746	0.069:0.0:0.931:0.0	.	378;378;378;378	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	378	ENSP00000430497:G378V;ENSP00000399605:G378V;ENSP00000050961:G378V;ENSP00000430848:G378V	ENSP00000050961:G378V	G	+	2	0	ZFHX4	77780011	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.233000	0.72320	1.580000	0.49851	0.655000	0.94253	GGC		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	44	1	0	5.50884e-06	0.013537	6.16718e-06	11	44				
ZFHX4	79776	broad.mit.edu	37	8	77620118	77620118	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77620118C>A	ENST00000521891.2	+	3	3376	c.2928C>A	c.(2926-2928)caC>caA	p.H976Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H950Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H950Q|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H950Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	950					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)	p.H976Q(2)		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)			TGGTGGCTCACATTAAAGAAG	0.443										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2848-2850)CAC>CAA		zinc finger homeodomain 4							102.0	104.0	103.0					8																	77620118		2185	4286	6471	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77620118C>A		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.2928C>A	8.37:g.77620118C>A	ENSP00000430497:p.His976Gln	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.H950Q|ZFHX4_uc003yau.1_Missense_Mutation_p.H976Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H950Q	p.H950Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		3	3237	+			950					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2850C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800178	0.31869	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.19	5.19	0.71726	.	0.000000	0.45606	U	0.000348	D	0.82609	0.5074	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.996;0.996;0.995	D	0.85433	0.1150	10	0.87932	D	0	.	18.9033	0.92452	0.0:1.0:0.0:0.0	.	950;950;976;950	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Q	976;976;950;950;950	ENSP00000430497:H976Q;ENSP00000399605:H950Q;ENSP00000050961:H950Q;ENSP00000430848:H950Q	ENSP00000050961:H950Q	H	+	3	2	ZFHX4	77782673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.400000	0.44504	2.715000	0.92844	0.585000	0.79938	CAC		0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	41	1	0	8.10497e-08	0.010504	9.55229e-08	20	41				
ZFHX4	79776	broad.mit.edu	37	8	77768223	77768223	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:77768223C>T	ENST00000521891.2	+	10	9514	c.9066C>T	c.(9064-9066)atC>atT	p.I3022I	ZFHX4_ENST00000455469.2_Silent_p.I2977I|ZFHX4_ENST00000050961.6_Silent_p.I2977I|ZFHX4_ENST00000518282.1_Silent_p.I2996I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2977					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)	p.I3006I(2)		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)			GCTTGTCCATCAGAGATCACA	0.507										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8929-8931)ATC>ATT		zinc finger homeodomain 4							57.0	56.0	56.0					8																	77768223		1952	4145	6097	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768223C>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.9066C>T	8.37:g.77768223C>T		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.I3022I|ZFHX4_uc003yaw.1_Silent_p.I2977I	p.I2977I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9318	+			2977			C2H2-type 18.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.8931C>T	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	28	0	0	0	0.013537	0	12	28				
MMP16	4325	broad.mit.edu	37	8	89131063	89131063	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:89131063T>A	ENST00000286614.6	-	5	1018	c.737A>T	c.(736-738)cAt>cTt	p.H246L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	246					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H246L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCCCAGTTCATGGACTGCTAC	0.383																																							uc003yeb.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(736-738)CAT>CTT		matrix metalloproteinase 16 isoform 1							111.0	102.0	105.0					8																	89131063		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89131063T>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.737A>T	8.37:g.89131063T>A	ENSP00000286614:p.His246Leu					MMP16_uc003yec.2_Missense_Mutation_p.H246L	p.H246L	NM_005941	NP_005932	P51512	MMP16_HUMAN			5	1019	-			246			Extracellular (Potential).	Zinc; catalytic (By similarity).	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.737A>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726327	0.89298	.	.	ENSG00000156103	ENST00000286614	D	0.97772	-4.53	5.34	5.34	0.76211	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.975;0.999	D	0.98168	1.0450	10	0.87932	D	0	.	15.3172	0.74089	0.0:0.0:0.0:1.0	.	246;246	P51512-2;P51512	.;MMP16_HUMAN	L	246	ENSP00000286614:H246L	ENSP00000286614:H246L	H	-	2	0	MMP16	89200179	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.040000	0.89188	2.013000	0.59113	0.455000	0.32223	CAT		0.383	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		8	17	0	0	0	0.00308	0	8	17				
VPS13B	157680	broad.mit.edu	37	8	100514053	100514053	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:100514053C>T	ENST00000358544.2	+	26	4120	c.4009C>T	c.(4009-4011)Ctc>Ttc	p.L1337F	VPS13B_ENST00000357162.2_Missense_Mutation_p.L1337F|VPS13B_ENST00000395996.1_Missense_Mutation_p.L1337F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1337					protein transport (GO:0015031)			p.L1337F(2)		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)			TACTATAAAGCTCTTTGCTCC	0.473																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(4009-4011)CTC>TTC		vacuolar protein sorting 13B isoform 5							142.0	144.0	143.0					8																	100514053		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100514053C>T	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.4009C>T	8.37:g.100514053C>T	ENSP00000351346:p.Leu1337Phe					VPS13B_uc003yiw.2_Missense_Mutation_p.L1337F|VPS13B_uc003yiu.1_Missense_Mutation_p.L1337F|VPS13B_uc003yix.1_Missense_Mutation_p.L807F	p.L1337F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		26	4120	+	Breast(36;3.73e-07)		1337					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4009C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906251	0.52333	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.61742	0.08;0.08;0.08	5.22	4.33	0.51752	.	0.000000	0.64402	D	0.000004	T	0.69278	0.3093	L	0.61218	1.895	0.48236	D	0.999615	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;D;D;D	0.85130	0.996;0.985;0.997;0.963	T	0.70490	-0.4857	10	0.66056	D	0.02	.	8.3775	0.32451	0.0:0.821:0.0:0.179	.	1336;1337;1337;1337	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	F	1337	ENSP00000349685:L1337F;ENSP00000351346:L1337F;ENSP00000379318:L1337F	ENSP00000349685:L1337F	L	+	1	0	VPS13B	100583229	1.000000	0.71417	0.969000	0.41365	0.358000	0.29455	2.958000	0.49145	2.589000	0.87451	0.557000	0.71058	CTC		0.473	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		11	89	0	0	0	0.008291	0	11	89				
RIMS2	9699	broad.mit.edu	37	8	104987722	104987722	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:104987722C>T	ENST00000436393.2	+	14	2490	c.2249C>T	c.(2248-2250)cCt>cTt	p.P750L	RIMS2_ENST00000507740.1_Missense_Mutation_p.P764L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P811L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P972L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1034	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.P764L(2)|p.P1039L(1)|p.P750L(1)|p.P972L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAGTGTCCCTCCTCCACAA	0.413										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2248-2250)CCT>CTT		regulating synaptic membrane exocytosis 2							100.0	97.0	98.0					8																	104987722		1909	4118	6027	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104987722C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2249C>T	8.37:g.104987722C>T	ENSP00000390665:p.Pro750Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.P972L|RIMS2_uc003ylw.2_Missense_Mutation_p.P764L|RIMS2_uc003ylq.2_Missense_Mutation_p.P764L|RIMS2_uc003ylr.2_Missense_Mutation_p.P811L|RIMS2_uc003ylt.2_Missense_Mutation_p.P357L	p.P750L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2490	+			1034					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2249C>T		.	.	.	.	.	.	.	.	.	.	C	26.6	4.756590	0.89843	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.38077	1.16;2.31;2.04;1.32;1.3;2.33	4.98	4.98	0.66077	.	.	.	.	.	T	0.62539	0.2436	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.996;1.0;0.999;0.999	T	0.67193	-0.5732	9	0.87932	D	0	.	18.6146	0.91297	0.0:1.0:0.0:0.0	.	1034;1034;750;811;764;972	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	L	972;987;972;1034;811;764;764;750	ENSP00000427018:P972L;ENSP00000384892:P972L;ENSP00000262231:P811L;ENSP00000423559:P764L;ENSP00000386228:P764L;ENSP00000390665:P750L	ENSP00000262231:P811L	P	+	2	0	RIMS2	105056898	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.482000	0.66833	2.474000	0.83562	0.561000	0.74099	CCT		0.413	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		3	13	0	0	0	0.004672	0	3	13				
ANGPT1	284	broad.mit.edu	37	8	108315484	108315484	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:108315484A>G	ENST00000520734.1	-	4	605	c.320T>C	c.(319-321)aTg>aCg	p.M107T	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.M106T			Q15389	ANGP1_HUMAN	angiopoietin 1	307					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.M307T(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGGTTCTGGCATATTATTAAT	0.348																																							uc003ymn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(919-921)ATG>ACG		angiopoietin 1 precursor							71.0	77.0	75.0					8																	108315484		2202	4298	6500	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108315484A>G	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.320T>C	8.37:g.108315484A>G	ENSP00000430750:p.Met107Thr					ANGPT1_uc011lhv.1_Missense_Mutation_p.M107T|ANGPT1_uc003ymo.2_Missense_Mutation_p.M306T|ANGPT1_uc003ymp.3_Missense_Mutation_p.M106T	p.M307T	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		5	1388	-	Breast(1;5.06e-08)		307			Fibrinogen C-terminal.		Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.920T>C		.	.	.	.	.	.	.	.	.	.	A	6.305	0.424383	0.11928	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.45	4.45	0.53987	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.281912	0.40144	N	0.001173	T	0.51432	0.1674	N	0.03154	-0.405	0.30359	N	0.784038	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.19666	0.026;0.0;0.0	T	0.47459	-0.9116	10	0.19590	T	0.45	.	13.9117	0.63871	1.0:0.0:0.0:0.0	.	106;307;307	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	T	307;306;119;107;106	ENSP00000428340:M307T;ENSP00000297450:M306T;ENSP00000430750:M107T;ENSP00000429349:M106T	ENSP00000297450:M306T	M	-	2	0	ANGPT1	108384660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.458000	0.66679	1.862000	0.54008	0.528000	0.53228	ATG		0.348	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		4	24	0	0	0	0.000602	0	4	24				
NUDCD1	84955	broad.mit.edu	37	8	110305589	110305589	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110305589G>C	ENST00000239690.4	-	4	998	c.624C>G	c.(622-624)atC>atG	p.I208M	NUDCD1_ENST00000427660.2_Missense_Mutation_p.I179M	NM_032869.3	NP_116258.2			NudC domain containing 1									p.I208M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TTTTCTTACTGATAGTGACCC	0.363																																							uc003ynb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(622-624)ATC>ATG		NudC domain containing 1 isoform 1							103.0	108.0	106.0					8																	110305589		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110305589G>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.624C>G	8.37:g.110305589G>C	ENSP00000239690:p.Ile208Met					NUDCD1_uc003yna.2_Missense_Mutation_p.I179M|NUDCD1_uc010mcl.2_Missense_Mutation_p.I121M|NUDCD1_uc010mcm.1_Missense_Mutation_p.I121M	p.I208M	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		4	735	-	all_neural(195;0.219)		208						Missense_Mutation	SNP	ENST00000239690.4	37	c.624C>G	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901308	0.33535	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.19105	2.17;2.17	5.93	4.16	0.48862	.	0.219072	0.46442	D	0.000292	T	0.21718	0.0523	M	0.63428	1.95	0.31354	N	0.682204	P;B;P	0.39094	0.624;0.306;0.659	B;B;B	0.36244	0.22;0.166;0.167	T	0.22277	-1.0221	10	0.62326	D	0.03	-2.7479	9.8665	0.41148	0.2292:0.0:0.7708:0.0	.	121;208;179	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	M	208;179	ENSP00000239690:I208M;ENSP00000410707:I179M	ENSP00000239690:I208M	I	-	3	3	NUDCD1	110374765	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.914000	0.28624	0.870000	0.35726	-0.137000	0.14449	ATC		0.363	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		4	46	0	0	0	0.009096	0	4	46				
PKHD1L1	93035	broad.mit.edu	37	8	110457536	110457536	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:110457536G>A	ENST00000378402.5	+	38	5542	c.5438G>A	c.(5437-5439)aGt>aAt	p.S1813N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1813	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S1815N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTGTTAGTGTTGTGGTG	0.468										HNSCC(38;0.096)																													uc003yne.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5437-5439)AGT>AAT		fibrocystin L precursor							112.0	109.0	110.0					8																	110457536		1970	4174	6144	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457536G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5438G>A	8.37:g.110457536G>A	ENSP00000367655:p.Ser1813Asn	HNSCC(38;0.096)					p.S1813N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5542	+			1813			Extracellular (Potential).|IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5438G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451640	0.26074	.	.	ENSG00000205038	ENST00000378402	T	0.79141	-1.24	6.03	5.15	0.70609	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.514735	0.22034	N	0.065560	T	0.73087	0.3542	M	0.62723	1.935	0.09310	N	1	B	0.23650	0.089	B	0.32022	0.139	T	0.59445	-0.7453	10	0.17369	T	0.5	.	8.0374	0.30502	0.0785:0.0:0.7615:0.16	.	1813	Q86WI1	PKHL1_HUMAN	N	1813	ENSP00000367655:S1813N	ENSP00000367655:S1813N	S	+	2	0	PKHD1L1	110526712	0.035000	0.19736	0.563000	0.28383	0.517000	0.34286	2.284000	0.43478	1.547000	0.49401	-0.169000	0.13324	AGT		0.468	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		15	35	0	0	0	0.003163	0	15	35				
CSMD3	114788	broad.mit.edu	37	8	113323366	113323366	+	Missense_Mutation	SNP	G	G	C	rs369267074		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:113323366G>C	ENST00000297405.5	-	50	7970	c.7726C>G	c.(7726-7728)Cct>Gct	p.P2576A	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2536A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2506A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2472A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2576	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2536A(2)|p.P2576A(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCATGAGGTGGGGATTCT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7726-7728)CCT>GCT		CUB and Sushi multiple domains 3 isoform 1							97.0	87.0	90.0					8																	113323366		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113323366G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7726C>G	8.37:g.113323366G>C	ENSP00000297405:p.Pro2576Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1778A|CSMD3_uc003ynt.2_Missense_Mutation_p.P2536A|CSMD3_uc011lhx.1_Missense_Mutation_p.P2472A|CSMD3_uc003ynw.1_Missense_Mutation_p.P287A	p.P2576A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			50	7885	-			2576			Extracellular (Potential).|Sushi 14.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7726C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309836	0.40895	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.179812	0.39687	N	0.001287	T	0.52354	0.1729	N	0.05306	-0.075	0.47621	D	0.99947	P;P;B	0.36183	0.486;0.542;0.02	B;B;B	0.42959	0.281;0.403;0.032	T	0.50423	-0.8830	10	0.08837	T	0.75	.	19.9675	0.97275	0.0:0.0:1.0:0.0	.	2472;2576;2536	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	2536;2576;1846;2472;2506	ENSP00000345799:P2536A;ENSP00000297405:P2576A;ENSP00000341558:P1846A;ENSP00000412263:P2472A;ENSP00000343124:P2506A	ENSP00000297405:P2576A	P	-	1	0	CSMD3	113392542	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.388000	0.66249	2.709000	0.92574	0.655000	0.94253	CCT		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	34	0	0	0	0.00245	0	15	34				
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:113697836G>C	ENST00000297405.5	-	15	2525	c.2281C>G	c.(2281-2283)Ctt>Gtt	p.L761V	CSMD3_ENST00000343508.3_Missense_Mutation_p.L721V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L761V|CSMD3_ENST00000455883.2_Missense_Mutation_p.L657V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	761	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L721V(2)|p.L761V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGAAAGATGTATCCGG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2281-2283)CTT>GTT		CUB and Sushi multiple domains 3 isoform 1							103.0	110.0	107.0					8																	113697836		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697836G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2281C>G	8.37:g.113697836G>C	ENSP00000297405:p.Leu761Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L33V|CSMD3_uc003ynt.2_Missense_Mutation_p.L721V|CSMD3_uc011lhx.1_Missense_Mutation_p.L657V	p.L761V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2440	-			761			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2281C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687220	0.68157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.96	5.09	0.68999	CUB (5);	0.000000	0.64402	D	0.000009	T	0.56645	0.1999	M	0.78637	2.42	0.31181	N	0.702072	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.91635	0.992;0.998;0.999	T	0.64769	-0.6329	10	0.44086	T	0.13	.	15.1353	0.72558	0.0675:0.0:0.9325:0.0	.	657;761;721	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	721;761;101;657;761	ENSP00000345799:L721V;ENSP00000297405:L761V;ENSP00000341558:L101V;ENSP00000412263:L657V;ENSP00000343124:L761V	ENSP00000297405:L761V	L	-	1	0	CSMD3	113767012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.552000	0.73914	1.535000	0.49220	0.655000	0.94253	CTT		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	24	0	0	0	0.008291	0	11	24				
CSMD3	114788	broad.mit.edu	37	8	114185958	114185958	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:114185958G>A	ENST00000297405.5	-	4	946	c.702C>T	c.(700-702)atC>atT	p.I234I	CSMD3_ENST00000343508.3_Silent_p.I194I|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.I234I|CSMD3_ENST00000455883.2_Silent_p.I234I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	234	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I234I(2)|p.I194I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTCTACAGATAGGAACAG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(700-702)ATC>ATT		CUB and Sushi multiple domains 3 isoform 1							104.0	100.0	101.0					8																	114185958		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114185958G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.702C>T	8.37:g.114185958G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.I194I|CSMD3_uc011lhx.1_Silent_p.I234I|CSMD3_uc010mcx.1_Silent_p.I234I	p.I234I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			4	861	-			234			Extracellular (Potential).|Sushi 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.702C>T	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		23	41	0	0	0	0.00278	0	23	41				
TRPS1	7227	broad.mit.edu	37	8	116426548	116426548	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:116426548C>A	ENST00000220888.5	-	6	3708	c.3549G>T	c.(3547-3549)gaG>gaT	p.E1183D	TRPS1_ENST00000395715.3_Missense_Mutation_p.E1196D|TRPS1_ENST00000520276.1_Missense_Mutation_p.E1187D|TRPS1_ENST00000519076.1_Missense_Mutation_p.E937D			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1183	Mediates interaction with RNF4. {ECO:0000250}.|Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1196D(2)|p.E1183D(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTCGTTTTCTCCTTGGAGG	0.413									Langer-Giedion syndrome																														uc003ynz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(3547-3549)GAG>GAT		zinc finger transcription factor TRPS1							78.0	73.0	74.0					8																	116426548		1899	4121	6020	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426548C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3549G>T	8.37:g.116426548C>A	ENSP00000220888:p.Glu1183Asp					TRPS1_uc011lhy.1_Missense_Mutation_p.E1187D|TRPS1_uc003yny.2_Missense_Mutation_p.E1196D|TRPS1_uc010mcy.2_Missense_Mutation_p.E1183D	p.E1183D	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	4008	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1183			Transcriptional repressor domain (By similarity).|Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3549G>T		.	.	.	.	.	.	.	.	.	.	C	15.75	2.924684	0.52653	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.98550	-4.99;-4.97;-4.94;-4.97	5.58	4.52	0.55395	.	0.251142	0.41001	D	0.000978	D	0.96969	0.9010	L	0.34521	1.04	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.996	P;P;P	0.55999	0.789;0.621;0.789	D	0.96085	0.9057	10	0.87932	D	0	.	9.5419	0.39257	0.0:0.799:0.0:0.201	.	1187;1183;1196	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	D	1196;1183;937;1187	ENSP00000379065:E1196D;ENSP00000220888:E1183D;ENSP00000428910:E937D;ENSP00000428680:E1187D	ENSP00000220888:E1183D	E	-	3	2	TRPS1	116495724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.263000	0.43293	2.607000	0.88179	0.655000	0.94253	GAG		0.413	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		12	46	1	0	7.03913e-09	0.013537	8.48905e-09	12	46				
TRPS1	7227	broad.mit.edu	37	8	116599299	116599299	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:116599299C>A	ENST00000220888.5	-	4	2749	c.2590G>T	c.(2590-2592)Ggg>Tgg	p.G864W	TRPS1_ENST00000519674.1_Missense_Mutation_p.G864W|TRPS1_ENST00000395715.3_Missense_Mutation_p.G877W|TRPS1_ENST00000520276.1_Missense_Mutation_p.G868W|TRPS1_ENST00000519076.1_Missense_Mutation_p.G618W			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	864					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G877W(2)|p.G864W(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGAGGGCCCCAGACTTCTCT	0.547									Langer-Giedion syndrome																														uc003ynz.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2590-2592)GGG>TGG		zinc finger transcription factor TRPS1							42.0	43.0	42.0					8																	116599299		1810	4074	5884	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599299C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2590G>T	8.37:g.116599299C>A	ENSP00000220888:p.Gly864Trp					TRPS1_uc011lhy.1_Missense_Mutation_p.G868W|TRPS1_uc003yny.2_Missense_Mutation_p.G877W|TRPS1_uc010mcy.2_Missense_Mutation_p.G864W	p.G864W	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	3049	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		864					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2590G>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.043786	0.75732	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98602	-5.02;-4.99;-4.98;-5.0;0.85	5.76	5.76	0.90799	.	0.444177	0.25400	N	0.030949	D	0.97685	0.9241	L	0.29908	0.895	0.50467	D	0.999871	P;P;D	0.55172	0.896;0.95;0.97	P;P;P	0.56042	0.487;0.458;0.79	D	0.98799	1.0739	10	0.87932	D	0	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	868;864;877	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	W	877;864;618;868;864	ENSP00000379065:G877W;ENSP00000220888:G864W;ENSP00000428910:G618W;ENSP00000428680:G868W;ENSP00000429174:G864W	ENSP00000220888:G864W	G	-	1	0	TRPS1	116668474	0.998000	0.40836	0.859000	0.33776	0.716000	0.41182	6.175000	0.71949	2.726000	0.93360	0.655000	0.94253	GGG		0.547	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		24	72	1	0	1.9806e-07	0.014323	2.31548e-07	24	72				
COL14A1	7373	broad.mit.edu	37	8	121295936	121295936	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:121295936C>G	ENST00000297848.3	+	32	4156	c.3886C>G	c.(3886-3888)Cct>Gct	p.P1296A	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1201A|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1296A	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.P1296A(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCGGATTCTTCCTGACACTCC	0.388																																							uc003yox.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3886-3888)CCT>GCT		collagen, type XIV, alpha 1 precursor							135.0	127.0	130.0					8																	121295936		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121295936C>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3886C>G	8.37:g.121295936C>G	ENSP00000297848:p.Pro1296Ala					COL14A1_uc003yoz.2_Missense_Mutation_p.P261A	p.P1296A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		32	4151	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1296			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3886C>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632194	0.87660	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02323	4.34;4.34;4.34	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.049775	0.85682	D	0.000000	T	0.10895	0.0266	L	0.52364	1.645	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.01287	-1.1395	10	0.51188	T	0.08	.	19.2777	0.94039	0.0:1.0:0.0:0.0	.	1296	Q05707	COEA1_HUMAN	A	1296;1296;1201	ENSP00000311809:P1296A;ENSP00000297848:P1296A;ENSP00000247781:P1201A	ENSP00000247781:P1201A	P	+	1	0	COL14A1	121365117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.969000	0.63735	2.551000	0.86045	0.462000	0.41574	CCT		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		15	67	0	0	0	0.004007	0	15	67				
TBC1D31	93594	broad.mit.edu	37	8	124113096	124113096	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:124113096A>C	ENST00000287380.1	+	7	971	c.881A>C	c.(880-882)cAg>cCg	p.Q294P	TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q294P|TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q189P|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q294P|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q189P|TBC1D31_ENST00000518805.1_5'Flank|TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q189P	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	294						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.Q294P(2)									ATCAATATGCAGACTTGTAAA	0.353																																							uc003ypp.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(880-882)CAG>CCG		WD repeat domain 67 isoform 1							87.0	85.0	86.0					8																	124113096		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124113096A>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.881A>C	8.37:g.124113096A>C	ENSP00000287380:p.Gln294Pro					WDR67_uc011lig.1_Missense_Mutation_p.Q294P|WDR67_uc011lih.1_Missense_Mutation_p.Q184P|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.Q7P|WDR67_uc003ypo.1_Missense_Mutation_p.Q294P|WDR67_uc003ypr.2_RNA	p.Q294P	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		7	971	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		294					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.881A>C	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639443	0.47153	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000543408;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T	0.65549	-0.16;1.65;1.65;1.59;1.59;1.59	5.26	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.307086	0.32719	N	0.005725	T	0.58878	0.2153	L	0.54323	1.7	0.47245	D	0.999362	P;P;P;P	0.49961	0.883;0.93;0.902;0.627	B;P;B;B	0.44860	0.274;0.462;0.327;0.063	T	0.63233	-0.6683	10	0.52906	T	0.07	-8.1328	11.1732	0.48584	0.9265:0.0:0.0735:0.0	.	294;189;294;294	B7ZL19;E7ERK7;Q96DN5;Q3KRB0	.;.;WDR67_HUMAN;.	P	294;294;173;294;189;189;189	ENSP00000287380:Q294P;ENSP00000308358:Q294P;ENSP00000312701:Q294P;ENSP00000429334:Q189P;ENSP00000430628:Q189P;ENSP00000367320:Q189P	ENSP00000287380:Q294P	Q	+	2	0	WDR67	124182277	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	5.570000	0.67398	1.995000	0.58328	0.454000	0.30748	CAG		0.353	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		8	26	0	0	0	0.00308	0	8	26				
FAM83A	84985	broad.mit.edu	37	8	124219708	124219708	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:124219708A>C	ENST00000518448.1	+	5	3099	c.1085A>C	c.(1084-1086)cAc>cCc	p.H362P	FAM83A_ENST00000318462.6_Missense_Mutation_p.H362P|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	362	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGCCCCACACCCGCCTCCA	0.766																																							uc003ypv.2		NA																	0				ovary(3)|skin(1)	4						c.(1084-1086)CAC>CCC		hypothetical protein LOC84985 isoform a							5.0	7.0	6.0					8																	124219708		1904	3885	5789	SO:0001583	missense	84985							g.chr8:124219708A>C	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1085A>C	8.37:g.124219708A>C	ENSP00000428876:p.His362Pro					FAM83A_uc003ypw.2_Intron|FAM83A_uc003ypy.2_Intron|FAM83A_uc003ypx.2_Missense_Mutation_p.H362P|FAM83A_uc003ypz.2_Intron	p.H362P	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3099	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		362			Pro-rich.		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.1085A>C	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	A	5.552	0.286635	0.10513	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.08008	3.14;3.14	4.97	-0.905	0.10527	.	1.114660	0.06760	N	0.781560	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45026	-0.9289	10	0.26408	T	0.33	-11.7612	2.1492	0.03795	0.3763:0.3547:0.146:0.123	.	362	Q86UY5	FA83A_HUMAN	P	362	ENSP00000428876:H362P;ENSP00000323034:H362P	ENSP00000323034:H362P	H	+	2	0	FAM83A	124288889	0.000000	0.05858	0.415000	0.26534	0.195000	0.23768	-0.129000	0.10515	-0.061000	0.13110	0.358000	0.22013	CAC		0.766	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		5	19	0	0	0	0.00308	0	5	19				
ADCY8	114	broad.mit.edu	37	8	131812783	131812783	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:131812783C>T	ENST00000286355.5	-	15	5041	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ADCY8_ENST00000377928.3_Silent_p.V852V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	983					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.V983V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCAAACATCACCCCAACAG	0.493										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2947-2949)GTG>GTA		adenylate cyclase 8							146.0	128.0	134.0					8																	131812783		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131812783C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2949G>A	8.37:g.131812783C>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.V852V	p.V983V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		15	3205	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		983			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.2949G>A	CCDS6363.1																																																																																				0.493	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			17	94	0	0	0	0.004007	0	17	94				
ADCY8	114	broad.mit.edu	37	8	131955633	131955633	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:131955633G>C	ENST00000286355.5	-	4	3409	c.1317C>G	c.(1315-1317)ctC>ctG	p.L439L	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.L439L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	439					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.L439L(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAGCTCGTTGAGCATCCTGA	0.473										HNSCC(32;0.087)																													uc003ytd.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1315-1317)CTC>CTG		adenylate cyclase 8							60.0	56.0	58.0					8																	131955633		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131955633G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1317C>G	8.37:g.131955633G>C		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.L439L	p.L439L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		4	1573	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		439			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.1317C>G	CCDS6363.1																																																																																				0.473	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			4	19	0	0	0	0.001168	0	4	19				
DENND3	22898	broad.mit.edu	37	8	142190928	142190928	+	Silent	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:142190928G>T	ENST00000262585.2	+	17	2957	c.2679G>T	c.(2677-2679)gcG>gcT	p.A893A	DENND3_ENST00000519811.1_Silent_p.A973A|DENND3_ENST00000424248.1_Silent_p.A841A|DENND3_ENST00000518806.1_3'UTR	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	893					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A893A(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCACAAGCGGTGGACGTGC	0.577																																							uc003yvy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2677-2679)GCG>GCT		DENN/MADD domain containing 3							62.0	58.0	59.0					8																	142190928		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142190928G>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2679G>T	8.37:g.142190928G>T						DENND3_uc010mep.2_Silent_p.A854A	p.A893A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		17	2957	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		893					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2679G>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	4.758	0.140958	0.09083	.	.	ENSG00000105339	ENST00000518668	.	.	.	4.61	0.698	0.18087	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	T	0.21042	-1.0257	4	.	.	.	-25.6476	1.0723	0.01624	0.2585:0.3376:0.2323:0.1717	.	.	.	.	C	898	.	.	G	+	1	0	DENND3	142260110	0.567000	0.26626	0.001000	0.08648	0.000000	0.00434	-0.116000	0.10724	-0.180000	0.10637	-1.097000	0.02148	GGT		0.577	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		21	60	1	0	1.01871e-10	0.008871	1.25994e-10	21	60				
BAI1	575	broad.mit.edu	37	8	143623974	143623974	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143623974A>G	ENST00000517894.1	+	28	5273	c.4379A>G	c.(4378-4380)gAg>gGg	p.E1460G	BAI1_ENST00000323289.5_Missense_Mutation_p.E1460G			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1460	Necessary for interaction with MAGI1.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1460G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCAAGAACGAGAATGTCGCC	0.726																																							uc003ywm.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(4378-4380)GAG>GGG		brain-specific angiogenesis inhibitor 1							3.0	3.0	3.0					8																	143623974		1743	3452	5195	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623974A>G	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4379A>G	8.37:g.143623974A>G	ENSP00000430945:p.Glu1460Gly						p.E1460G	NM_001702	NP_001693	O14514	BAI1_HUMAN			27	4562	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1460			Cytoplasmic (Potential).|Necessary for interaction with MAGI1.			Missense_Mutation	SNP	ENST00000517894.1	37	c.4379A>G		.	.	.	.	.	.	.	.	.	.	A	16.61	3.171038	0.57584	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.32753	1.44;1.44	3.81	3.81	0.43845	.	0.152719	0.42053	U	0.000773	T	0.52125	0.1715	M	0.72118	2.19	0.53688	D	0.999974	D	0.71674	0.998	D	0.78314	0.991	T	0.56577	-0.7956	10	0.87932	D	0	.	11.81	0.52177	1.0:0.0:0.0:0.0	.	1460	E9PBK0	.	G	1460	ENSP00000430945:E1460G;ENSP00000313046:E1460G	ENSP00000313046:E1460G	E	+	2	0	BAI1	143620976	1.000000	0.71417	0.922000	0.36590	0.929000	0.56500	4.026000	0.57232	1.371000	0.46172	0.449000	0.29647	GAG		0.726	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		2	3	0	0	0	0.004672	0	2	3				
LY6K	54742	broad.mit.edu	37	8	143784660	143784660	+	Silent	SNP	A	A	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143784660A>G	ENST00000292430.6	+	3	786	c.369A>G	c.(367-369)ttA>ttG	p.L123L	LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000561179.1_Silent_p.L181L			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	123	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L181L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACTGCAATTTAGAGGGGCCAC	0.532																																							uc011ljv.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(367-369)TTA>TTG		lymphocyte antigen 6 complex, locus K isoform 1							103.0	102.0	102.0					8																	143784660		2203	4300	6503	SO:0001819	synonymous_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143784660A>G	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.369A>G	8.37:g.143784660A>G						LY6K_uc011ljw.1_3'UTR|LY6K_uc011ljx.1_3'UTR	p.L123L	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN			3	786	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		123			UPAR/Ly6.		G3V116|O15227|Q9BVD7	Silent	SNP	ENST00000292430.6	37	c.369A>G	CCDS6385.2																																																																																				0.532	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		11	79	0	0	0	0.008291	0	11	79				
GML	2765	broad.mit.edu	37	8	143928027	143928027	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143928027C>T	ENST00000220940.1	+	4	488	c.398C>T	c.(397-399)cCa>cTa	p.P133L		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	133	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)		p.P133L(3)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGAGCTTCCAGAAGGAACT	0.463																																							uc003yxg.2		NA																	3	Substitution - Missense(3)		lung(2)|NS(1)	central_nervous_system(2)	2						c.(397-399)CCA>CTA		glycosylphosphatidylinositol anchored molecule							107.0	104.0	105.0					8																	143928027		2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143928027C>T	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.398C>T	8.37:g.143928027C>T	ENSP00000220940:p.Pro133Leu						p.P133L	NM_002066	NP_002057	Q99445	GML_HUMAN			4	488	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		133			UPAR/Ly6.		A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.398C>T	CCDS6391.1	.	.	.	.	.	.	.	.	.	.	N	6.207	0.406305	0.11754	.	.	ENSG00000104499	ENST00000220940	T	0.40756	1.02	2.36	-0.697	0.11284	.	1.363710	0.05594	N	0.575121	T	0.24198	0.0586	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15263	-1.0443	10	0.24483	T	0.36	-47.4197	1.7114	0.02893	0.2849:0.3419:0.0:0.3731	.	133	Q99445	GML_HUMAN	L	133	ENSP00000220940:P133L	ENSP00000220940:P133L	P	+	2	0	GML	143925029	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.237000	0.08990	-0.186000	0.10533	-0.321000	0.08615	CCA		0.463	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		14	46	0	0	0	0.001855	0	14	46				
CYP11B1	1584	broad.mit.edu	37	8	143955876	143955876	+	Silent	SNP	T	T	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143955876T>A	ENST00000292427.4	-	9	1457	c.1425A>T	c.(1423-1425)acA>acT	p.T475T	CYP11B1_ENST00000377675.3_Silent_p.T546T|CYP11B1_ENST00000517471.1_Silent_p.T409T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	475					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.T475T(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTTGGGTTAGTGTCTCCACCT	0.542									Familial Hyperaldosteronism type I																														uc003yxi.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1423-1425)ACA>ACT		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						197.0	162.0	174.0					8																	143955876		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143955876T>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1425A>T	8.37:g.143955876T>A						CYP11B1_uc010mex.2_Silent_p.T174T|CYP11B1_uc003yxh.2_Silent_p.T125T|CYP11B1_uc003yxj.2_Silent_p.T409T|CYP11B1_uc010mey.2_Silent_p.T546T	p.T475T	NM_000497	NP_000488	P15538	C11B1_HUMAN			9	1432	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		475					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.1425A>T	CCDS6392.1																																																																																				0.542	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			29	66	0	0	0	0.012213	0	29	66				
CYP11B2	1585	broad.mit.edu	37	8	143995833	143995833	+	Splice_Site	SNP	A	A	G	rs201063442	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:143995833A>G	ENST00000323110.2	-	5	803	c.801T>C	c.(799-801)ggT>ggC	p.G267G		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	267					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.G267G(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TACAGTTGTCACCTGTCCAGG	0.577									Familial Hyperaldosteronism type I				.|||	27	0.00539137	0.0197	0.0014	5008	,	,		18700	0.0		0.0	False		,,,				2504	0.0						uc003yxk.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(799-801)GGT>GGC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)																																			SO:0001630	splice_region_variant	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143995833A>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.800-1T>C	8.37:g.143995833A>G							p.G267G	NM_000498	NP_000489	P19099	C11B2_HUMAN			5	804	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		267					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.801T>C	CCDS6393.1																																																																																				0.577	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		Silent	7	23	0	0	0	0.00308	0	7	23				
C8orf31	286122	broad.mit.edu	37	8	144124453	144124453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:144124453C>A	ENST00000395172.1	+	2	387	c.35C>A	c.(34-36)tCa>tAa	p.S12*	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	12								p.S12*(2)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCTGCAATTCAGTGAGGCAG	0.607																																							uc003yxp.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(34-36)TCA>TAA		hypothetical protein LOC286122							79.0	82.0	81.0					8																	144124453		2203	4300	6503	SO:0001587	stop_gained	286122							g.chr8:144124453C>A		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.35C>A	8.37:g.144124453C>A	ENSP00000378601:p.Ser12*					C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_Intron	p.S12*	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN			2	387	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		12					Q6GMU7	Nonsense_Mutation	SNP	ENST00000395172.1	37	c.35C>A	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	c	15.96	2.987172	0.53934	.	.	ENSG00000177335	ENST00000395172	.	.	.	1.03	-2.06	0.07298	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0611	0.06199	0.1995:0.4071:0.0:0.3935	.	.	.	.	X	12	.	ENSP00000378601:S12X	S	+	2	0	C8orf31	144195828	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.196000	0.09532	-2.157000	0.00789	-1.783000	0.00646	TCA		0.607	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		21	68	1	0	4.96729e-08	0.008871	5.87338e-08	21	68				
ZC3H3	23144	broad.mit.edu	37	8	144522323	144522323	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:144522323C>T	ENST00000262577.5	-	11	2734	c.2703G>A	c.(2701-2703)gcG>gcA	p.A901A		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	901					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGTTGGAGCACGCTGCTGCTA	0.662																																							uc003yyd.2		NA																	0				skin(1)	1						c.(2701-2703)GCG>GCA		zinc finger CCCH-type containing 3							36.0	34.0	35.0					8																	144522323		2201	4299	6500	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522323C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2703G>A	8.37:g.144522323C>T							p.A901A	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2732	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		901					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.2703G>A	CCDS6402.1																																																																																				0.662	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		3	11	0	0	0	0.009096	0	3	11				
OPLAH	26873	broad.mit.edu	37	8	145108219	145108219	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:145108219C>G	ENST00000426825.1	-	20	2845	c.2764G>C	c.(2764-2766)Gac>Cac	p.D922H	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	922					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.D922H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCACGGAGGTCCGACAGGTTG	0.652																																							uc003zar.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2764-2766)GAC>CAC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						51.0	59.0	56.0					8																	145108219		2088	4209	6297	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145108219C>G	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2764G>C	8.37:g.145108219C>G	ENSP00000475943:p.Asp922His					OPLAH_uc003zas.1_Missense_Mutation_p.G196A	p.D922H	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		20	2846	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		922					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2764G>C		.	.	.	.	.	.	.	.	.	.	C	13.27	2.186805	0.38609	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	.	.	.	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.84553	0.0645	7	0.87932	D	0	.	14.8067	0.69962	0.0:1.0:0.0:0.0	.	922	O14841	OPLA_HUMAN	H	922	.	ENSP00000412071:D922H	D	-	1	0	OPLAH	145180207	0.999000	0.42202	0.994000	0.49952	0.713000	0.41058	4.278000	0.58946	2.069000	0.61940	0.448000	0.29417	GAC		0.652	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		13	37	0	0	0	0.013537	0	13	37				
ZNF16	7564	broad.mit.edu	37	8	146157923	146157923	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:146157923C>T	ENST00000276816.4	-	4	436	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E84K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	84	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E84K(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCAAATCTTCATGAATGTCT	0.423																																							uc003zet.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(250-252)GAA>AAA		zinc finger protein 16							101.0	95.0	97.0					8																	146157923		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157923C>T	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.250G>A	8.37:g.146157923C>T	ENSP00000276816:p.Glu84Lys					ZNF16_uc003zeu.2_Missense_Mutation_p.E84K	p.E84K	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	437	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	84					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.250G>A	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892643	0.33442	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.56611	2.73;2.73;4.56;0.45	4.24	0.213	0.15244	.	.	.	.	.	T	0.26666	0.0652	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17349	-1.0372	9	0.25106	T	0.35	.	5.3639	0.16103	0.0:0.5782:0.1484:0.2734	.	84	P17020	ZNF16_HUMAN	K	84	ENSP00000276816:E84K;ENSP00000378369:E84K;ENSP00000434321:E84K;ENSP00000432755:E84K	ENSP00000276816:E84K	E	-	1	0	ZNF16	146128727	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.364000	0.20325	0.083000	0.17047	-0.253000	0.11424	GAA		0.423	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		11	67	0	0	0	0.008291	0	11	67				
DOCK8	81704	broad.mit.edu	37	9	286583	286583	+	Silent	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:286583G>C	ENST00000453981.1	+	3	391	c.279G>C	c.(277-279)gtG>gtC	p.V93V	DOCK8_ENST00000469391.1_Silent_p.V25V|DOCK8_ENST00000432829.2_Silent_p.V25V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V93V(2)|p.V25V(2)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTTGGACGTGGTGTTCACGC	0.493																																							uc003zgf.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(3)|central_nervous_system(3)	6						c.(277-279)GTG>GTC		dedicator of cytokinesis 8							140.0	122.0	128.0					9																	286583		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:286583G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.279G>C	9.37:g.286583G>C						DOCK8_uc011lls.1_Silent_p.V93V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.V25V|DOCK8_uc010mgt.2_Silent_p.V25V|DOCK8_uc003zgg.2_Silent_p.V25V|DOCK8_uc003zgh.2_RNA	p.V93V	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	3	391	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	93					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.279G>C	CCDS6440.2																																																																																				0.493	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		16	13	0	0	0	0.00499	0	16	13				
DMRT2	10655	broad.mit.edu	37	9	1056458	1056458	+	Missense_Mutation	SNP	C	C	A	rs372851397	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:1056458C>A	ENST00000358146.2	+	3	871	c.871C>A	c.(871-873)Cca>Aca	p.P291T	DMRT2_ENST00000382251.3_Missense_Mutation_p.P291T|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.P291T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	291					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P291T(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CAGCCCCAGCCCAGTGGAACC	0.483																																							uc003zha.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(871-873)CCA>ACA		doublesex and mab-3 related transcription factor							81.0	77.0	78.0					9																	1056458		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056458C>A	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.871C>A	9.37:g.1056458C>A	ENSP00000350865:p.Pro291Thr					DMRT2_uc003zgx.3_Missense_Mutation_p.P58T|DMRT2_uc010mgz.2_Missense_Mutation_p.P58T|DMRT2_uc003zgy.3_Missense_Mutation_p.P135T|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P291T	p.P291T	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	4	1071	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	291					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.871C>A	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	2.841	-0.240511	0.05944	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.22945	1.93;1.93;1.93	5.53	3.65	0.41850	.	0.589252	0.18145	N	0.150270	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	0.999991	P;B	0.36282	0.546;0.152	B;B	0.32864	0.154;0.036	T	0.06734	-1.0810	10	0.46703	T	0.11	-5.78	12.0373	0.53433	0.1331:0.7313:0.1356:0.0	.	291;135	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	T	291	ENSP00000371686:P291T;ENSP00000305785:P291T;ENSP00000350865:P291T	ENSP00000305785:P291T	P	+	1	0	DMRT2	1046458	0.085000	0.21516	0.012000	0.15200	0.246000	0.25737	1.392000	0.34486	0.679000	0.31345	-0.238000	0.12139	CCA		0.483	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		13	49	1	0	1.61879e-10	0.013537	1.99532e-10	13	49				
RIC1	57589	broad.mit.edu	37	9	5743005	5743005	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:5743005A>C	ENST00000414202.2	+	9	1229	c.1038A>C	c.(1036-1038)ggA>ggC	p.G346G	KIAA1432_ENST00000449720.2_Silent_p.G267G|KIAA1432_ENST00000251879.6_Silent_p.G346G|KIAA1432_ENST00000381532.2_Silent_p.G267G|KIAA1432_ENST00000418622.3_Silent_p.G267G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.G267G(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CACTTGGAGGAGATTTTGCGT	0.373																																							uc003zji.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(799-801)GGA>GGC		connexin 43-interacting protein 150 isoform a							149.0	147.0	148.0					9																	5743005		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5743005A>C																												ENST00000414202.2:c.1038A>C	9.37:g.5743005A>C						KIAA1432_uc003zjh.2_Silent_p.G267G|KIAA1432_uc003zjl.3_Silent_p.G267G|KIAA1432_uc003zjj.1_5'UTR	p.G267G	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	8	894	+		Acute lymphoblastic leukemia(23;0.154)	346						Silent	SNP	ENST00000414202.2	37	c.801A>C	CCDS34982.2																																																																																				0.373	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			4	16	0	0	0	0.000602	0	4	16				
FAM154A	158297	broad.mit.edu	37	9	18941665	18941665	+	Missense_Mutation	SNP	C	C	T	rs144484870	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:18941665C>T	ENST00000380534.4	-	3	670	c.391G>A	c.(391-393)Gac>Aac	p.D131N	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	131								p.D131N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCCATCTTGTCGCTACATGGA	0.493																																							uc003zni.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(391-393)GAC>AAC		hypothetical protein LOC158297			ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	157.0	134.0	142.0		391	3.0	0.0	9	dbSNP_134	142	14,8586	10.5+/-38.8	0,14,4286	yes	missense	FAM154A	NM_153707.2	23	0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153	benign	131/475	18941665	15,12991	2203	4300	6503	SO:0001583	missense	158297							g.chr9:18941665C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.391G>A	9.37:g.18941665C>T	ENSP00000369907:p.Asp131Asn					FAM154A_uc010mip.1_Intron	p.D131N	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	3	669	-			131					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.391G>A	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.120454	0.00346	2.27E-4	0.001628	ENSG00000155875	ENST00000380534	T	0.17213	2.29	5.84	3.03	0.35002	.	0.559952	0.17229	N	0.182013	T	0.18383	0.0441	L	0.60455	1.87	0.09310	N	0.999999	B	0.12013	0.005	B	0.22880	0.042	T	0.21484	-1.0244	10	0.28530	T	0.3	-7.3318	11.0007	0.47604	0.0:0.7841:0.0:0.2159	.	131	Q8IYX7	F154A_HUMAN	N	131	ENSP00000369907:D131N	ENSP00000369907:D131N	D	-	1	0	FAM154A	18931665	0.364000	0.24997	0.015000	0.15790	0.008000	0.06430	0.669000	0.25142	0.117000	0.18138	-2.101000	0.00361	GAC		0.493	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		20	33	0	0	0	0.010504	0	20	33				
SLC24A2	25769	broad.mit.edu	37	9	19785946	19785946	+	Missense_Mutation	SNP	C	C	T	rs377522340		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:19785946C>T	ENST00000341998.2	-	1	980	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A307T	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	307					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)	p.A307T(2)		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)		TTTGCTTGGGCTTCTGGTGCT	0.378																																							uc003zoa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(919-921)GCC>ACC		solute carrier family 24		C	THR/ALA,THR/ALA	0,4406		0,0,2203	129.0	129.0	129.0		919,919	4.4	1.0	9		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC24A2	NM_001193288.2,NM_020344.3	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	307/645,307/662	19785946	1,13005	2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19785946C>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.919G>A	9.37:g.19785946C>T	ENSP00000344801:p.Ala307Thr					SLC24A2_uc003zob.1_Missense_Mutation_p.A307T	p.A307T	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	981	-			307			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.919G>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	7.057	0.565645	0.13560	0.0	1.16E-4	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.74947	-0.89;-0.88	5.5	4.41	0.53225	.	0.309657	0.37348	N	0.002125	T	0.55178	0.1904	N	0.19112	0.55	0.43683	D	0.996125	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.001	T	0.49570	-0.8926	9	.	.	.	.	8.1942	0.31387	0.0:0.7085:0.1437:0.1478	.	307;307	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	T	307	ENSP00000344801:A307T;ENSP00000286344:A307T	.	A	-	1	0	SLC24A2	19775946	0.517000	0.26226	1.000000	0.80357	0.989000	0.77384	0.428000	0.21395	2.579000	0.87056	0.655000	0.94253	GCC		0.378	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		13	39	0	0	0	0.001855	0	13	39				
CDKN2A	1029	broad.mit.edu	37	9	21971203	21971203	+	Missense_Mutation	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:21971203A>C	ENST00000304494.5	-	2	425	c.155T>G	c.(154-156)aTg>aGg	p.M52R	CDKN2A_ENST00000579122.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000494262.1_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.H66Q|CDKN2A_ENST00000498628.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000479692.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.H107Q|CDKN2A_ENST00000578845.2_Start_Codon_SNP_p.M1R|CDKN2A_ENST00000579755.1_Missense_Mutation_p.H66Q|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.M52R|CDKN2A_ENST00000497750.1_Start_Codon_SNP_p.M1R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	52					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.M52K(4)|p.M52R(4)|p.M52fs*2(3)|p.H107Q(2)|p.0(1)|p.V28_V51del(1)|p.H107fs*>68(1)|p.M52fs*68(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCATCATCATGACCTGCCA	0.672		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													uc003zpk.2		17																	1377	Whole gene deletion(1316)|Unknown(45)|Substitution - Missense(10)|Insertion - Frameshift(4)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.0?(1112)|p.?(14)|p.M52K(4)|p.M52I(3)|p.M52fs*68(2)|p.M52fs*2(1)|p.V28_V51del(1)|p.M52L(1)	haematopoietic_and_lymphoid_tissue(286)|skin(174)|central_nervous_system(167)|lung(152)|urinary_tract(92)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(51)|ovary(36)|breast(33)|kidney(32)|pancreas(31)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(8)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(154-156)ATG>AGG		cyclin-dependent kinase inhibitor 2A isoform 1							8.0	9.0	8.0					9																	21971203		2065	4131	6196	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971203A>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.155T>G	9.37:g.21971203A>C	ENSP00000307101:p.Met52Arg	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.H107Q	p.M52R	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	367	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	52			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.155T>G	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.30|18.30	3.594693|3.594693	0.66219|0.66219	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.75704|0.64438	-0.96;-0.93|-0.1;-0.1	5.89|5.89	5.89|5.89	0.94794|0.94794	.|Ankyrin repeat-containing domain (4);	0.589407|.	0.14174|.	N|.	0.336533|.	T|T	0.52581|0.52581	0.1743|0.1743	L|L	0.29908|0.29908	0.895|0.895	0.37272|0.37272	D|D	0.907451|0.907451	P|P	0.49961|0.46020	0.93|0.871	P|B	0.44860|0.40602	0.462|0.334	T|T	0.63541|0.63541	-0.6614|-0.6614	10|9	0.54805|0.59425	T|D	0.06|0.04	-3.4075|-3.4075	15.286|15.286	0.73828|0.73828	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	107|52	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	Q|R	107;66|52	ENSP00000355153:H107Q;ENSP00000432664:H66Q|ENSP00000307101:M52R;ENSP00000394932:M52R	ENSP00000355153:H107Q|ENSP00000307101:M52R	H|M	-|-	3|2	2|0	CDKN2A|CDKN2A	21961203|21961203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	8.205000|8.205000	0.89743|0.89743	2.245000|2.245000	0.73994|0.73994	0.454000|0.454000	0.30748|0.30748	CAT|ATG		0.672	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	9	0	0	0	0.010729	0	10	9				
ELAVL2	1993	broad.mit.edu	37	9	23762245	23762245	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:23762245C>A	ENST00000397312.2	-	0	262				ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000544538.1_De_novo_Start_OutOfFrame|ELAVL2_ENST00000380110.4_Missense_Mutation_p.Q25H|ELAVL2_ENST00000380117.1_Splice_Site|ELAVL2_ENST00000223951.6_De_novo_Start_OutOfFrame	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAGCAATTACCTGCTAAAAAC	0.393																																							uc003zpu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(-14--10)CAGGT>CATGT		ELAV (embryonic lethal, abnormal vision,							177.0	168.0	171.0					9																	23762245		2203	4300	6503			1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23762245C>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.-13G>T	9.37:g.23762245C>A						ELAVL2_uc003zps.2_Translation_Start_Site|ELAVL2_uc003zpt.2_Translation_Start_Site|ELAVL2_uc003zpv.2_Splice_Site|ELAVL2_uc003zpw.2_Splice_Site		NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	2	263	-								D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Translation_Start_Site	SNP	ENST00000397312.2	37	c.-12G>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825436	0.71143	.	.	ENSG00000107105	ENST00000359598	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELAVL2	23752245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.810000	0.96702	0.585000	0.79938	.		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		21	30	1	0	4.63292e-17	0.008871	6.16591e-17	21	30				
UBAP2	55833	broad.mit.edu	37	9	33927814	33927814	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:33927814G>A	ENST00000379238.1	-	20	2469	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	UBAP2_ENST00000449054.1_Silent_p.A784A|UBAP2_ENST00000360802.1_Silent_p.A784A|UBAP2_ENST00000379239.4_Silent_p.A517A|UBAP2_ENST00000379235.1_Silent_p.A23A|UBAP2_ENST00000539807.1_Silent_p.A539A					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCAAGGGCGCGGCCCTGCTAC	0.652																																							uc003ztq.1		NA																	0				ovary(3)	3						c.(2350-2352)GCC>GCT		ubiquitin associated protein 2							76.0	78.0	77.0					9																	33927814		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33927814G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2352C>T	9.37:g.33927814G>A						UBAP2_uc011loc.1_Silent_p.A693A|UBAP2_uc011lod.1_Silent_p.A517A|UBAP2_uc011loe.1_Silent_p.A539A|UBAP2_uc011lof.1_Silent_p.A709A|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Silent_p.A23A|UBAP2_uc003zto.1_Silent_p.A23A|UBAP2_uc003ztp.1_Silent_p.A23A	p.A784A	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	20	2465	-			784						Silent	SNP	ENST00000379238.1	37	c.2352C>T	CCDS6547.1																																																																																				0.652	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		4	98	0	0	0	0.000602	0	4	98				
UNC13B	10497	broad.mit.edu	37	9	35370326	35370326	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35370326G>T	ENST00000378495.3	+	12	1448	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	UNC13B_ENST00000378496.4_Missense_Mutation_p.G409V|UNC13B_ENST00000396787.1_Missense_Mutation_p.G421V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	409					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.G409V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCCGGAGGGCTCTATGGC	0.512																																							uc003zwq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|skin(1)	5						c.(1225-1227)GGG>GTG		UNC13 (C. elegans)-like							96.0	86.0	89.0					9																	35370326		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35370326G>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1226G>T	9.37:g.35370326G>T	ENSP00000367756:p.Gly409Val					UNC13B_uc010mkl.1_Missense_Mutation_p.G417C|UNC13B_uc003zwr.2_Missense_Mutation_p.G409V	p.G409V	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		12	1518	+	all_epithelial(49;0.212)		409					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.1226G>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117189	0.77323	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	T;T;T	0.65178	-0.14;-0.14;-0.14	6.17	6.17	0.99709	.	0.058179	0.64402	D	0.000001	T	0.68403	0.2997	L	0.52905	1.665	0.80722	D	1	P;P	0.50528	0.936;0.709	P;B	0.50490	0.642;0.167	T	0.67385	-0.5684	10	0.49607	T	0.09	-23.3665	17.7333	0.88384	0.0:0.122:0.878:0.0	.	409;409	F8W8M9;O14795	.;UN13B_HUMAN	V	421;409;409	ENSP00000380006:G421V;ENSP00000367756:G409V;ENSP00000367757:G409V	ENSP00000367756:G409V	G	+	2	0	UNC13B	35360326	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.908000	0.69916	2.941000	0.99782	0.655000	0.94253	GGG		0.512	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		12	28	1	0	5.16669e-11	0.010729	6.42297e-11	12	28				
TLN1	7094	broad.mit.edu	37	9	35719611	35719611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35719611C>T	ENST00000314888.9	-	15	1945	c.1592G>A	c.(1591-1593)tGg>tAg	p.W531*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.W531*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	531					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.W531*(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTACGCCAGGCCTTAGA	0.512																																							uc003zxt.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(1591-1593)TGG>TAG		talin 1							130.0	125.0	126.0					9																	35719611		2203	4300	6503	SO:0001587	stop_gained	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35719611C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1592G>A	9.37:g.35719611C>T	ENSP00000316029:p.Trp531*						p.W531*	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		15	1946	-	all_epithelial(49;0.167)		531					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Nonsense_Mutation	SNP	ENST00000314888.9	37	c.1592G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	41	9.086895	0.99061	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2747	20.2079	0.98282	0.0:1.0:0.0:0.0	.	.	.	.	X	531	.	ENSP00000316029:W531X	W	-	2	0	TLN1	35709611	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.781000	0.95711	0.655000	0.94253	TGG		0.512	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		17	76	0	0	0	0.004007	0	17	76				
POLR1E	64425	broad.mit.edu	37	9	37486630	37486630	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:37486630C>T	ENST00000377792.3	+	1	481	c.193C>T	c.(193-195)Cca>Tca	p.P65S	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGTCTAGTCCCACCgtacat	0.552																																					Ovarian(116;843 1620 18506 32459 34463)	Ovarian(116;843 1620 18506 32459 34463)	uc003zzz.1		NA																	0					0						c.(193-195)CCA>TCA		RNA polymerase I associated factor 53																																				SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37486630C>T	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377792.3:c.193C>T	9.37:g.37486630C>T	ENSP00000367023:p.Pro65Ser					POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron	p.P65S	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	1	481	+			65					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377792.3	37	c.193C>T		.	.	.	.	.	.	.	.	.	.	C	15.31	2.794293	0.50102	.	.	ENSG00000137054	ENST00000377792	T	0.30981	1.51	3.22	2.17	0.27698	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.09310	N	0.999999	B	0.12013	0.005	B	0.06405	0.002	T	0.18493	-1.0335	8	0.46703	T	0.11	.	4.4938	0.11826	0.0:0.7676:0.0:0.2324	.	65	Q9GZS1	RPA49_HUMAN	S	65	ENSP00000367023:P65S	ENSP00000367023:P65S	P	+	1	0	POLR1E	37476630	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	0.185000	0.16958	0.762000	0.33152	0.555000	0.69702	CCA		0.552	POLR1E-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052465.1	NM_022490		15	42	0	0	0	0.003163	0	15	42				
TRPM3	80036	broad.mit.edu	37	9	73213554	73213554	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:73213554C>T	ENST00000377111.2	-	20	3036	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	TRPM3_ENST00000408909.2_Silent_p.Q790Q|TRPM3_ENST00000396292.4_Silent_p.Q803Q|TRPM3_ENST00000358082.3_Silent_p.Q793Q|TRPM3_ENST00000423814.3_Silent_p.Q958Q|TRPM3_ENST00000357533.2_Silent_p.Q935Q|TRPM3_ENST00000377106.1_Silent_p.Q803Q|TRPM3_ENST00000396285.1_Silent_p.Q778Q|TRPM3_ENST00000360823.2_Silent_p.Q793Q|TRPM3_ENST00000396280.5_Silent_p.Q780Q|TRPM3_ENST00000377110.3_Silent_p.Q931Q|TRPM3_ENST00000377105.1_Silent_p.Q790Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	956					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.Q803Q(1)|p.Q935Q(1)|p.Q931Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTTCACTTTCTGTAGCAACT	0.493																																							uc004aid.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2791-2793)CAG>CAA		transient receptor potential cation channel,							114.0	101.0	105.0					9																	73213554		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73213554C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2793G>A	9.37:g.73213554C>T						TRPM3_uc004ahu.2_Silent_p.Q761Q|TRPM3_uc004ahv.2_Silent_p.Q733Q|TRPM3_uc004ahw.2_Silent_p.Q803Q|TRPM3_uc004ahx.2_Silent_p.Q790Q|TRPM3_uc004ahy.2_Silent_p.Q793Q|TRPM3_uc004ahz.2_Silent_p.Q780Q|TRPM3_uc004aia.2_Silent_p.Q778Q|TRPM3_uc004aib.2_Silent_p.Q768Q|TRPM3_uc004aic.2_Silent_p.Q931Q	p.Q931Q	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			20	3037	-			956			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.2793G>A		.	.	.	.	.	.	.	.	.	.	C	7.664	0.685499	0.14973	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.17	1.07	0.20283	.	.	.	.	.	T	0.57814	0.2079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51725	-0.8669	4	.	.	.	-16.7109	9.769	0.40578	0.0:0.53:0.0:0.47	.	.	.	.	K	780	.	.	E	-	1	0	TRPM3	72403374	0.996000	0.38824	0.999000	0.59377	0.961000	0.63080	0.546000	0.23284	0.246000	0.21394	0.573000	0.79308	GAA		0.493	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		14	58	0	0	0	0.00245	0	14	58				
SPATA31D5P	347127	broad.mit.edu	37	9	84530475	84530475	+	RNA	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:84530475C>T	ENST00000527857.1	+	0	497					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCTTTGTGTCCCCTTTGGCTT	0.532																																							uc011lst.1		NA																	0					0						c.(394-396)TCC>TCT		SubName: Full=cDNA FLJ43950 fis, clone TESTI4015293, moderately similar to FAM75-like protein;																																						347127							g.chr9:84530475C>T			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530475C>T							p.S132S	NR_026851						4	497	+									Silent	SNP	ENST00000527857.1	37	c.396C>T																																																																																					0.532	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		11	12	0	0	0	0.013537	0	11	12				
FRMD3	257019	broad.mit.edu	37	9	85863297	85863297	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:85863297C>T	ENST00000304195.3	-	14	1536	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	FRMD3_ENST00000328788.1_Missense_Mutation_p.E101K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E250K|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.E444K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	444						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.E444K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TACACTAGTTCAGAGATGGTT	0.493																																							uc004ams.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1330-1332)GAA>AAA		FERM domain containing 3							124.0	121.0	122.0					9																	85863297		1935	4134	6069	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863297C>T	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1330G>A	9.37:g.85863297C>T	ENSP00000303508:p.Glu444Lys					FRMD3_uc004amr.1_Missense_Mutation_p.E430K|FRMD3_uc004amq.1_Missense_Mutation_p.E101K	p.E444K	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			14	1532	-			444					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1330G>A	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285634	0.80803	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.88664	-1.99;-2.41;0.19;-1.96	5.68	5.68	0.88126	.	0.047500	0.85682	D	0.000000	D	0.93409	0.7898	M	0.61703	1.905	0.58432	D	0.999997	P;D;D	0.71674	0.907;0.971;0.998	P;P;D	0.78314	0.65;0.81;0.991	D	0.90759	0.4663	10	0.24483	T	0.36	.	19.8666	0.96804	0.0:1.0:0.0:0.0	.	444;444;101	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	K	444;250;101;444	ENSP00000365621:E444K;ENSP00000365617:E250K;ENSP00000328615:E101K;ENSP00000303508:E444K	ENSP00000303508:E444K	E	-	1	0	FRMD3	85053117	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	4.055000	0.57441	2.707000	0.92482	0.650000	0.86243	GAA		0.493	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		20	41	0	0	0	0.007413	0	20	41				
SLC28A3	64078	broad.mit.edu	37	9	86902971	86902971	+	Missense_Mutation	SNP	C	C	A	rs148078245	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:86902971C>A	ENST00000376238.4	-	12	1321	c.1272G>T	c.(1270-1272)atG>atT	p.M424I	SLC28A3_ENST00000537648.1_Missense_Mutation_p.M355I|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	424					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.M424I(2)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ACCCACTTTCCATTTTCATGG	0.458																																					Ovarian(106;425 1539 34835 42413 43572)	Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(1270-1272)ATG>ATT		concentrative Na+-nucleoside cotransporter							167.0	166.0	166.0					9																	86902971		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86902971C>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1272G>T	9.37:g.86902971C>A	ENSP00000365413:p.Met424Ile					SLC28A3_uc011lsy.1_Missense_Mutation_p.M355I|SLC28A3_uc004anu.1_Missense_Mutation_p.M424I	p.M424I	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			12	1397	-			424			Extracellular (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1272G>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129734	0.37630	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.01725	4.88;4.67	5.6	4.69	0.59074	Na dependent nucleoside transporter, C-terminal (1);	0.231208	0.51477	D	0.000092	T	0.01124	0.0037	N	0.05592	-0.015	0.39656	D	0.970545	B	0.11235	0.004	B	0.17098	0.017	T	0.60459	-0.7259	10	0.22706	T	0.39	-34.4432	7.1443	0.25575	0.0:0.7091:0.147:0.1439	.	424	Q9HAS3	S28A3_HUMAN	I	424;355	ENSP00000365413:M424I;ENSP00000446438:M355I	ENSP00000365413:M424I	M	-	3	0	SLC28A3	86092791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.387000	0.34430	2.786000	0.95864	0.561000	0.74099	ATG		0.458	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		34	43	1	0	4.65686e-17	0.003755	6.19209e-17	34	43				
SPATA31C1	441452	broad.mit.edu	37	9	90535364	90535364	+	RNA	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:90535364C>G	ENST00000602681.1	+	0	1268							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCTCCACCCCACCACCAGGC	0.607																																							uc010mqi.2		NA																	0					0						c.(541-543)CCA>CGA		family with sequence similarity 75, member C1							31.0	35.0	34.0					9																	90535364		692	1589	2281			441452							g.chr9:90535364C>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535364C>G						FAM75C1_uc004apq.3_Missense_Mutation_p.P164R	p.P181R	NM_001145124	NP_001138596					4	571	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.542C>G																																																																																					0.607	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		71	110	0	0	0	0.01441	0	71	110				
SYK	6850	broad.mit.edu	37	9	93650153	93650153	+	Nonsense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:93650153T>G	ENST00000375754.4	+	12	1852	c.1704T>G	c.(1702-1704)taT>taG	p.Y568*	SYK_ENST00000375746.1_Nonsense_Mutation_p.Y568*|SYK_ENST00000375751.4_Nonsense_Mutation_p.Y545*|SYK_ENST00000375747.1_Nonsense_Mutation_p.Y545*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CATTCTCCTATGGGCAGAAGC	0.468			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																		uc004aqz.2		NA		Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1702-1704)TAT>TAG		spleen tyrosine kinase isoform 1							122.0	119.0	120.0					9																	93650153		2203	4300	6503	SO:0001587	stop_gained	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650153T>G	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1704T>G	9.37:g.93650153T>G	ENSP00000364907:p.Tyr568*					SYK_uc004ara.2_Nonsense_Mutation_p.Y545*|SYK_uc004arb.2_Nonsense_Mutation_p.Y545*|SYK_uc004arc.2_Nonsense_Mutation_p.Y568*|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.Y568*	NM_003177	NP_003168	P43405	KSYK_HUMAN			12	1909	+			568			Protein kinase.			Nonsense_Mutation	SNP	ENST00000375754.4	37	c.1704T>G	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729002	0.69074	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	.	.	.	4.77	-9.54	0.00572	.	0.068236	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0174	0.53321	0.0:0.5487:0.1008:0.3505	.	.	.	.	X	568;545;545;568	.	ENSP00000364898:Y568X	Y	+	3	2	SYK	92689974	0.000000	0.05858	0.259000	0.24435	0.142000	0.21351	-2.445000	0.01011	-2.119000	0.00827	-1.488000	0.00978	TAT		0.468	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			8	98	0	0	0	0.00245	0	8	98				
FGD3	89846	broad.mit.edu	37	9	95773525	95773525	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:95773525A>T	ENST00000375482.3	+	8	1502	c.1006A>T	c.(1006-1008)Aac>Tac	p.N336Y	FGD3_ENST00000416701.2_Missense_Mutation_p.N336Y|FGD3_ENST00000337352.6_Missense_Mutation_p.N336Y	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.N336Y(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CACAGCCGCCAACCACTCCAA	0.637																																							uc004asw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1006-1008)AAC>TAC		FYVE, RhoGEF and PH domain containing 3							65.0	77.0	73.0					9																	95773525		2107	4251	6358	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95773525A>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1006A>T	9.37:g.95773525A>T	ENSP00000364631:p.Asn336Tyr					FGD3_uc004asx.2_Missense_Mutation_p.N336Y|FGD3_uc004asz.2_Missense_Mutation_p.N336Y|FGD3_uc004ata.2_Missense_Mutation_p.N139Y	p.N336Y	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			8	1634	+			336			DH.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1006A>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	a	16.53	3.150417	0.57151	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.63580	-0.05;-0.05;-0.05	4.08	1.63	0.23807	Dbl homology (DH) domain (5);	0.298779	0.19371	N	0.115901	T	0.73976	0.3656	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	0.96;1.0;0.984	P;D;P	0.74023	0.693;0.982;0.903	T	0.70806	-0.4772	10	0.72032	D	0.01	.	6.3438	0.21337	0.6396:0.0:0.3604:0.0	.	336;336;336	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	Y	336	ENSP00000364631:N336Y;ENSP00000413833:N336Y;ENSP00000336914:N336Y	ENSP00000336914:N336Y	N	+	1	0	FGD3	94813346	0.996000	0.38824	0.978000	0.43139	0.658000	0.38924	3.380000	0.52448	0.112000	0.17975	0.379000	0.24179	AAC		0.637	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		4	79	0	0	0	0.009096	0	4	79				
WNK2	65268	broad.mit.edu	37	9	96025976	96025976	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:96025976G>T	ENST00000297954.4	+	14	3539	c.3539G>T	c.(3538-3540)cGg>cTg	p.R1180L	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R1180L|WNK2_ENST00000427277.2_Missense_Mutation_p.R792L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.R792L	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1180					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1180L(1)|p.R1166L(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCGCGCTCCCGGCAGGAGAGG	0.701																																							uc004ati.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(3538-3540)CGG>CTG		WNK lysine deficient protein kinase 2																																				SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96025976G>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3539G>T	9.37:g.96025976G>T	ENSP00000297954:p.Arg1180Leu					WNK2_uc011lud.1_Missense_Mutation_p.R1180L|WNK2_uc004atj.2_Missense_Mutation_p.R1180L|WNK2_uc004atk.2_Missense_Mutation_p.R817L	p.R1180L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			14	3539	+			1180					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3539G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	36|36	5.644940|5.644940	0.96704|0.96704	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.38722	.|1.12;1.12;1.12;1.12	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67069|0.67069	0.2854|0.2854	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.997	.|D;D;D;D	.|0.91635	.|0.996;0.998;0.999;0.987	T|T	0.70124|0.70124	-0.4958|-0.4958	5|10	.|0.87932	.|D	.|0	.|.	19.358|19.358	0.94422|0.94422	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1180;783;1180;1180	.|Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	C|L	1176|1180;1180;792;792	.|ENSP00000297954:R1180L;ENSP00000378860:R1180L;ENSP00000297876:R792L;ENSP00000411181:R792L	.|ENSP00000297954:R1180L	G|R	+|+	1|2	0|0	WNK2|WNK2	95065797|95065797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.998000|8.998000	0.93550|0.93550	2.656000|2.656000	0.90262|0.90262	0.552000|0.552000	0.68991|0.68991	GGC|CGG		0.701	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	3	1	0	0.004672	0.004672	0.004818	3	3				
PTCH1	5727	broad.mit.edu	37	9	98242849	98242849	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:98242849C>G	ENST00000331920.6	-	6	1067	c.768G>C	c.(766-768)tgG>tgC	p.W256C	PTCH1_ENST00000437951.1_Missense_Mutation_p.W190C|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000418258.1_Missense_Mutation_p.W105C|PTCH1_ENST00000421141.1_Missense_Mutation_p.W105C|PTCH1_ENST00000430669.2_Missense_Mutation_p.W190C|PTCH1_ENST00000429896.2_Missense_Mutation_p.W105C|PTCH1_ENST00000375274.2_Missense_Mutation_p.W255C	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	256					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)	p.W256C(4)|p.W255C(4)|p.W256*(1)		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)				CGAAGTTTGTCCACCGCAAAG	0.458																																							uc004avk.3		NA																	9	Substitution - Missense(8)|Substitution - Nonsense(1)	p.W256*(1)	lung(8)|skin(1)	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.(766-768)TGG>TGC		patched isoform L							81.0	80.0	81.0					9																	98242849		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.chr9:98242849C>G	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.768G>C	9.37:g.98242849C>G	ENSP00000332353:p.Trp256Cys					PTCH1_uc010mro.2_Missense_Mutation_p.W105C|PTCH1_uc010mrp.2_Missense_Mutation_p.W105C|PTCH1_uc010mrq.2_Missense_Mutation_p.W105C|PTCH1_uc004avl.3_Missense_Mutation_p.W105C|PTCH1_uc010mrr.2_Missense_Mutation_p.W190C|PTCH1_uc004avm.3_Missense_Mutation_p.W255C|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA	p.W256C	NM_000264	NP_000255	Q13635	PTC1_HUMAN			6	956	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	256			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.768G>C	CCDS6714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.452587|4.452587	0.84209|0.84209	.|.	.|.	ENSG00000185920|ENSG00000185920	ENST00000544247|ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820	.|D;D;D;D;D;D;D;D;D;D;D	.|0.99405	.|-5.78;-5.68;-5.69;-5.69;-5.68;-5.69;-5.84;-3.51;-3.51;-3.51;-3.51	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99622|0.99622	0.9862|0.9862	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.98333|0.98333	1.0534|1.0534	6|10	0.62326|0.87932	D|D	0.03|0	-14.8518|-14.8518	20.2187|20.2187	0.98312|0.98312	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|190;255;256	.|Q13635-3;Q13635-2;Q13635	.|.;.;PTC1_HUMAN	A|C	73|256;190;105;105;190;105;255;105;105;105;105	.|ENSP00000332353:W256C;ENSP00000389744:W190C;ENSP00000399981:W105C;ENSP00000396135:W105C;ENSP00000410287:W190C;ENSP00000414823:W105C;ENSP00000364423:W255C;ENSP00000447797:W105C;ENSP00000447008:W105C;ENSP00000447878:W105C;ENSP00000448843:W105C	ENSP00000439213:G73A|ENSP00000332353:W256C	G|W	-|-	2|3	0|0	PTCH1|PTCH1	97282670|97282670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.456000|7.456000	0.80751|0.80751	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.458	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		14	40	0	0	0	0.00245	0	14	40				
HABP4	22927	broad.mit.edu	37	9	99227767	99227767	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:99227767G>T	ENST00000375249.4	+	3	736	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4									p.G221W(2)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AAGATATGGTGGGAATGACAA	0.418																																							uc010msg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(661-663)GGG>TGG		hyaluronan binding protein 4							100.0	109.0	106.0					9																	99227767		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227767G>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.661G>T	9.37:g.99227767G>T	ENSP00000364398:p.Gly221Trp					HABP4_uc010msh.2_Intron	p.G221W	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN			3	809	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	221						Missense_Mutation	SNP	ENST00000375249.4	37	c.661G>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444593	0.63178	.	.	ENSG00000130956	ENST00000375249	T	0.60920	0.15	4.86	3.95	0.45737	Hyaluronan/mRNA-binding protein (1);	0.275476	0.41396	D	0.000895	T	0.77624	0.4158	M	0.87381	2.88	0.40094	D	0.976291	D	0.89917	1.0	D	0.91635	0.999	T	0.82518	-0.0417	10	0.87932	D	0	-9.4417	12.7071	0.57067	0.0813:0.0:0.9187:0.0	.	221	Q5JVS0	HABP4_HUMAN	W	221	ENSP00000364398:G221W	ENSP00000364398:G221W	G	+	1	0	HABP4	98267588	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	3.940000	0.56599	1.379000	0.46325	0.644000	0.83932	GGG		0.418	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		26	50	1	0	3.65163e-15	0.00632	4.77672e-15	26	50				
ZNF189	7743	broad.mit.edu	37	9	104171922	104171922	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:104171922G>T	ENST00000339664.2	+	3	2001	c.1872G>T	c.(1870-1872)tgG>tgT	p.W624C	ZNF189_ENST00000374861.3_Missense_Mutation_p.W610C|ZNF189_ENST00000259395.4_Missense_Mutation_p.W582C	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	624					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W624C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACAGCATGGATGCAATAAA	0.393																																							uc004bbh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(1870-1872)TGG>TGT		zinc finger protein 189 isoform 1							53.0	53.0	53.0					9																	104171922		2202	4299	6501	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171922G>T	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1872G>T	9.37:g.104171922G>T	ENSP00000342019:p.Trp624Cys					ZNF189_uc004bbg.1_Missense_Mutation_p.W582C|ZNF189_uc004bbi.1_Missense_Mutation_p.W610C|ZNF189_uc011lvk.1_Missense_Mutation_p.W609C	p.W624C	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	2148	+		Acute lymphoblastic leukemia(62;0.0559)	624					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.1872G>T	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259636	0.39995	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.05382	3.52;3.53;3.45	4.36	4.36	0.52297	Zinc finger, C2H2 (1);	0.000000	0.40640	N	0.001053	T	0.05731	0.0150	N	0.14661	0.345	0.80722	D	1	D;D;P	0.54397	0.96;0.966;0.928	B;B;B	0.43728	0.429;0.152;0.236	T	0.39121	-0.9629	10	0.87932	D	0	.	15.2261	0.73352	0.0:0.0:1.0:0.0	.	609;610;624	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	C	610;624;582	ENSP00000363995:W610C;ENSP00000342019:W624C;ENSP00000259395:W582C	ENSP00000259395:W582C	W	+	3	0	ZNF189	103211743	0.986000	0.35501	1.000000	0.80357	0.985000	0.73830	1.527000	0.35975	2.725000	0.93324	0.655000	0.94253	TGG		0.393	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		7	23	1	0	2.0095e-06	0.001984	2.28488e-06	7	23				
GRIN3A	116443	broad.mit.edu	37	9	104335781	104335781	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:104335781G>A	ENST00000361820.3	-	9	3623	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1008					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.P1008L(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAGCTGACGGGGTCCCACATT	0.448																																							uc004bbp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(3022-3024)CCC>CTC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						89.0	87.0	87.0					9																	104335781		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104335781G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3023C>T	9.37:g.104335781G>A	ENSP00000355155:p.Pro1008Leu					GRIN3A_uc004bbo.1_Missense_Mutation_p.P83L	p.P1008L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			9	3624	-		Acute lymphoblastic leukemia(62;0.0568)	1008			Cytoplasmic (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.3023C>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689999	0.29962	.	.	ENSG00000198785	ENST00000361820	T	0.10477	2.87	5.57	2.6	0.31112	.	3.663620	0.00424	N	0.000073	T	0.09774	0.0240	L	0.31926	0.97	0.44816	D	0.997824	B	0.33413	0.411	B	0.33196	0.159	T	0.45716	-0.9242	10	0.32370	T	0.25	.	3.6938	0.08357	0.085:0.1121:0.4895:0.3134	.	1008	Q8TCU5	NMD3A_HUMAN	L	1008	ENSP00000355155:P1008L	ENSP00000355155:P1008L	P	-	2	0	GRIN3A	103375602	1.000000	0.71417	0.958000	0.39756	0.328000	0.28507	3.241000	0.51376	1.506000	0.48736	-0.126000	0.14955	CCC		0.448	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			17	47	0	0	0	0.004007	0	17	47				
OR13C3	138803	broad.mit.edu	37	9	107298654	107298654	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:107298654C>A	ENST00000374781.2	-	1	483	c.441G>T	c.(439-441)atG>atT	p.M147I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M147I(2)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CAAATGCCATCATGCCAAGAA	0.463																																					GBM(86;1248 1274 14222 15028 46219)	GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(439-441)ATG>ATT		olfactory receptor, family 13, subfamily C,							229.0	195.0	207.0					9																	107298654		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298654C>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.441G>T	9.37:g.107298654C>A	ENSP00000363913:p.Met147Ile						p.M147I	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			1	441	-			147			Helical; Name=3; (Potential).		Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.441G>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	C	7.685	0.689789	0.14973	.	.	ENSG00000204246	ENST00000374781	T	0.01918	4.56	4.72	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.01489	0.0048	N	0.14661	0.345	0.28714	N	0.903389	B	0.17852	0.024	B	0.13407	0.009	T	0.38779	-0.9645	10	0.54805	T	0.06	.	4.2489	0.10684	0.1818:0.6276:0.0:0.1906	.	147	Q8NGS6	O13C3_HUMAN	I	147	ENSP00000363913:M147I	ENSP00000363913:M147I	M	-	3	0	OR13C3	106338475	0.000000	0.05858	1.000000	0.80357	0.648000	0.38561	-1.480000	0.02325	0.713000	0.32060	-0.229000	0.12294	ATG		0.463	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			33	53	1	0	9.04072e-19	0.003271	1.21323e-18	33	53				
DFNB31	25861	broad.mit.edu	37	9	117228579	117228579	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:117228579G>A	ENST00000362057.3	-	3	1099	c.931C>T	c.(931-933)Cca>Tca	p.P311S	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	311	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.P311S(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGAGCCTGGGTCCACGCCA	0.602																																							uc004biz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(931-933)CCA>TCA		CASK-interacting protein CIP98 isoform 1							87.0	81.0	83.0					9																	117228579		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117228579G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.931C>T	9.37:g.117228579G>A	ENSP00000354623:p.Pro311Ser					DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.P311S	p.P311S	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			3	1580	-			311			PDZ 2.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.931C>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530928	0.27387	.	.	ENSG00000095397	ENST00000362057	T	0.21543	2.0	5.01	0.819	0.18785	PDZ/DHR/GLGF (4);	0.871205	0.10586	N	0.657357	T	0.17959	0.0431	L	0.33293	1	0.36210	D	0.851285	B;B	0.21520	0.057;0.026	B;B	0.29176	0.099;0.068	T	0.13124	-1.0521	10	0.62326	D	0.03	-1.8544	9.0746	0.36513	0.0:0.3553:0.2875:0.3571	.	311;311	B9EGE6;Q9P202	.;WHRN_HUMAN	S	311	ENSP00000354623:P311S	ENSP00000354623:P311S	P	-	1	0	DFNB31	116268400	0.197000	0.23362	0.600000	0.28864	0.699000	0.40488	0.438000	0.21559	-0.046000	0.13446	-0.479000	0.04858	CCA		0.602	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		37	56	0	0	0	0.004878	0	37	56				
OR1N2	138882	broad.mit.edu	37	9	125315507	125315507	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:125315507G>C	ENST00000373688.2	+	1	117	c.59G>C	c.(58-60)aGa>aCa	p.R20T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20T(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AAACCAGGCAGAGTGAACCAA	0.448																																							uc011lyx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(58-60)AGA>ACA		olfactory receptor, family 1, subfamily N,							106.0	102.0	104.0					9																	125315507		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315507G>C		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.59G>C	9.37:g.125315507G>C	ENSP00000362792:p.Arg20Thr						p.R20T	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	59	+			20			Extracellular (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.59G>C	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	6.984	0.551570	0.13374	.	.	ENSG00000171501	ENST00000373688	T	0.09630	2.96	3.17	0.212	0.15240	.	1.342720	0.05030	N	0.474392	T	0.07773	0.0195	L	0.28014	0.82	0.18873	N	0.999985	B	0.18741	0.03	B	0.14578	0.011	T	0.39121	-0.9629	10	0.33940	T	0.23	.	4.1104	0.10057	0.2213:0.0:0.5927:0.1859	.	20	Q8NGR9	OR1N2_HUMAN	T	20	ENSP00000362792:R20T	ENSP00000362792:R20T	R	+	2	0	OR1N2	124355328	.	.	0.001000	0.08648	0.559000	0.35586	.	.	0.051000	0.15978	0.644000	0.83932	AGA		0.448	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			13	47	0	0	0	0.001855	0	13	47				
OR1L4	254973	broad.mit.edu	37	9	125486593	125486593	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:125486593G>A	ENST00000259466.1	+	1	325	c.325G>A	c.(325-327)Ggg>Agg	p.G109R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G109R(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATGGCATTTGGGAACACTGA	0.473																																							uc004bmu.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(325-327)GGG>AGG		olfactory receptor, family 1, subfamily L,							148.0	134.0	139.0					9																	125486593		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486593G>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.325G>A	9.37:g.125486593G>A	ENSP00000259466:p.Gly109Arg						p.G109R	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	325	+			109			Helical; Name=3; (Potential).		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.325G>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.365922	0.24684	.	.	ENSG00000136939	ENST00000259466	T	0.01347	4.99	4.01	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.480216	0.19197	N	0.120276	T	0.07188	0.0182	M	0.90369	3.11	0.09310	N	1	P	0.39903	0.694	P	0.47941	0.562	T	0.00986	-1.1490	10	0.87932	D	0	3.316	15.1199	0.72434	0.0:0.0:1.0:0.0	.	109	Q8NGR5	OR1L4_HUMAN	R	109	ENSP00000259466:G109R	ENSP00000259466:G109R	G	+	1	0	OR1L4	124526414	0.001000	0.12720	0.611000	0.29010	0.141000	0.21300	0.993000	0.29680	2.079000	0.62486	0.298000	0.19748	GGG		0.473	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			41	54	0	0	0	0.006999	0	41	54				
GOLGA1	2800	broad.mit.edu	37	9	127651448	127651448	+	Nonsense_Mutation	SNP	C	C	A	rs191239055		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:127651448C>A	ENST00000373555.4	-	18	2068	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	579					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.E579*(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAGAGTGCTTCGGCCTGCAAT	0.657																																							uc004bpc.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1735-1737)GAA>TAA		golgin 97							58.0	49.0	52.0					9																	127651448		2203	4300	6503	SO:0001587	stop_gained	2800					Golgi cisterna membrane		g.chr9:127651448C>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1735G>T	9.37:g.127651448C>A	ENSP00000362656:p.Glu579*					GOLGA1_uc010mws.2_RNA	p.E579*	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			18	2077	-			579			Potential.		Q5T164|Q8IYZ9	Nonsense_Mutation	SNP	ENST00000373555.4	37	c.1735G>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326328	0.60743	.	.	ENSG00000136935	ENST00000373555	.	.	.	3.32	-6.65	0.01795	.	4.911050	0.01640	U	0.024003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	1.7992	0.03068	0.3349:0.3666:0.1168:0.1817	.	.	.	.	X	579	.	ENSP00000362656:E579X	E	-	1	0	GOLGA1	126691269	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.321000	0.01119	-3.323000	0.00187	0.448000	0.29417	GAA		0.657	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		26	32	1	0	8.24728e-16	0.004656	1.0847e-15	26	32				
COL5A1	1289	broad.mit.edu	37	9	137688241	137688241	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:137688241C>T	ENST00000371817.3	+	35	3235	c.2821C>T	c.(2821-2823)Cca>Tca	p.P941S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	941	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P941S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGACGGCCCAGCTGGCCC	0.577																																							uc004cfe.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2821-2823)CCA>TCA		alpha 1 type V collagen preproprotein							81.0	85.0	84.0					9																	137688241		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137688241C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2821C>T	9.37:g.137688241C>T	ENSP00000360882:p.Pro941Ser						p.P941S	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	35	3203	+		Myeloproliferative disorder(178;0.0341)	941			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2821C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463504	0.63513	.	.	ENSG00000130635	ENST00000371817	D	0.96802	-4.13	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	D	0.97192	0.9082	L	0.52126	1.63	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	D	0.97587	1.0114	10	0.51188	T	0.08	.	17.1987	0.86900	0.0:1.0:0.0:0.0	.	941	P20908	CO5A1_HUMAN	S	941	ENSP00000360882:P941S	ENSP00000360882:P941S	P	+	1	0	COL5A1	136828062	1.000000	0.71417	0.984000	0.44739	0.419000	0.31324	6.738000	0.74822	2.048000	0.60808	0.297000	0.19635	CCA		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		33	54	0	0	0	0.012213	0	33	54				
ARRDC1	92714	broad.mit.edu	37	9	140508500	140508500	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:140508500C>G	ENST00000371421.4	+	5	516	c.452C>G	c.(451-453)tCt>tGt	p.S151C	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	151						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S151C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACGTGGCCTCTGCCACCAAG	0.652																																							uc004cns.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(451-453)TCT>TGT		arrestin domain containing 1							72.0	74.0	73.0					9																	140508500		2203	4300	6503	SO:0001583	missense	92714							g.chr9:140508500C>G	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.452C>G	9.37:g.140508500C>G	ENSP00000360475:p.Ser151Cys					ARRDC1_uc004cnt.2_Missense_Mutation_p.S26C|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.S131C|ARRDC1_uc004cnw.2_Missense_Mutation_p.S26C|ARRDC1_uc004cnp.1_Missense_Mutation_p.S151C|ARRDC1_uc004cnq.1_Missense_Mutation_p.S133C|ARRDC1_uc011mfb.1_Missense_Mutation_p.S26C|ARRDC1_uc004cnx.1_Missense_Mutation_p.S26C|ARRDC1_uc004cny.2_RNA	p.S151C	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	5	526	+	all_cancers(76;0.106)		151						Missense_Mutation	SNP	ENST00000371421.4	37	c.452C>G	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158132	0.78114	.	.	ENSG00000197070	ENST00000371421;ENST00000431925	T;T	0.51325	3.21;0.71	5.65	5.65	0.86999	Immunoglobulin E-set (1);	0.297349	0.37906	N	0.001886	T	0.67211	0.2869	M	0.66939	2.045	0.38667	D	0.952213	D;D;D	0.76494	0.999;0.995;0.998	D;P;P	0.64687	0.928;0.797;0.784	T	0.71148	-0.4677	10	0.72032	D	0.01	-18.0802	18.7737	0.91901	0.0:1.0:0.0:0.0	.	40;168;151	Q59FD7;Q5T371;Q8N5I2	.;.;ARRD1_HUMAN	C	151;168	ENSP00000360475:S151C;ENSP00000406247:S168C	ENSP00000360475:S151C	S	+	2	0	ARRDC1	139628321	0.868000	0.29978	0.998000	0.56505	0.979000	0.70002	2.134000	0.42102	2.684000	0.91462	0.555000	0.69702	TCT		0.652	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		25	80	0	0	0	0.003954	0	25	80				
SLC25A6	293	broad.mit.edu	37	X	1508207	1508207	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:1508207C>G	ENST00000381401.5	-	2	1239	c.525G>C	c.(523-525)caG>caC	p.Q175H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	175					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)	p.Q175H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CACTGAAGCCCTGGTACAGGC	0.632																																							uc004cpt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(523-525)CAG>CAC		adenine nucleotide translocator 3	Clodronate(DB00720)						115.0	118.0	117.0					X																	1508207		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508207C>G	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.525G>C	X.37:g.1508207C>G	ENSP00000370808:p.Gln175His					SLC25A6_uc004cpu.2_RNA	p.Q175H	NM_001636	NP_001627	P12236	ADT3_HUMAN			2	621	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	175			Solcar 2.		Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.525G>C	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	14.54	2.565984	0.45694	.	.	ENSG00000169100	ENST00000381401	T	0.79454	-1.27	1.85	0.925	0.19424	Mitochondrial carrier domain (2);	0.000000	0.53938	D	0.000055	T	0.74275	0.3695	M	0.61703	1.905	0.09310	N	1	D	0.55800	0.973	P	0.47981	0.563	T	0.66701	-0.5857	10	0.87932	D	0	.	6.8426	0.23971	0.0:0.6439:0.0:0.3561	.	175	P12236	ADT3_HUMAN	H	175	ENSP00000370808:Q175H	ENSP00000370808:Q175H	Q	-	3	2	SLC25A6	1468207	1.000000	0.71417	0.979000	0.43373	0.750000	0.42670	1.287000	0.33284	0.982000	0.38575	0.402000	0.26972	CAG		0.632	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		34	121	0	0	0	0.012213	0	34	121				
SLC25A6	293	broad.mit.edu	37	X	1508329	1508329	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:1508329C>G	ENST00000381401.5	-	2	1117	c.403G>C	c.(403-405)Gat>Cat	p.D135H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	135					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)	p.D135H(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTGGCGAAATCCAGCGGGTAC	0.657																																							uc004cpt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(403-405)GAT>CAT		adenine nucleotide translocator 3	Clodronate(DB00720)	C	HIS/ASP	0,4406		0,0,2203	111.0	120.0	117.0		403	1.9	0.7	X	dbSNP_134	117	1,8591		0,1,4295	no	missense	SLC25A6	NM_001636.3	81	0,1,6498	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	135/299	1508329	1,12997	2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508329C>G	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.403G>C	X.37:g.1508329C>G	ENSP00000370808:p.Asp135His					SLC25A6_uc004cpu.2_RNA	p.D135H	NM_001636	NP_001627	P12236	ADT3_HUMAN			2	499	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	135			Solcar 2.|Helical; Name=3; (By similarity).		Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.403G>C	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	17.20	3.329698	0.60743	0.0	1.16E-4	ENSG00000169100	ENST00000381401;ENST00000447786	D	0.84589	-1.87	1.85	1.85	0.25348	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000026	D	0.94686	0.8286	H	0.98612	4.28	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	D	0.87485	0.2423	10	0.87932	D	0	.	12.0543	0.53524	0.0:1.0:0.0:0.0	.	135	P12236	ADT3_HUMAN	H	135	ENSP00000370808:D135H	ENSP00000370808:D135H	D	-	1	0	SLC25A6	1468329	1.000000	0.71417	0.718000	0.30602	0.778000	0.44026	5.896000	0.69822	0.982000	0.38575	0.402000	0.26972	GAT		0.657	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		29	132	0	0	0	0.010818	0	29	132				
DHRSX	207063	broad.mit.edu	37	X	2209550	2209550	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:2209550G>A	ENST00000334651.5	-	4	433	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	127							oxidoreductase activity (GO:0016491)	p.I127I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACCATTGTTGATCAGGACAT	0.443																																							uc004cqf.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(379-381)ATC>ATT		dehydrogenase/reductase (SDR family) X-linked							229.0	215.0	220.0					X																	2209550		2203	4296	6499	SO:0001819	synonymous_variant	207063						binding|oxidoreductase activity	g.chrX:2209550G>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.381C>T	X.37:g.2209550G>A							p.I127I	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			4	430	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	127					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	37	c.381C>T	CCDS35195.1																																																																																				0.443	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		14	47	0	0	0	0.00245	0	14	47				
ASB9	140462	broad.mit.edu	37	X	15268584	15268584	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:15268584T>C	ENST00000380488.4	-	5	809	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	ASB9_ENST00000546332.1_Missense_Mutation_p.Q179R|ASB9_ENST00000380483.3_Missense_Mutation_p.Q169R|ASB9_ENST00000380485.3_Missense_Mutation_p.Q179R|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	179					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.Q179R(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ACAGGCTCTCTGTTGGTTTTC	0.403																																							uc004cwl.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(535-537)CAG>CGG		ankyrin repeat and SOCS box-containing 9 isoform							87.0	84.0	85.0					X																	15268584		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15268584T>C	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.536A>G	X.37:g.15268584T>C	ENSP00000369855:p.Gln179Arg					ASB9_uc004cwk.2_Missense_Mutation_p.Q179R|ASB9_uc004cwm.2_Missense_Mutation_p.Q169R|ASB9_uc010ner.2_Missense_Mutation_p.Q179R|ASB9_uc004cwn.2_Missense_Mutation_p.Q150R	p.Q179R	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			5	783	-	Hepatocellular(33;0.183)		179			ANK 5.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.536A>G	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	T	4.105	0.017536	0.07959	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.64260	-0.09;-0.04;-0.04;-0.04	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.224272	0.47455	D	0.000228	T	0.35451	0.0932	N	0.04116	-0.275	0.29981	N	0.817728	B;B;B;B	0.29671	0.254;0.001;0.003;0.008	B;B;B;B	0.26693	0.072;0.005;0.019;0.005	T	0.32851	-0.9891	10	0.21014	T	0.42	-7.2756	8.8316	0.35087	0.0:0.0837:0.0:0.9163	.	150;169;179;179	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	R	169;179;179;179	ENSP00000369850:Q169R;ENSP00000369852:Q179R;ENSP00000369855:Q179R;ENSP00000438943:Q179R	ENSP00000369850:Q169R	Q	-	2	0	ASB9	15178505	0.994000	0.37717	0.042000	0.18584	0.180000	0.23129	2.482000	0.45224	1.949000	0.56562	0.430000	0.28490	CAG		0.403	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			17	48	0	0	0	0.007413	0	17	48				
MAGEB6	158809	broad.mit.edu	37	X	26212971	26212971	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:26212971G>T	ENST00000379034.1	+	2	1157	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	336	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L336F(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTGAAGATTTGGTGCAAGATA	0.498																																							uc004dbr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1006-1008)TTG>TTT		melanoma antigen family B, 6							125.0	122.0	123.0					X																	26212971		2201	4281	6482	SO:0001583	missense	158809							g.chrX:26212971G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1008G>T	X.37:g.26212971G>T	ENSP00000368320:p.Leu336Phe					MAGEB6_uc010ngc.1_Missense_Mutation_p.L116F	p.L336F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1157	+			336			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1008G>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948864	0.34377	.	.	ENSG00000176746	ENST00000379034	T	0.09350	2.99	3.29	-1.93	0.07594	.	0.283458	0.33854	N	0.004495	T	0.15392	0.0371	L	0.52126	1.63	0.09310	N	1	P	0.50617	0.937	P	0.61940	0.896	T	0.14090	-1.0485	10	0.27082	T	0.32	.	4.0649	0.09856	0.3419:0.335:0.3231:0.0	.	336	Q8N7X4	MAGB6_HUMAN	F	336	ENSP00000368320:L336F	ENSP00000368320:L336F	L	+	3	2	MAGEB6	26122892	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	-2.072000	0.01377	-0.679000	0.05217	0.594000	0.82650	TTG		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		27	90	1	0	6.00712e-18	0.012213	8.01686e-18	27	90				
FTHL17	53940	broad.mit.edu	37	X	31089993	31089993	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:31089993C>T	ENST00000359202.3	-	1	177	c.78G>A	c.(76-78)acG>acA	p.T26T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.T26T(4)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGAGCTCCAGCGTGATGTGGC	0.627																																							uc004dcl.1		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(76-78)ACG>ACA		ferritin, heavy polypeptide-like 17							74.0	64.0	68.0					X																	31089993		2202	4296	6498	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089993C>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.78G>A	X.37:g.31089993C>T							p.T26T	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	181	-			26			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.78G>A	CCDS14227.1																																																																																				0.627	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		19	51	0	0	0	0.007413	0	19	51				
DUSP21	63904	broad.mit.edu	37	X	44703735	44703735	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:44703735G>A	ENST00000339042.4	+	1	487	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	119	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A119A(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGTGCCTTGCGTACCTCATGA	0.587																																							uc004dgd.2		NA																	3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	large_intestine(1)|lung(1)	2						c.(355-357)GCG>GCA		dual specificity phosphatase 21							105.0	78.0	87.0					X																	44703735		2203	4300	6503	SO:0001819	synonymous_variant	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703735G>A	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.357G>A	X.37:g.44703735G>A							p.A119A	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	487	+			119			Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).		Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	c.357G>A	CCDS14264.1																																																																																				0.587	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		16	47	0	0	0	0.00499	0	16	47				
PQBP1	10084	broad.mit.edu	37	X	48758546	48758546	+	Silent	SNP	A	A	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:48758546A>C	ENST00000376563.1	+	3	347	c.147A>C	c.(145-147)ccA>ccC	p.P49P	PQBP1_ENST00000376548.5_Silent_p.P49P|PQBP1_ENST00000396763.1_Silent_p.P49P|PQBP1_ENST00000247140.4_Silent_p.P49P|PQBP1_ENST00000447146.2_Silent_p.P49P|PQBP1_ENST00000218224.4_Silent_p.P49P|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376566.4_Silent_p.P49P	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	49	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)	p.P49P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						AGGGCCTACCACCAAGCTGGT	0.557																																							uc004dle.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(145-147)CCA>CCC		polyglutamine binding protein 1							95.0	48.0	64.0					X																	48758546		2203	4300	6503	SO:0001819	synonymous_variant	10084				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	g.chrX:48758546A>C	AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.147A>C	X.37:g.48758546A>C						PQBP1_uc004dlf.2_Silent_p.P49P|PQBP1_uc004dlg.2_Silent_p.P49P|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Silent_p.P49P|PQBP1_uc004dli.2_Silent_p.P49P|PQBP1_uc004dlj.1_Silent_p.P49P|PQBP1_uc004dln.2_Silent_p.P49P|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_5'UTR|PQBP1_uc004dlk.2_Silent_p.P49P|PQBP1_uc004dll.2_Missense_Mutation_p.H17P|PQBP1_uc004dlm.2_5'UTR|PQBP1_uc010nij.2_Silent_p.P49P	p.P49P	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN			3	336	+			49			WW.		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Silent	SNP	ENST00000376563.1	37	c.147A>C	CCDS14309.1	.	.	.	.	.	.	.	.	.	.	A	5.323	0.244876	0.10077	.	.	ENSG00000102103	ENST00000456306	.	.	.	5.2	0.00468	0.14059	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-15.8248	0.0703	0.00021	0.3046:0.1663:0.2012:0.3278	.	.	.	.	P	38	.	.	H	+	2	0	PQBP1	48643490	0.144000	0.22641	0.998000	0.56505	0.419000	0.31324	-0.675000	0.05227	-0.016000	0.14127	-1.293000	0.01348	CAC		0.557	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060777.1	NM_001032381.1		4	7	0	0	0	0.009096	0	4	7				
PHKA1	5255	broad.mit.edu	37	X	71800926	71800926	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:71800926T>C	ENST00000373542.4	-	32	3757	c.3598A>G	c.(3598-3600)Atg>Gtg	p.M1200V	PHKA1_ENST00000541944.1_Missense_Mutation_p.M1128V|PHKA1_ENST00000373539.3_Missense_Mutation_p.M1217V|PHKA1_ENST00000339490.3_Missense_Mutation_p.M1187V|PHKA1_ENST00000373545.3_Missense_Mutation_p.M1158V	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1200					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.M1200V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGTAGGTCATGGTGCCAAAC	0.562																																							uc004eax.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(3598-3600)ATG>GTG		phosphorylase kinase, alpha 1 (muscle) isoform							95.0	73.0	80.0					X																	71800926		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71800926T>C		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3598A>G	X.37:g.71800926T>C	ENSP00000362643:p.Met1200Val					PHKA1_uc004eay.3_Missense_Mutation_p.M1187V|PHKA1_uc011mqi.1_Missense_Mutation_p.M1128V|PHKA1_uc010nll.2_Missense_Mutation_p.M232V	p.M1200V	NM_002637	NP_002628	P46020	KPB1_HUMAN			32	3899	-	Renal(35;0.156)		1200					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3598A>G	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106090	0.77096	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43	4.96	4.96	0.65561	.	0.040904	0.85682	D	0.000000	D	0.97105	0.9054	M	0.87758	2.905	0.52099	D	0.999943	D;D;D;D	0.71674	0.975;0.97;0.968;0.998	D;P;D;D	0.77004	0.937;0.688;0.918;0.989	D	0.97007	0.9733	10	0.49607	T	0.09	-12.6917	11.5812	0.50891	0.0:0.0:0.0:1.0	.	1128;1158;1187;1200	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	V	1158;1200;1128;1187;1217	ENSP00000362646:M1158V;ENSP00000362643:M1200V;ENSP00000441251:M1128V;ENSP00000342469:M1187V;ENSP00000362640:M1217V	ENSP00000342469:M1187V	M	-	1	0	PHKA1	71717651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.608000	0.82898	1.634000	0.50500	0.437000	0.28790	ATG		0.562	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			5	15	0	0	0	0.001168	0	5	15				
MAGEE2	139599	broad.mit.edu	37	X	75003878	75003878	+	Missense_Mutation	SNP	G	G	T	rs374021537		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:75003878G>T	ENST00000373359.2	-	1	1201	c.1009C>A	c.(1009-1011)Cta>Ata	p.L337I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	337	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L337I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGCCAATAGCTCATCCTGA	0.418																																							uc004ecj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1009-1011)CTA>ATA		melanoma antigen family E, 2							92.0	78.0	83.0					X																	75003878		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75003878G>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1009C>A	X.37:g.75003878G>T	ENSP00000362457:p.Leu337Ile						p.L337I	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1194	-			337			MAGE 2.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.1009C>A	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	7.516	0.655635	0.14580	.	.	ENSG00000186675	ENST00000373359	T	0.04015	3.73	2.76	1.89	0.25635	.	.	.	.	.	T	0.06005	0.0156	N	0.05574	-0.02	0.24677	N	0.993385	D	0.69078	0.997	D	0.76071	0.987	T	0.43114	-0.9411	9	0.22109	T	0.4	.	4.8423	0.13496	0.1793:0.0:0.8207:0.0	.	337	Q8TD90	MAGE2_HUMAN	I	337	ENSP00000362457:L337I	ENSP00000362457:L337I	L	-	1	2	MAGEE2	74920603	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	1.339000	0.33885	0.563000	0.29222	0.422000	0.28245	CTA		0.418	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		11	38	1	0	0.00829132	0.008291	0.00852017	11	38				
KLHL4	56062	broad.mit.edu	37	X	86868907	86868907	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:86868907G>C	ENST00000373119.4	+	2	595	c.450G>C	c.(448-450)atG>atC	p.M150I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M150I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	150						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.M150I(4)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTGAAGACATGAATGCCACCA	0.338																																							uc004efb.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(448-450)ATG>ATC		kelch-like 4 isoform 1							90.0	77.0	82.0					X																	86868907		2203	4299	6502	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86868907G>C	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.450G>C	X.37:g.86868907G>C	ENSP00000362211:p.Met150Ile					KLHL4_uc004efa.2_Missense_Mutation_p.M150I	p.M150I	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			2	632	+			150					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.450G>C	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	9.334	1.061255	0.19987	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.73575	-0.76;-0.73	4.88	4.0	0.46444	.	0.806755	0.11886	N	0.520039	T	0.71896	0.3394	M	0.67953	2.075	0.53688	D	0.999975	B;B	0.18741	0.009;0.03	B;B	0.17979	0.004;0.02	T	0.62324	-0.6878	10	0.25751	T	0.34	.	12.2569	0.54629	0.0:0.0:0.8285:0.1715	.	150;150	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	150	ENSP00000362211:M150I;ENSP00000362206:M150I	ENSP00000362206:M150I	M	+	3	0	KLHL4	86755563	1.000000	0.71417	0.769000	0.31535	0.025000	0.11179	7.384000	0.79751	0.801000	0.34066	0.415000	0.27848	ATG		0.338	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			5	9	0	0	0	0.001168	0	5	9				
NAP1L3	4675	broad.mit.edu	37	X	92927019	92927019	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:92927019T>C	ENST00000373079.3	-	1	1548	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.I422V	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	429					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.I429V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTGGCTGGATTTCAATTTCT	0.433																																							uc004efq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1285-1287)ATC>GTC		nucleosome assembly protein 1-like 3							77.0	57.0	64.0					X																	92927019		2202	4300	6502	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927019T>C		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1285A>G	X.37:g.92927019T>C	ENSP00000362171:p.Ile429Val					FAM133A_uc004efr.1_5'Flank	p.I429V	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1590	-			429					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1285A>G	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	1.648	-0.514693	0.04200	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.23950	1.88	3.36	-0.428	0.12306	.	0.404445	0.28209	N	0.016181	T	0.07908	0.0198	N	0.04063	-0.285	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.25222	-1.0138	10	0.18276	T	0.48	.	2.8862	0.05662	0.1933:0.2499:0.0:0.5568	.	429	Q99457	NP1L3_HUMAN	V	429;422	ENSP00000362171:I429V	ENSP00000362171:I429V	I	-	1	0	NAP1L3	92813675	1.000000	0.71417	0.010000	0.14722	0.992000	0.81027	2.830000	0.48136	-0.182000	0.10602	0.393000	0.25936	ATC		0.433	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		4	2	0	0	0	0.009096	0	4	2				
DIAPH2	1730	broad.mit.edu	37	X	96220166	96220166	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:96220166C>T	ENST00000324765.8	+	17	2357	c.2010C>T	c.(2008-2010)ctC>ctT	p.L670L	DIAPH2_ENST00000373054.4_Silent_p.L666L|DIAPH2_ENST00000355827.4_Silent_p.L670L|DIAPH2_ENST00000373061.3_Silent_p.L670L|DIAPH2_ENST00000373049.4_Silent_p.L670L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	670	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.L670L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATCCAGATCTCTTTGCCAAAT	0.303																																							uc004efu.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(2008-2010)CTC>CTT		diaphanous 2 isoform 156							42.0	37.0	38.0					X																	96220166		2203	4294	6497	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96220166C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2010C>T	X.37:g.96220166C>T						DIAPH2_uc004eft.3_Silent_p.L670L	p.L670L	NM_006729	NP_006720	O60879	DIAP2_HUMAN			17	2406	+			670			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.2010C>T	CCDS14467.1																																																																																				0.303	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		3	6	0	0	0	0.009096	0	3	6				
SLC25A53	401612	broad.mit.edu	37	X	103349497	103349497	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:103349497T>G	ENST00000357421.4	-	2	624	c.444A>C	c.(442-444)caA>caC	p.Q148H		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	148					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Q148H(2)									GGAAGCGAGCTTGCTTGCGAC	0.587																																							uc004elu.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(442-444)CAA>CAC		mitochondrial carrier triple repeat 6							99.0	106.0	104.0					X																	103349497		2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349497T>G		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.444A>C	X.37:g.103349497T>G	ENSP00000361681:p.Gln148His						p.Q148H	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN			2	625	-			148			Solcar 2.		B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.444A>C	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	t	3.670	-0.067737	0.07228	.	.	ENSG00000176274	ENST00000357421	T	0.79352	-1.26	4.18	2.91	0.33838	Mitochondrial carrier domain (2);	0.198554	0.39759	N	0.001262	T	0.53334	0.1790	N	0.04994	-0.135	0.31934	N	0.611783	P	0.44309	0.832	B	0.42282	0.382	T	0.59375	-0.7466	10	0.38643	T	0.18	-18.4227	3.8906	0.09117	0.2115:0.0:0.215:0.5735	.	148	Q5H9E4	MCAR6_HUMAN	H	148	ENSP00000361681:Q148H	ENSP00000361681:Q148H	Q	-	3	2	MCART6	103236153	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.450000	0.44943	1.653000	0.50694	0.481000	0.45027	CAA		0.587	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		40	116	0	0	0	0.00623	0	40	116				
TBC1D8B	54885	broad.mit.edu	37	X	106084040	106084040	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:106084040G>A	ENST00000357242.5	+	10	1819	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D543N|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D549N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	549	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.D549N(4)		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						CTTTCAGAGTGATACTGGCAT	0.473																																							uc004emo.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1645-1647)GAT>AAT		TBC1 domain family, member 8B (with GRAM domain)							161.0	140.0	147.0					X																	106084040		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106084040G>A	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.1645G>A	X.37:g.106084040G>A	ENSP00000349781:p.Asp549Asn					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.D549N	p.D549N	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			10	1810	+			549			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1645G>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921055	0.92249	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.04119	3.7;3.7;3.7	5.48	5.48	0.80851	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.944	T	0.01795	-1.1272	10	0.54805	T	0.06	-15.3644	16.8504	0.85992	0.0:0.0:1.0:0.0	.	549;549	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	N	549;549;543	ENSP00000349781:D549N;ENSP00000310675:D549N;ENSP00000276175:D543N	ENSP00000276175:D543N	D	+	1	0	TBC1D8B	105970696	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	2.291000	0.77112	0.506000	0.49869	GAT		0.473	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		22	35	0	0	0	0.014323	0	22	35				
COL4A6	1288	broad.mit.edu	37	X	107554022	107554023	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:107554022_107554023CC>AA	ENST00000372216.4	-	3	202_203	c.102_103GG>TT	c.(100-105)caGGac>caTTac	p.34_35QD>HY	COL4A6_ENST00000394872.2_Missense_Mutation_p.33_34QD>HY|COL4A6_ENST00000334504.7_Missense_Mutation_p.33_34QD>HY|COL4A6_ENST00000538570.1_Missense_Mutation_p.33_34QD>HY|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000545689.1_Missense_Mutation_p.33_34QD>HY	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	34	7S domain.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.Q33_D34>HY(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCACTGCAGTCCTGGCCCCCAC	0.436									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(100-105)CAGGAC>CATTAC		type IV alpha 6 collagen isoform A precursor																																				SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107554022_107554023CC>AA	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.102_103delinsAA	X.37:g.107554022_107554023delinsAA	ENSP00000361290:p.Q34_D35delinsHY					COL4A6_uc004env.3_Missense_Mutation_p.33_34QD>HY|COL4A6_uc011msn.1_Missense_Mutation_p.33_34QD>HY|COL4A6_uc010npk.2_Missense_Mutation_p.33_34QD>HY|COL4A6_uc004enx.2_RNA|COL4A6_uc004eny.2_RNA	p.34_35QD>HY	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			3	205_206	-			34_35			7S domain.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	DNP	ENST00000372216.4	37	c.102_103GG>TT	CCDS14541.1																																																																																				0.436	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			10	45	0	0	0	0.004672	0	10	45				
HTR2C	3358	broad.mit.edu	37	X	113965884	113965884	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:113965884C>A	ENST00000276198.1	+	4	945	c.217C>A	c.(217-219)Ctt>Att	p.L73I	HTR2C_ENST00000371951.1_Missense_Mutation_p.L73I|HTR2C_ENST00000371950.3_Missense_Mutation_p.L73I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	73					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L73I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGCAACATCCTTGTGATCAT	0.443																																							uc004epu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(217-219)CTT>ATT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						212.0	163.0	180.0					X																	113965884		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965884C>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.217C>A	X.37:g.113965884C>A	ENSP00000276198:p.Leu73Ile					HTR2C_uc010nqc.1_Missense_Mutation_p.L73I|HTR2C_uc004epv.1_Missense_Mutation_p.L73I	p.L73I	NM_000868	NP_000859	P28335	5HT2C_HUMAN			4	945	+			73			Helical; Name=1; (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.217C>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906437	0.72868	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.77877	-1.13;-1.13;-1.13	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.89653	0.6777	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91383	0.5129	10	0.87932	D	0	.	15.3884	0.74723	0.0:1.0:0.0:0.0	.	73;73	B1AMW4;P28335	.;5HT2C_HUMAN	I	73	ENSP00000276198:L73I;ENSP00000361019:L73I;ENSP00000361018:L73I	ENSP00000276198:L73I	L	+	1	0	HTR2C	113872140	0.998000	0.40836	0.544000	0.28141	0.496000	0.33645	3.940000	0.56599	2.520000	0.84964	0.594000	0.82650	CTT		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		15	36	1	0	2.31682e-05	0.003163	2.54658e-05	15	36				
TENM1	10178	broad.mit.edu	37	X	123556156	123556156	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:123556156G>A	ENST00000371130.3	-	23	4479	c.4416C>T	c.(4414-4416)gaC>gaT	p.D1472D	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.D1479D	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1472					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D1474D(2)									CAATTTTGCAGTCACAGTCAG	0.448																																							uc004euj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4414-4416)GAC>GAT		odz, odd Oz/ten-m homolog 1 isoform 3							142.0	104.0	117.0					X																	123556156		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123556156G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4416C>T	X.37:g.123556156G>A						ODZ1_uc011muj.1_Silent_p.D1478D|ODZ1_uc010nqy.2_Silent_p.D1479D	p.D1472D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			23	4480	-			1472			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.4416C>T	CCDS14609.1																																																																																				0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		18	42	0	0	0	0.00499	0	18	42				
DCAF12L2	340578	broad.mit.edu	37	X	125298590	125298590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:125298590C>A	ENST00000360028.2	-	1	1344	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DCAF12L2_ENST00000538699.1_Nonsense_Mutation_p.E440*			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	440								p.E440*(4)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCTTCATCTCCGGCCAGTTG	0.577																																							uc004euk.1		NA																	4	Substitution - Nonsense(4)		lung(4)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1318-1320)GAG>TAG		DDB1 and CUL4 associated factor 12-like 2							98.0	101.0	100.0					X																	125298590		2203	4300	6503	SO:0001587	stop_gained	340578							g.chrX:125298590C>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1318G>T	X.37:g.125298590C>A	ENSP00000353128:p.Glu440*						p.E440*	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1345	-			440					B2RN42	Nonsense_Mutation	SNP	ENST00000360028.2	37	c.1318G>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478401	0.96291	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	.	.	.	3.93	3.93	0.45458	.	0.211850	0.23916	N	0.043300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	12.9304	0.58284	0.0:1.0:0.0:0.0	.	.	.	.	X	440	.	ENSP00000353128:E440X	E	-	1	0	DCAF12L2	125126271	1.000000	0.71417	0.929000	0.37066	0.912000	0.54170	6.814000	0.75236	2.209000	0.71365	0.600000	0.82982	GAG		0.577	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		34	86	1	0	6.53348e-20	0.003755	8.80836e-20	34	86				
FHL1	2273	broad.mit.edu	37	X	135288688	135288688	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:135288688G>C	ENST00000345434.3	+	2	178	c.97G>C	c.(97-99)Gac>Cac	p.D33H	FHL1_ENST00000543669.1_Missense_Mutation_p.D33H|FHL1_ENST00000394153.2_Missense_Mutation_p.D33H|FHL1_ENST00000539015.1_Missense_Mutation_p.D62H|FHL1_ENST00000370690.3_Missense_Mutation_p.D33H|FHL1_ENST00000370683.1_Missense_Mutation_p.D49H|FHL1_ENST00000370676.3_Missense_Mutation_p.D49H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394155.2_Missense_Mutation_p.D33H|FHL1_ENST00000535737.1_Missense_Mutation_p.D33H			Q13642	FHL1_HUMAN	four and a half LIM domains 1	33					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)	p.D33H(4)|p.D62H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GAAATGCTTTGACAAGTTCTG	0.557																																							uc004ezo.2		NA																	6	Substitution - Missense(6)		lung(6)		0						c.(97-99)GAC>CAC		four and a half LIM domains 1 isoform 1							210.0	184.0	192.0					X																	135288688		2203	4300	6503	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288688G>C	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.97G>C	X.37:g.135288688G>C	ENSP00000071281:p.Asp33His					FHL1_uc010nrz.2_Missense_Mutation_p.D33H|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.D33H|FHL1_uc004ezq.2_Missense_Mutation_p.D33H|FHL1_uc011mvy.1_Missense_Mutation_p.D33H|FHL1_uc011mvz.1_Missense_Mutation_p.D33H|FHL1_uc004ezn.2_Missense_Mutation_p.D33H|FHL1_uc011mwa.1_Missense_Mutation_p.D62H|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.D49H|FHL1_uc004ezr.2_5'Flank	p.D33H	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN			2	197	+	Acute lymphoblastic leukemia(192;0.000127)		33					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.97G>C	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129129	0.77549	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.46	4.6	0.57074	Zinc finger, LIM-type (1);	0.193674	0.52532	D	0.000073	D	0.93190	0.7831	M	0.90425	3.115	0.45914	D	0.998754	D;D;D;D	0.61080	0.961;0.989;0.989;0.978	P;P;P;P	0.60345	0.853;0.853;0.841;0.873	D	0.93043	0.6459	10	0.45353	T	0.12	.	13.1183	0.59311	0.0789:0.0:0.9211:0.0	.	62;49;49;33	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	H	33;33;13;33;33;33;33;33;33;33;33;73;33;33;62;49;49;49;33	ENSP00000377710:D33H;ENSP00000359724:D33H;ENSP00000391779:D33H;ENSP00000389920:D33H;ENSP00000444815:D33H;ENSP00000408038:D33H;ENSP00000413798:D33H;ENSP00000443333:D33H;ENSP00000377709:D33H;ENSP00000412642:D33H;ENSP00000414604:D33H;ENSP00000071281:D33H;ENSP00000437673:D62H;ENSP00000359717:D49H;ENSP00000359710:D49H;ENSP00000359708:D33H	ENSP00000071281:D33H	D	+	1	0	FHL1	135116354	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.633000	0.74286	1.064000	0.40671	0.600000	0.82982	GAC		0.557	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		62	135	0	0	0	0.01441	0	62	135				
GPR112	139378	broad.mit.edu	37	X	135431523	135431523	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:135431523C>T	ENST00000394143.1	+	6	5949	c.5658C>T	c.(5656-5658)ccC>ccT	p.P1886P	GPR112_ENST00000394141.1_Silent_p.P1681P|GPR112_ENST00000370652.1_Silent_p.P1886P|GPR112_ENST00000287534.4_Silent_p.P1823P|GPR112_ENST00000412101.1_Silent_p.P1681P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1886					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P1886P(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAACATACCCACAGCTGAAG	0.443																																							uc004ezu.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5656-5658)CCC>CCT		G-protein coupled receptor 112							127.0	121.0	123.0					X																	135431523		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431523C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5658C>T	X.37:g.135431523C>T						GPR112_uc010nsb.1_Silent_p.P1681P|GPR112_uc010nsc.1_Silent_p.P1653P	p.P1886P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5949	+	Acute lymphoblastic leukemia(192;0.000127)		1886			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.5658C>T	CCDS35409.1																																																																																				0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			22	48	0	0	0	0.012319	0	22	48				
ZIC3	7547	broad.mit.edu	37	X	136649681	136649681	+	Silent	SNP	G	G	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:136649681G>A	ENST00000287538.5	+	1	1381	c.831G>A	c.(829-831)gaG>gaA	p.E277E	ZIC3_ENST00000370606.3_Silent_p.E277E	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	277					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E277E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCATGCATGAGCTGGTGACAC	0.617																																							uc004fak.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(829-831)GAG>GAA		zinc finger protein of the cerebellum 3							53.0	52.0	53.0					X																	136649681		2203	4300	6503	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649681G>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.831G>A	X.37:g.136649681G>A							p.E277E	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1336	+	Acute lymphoblastic leukemia(192;0.000127)		277			C2H2-type 1; atypical.		B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.831G>A	CCDS14663.1																																																																																				0.617	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			23	69	0	0	0	0.014323	0	23	69				
MAGEC1	9947	broad.mit.edu	37	X	140995104	140995104	+	Silent	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:140995104C>A	ENST00000285879.4	+	4	2200	c.1914C>A	c.(1912-1914)tcC>tcA	p.S638S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	638								p.S638S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTCCATCCAGTCTTCCCC	0.567										HNSCC(15;0.026)																													uc004fbt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1912-1914)TCC>TCA		melanoma antigen family C, 1							180.0	192.0	188.0					X																	140995104		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995104C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1914C>A	X.37:g.140995104C>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S638S	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2200	+	Acute lymphoblastic leukemia(192;6.56e-05)		638					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1914C>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		76	182	1	0	3.4779e-39	0.01441	4.87914e-39	76	182				
SLITRK4	139065	broad.mit.edu	37	X	142716437	142716438	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:142716437_142716438CC>GA	ENST00000381779.4	-	2	2712_2713	c.2487_2488GG>TC	c.(2485-2490)gaGGag>gaTCag	p.829_830EE>DQ	SLITRK4_ENST00000356928.1_Missense_Mutation_p.829_830EE>DQ|SLITRK4_ENST00000338017.4_Missense_Mutation_p.829_830EE>DQ	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	829						integral component of membrane (GO:0016021)		p.E829_E830>DQ(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGTTTGCTCCTCAAGGACCT	0.401																																							uc004fbx.2		NA																	1	Complex - compound substitution(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(2485-2490)GAGGAG>GATCAG		slit and trk like 4 protein precursor																																				SO:0001583	missense	139065					integral to membrane		g.chrX:142716437_142716438CC>GA	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2487_2488delinsGA	X.37:g.142716437_142716438delinsGA	ENSP00000371198:p.E829_E830delinsDQ					SLITRK4_uc004fby.2_Missense_Mutation_p.829_830EE>DQ	p.829_830EE>DQ	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2863_2864	-	Acute lymphoblastic leukemia(192;6.56e-05)		829_830			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	DNP	ENST00000381779.4	37	c.2487_2488GG>TC	CCDS14679.1																																																																																				0.401	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		7	38	0	0	0	0.004672	0	7	38				
MAGEA11	4110	broad.mit.edu	37	X	148797297	148797297	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:148797297A>T	ENST00000355220.5	+	4	328	c.226A>T	c.(226-228)Agt>Tgt	p.S76C	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S47C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S76C(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGGACAGGAGTCCCAGGAG	0.502																																							uc004fdq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(226-228)AGT>TGT		melanoma antigen family A, 11 isoform a							128.0	120.0	123.0					X																	148797297		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797297A>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.226A>T	X.37:g.148797297A>T	ENSP00000347358:p.Ser76Cys					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.S47C	p.S76C	NM_005366	NP_005357	P43364	MAGAB_HUMAN			4	328	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		76					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.226A>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	7.028	0.560022	0.13498	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03272	3.99;4.34;4.31	0.88	-0.384	0.12474	.	.	.	.	.	T	0.02929	0.0087	N	0.14661	0.345	0.09310	N	1	D;D	0.65815	0.995;0.991	P;B	0.46758	0.526;0.326	T	0.45804	-0.9236	8	0.56958	D	0.05	.	.	.	.	.	47;76	G5E962;P43364	.;MAGAB_HUMAN	C	47;47;76	ENSP00000391496:S47C;ENSP00000328177:S47C;ENSP00000347358:S76C	ENSP00000328177:S47C	S	+	1	0	MAGEA11	148577108	0.001000	0.12720	0.004000	0.12327	0.035000	0.12851	0.039000	0.13884	-0.194000	0.10399	0.356000	0.21956	AGT		0.502	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		36	65	0	0	0	0.003755	0	36	65				
CD99L2	83692	broad.mit.edu	37	X	149999767	149999767	+	Splice_Site	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:149999767C>A	ENST00000370377.3	-	2	185		c.e2-1		CD99L2_ENST00000320893.6_Splice_Site|CD99L2_ENST00000437787.2_Splice_Site|CD99L2_ENST00000355149.3_Splice_Site|CD99L2_ENST00000346693.4_Splice_Site|CD99L2_ENST00000466436.1_Splice_Site	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(4)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGATCCtaaaaattaa	0.289																																							uc004fel.2		NA																	4	Unknown(4)		lung(4)	large_intestine(2)|ovary(1)	3						c.e2-1		CD99 antigen-like 2 isoform E3'-E4'-E3-E4							56.0	55.0	56.0					X																	149999767		2202	4298	6500	SO:0001630	splice_region_variant	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149999767C>A	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.68-1G>T	X.37:g.149999767C>A						CD99L2_uc004fem.2_Splice_Site_p.G23_splice|CD99L2_uc004fen.2_Splice_Site_p.G23_splice|CD99L2_uc004feo.2_Splice_Site|CD99L2_uc011myb.1_Splice_Site_p.G23_splice	p.G23_splice	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN			2	186	-	Acute lymphoblastic leukemia(192;6.56e-05)							A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Splice_Site	SNP	ENST00000370377.3	37	c.68_splice	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468607	0.43839	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000437787;ENST00000466436;ENST00000320893	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8374	0.52333	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD99L2	149750425	0.987000	0.35691	0.440000	0.26846	0.496000	0.33645	1.819000	0.39022	2.078000	0.62432	0.600000	0.82982	.		0.289	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462	Intron	14	29	1	0	4.36969e-10	0.001855	5.34523e-10	14	29				
CNGA2	1260	broad.mit.edu	37	X	150912332	150912332	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:150912332C>A	ENST00000329903.4	+	6	1390	c.1357C>A	c.(1357-1359)Cgc>Agc	p.R453S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	453					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R453S(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGAAAGTGCGCATCTTCCA	0.507																																							uc004fey.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(1357-1359)CGC>AGC		cyclic nucleotide gated channel alpha 2							86.0	81.0	83.0					X																	150912332		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912332C>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1357C>A	X.37:g.150912332C>A	ENSP00000328478:p.Arg453Ser						p.R453S	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1581	+	Acute lymphoblastic leukemia(192;6.56e-05)		453			Extracellular (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1357C>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845156	0.51164	.	.	ENSG00000183862	ENST00000329903	D	0.96365	-3.99	5.04	4.17	0.49024	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	L	0.36672	1.1	0.49483	D	0.999799	D	0.76494	0.999	D	0.63488	0.915	D	0.94971	0.8117	10	0.52906	T	0.07	.	10.5735	0.45214	0.0:0.9025:0.0:0.0975	.	453	Q16280	CNGA2_HUMAN	S	453	ENSP00000328478:R453S	ENSP00000328478:R453S	R	+	1	0	CNGA2	150662988	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	3.794000	0.55492	0.900000	0.36469	0.529000	0.55759	CGC		0.507	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		13	41	1	0	9.31168e-06	0.001855	1.04004e-05	13	41				
F8	2157	broad.mit.edu	37	X	154133184	154133184	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:154133184C>T	ENST00000360256.4	-	16	5688	c.5488G>A	c.(5488-5490)Gaa>Aaa	p.E1830K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1830	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.E1830K(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTGGTTTCATTAGGCTTG	0.418																																							uc004fmt.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(5488-5490)GAA>AAA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						177.0	148.0	158.0					X																	154133184		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154133184C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5488G>A	X.37:g.154133184C>T	ENSP00000353393:p.Glu1830Lys					F8_uc010nvi.1_5'UTR	p.E1830K	NM_000132	NP_000123	P00451	FA8_HUMAN			16	5659	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1830			F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5488G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634699	0.67130	.	.	ENSG00000185010	ENST00000360256	D	0.98120	-4.73	5.01	5.01	0.66863	Cupredoxin (2);	0.054397	0.64402	D	0.000001	D	0.97876	0.9302	L	0.53780	1.695	0.49687	D	0.999819	D	0.69078	0.997	P	0.61658	0.892	D	0.98570	1.0645	10	0.59425	D	0.04	-24.0391	16.2562	0.82517	0.0:1.0:0.0:0.0	.	1830	P00451	FA8_HUMAN	K	1830	ENSP00000353393:E1830K	ENSP00000353393:E1830K	E	-	1	0	F8	153786378	0.546000	0.26457	1.000000	0.80357	0.650000	0.38633	2.251000	0.43187	2.227000	0.72691	0.506000	0.49869	GAA		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			9	22	0	0	0	0.004482	0	9	22				
VAMP7	6845	broad.mit.edu	37	X	155171561	155171561	+	Silent	SNP	C	C	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:155171561C>T	ENST00000286448.6	+	8	774	c.609C>T	c.(607-609)atC>atT	p.I203I	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.H181Y|VAMP7_ENST00000460621.1_Silent_p.I162I	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	203					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.H181Y(1)|p.I203I(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCTATATCATTGTTTCAC	0.348																																							uc004fnr.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(607-609)ATC>ATT		vesicle-associated membrane protein 7 isoform 1							248.0	237.0	240.0					X																	155171561		2203	4296	6499	SO:0001819	synonymous_variant	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155171561C>T	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.609C>T	X.37:g.155171561C>T						VAMP7_uc004fnt.2_Silent_p.I162I|VAMP7_uc011naa.1_Silent_p.I164I|VAMP7_uc011nab.1_Silent_p.I102I|VAMP7_uc004fns.2_Missense_Mutation_p.H181Y|VAMP7_uc011nac.1_Silent_p.I136I	p.I203I	NM_005638	NP_005629	P51809	VAMP7_HUMAN			8	783	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		203			Helical; Anchor for type IV membrane protein; (Potential).		Q53GY7|Q7Z409|Q9H4A7	Silent	SNP	ENST00000286448.6	37	c.609C>T	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	C	6.011	0.370400	0.11352	.	.	ENSG00000124333	ENST00000262640	T	0.19250	2.16	3.12	1.08	0.20341	.	1.183180	0.05907	N	0.631080	T	0.09069	0.0224	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	9	0.07990	T	0.79	.	4.6612	0.12643	0.0:0.4739:0.0:0.5261	.	181	P51809-2	.	Y	181	ENSP00000262640:H181Y	ENSP00000262640:H181Y	H	+	1	0	VAMP7	154824755	0.952000	0.32445	0.994000	0.49952	0.594000	0.36715	-0.104000	0.10923	0.418000	0.25898	0.279000	0.19357	CAT		0.348	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		7	26	0	0	0	0.001984	0	7	26				
ARID1A	8289	broad.mit.edu	37	1	27097629	27097629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:27097629delG	ENST00000324856.7	+	12	3589	c.3218delG	c.(3217-3219)tggfs	p.W1073fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.W1073fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.W690fs|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1073	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACAAAAAATGGCGGGAACTT	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3217-3219)TGGfs		AT rich interactive domain 1A isoform a							63.0	62.0	62.0					1																	27097629		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27097629delG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3218delG	1.37:g.27097629delG	ENSP00000320485:p.Trp1073fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.W1073fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.W1073fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.W690fs|ARID1A_uc001bmx.1_Translation_Start_Site|ARID1A_uc009vsm.1_5'Flank	p.W1073fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	12	3591	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1073	W->A: Partial loss of DNA-binding activity. Complete loss of activity; when associated with A-1096.		ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.3218delG	CCDS285.1																																																																																				0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		13	32	NA	NA	NA	NA	NA	13	32	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40777384	40777384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:40777384delC	ENST00000372748.3	-	9	517	c.421delG	c.(421-423)gacfs	p.D141fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	141	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D141N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGTCCAGGGTCCCCCTGGAAG	0.622																																							uc001cfh.1		NA																	1	Substitution - Missense(1)	p.D141N(1)	ovary(1)	ovary(2)	2						c.(421-423)GACfs		alpha 2 type IX collagen precursor							41.0	52.0	48.0					1																	40777384		2197	4294	6491	SO:0001589	frameshift_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40777384delC	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.421delG	1.37:g.40777384delC	ENSP00000361834:p.Asp141fs					COL9A2_uc001cfi.1_5'UTR	p.D141fs	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		9	491	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	141			Triple-helical region 4 (COL4).		B2RMP9	Frame_Shift_Del	DEL	ENST00000372748.3	37	c.421delG	CCDS450.1																																																																																				0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		51	65	NA	NA	NA	NA	NA	51	65	---	---	---	---
WLS	79971	broad.mit.edu	37	1	68624901	68624901	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:68624901delA	ENST00000262348.4	-	3	662	c.409delT	c.(409-411)tccfs	p.S137fs	WLS_ENST00000370976.3_Frame_Shift_Del_p.S46fs|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Frame_Shift_Del_p.S137fs|WLS_ENST00000354777.2_Frame_Shift_Del_p.S135fs|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	137	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TAAGCCAGGGAAACGTCCATG	0.438																																							uc001def.1		NA																	0					0						c.(409-411)TCCfs		G protein-coupled receptor 177 isoform 1							138.0	114.0	122.0					1																	68624901		2203	4300	6503	SO:0001589	frameshift_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68624901delA	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.409delT	1.37:g.68624901delA	ENSP00000262348:p.Ser137fs					uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Frame_Shift_Del_p.S135fs|WLS_uc001deg.1_Frame_Shift_Del_p.S46fs|WLS_uc009wbf.1_Frame_Shift_Del_p.S92fs	p.S137fs	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			3	680	-			137			Lumenal (Potential).|Interacts with Wnt proteins (By similarity).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Frame_Shift_Del	DEL	ENST00000262348.4	37	c.409delT	CCDS642.1																																																																																				0.438	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		14	62	NA	NA	NA	NA	NA	14	62	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86919069	86919070	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr1:86919069_86919070delGC	ENST00000370565.4	+	13	2335_2336	c.2173_2174delGC	c.(2173-2175)gctfs	p.A725fs	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	725					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCAGATGAATGCTCCAAGGAAA	0.436																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2173-2175)GCTfs		chloride channel accessory 2 precursor																																				SO:0001589	frameshift_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86919069_86919070delGC		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2173_2174delGC	1.37:g.86919069_86919070delGC	ENSP00000359596:p.Ala725fs						p.A725fs	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	13	2335_2336	+		Lung NSC(277;0.238)	725			Extracellular (Potential).		A8K2T3|Q9Y6N2	Frame_Shift_Del	DEL	ENST00000370565.4	37	c.2173_2174delGC	CCDS708.1																																																																																				0.436	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		9	38	NA	NA	NA	NA	NA	9	38	---	---	---	---
ZDHHC16	84287	broad.mit.edu	37	10	99212032	99212036	+	Frame_Shift_Del	DEL	CCCAC	CCCAC	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CCCAC	CCCAC	-	-	CCCAC	CCCAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:99212032_99212036delCCCAC	ENST00000370854.3	+	3	618_622	c.429_433delCCCAC	c.(427-435)tacccacccfs	p.PP144fs	ZDHHC16_ENST00000393760.1_Frame_Shift_Del_p.PP144fs|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000352634.4_Frame_Shift_Del_p.PP144fs|ZDHHC16_ENST00000370842.2_Frame_Shift_Del_p.PP144fs|ZDHHC16_ENST00000370846.4_Frame_Shift_Del_p.PP144fs|ZDHHC16_ENST00000353979.3_Frame_Shift_Del_p.PP144fs	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	144					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CGCCTGGGTACCCACCCCAGGTGGG	0.546																																							uc001knj.2		NA																	0				ovary(1)	1						c.(427-435)TACCCACCCfs		Abl-philin 2 isoform 1																																				SO:0001589	frameshift_variant	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99212032_99212036delCCCAC	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.429_433delCCCAC	10.37:g.99212032_99212036delCCCAC	ENSP00000359891:p.Pro144fs					ZDHHC16_uc001knp.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc001knk.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc001knl.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc010qow.1_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc009xvr.2_Frame_Shift_Del_p.Y143fs	p.Y143fs	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	4	778_782	+		Colorectal(252;0.0846)	143_145			Cytoplasmic (Potential).		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Frame_Shift_Del	DEL	ENST00000370854.3	37	c.429_433delCCCAC	CCDS7460.1																																																																																				0.546	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		11	106	NA	NA	NA	NA	NA	11	106	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102509593	102509593	+	Frame_Shift_Del	DEL	C	C	-	rs76675173		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr10:102509593delC	ENST00000428433.1	+	2	684	c.134delC	c.(133-135)gccfs	p.A45fs	PAX2_ENST00000355243.3_Frame_Shift_Del_p.A45fs|PAX2_ENST00000361791.3_Frame_Shift_Del_p.A45fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Frame_Shift_Del_p.A44fs|PAX2_ENST00000370296.2_Frame_Shift_Del_p.A45fs	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	45	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GTGGAGCTGGCCCACCAGGGT	0.687																																							uc001krk.3		NA																	0					0						c.(133-135)GCCfs		paired box protein 2 isoform e							27.0	30.0	29.0					10																	102509593		2202	4298	6500	SO:0001589	frameshift_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509593delC		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.134delC	10.37:g.102509593delC	ENSP00000396259:p.Ala45fs					PAX2_uc001krl.3_Frame_Shift_Del_p.A45fs|PAX2_uc001krm.3_Frame_Shift_Del_p.A45fs|PAX2_uc001kro.3_Frame_Shift_Del_p.A45fs|PAX2_uc001krn.3_Frame_Shift_Del_p.A45fs|PAX2_uc010qps.1_Frame_Shift_Del_p.A44fs|PAX2_uc001krp.1_Frame_Shift_Del_p.A49fs	p.A45fs	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	684	+		Colorectal(252;0.234)	45			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Del	DEL	ENST00000428433.1	37	c.134delC	CCDS53569.1																																																																																				0.687	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	69	NA	NA	NA	NA	NA	9	69	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5411244	5411244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:5411244delT	ENST00000328611.3	+	1	638	c.616delT	c.(616-618)ttcfs	p.F206fs	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	206					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATATCACCTTCAATAATCT	0.512																																							uc010qzc.1		NA																	0					0						c.(616-618)TTCfs		olfactory receptor, family 51, subfamily M,							143.0	137.0	139.0					11																	5411244		2021	4193	6214	SO:0001589	frameshift_variant	390059					integral to membrane	olfactory receptor activity	g.chr11:5411244delT	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.616delT	11.37:g.5411244delT	ENSP00000333196:p.Phe206fs					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.F206fs	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	616	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	206					Q6IF80	Frame_Shift_Del	DEL	ENST00000328611.3	37	c.616delT	CCDS53596.1																																																																																				0.512	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		18	89	NA	NA	NA	NA	NA	18	89	---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113235648	113235649	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113235648_113235649insA	ENST00000529221.1	+	21	2013_2014	c.1908_1909insA	c.(1909-1911)aacfs	p.N637fs	TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Frame_Shift_Ins_p.N637fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.N643fs	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	637										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGGAGGTGCCCAACGTTGCGTC	0.559																																							uc001pnu.2		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1906-1911)CCCAACfs		tetratricopeptide repeat domain 12																																				SO:0001589	frameshift_variant	54970						binding	g.chr11:113235648_113235649insA	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1910dupA	11.37:g.113235650_113235650dupA	ENSP00000433757:p.Asn637fs					TTC12_uc001pnv.2_Frame_Shift_Ins_p.P642fs|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Frame_Shift_Ins_p.P486fs	p.P636fs	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	21	2013_2014	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	636_637					Q8N5H9|Q9NWY3	Frame_Shift_Ins	INS	ENST00000529221.1	37	c.1908_1909insA	CCDS8360.2																																																																																				0.559	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		7	92	NA	NA	NA	NA	NA	7	92	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113860407	113860407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr11:113860407delA	ENST00000504030.2	+	9	1804	c.1359delA	c.(1357-1359)ctafs	p.L453fs	HTR3A_ENST00000535865.1_Frame_Shift_Del_p.L197fs|HTR3A_ENST00000355556.2_Frame_Shift_Del_p.L491fs|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.L485fs|HTR3A_ENST00000299961.5_Frame_Shift_Del_p.L438fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.L459fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	453					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	ACAAGCTGCTATTCCACATTT	0.592																																							uc010rxb.1		NA																	0					0						c.(1471-1473)CTAfs		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						93.0	83.0	87.0					11																	113860407		2201	4296	6497	SO:0001589	frameshift_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860407delA	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1359delA	11.37:g.113860407delA	ENSP00000424189:p.Leu453fs					HTR3A_uc010rxa.1_Frame_Shift_Del_p.L459fs|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Frame_Shift_Del_p.L438fs	p.L491fs	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1706	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	453			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Frame_Shift_Del	DEL	ENST00000504030.2	37	c.1473delA																																																																																					0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		25	118	NA	NA	NA	NA	NA	25	118	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20522956	20522956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:20522956delG	ENST00000359062.3	+	1	778	c.738delG	c.(736-738)gtgfs	p.V246fs	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	246					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGGCCGGCGTGCTGGGGATCC	0.607																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(736-738)GTGfs		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						36.0	41.0	39.0					12																	20522956		2203	4299	6502	SO:0001589	frameshift_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20522956delG		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.738delG	12.37:g.20522956delG	ENSP00000351957:p.Val246fs						p.V246fs	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			1	760	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	246			Helical; (Potential).		O60865|Q13348|Q17RD1	Frame_Shift_Del	DEL	ENST00000359062.3	37	c.738delG	CCDS31754.1																																																																																				0.607	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			15	53	NA	NA	NA	NA	NA	15	53	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945160	55945160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:55945160delC	ENST00000394256.2	+	1	178	c.150delC	c.(148-150)gacfs	p.D50fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTACTAGACCCCCACCTCC	0.418																																							uc010spp.1		NA																	0					0						c.(148-150)GACfs		olfactory receptor, family 6, subfamily C,							177.0	178.0	178.0					12																	55945160		2203	4300	6503	SO:0001589	frameshift_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945160delC	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.150delC	12.37:g.55945160delC	ENSP00000377799:p.Asp50fs						p.D50fs	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			1	150	+			50			Cytoplasmic (Potential).		A8MZG7|B2RNN2|Q6IFK1	Frame_Shift_Del	DEL	ENST00000394256.2	37	c.150delC	CCDS31827.1																																																																																				0.418	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			18	123	NA	NA	NA	NA	NA	18	123	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400665	78400665	+	Frame_Shift_Del	DEL	A	A	-	rs373671296|rs35015855		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr12:78400665delA	ENST00000397909.2	+	8	1520	c.1347delA	c.(1345-1347)ccafs	p.P449fs	NAV3_ENST00000228327.6_Frame_Shift_Del_p.P449fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.P449fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P449fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	449						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGCCCCTCCAAAAGCTGGAA	0.398										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1345-1347)CCAfs		neuron navigator 3							81.0	77.0	78.0					12																	78400665		1835	4092	5927	SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400665delA	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1347delA	12.37:g.78400665delA	ENSP00000381007:p.Pro449fs	HNSCC(70;0.22)				NAV3_uc001syo.2_Frame_Shift_Del_p.P449fs	p.P449fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1520	+			449					Q8NFW7|Q9Y2E7	Frame_Shift_Del	DEL	ENST00000397909.2	37	c.1347delA																																																																																					0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		34	59	NA	NA	NA	NA	NA	34	59	---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111767915	111767915	+	Frame_Shift_Del	DEL	G	G	-	rs144455445		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr13:111767915delG	ENST00000375741.2	+	1	292	c.42delG	c.(40-42)ctgfs	p.L14fs	ARHGEF7-AS2_ENST00000425094.2_RNA|ARHGEF7_ENST00000375739.2_Frame_Shift_Del_p.L14fs|ARHGEF7_ENST00000370623.3_Frame_Shift_Del_p.L14fs|ARHGEF7_ENST00000317133.5_Frame_Shift_Del_p.L14fs	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	14	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATCACTCTGGGGGTGCTGG	0.682																																							uc001vrs.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(40-42)CTGfs		PAK-interacting exchange factor beta isoform c							24.0	24.0	24.0					13																	111767915		2202	4300	6502	SO:0001589	frameshift_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111767915delG	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.42delG	13.37:g.111767915delG	ENSP00000364893:p.Leu14fs					ARHGEF7_uc001vrr.2_Frame_Shift_Del_p.L14fs|ARHGEF7_uc001vrt.2_Frame_Shift_Del_p.L14fs	p.L14fs	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	292	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		14			CH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Frame_Shift_Del	DEL	ENST00000375741.2	37	c.42delG	CCDS45068.1																																																																																				0.682	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		18	47	NA	NA	NA	NA	NA	18	47	---	---	---	---
CPNE6	9362	broad.mit.edu	37	14	24546933	24546933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:24546933delC	ENST00000397016.2	+	17	1979	c.1668delC	c.(1666-1668)agcfs	p.S556fs	CPNE6_ENST00000537691.1_Frame_Shift_Del_p.S611fs|CPNE6_ENST00000216775.2_Frame_Shift_Del_p.S556fs	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	556					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCAGCCCTAGCCCGTGACTGC	0.657																																							uc001wll.2		NA																	0				skin(2)|ovary(1)	3						c.(1666-1668)AGCfs		copine 6							27.0	29.0	28.0					14																	24546933		2199	4299	6498	SO:0001589	frameshift_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24546933delC	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1668delC	14.37:g.24546933delC	ENSP00000380211:p.Ser556fs					CPNE6_uc010tnv.1_Frame_Shift_Del_p.S611fs|CPNE6_uc001wlm.2_Frame_Shift_Del_p.S381fs|CPNE6_uc001wln.2_3'UTR	p.S556fs	NM_006032	NP_006023	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	1767	+			556					B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Frame_Shift_Del	DEL	ENST00000397016.2	37	c.1668delC	CCDS9607.1																																																																																				0.657	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			9	50	NA	NA	NA	NA	NA	9	50	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64606758	64606758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr14:64606758delG	ENST00000344113.4	+	80	15155	c.14943delG	c.(14941-14943)ttgfs	p.L4981fs	SYNE2_ENST00000555002.1_Frame_Shift_Del_p.L1615fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L4981fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Frame_Shift_Del_p.L1366fs|SYNE2_ENST00000394768.2_Frame_Shift_Del_p.L1366fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L4898fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4981					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCAGGACTTGGATACAATCA	0.358																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(14941-14943)TTGfs		spectrin repeat containing, nuclear envelope 2							107.0	98.0	101.0					14																	64606758		2203	4300	6503	SO:0001589	frameshift_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64606758delG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14943delG	14.37:g.64606758delG	ENSP00000341781:p.Leu4981fs					SYNE2_uc001xgl.2_Frame_Shift_Del_p.L4981fs|SYNE2_uc010apy.2_Frame_Shift_Del_p.L1366fs|SYNE2_uc001xgn.2_5'UTR|SYNE2_uc001xgo.2_5'Flank	p.L4981fs	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	80	15173	+			4981			Spectrin 1.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	c.14943delG	CCDS41963.1																																																																																				0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		41	66	NA	NA	NA	NA	NA	41	66	---	---	---	---
CSNK1G1	53944	broad.mit.edu	37	15	64499783	64499783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr15:64499783delC	ENST00000303052.7	-	7	1113	c.690delG	c.(688-690)cggfs	p.R231fs	CTD-2116N17.1_ENST00000606793.1_Frame_Shift_Del_p.R213fs|CSNK1G1_ENST00000607537.1_Frame_Shift_Del_p.R231fs|CSNK1G1_ENST00000303032.6_Frame_Shift_Del_p.R231fs	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						AATCATCTCTCCGGCTTTGCT	0.453																																							uc002anf.2		NA																	0					0						c.(688-690)CGGfs		casein kinase 1, gamma 1							90.0	81.0	84.0					15																	64499783		2203	4300	6503	SO:0001589	frameshift_variant	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64499783delC	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.690delG	15.37:g.64499783delC	ENSP00000305777:p.Arg231fs					CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Frame_Shift_Del_p.R230fs|CSNK1G1_uc002anh.1_Frame_Shift_Del_p.R230fs|CSNK1G1_uc002anj.2_Frame_Shift_Del_p.R212fs	p.R230fs	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			7	1170	-			230			Protein kinase.		Q5JPH1|Q96AE9|Q9HCP1	Frame_Shift_Del	DEL	ENST00000303052.7	37	c.690delG	CCDS10192.2																																																																																				0.453	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		14	32	NA	NA	NA	NA	NA	14	32	---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58030897	58030897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr16:58030897delC	ENST00000299237.2	-	2	1895	c.1273delG	c.(1273-1275)gagfs	p.E425fs	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	425					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(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AAGGGCCGCTCGGCCGCGCCG	0.662																																							uc002emx.1		NA																	0					0						c.(1273-1275)GAGfs		zinc finger protein 319							25.0	28.0	27.0					16																	58030897		2195	4296	6491	SO:0001589	frameshift_variant	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030897delC	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1273delG	16.37:g.58030897delC	ENSP00000299237:p.Glu425fs						p.E425fs	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	1896	-			425					Q52LH8	Frame_Shift_Del	DEL	ENST00000299237.2	37	c.1273delG	CCDS32462.1																																																																																				0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			17	28	NA	NA	NA	NA	NA	17	28	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54358470	54358471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:54358470_54358471insT	ENST00000254442.3	+	8	952_953	c.741_742insT	c.(742-744)ttgfs	p.L248fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.L248fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	248					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAGACTATTCCTTGTTGTGTTC	0.401																																							uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(739-744)TCCTTGfs		rabconnectin-3 beta isoform 1																																				SO:0001589	frameshift_variant	23335							g.chr18:54358470_54358471insT	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.743dupT	18.37:g.54358472_54358472dupT	ENSP00000254442:p.Leu248fs					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Frame_Shift_Ins_p.S247fs	p.S247fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	8	952_953	+			247_248					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Frame_Shift_Ins	INS	ENST00000254442.3	37	c.741_742insT	CCDS11962.1																																																																																				0.401	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			18	73	NA	NA	NA	NA	NA	18	73	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63547767	63547767	+	Frame_Shift_Del	DEL	G	G	-	rs150661165		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr18:63547767delG	ENST00000397968.2	+	12	2421	c.1995delG	c.(1993-1995)gcgfs	p.A665fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A665fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	665					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACACGGAAGCGTTTGACATGG	0.488																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1993-1995)GCGfs		cadherin 7, type 2 preproprotein							77.0	77.0	77.0					18																	63547767		2203	4300	6503	SO:0001589	frameshift_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547767delG	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1995delG	18.37:g.63547767delG	ENSP00000381058:p.Ala665fs					CDH7_uc002lkb.2_Frame_Shift_Del_p.A665fs	p.A665fs	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2320	+		Esophageal squamous(42;0.129)	665			Cytoplasmic (Potential).		Q9H157	Frame_Shift_Del	DEL	ENST00000397968.2	37	c.1995delG	CCDS11993.1																																																																																				0.488	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		11	43	NA	NA	NA	NA	NA	11	43	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11138587	11138588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11138587_11138588insA	ENST00000429416.3	+	25	3624_3625	c.3343_3344insA	c.(3343-3345)tacfs	p.Y1115fs	SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.Y1115fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.Y1115fs|SMARCA4_ENST00000358026.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.Y1115fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.Y1115fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.Y1115fs|SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.Y1115fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1115	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CATGGAAGATTACTTTGCGTAT	0.465			"""F, N, Mis"""		NSCLC																																		uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Unknown(2)	p.?(2)	lung(2)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3343-3345)TACfs		SWI/SNF-related matrix-associated																																				SO:0001589	frameshift_variant	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11138587_11138588insA	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3344dupA	19.37:g.11138588_11138588dupA	ENSP00000395654:p.Tyr1115fs					SMARCA4_uc010dxp.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxo.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc002mqg.1_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxq.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxr.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc002mqj.3_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxs.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxt.1_Frame_Shift_Ins_p.Y335fs|SMARCA4_uc002mqh.3_Frame_Shift_Ins_p.Y238fs|SMARCA4_uc002mqi.1_Frame_Shift_Ins_p.Y318fs	p.Y1115fs	NM_003072	NP_003063	P51532	SMCA4_HUMAN			24	3627_3628	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1115			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Ins	INS	ENST00000429416.3	37	c.3343_3344insA	CCDS12253.1																																																																																				0.465	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		105	135	NA	NA	NA	NA	NA	105	135	---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11238690	11238691	+	Frame_Shift_Del	DEL	GC	GC	-	rs377563758		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:11238690_11238691delGC	ENST00000558518.1	+	16	2505_2506	c.2318_2319delGC	c.(2317-2319)ggcfs	p.G773fs	LDLR_ENST00000557933.1_Frame_Shift_Del_p.G773fs|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558013.1_Frame_Shift_Del_p.G773fs|LDLR_ENST00000455727.2_Frame_Shift_Del_p.G605fs|LDLR_ENST00000535915.1_Frame_Shift_Del_p.G732fs|LDLR_ENST00000545707.1_Frame_Shift_Del_p.G595fs	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	773					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCAGCTCTGGGCGACGTTGCTG	0.624																																					GBM(18;201 575 7820 21545)	GBM(18;201 575 7820 21545)	uc002mqk.3		NA																	0				ovary(2)|skin(2)	4	GRCh37	CD984003	LDLR	D		c.(2317-2319)GGCfs		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)																																			SO:0001589	frameshift_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11238690_11238691delGC	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2318_2319delGC	19.37:g.11238690_11238691delGC	ENSP00000454071:p.Gly773fs					LDLR_uc010xlk.1_Frame_Shift_Del_p.G773fs|LDLR_uc010xll.1_Frame_Shift_Del_p.G732fs|LDLR_uc010xlm.1_Frame_Shift_Del_p.G626fs|LDLR_uc010xln.1_Frame_Shift_Del_p.G595fs|LDLR_uc010xlo.1_Frame_Shift_Del_p.G605fs|LDLR_uc010dxu.2_5'UTR	p.G773fs	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	16	2486_2487	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	773			Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Frame_Shift_Del	DEL	ENST00000558518.1	37	c.2318_2319delGC	CCDS12254.1																																																																																				0.624	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			14	82	NA	NA	NA	NA	NA	14	82	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49646213	49646225	+	Frame_Shift_Del	DEL	GGAGATGGTCTCG	GGAGATGGTCTCG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GGAGATGGTCTCG	GGAGATGGTCTCG	-	-	GGAGATGGTCTCG	GGAGATGGTCTCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:49646213_49646225delGGAGATGGTCTCG	ENST00000334186.4	+	21	3046_3058	c.2697_2709delGGAGATGGTCTCG	c.(2695-2709)caggagatggtctcgfs	p.QEMVS899fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.QEMVS899fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	899	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCGCCATCCAGGAGATGGTCTCGCTCACCTCGC	0.648																																							uc002pmr.2		NA																	0				lung(1)	1						c.(2695-2709)CAGGAGATGGTCTCGfs		PTPRF interacting protein alpha 3																																				SO:0001589	frameshift_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49646213_49646225delGGAGATGGTCTCG	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2697_2709delGGAGATGGTCTCG	19.37:g.49646213_49646225delGGAGATGGTCTCG	ENSP00000335614:p.Gln899fs					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Frame_Shift_Del_p.Q767fs|PPFIA3_uc002pmt.2_Frame_Shift_Del_p.Q47fs	p.Q899fs	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	21	3029_3041	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	899_903			SAM 1.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Frame_Shift_Del	DEL	ENST00000334186.4	37	c.2697_2709delGGAGATGGTCTCG	CCDS12758.1																																																																																				0.648	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		24	97	NA	NA	NA	NA	NA	24	97	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58565262	58565268	+	Frame_Shift_Del	DEL	CCCGGGA	CCCGGGA	-	rs144536843	byFrequency	TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CCCGGGA	CCCGGGA	-	-	CCCGGGA	CCCGGGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr19:58565262_58565268delCCCGGGA	ENST00000282326.1	+	6	1317_1323	c.1070_1076delCCCGGGA	c.(1069-1077)ccccgggagfs	p.PRE357fs		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	357					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCAAGGGCCCCCGGGAGTCCGTCCCA	0.657																																							uc002qrc.1		NA																	0				ovary(2)	2						c.(1069-1077)CCCCGGGAGfs		zinc finger and SCAN domain containing 1																																				SO:0001589	frameshift_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565262_58565268delCCCGGGA	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1070_1076delCCCGGGA	19.37:g.58565262_58565268delCCCGGGA	ENSP00000282326:p.Pro357fs						p.P357fs	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1317_1323	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	357_359					Q3B798|Q6WLH8|Q86WS8	Frame_Shift_Del	DEL	ENST00000282326.1	37	c.1070_1076delCCCGGGA	CCDS12969.1																																																																																				0.657	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		24	38	NA	NA	NA	NA	NA	24	38	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51255156	51255157	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr2:51255156_51255157delCG	ENST00000406316.2	-	2	1731_1732	c.255_256delCG	c.(253-258)cgcggcfs	p.G87fs	NRXN1_ENST00000406859.3_Frame_Shift_Del_p.G87fs|NRXN1_ENST00000405581.1_Frame_Shift_Del_p.G87fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.G87fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.G87fs|NRXN1_ENST00000404971.1_Frame_Shift_Del_p.G87fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.G87fs	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	87	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGCGGCCGCCGCGCGTCAGAA	0.663																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(253-258)CGCGGCfs		neurexin 1 isoform alpha2 precursor																																				SO:0001589	frameshift_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51255156_51255157delCG	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.255_256delCG	2.37:g.51255160_51255161delCG	ENSP00000384311:p.Gly87fs					NRXN1_uc002rxe.3_Frame_Shift_Del_p.R85fs|NRXN1_uc002rxd.1_Frame_Shift_Del_p.R85fs	p.R85fs	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1732_1733	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment_150					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Frame_Shift_Del	DEL	ENST00000406316.2	37	c.255_256delCG	CCDS54360.1																																																																																				0.663	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			12	10	NA	NA	NA	NA	NA	12	10	---	---	---	---
SEMG1	6406	broad.mit.edu	37	20	43836371	43836371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr20:43836371delG	ENST00000372781.3	+	2	490	c.433delG	c.(433-435)gatfs	p.D145fs	SEMG1_ENST00000244069.6_Frame_Shift_Del_p.D145fs	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	145	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCTTCTCAAGATCAGGGGAA	0.418																																							uc002xni.2		NA																	0				skin(2)	2						c.(433-435)GATfs		semenogelin I preproprotein							94.0	82.0	86.0					20																	43836371		2203	4300	6503	SO:0001589	frameshift_variant	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836371delG		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.433delG	20.37:g.43836371delG	ENSP00000361867:p.Asp145fs					SEMG1_uc002xnj.2_Frame_Shift_Del_p.D145fs|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Frame_Shift_Del_p.D145fs	p.D145fs	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	490	+		Myeloproliferative disorder(115;0.0122)	145					Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Frame_Shift_Del	DEL	ENST00000372781.3	37	c.433delG	CCDS13345.1																																																																																				0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		25	57	NA	NA	NA	NA	NA	25	57	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9100069	9100069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:9100069delC	ENST00000383836.3	-	7	1316	c.889delG	c.(889-891)gaafs	p.E297fs	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.E297fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	297	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGCCCTTCGTGGCGAGAG	0.552			T	RAF1	pilocytic astrocytoma																																		uc003brf.1		NA		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(889-891)GAAfs		SLIT-ROBO Rho GTPase activating protein 3							206.0	178.0	187.0					3																	9100069		2203	4300	6503	SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9100069delC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.889delG	3.37:g.9100069delC	ENSP00000373347:p.Glu297fs					SRGAP3_uc003brg.1_Frame_Shift_Del_p.E297fs|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brj.1_Frame_Shift_Del_p.E157fs	p.E297fs	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	7	1565	-			297					Q8IX13|Q8IZV8	Frame_Shift_Del	DEL	ENST00000383836.3	37	c.889delG	CCDS2572.1																																																																																				0.552	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			38	131	NA	NA	NA	NA	NA	38	131	---	---	---	---
MKRN2	23609	broad.mit.edu	37	3	12623348	12623349	+	Frame_Shift_Ins	INS	-	-	C	rs530616215		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:12623348_12623349insC	ENST00000170447.7	+	7	1147_1148	c.1010_1011insC	c.(1009-1014)tgcccafs	p.CP337fs	MKRN2_ENST00000448482.1_Frame_Shift_Ins_p.CP335fs|MKRN2_ENST00000411987.1_Frame_Shift_Ins_p.CP294fs	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	337					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AAGGGGACCTGCCCATTTGGAA	0.495																																							uc003bxd.2		NA																	0					0						c.(1009-1011)TGCfs		makorin ring finger protein 2																																				SO:0001589	frameshift_variant	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12623348_12623349insC		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.1013dupC	3.37:g.12623351_12623351dupC	ENSP00000170447:p.Cys337fs					MKRN2_uc003bxe.2_Frame_Shift_Ins_p.C335fs|MKRN2_uc011aus.1_Frame_Shift_Ins_p.C294fs	p.C337fs	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN			7	1066_1067	+			337			C3H1-type 4.		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Frame_Shift_Ins	INS	ENST00000170447.7	37	c.1010_1011insC	CCDS33702.1																																																																																				0.495	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		37	113	NA	NA	NA	NA	NA	37	113	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78988050	78988050	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:78988050delG	ENST00000464233.1	-	4	313	c.200delC	c.(199-201)ccafs	p.P68fs	ROBO1_ENST00000495273.1_Frame_Shift_Del_p.P29fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.P29fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.P29fs|RN7SL751P_ENST00000473281.2_RNA	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	68	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AATGCGAGGTGGAAAATCTTC	0.433																																							uc003dqe.2		NA																	0				large_intestine(2)	2						c.(199-201)CCAfs		roundabout 1 isoform a							85.0	80.0	81.0					3																	78988050		1843	4096	5939	SO:0001589	frameshift_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78988050delG	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.200delC	3.37:g.78988050delG	ENSP00000420321:p.Pro68fs					ROBO1_uc003dqb.2_Frame_Shift_Del_p.P28fs|ROBO1_uc003dqc.2_Frame_Shift_Del_p.P28fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.P28fs	p.P67fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	4	408	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	67			Extracellular (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	c.200delC	CCDS54611.1																																																																																				0.433	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		9	42	NA	NA	NA	NA	NA	9	42	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880881	137880881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr3:137880881delC	ENST00000260803.4	-	8	1638	c.1485delG	c.(1483-1485)gggfs	p.G495fs	DBR1_ENST00000505015.2_Frame_Shift_Del_p.G261fs	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	495					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACTCCACAGTCCCACCAGGTT	0.453																																							uc003erv.2		NA																	0					0						c.(1483-1485)GGGfs		debranching enzyme homolog 1							165.0	161.0	162.0					3																	137880881		2203	4300	6503	SO:0001589	frameshift_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880881delC	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1485delG	3.37:g.137880881delC	ENSP00000260803:p.Gly495fs					DBR1_uc003eru.2_Frame_Shift_Del_p.G444fs|DBR1_uc003ert.2_Frame_Shift_Del_p.G263fs	p.G495fs	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1621	-			495					Q96GH0|Q9NXQ6	Frame_Shift_Del	DEL	ENST00000260803.4	37	c.1485delG	CCDS33863.1																																																																																				0.453	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			23	83	NA	NA	NA	NA	NA	23	83	---	---	---	---
DHFR	1719	broad.mit.edu	37	5	79950244	79950244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:79950244delT	ENST00000439211.2	-	1	558	c.65delA	c.(64-66)gacfs	p.D22fs	MSH3_ENST00000265081.6_5'Flank|DHFR_ENST00000504396.1_5'UTR|DHFR_ENST00000505337.1_Frame_Shift_Del_p.D22fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Frame_Shift_Del_p.D22fs	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	22	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	CCAGGGCAGGTCCCCGTTCTT	0.682																																							uc003kgy.1		NA																	0					0						c.(64-66)GACfs		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						32.0	34.0	34.0					5																	79950244		1927	4102	6029	SO:0001589	frameshift_variant	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79950244delT		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.65delA	5.37:g.79950244delT	ENSP00000396308:p.Asp22fs					MSH3_uc003kgz.2_5'Flank|DHFR_uc011ctl.1_Frame_Shift_Del_p.D102fs|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Frame_Shift_Del_p.D171fs	p.D22fs	NM_000791	NP_000782	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	1	557	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	22			DHFR.|NADP.		B4DDD2|Q14130|Q6IRW8	Frame_Shift_Del	DEL	ENST00000439211.2	37	c.65delA	CCDS47240.1																																																																																				0.682	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		14	36	NA	NA	NA	NA	NA	14	36	---	---	---	---
FAM172A	83989	broad.mit.edu	37	5	92956752	92956757	+	In_Frame_Del	DEL	TGGTCT	TGGTCT	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	TGGTCT	TGGTCT	-	-	TGGTCT	TGGTCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:92956752_92956757delTGGTCT	ENST00000395965.3	-	11	1329_1334	c.1187_1192delAGACCA	c.(1186-1194)aagaccagc>agc	p.KT396del	FAM172A_ENST00000505869.1_In_Frame_Del_p.KT286del|MIR2277_ENST00000515916.1_RNA|FAM172A_ENST00000509739.1_In_Frame_Del_p.KT249del|FAM172A_ENST00000509163.1_In_Frame_Del_p.KT350del	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	396						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TTCAGGGAGCTGGTCTTGGCCTCTGA	0.597																																							uc010jbd.2		NA																	0					0						c.(1186-1194)AAGACCAGC>AGC		hypothetical protein LOC83989 isoform 1																																				SO:0001651	inframe_deletion	83989					endoplasmic reticulum|extracellular region		g.chr5:92956752_92956757delTGGTCT		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.1187_1192delAGACCA	5.37:g.92956752_92956757delTGGTCT	ENSP00000379294:p.Lys396_Thr397del					FAM172A_uc011cuf.1_In_Frame_Del_p.KT350del|FAM172A_uc011cug.1_In_Frame_Del_p.KT286del|FAM172A_uc011cuh.1_In_Frame_Del_p.KT249del|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_3'UTR|MIR2277_hsa-mir-2277|MI0011284_5'Flank	p.KT396del	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN			11	1394_1399	-			396_397					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	In_Frame_Del	DEL	ENST00000395965.3	37	c.1187_1192delAGACCA	CCDS4069.1																																																																																				0.597	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		8	59	NA	NA	NA	NA	NA	8	59	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132437501	132437501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr5:132437501delA	ENST00000304858.2	+	17	2377	c.2088delA	c.(2086-2088)ccafs	p.P696fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	696					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAACGACCAAAATTATTTG	0.343																																					Colon(114;1299 1588 6063 12302 48757)	Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NA																	0				lung(1)|breast(1)	2						c.(2086-2088)CCAfs		heat shock 70kDa protein 4							70.0	69.0	69.0					5																	132437501		2203	4300	6503	SO:0001589	frameshift_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132437501delA	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2088delA	5.37:g.132437501delA	ENSP00000302961:p.Pro696fs						p.P696fs	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		17	2369	+			696					O95756|Q2TAL4|Q9BUK9	Frame_Shift_Del	DEL	ENST00000304858.2	37	c.2088delA	CCDS4166.1																																																																																				0.343	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		8	24	NA	NA	NA	NA	NA	8	24	---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65439604	65439604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:65439604delG	ENST00000304895.4	-	7	1283	c.1153delC	c.(1153-1155)cacfs	p.H385fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.H239fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.H334fs|GUSB_ENST00000476486.1_5'Flank	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	385					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TAGGGGTAGTGGCTGGTACGG	0.592																																							uc003tun.2		NA																	0					0						c.(1153-1155)CACfs		glucuronidase, beta precursor							98.0	92.0	94.0					7																	65439604		2203	4300	6503	SO:0001589	frameshift_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65439604delG	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1153delC	7.37:g.65439604delG	ENSP00000302728:p.His385fs					GUSB_uc011kdt.1_Frame_Shift_Del_p.H239fs	p.H385fs	NM_000181	NP_000172	P08236	BGLR_HUMAN			7	1229	-			385					B4E1F6|E9PCV0|Q549U0|Q96CL9	Frame_Shift_Del	DEL	ENST00000304895.4	37	c.1153delC	CCDS5530.1																																																																																				0.592	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		17	85	NA	NA	NA	NA	NA	17	85	---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127235724	127235726	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	GCA	GCA	-	-	GCA	GCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr7:127235724_127235726delGCA	ENST00000265825.5	+	2	727_729	c.508_510delGCA	c.(508-510)gcadel	p.A171del	FSCN3_ENST00000420086.2_In_Frame_Del_p.A37del|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	171						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A170T(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGTGGACGCAGCAGTTCCCT	0.611																																							uc003vmd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(508-510)GCAdel		fascin 3																																				SO:0001651	inframe_deletion	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235724_127235726delGCA		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.508_510delGCA	7.37:g.127235727_127235729delGCA	ENSP00000265825:p.Ala171del					FSCN3_uc003vmc.1_In_Frame_Del_p.A126del|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_In_Frame_Del_p.A37del|FSCN3_uc010llc.1_In_Frame_Del_p.A171del	p.A171del	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			2	727_729	+			171					A4D0Z2|A6NLL7|B2RA62|B4DU68	In_Frame_Del	DEL	ENST00000265825.5	37	c.508_510delGCA	CCDS34746.1																																																																																				0.611	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		12	79	NA	NA	NA	NA	NA	12	79	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3265561	3265561	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:3265561delC	ENST00000520002.1	-	15	2489	c.1934delG	c.(1933-1935)ggcfs	p.G645fs	CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.G644fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G645fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G645fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	645	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)		GTCAGAAATGCCATCATCCTT	0.458																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(1933-1935)GGCfs		CUB and Sushi multiple domains 1 precursor							97.0	87.0	90.0					8																	3265561		1927	4140	6067	SO:0001589	frameshift_variant	64478					integral to membrane		g.chr8:3265561delC			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.1934delG	8.37:g.3265561delC	ENSP00000430733:p.Gly645fs					CSMD1_uc011kwj.1_Frame_Shift_Del_p.G37fs	p.G645fs	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)	14	2324	-		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)	645			Extracellular (Potential).|CUB 4.		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37	c.1934delG																																																																																					0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	13	NA	NA	NA	NA	NA	10	13	---	---	---	---
KLF10	7071	broad.mit.edu	37	8	103664486	103664487	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:103664486_103664487delTA	ENST00000285407.6	-	2	475_476	c.175_176delTA	c.(175-177)tacfs	p.Y59fs	KLF10_ENST00000395884.3_Frame_Shift_Del_p.Y48fs	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	59					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GTTTTCAACGTATTTCTTAAAA	0.391											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)	Esophageal Squamous(16;495 519 2144 16528 44005)	uc011lhk.1		NA																	0					0						c.(175-177)TACfs		Kruppel-like factor 10 isoform a																																				SO:0001589	frameshift_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664486_103664487delTA	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.175_176delTA	8.37:g.103664486_103664487delTA	ENSP00000285407:p.Tyr59fs		OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1375	KLF10_uc011lhj.1_Frame_Shift_Del_p.Y48fs	p.Y59fs	NM_005655	NP_005646	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		2	329_330	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		59					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Frame_Shift_Del	DEL	ENST00000285407.6	37	c.175_176delTA	CCDS6294.1																																																																																				0.391	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			25	85	NA	NA	NA	NA	NA	25	85	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120577193	120577193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr8:120577193delC	ENST00000075322.6	-	23	2192	c.2134delG	c.(2134-2136)gtcfs	p.V712fs	ENPP2_ENST00000522167.1_Frame_Shift_Del_p.V347fs|ENPP2_ENST00000522826.1_Frame_Shift_Del_p.V737fs|ENPP2_ENST00000259486.6_Frame_Shift_Del_p.V764fs|ENPP2_ENST00000427067.2_Frame_Shift_Del_p.V733fs	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	712					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAATTCCAGACCCCTGTGCAA	0.383																																					Melanoma(20;305 879 2501 4818 31020)	Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(2134-2136)GTCfs		autotaxin isoform 2 preproprotein							98.0	85.0	90.0					8																	120577193		2203	4300	6503	SO:0001589	frameshift_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120577193delC	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2134delG	8.37:g.120577193delC	ENSP00000075322:p.Val712fs					ENPP2_uc011lic.1_Frame_Shift_Del_p.V250fs|ENPP2_uc003yor.1_Frame_Shift_Del_p.V347fs|ENPP2_uc003yos.1_Frame_Shift_Del_p.V764fs|ENPP2_uc010mdd.1_Frame_Shift_Del_p.V737fs	p.V712fs	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		23	2220	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		712					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Frame_Shift_Del	DEL	ENST00000075322.6	37	c.2134delG	CCDS34936.1																																																																																				0.383	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			7	27	NA	NA	NA	NA	NA	7	27	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35606843	35606843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:35606843delG	ENST00000336395.5	+	4	650	c.400delG	c.(400-402)gggfs	p.G135fs	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTATATGAATGGGGGGACATT	0.577																																							uc003zxa.2		NA																	0				stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(400-402)GGGfs		testis-specific protein kinase 1							55.0	51.0	52.0					9																	35606843		2203	4300	6503	SO:0001589	frameshift_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35606843delG	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.400delG	9.37:g.35606843delG	ENSP00000338127:p.Gly135fs					TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Frame_Shift_Del_p.M1fs	p.G134fs	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	736	+			134			Protein kinase.		Q8IXZ8	Frame_Shift_Del	DEL	ENST00000336395.5	37	c.400delG	CCDS6580.1																																																																																				0.577	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		13	74	NA	NA	NA	NA	NA	13	74	---	---	---	---
ZNF782	158431	broad.mit.edu	37	9	99581246	99581246	+	Frame_Shift_Del	DEL	G	G	-	rs35483372		TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chr9:99581246delG	ENST00000481138.1	-	6	1720	c.1059delC	c.(1057-1059)ttcfs	p.F353fs	ZNF782_ENST00000535338.1_Frame_Shift_Del_p.F221fs|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGTACACTGAAAGTTGACT	0.408																																							uc004awp.1		NA																	0					0						c.(1057-1059)TTCfs		zinc finger protein 782							158.0	146.0	150.0					9																	99581246		2203	4300	6503	SO:0001589	frameshift_variant	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581246delG	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1059delC	9.37:g.99581246delG	ENSP00000419397:p.Phe353fs					ZNF782_uc011lup.1_Frame_Shift_Del_p.F221fs	p.F353fs	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			6	1340	-		Acute lymphoblastic leukemia(62;0.0527)	353			C2H2-type 3; degenerate.		B2RNR0	Frame_Shift_Del	DEL	ENST00000481138.1	37	c.1059delC	CCDS35075.1																																																																																				0.408	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		28	91	NA	NA	NA	NA	NA	28	91	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27997961	27997962	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:27997961_27997962delCG	ENST00000441525.1	-	1	1604_1605	c.1490_1491delCG	c.(1489-1491)gcgfs	p.A497fs		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	497								p.A497V(1)|p.A497G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGCCACTGGTCGCCAACACAGG	0.485																																							uc004dbx.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|skin(1)	4						c.(1489-1491)GCGfs		DDB1 and CUL4 associated factor 8-like 1																																				SO:0001589	frameshift_variant	139425							g.chrX:27997961_27997962delCG		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1490_1491delCG	X.37:g.27997961_27997962delCG	ENSP00000405222:p.Ala497fs						p.A497fs	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1605_1606	-			497			WD 7.		B3KXX1	Frame_Shift_Del	DEL	ENST00000441525.1	37	c.1490_1491delCG	CCDS35222.1																																																																																				0.485	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		11	32	NA	NA	NA	NA	NA	11	32	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977860	107977861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-3771-01A-01D-1040-01	TCGA-67-3771-10A-01D-1040-01	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a715d783-38f1-4f6d-991b-983fb907cc9f	24f1a1ea-733d-45b3-a51b-073807143f78	g.chrX:107977860_107977861insA	ENST00000372129.2	-	1	1790_1791	c.1714_1715insT	c.(1714-1716)ggtfs	p.G572fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	572					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCCTGGCCACCACCTGAGCCA	0.629																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1714-1716)GGTfs		insulin receptor substrate 4																																				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977860_107977861insA	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1714_1715insT	X.37:g.107977860_107977861insA	ENSP00000361202:p.Gly572fs						p.G572fs	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1747_1748	-			572						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1714_1715insT	CCDS14544.1																																																																																				0.629	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		68	166	NA	NA	NA	NA	NA	68	166	---	---	---	---
